Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 9 transcript(s)...
Querying Taster for transcript #1: ENST00000347343
Querying Taster for transcript #2: ENST00000395915
Querying Taster for transcript #3: ENST00000312783
Querying Taster for transcript #4: ENST00000371356
Querying Taster for transcript #5: ENST00000395913
Querying Taster for transcript #6: ENST00000395911
Querying Taster for transcript #7: ENST00000395907
Querying Taster for transcript #8: ENST00000395909
Querying Taster for transcript #9: ENST00000395914
MT speed 0 s - this script 5.118547 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file
AURKApolymorphism_automatic7.8980155748809e-12simple_aaeaffectedF31Isingle base exchangers2273535show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000347343
Genbank transcript ID NM_003600
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.359T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1480 / 1480
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 269 / 269
chromosome 20
strand -1
last intron/exon boundary 1298
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 359
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395915
Genbank transcript ID NM_198437
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.225T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1346 / 1346
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 135 / 135
chromosome 20
strand -1
last intron/exon boundary 1164
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 225
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.38 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000312783
Genbank transcript ID NM_198436
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.334T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1455 / 1455
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 244 / 244
chromosome 20
strand -1
last intron/exon boundary 1273
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 334
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.31 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000371356
Genbank transcript ID N/A
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.223T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1344 / 1344
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 133 / 133
chromosome 20
strand -1
last intron/exon boundary 1162
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 223
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.83 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395913
Genbank transcript ID NM_198435
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.280T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1401 / 1401
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 190 / 190
chromosome 20
strand -1
last intron/exon boundary 1219
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 280
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.31 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395911
Genbank transcript ID N/A
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.256T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1377 / 1377
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 166 / 166
chromosome 20
strand -1
last intron/exon boundary 1195
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 256
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.37 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395909
Genbank transcript ID NM_198433
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.657T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1778 / 1778
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 567 / 567
chromosome 20
strand -1
last intron/exon boundary 1596
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 657
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395907
Genbank transcript ID N/A
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.144T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1044 / 1044
position (AA) of stopcodon in wt / mu AA sequence 348 / 348
position of stopcodon in wt / mu cDNA 1097 / 1097
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 54 / 54
chromosome 20
strand -1
last intron/exon boundary 908
theoretical NMD boundary in CDS 804
length of CDS 1044
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 144
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVRRN*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVRRN*
speed 0.36 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992102 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM042940)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:54961541A>TN/A show variant in all transcripts   IGV
HGNC symbol AURKA
Ensembl transcript ID ENST00000395914
Genbank transcript ID NM_198434
UniProt peptide O14965
alteration type single base exchange
alteration region CDS
DNA changes c.91T>A
cDNA.348T>A
g.5853T>A
AA changes F31I Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs2273535
databasehomozygous (T/T)heterozygousallele carriers
1000G3249031227
ExAC55372169327230

known disease mutation at this position, please check HGMD for details (HGMD ID CM042940)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7510.094
-1.4490
(flanking)-2.9980
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5852wt: 0.34 / mu: 0.63wt: CGTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATT
mu: CGTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATT		 gcaa|TTTC
Donor marginally increased5848wt: 0.9806 / mu: 0.9984 (marginal change - not scored)wt: GACTCAGCAATTTCC
mu: GACTCAGCAAATTCC		 CTCA|gcaa
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31GGPKRVLVTQQFPCQNPLPVNSGQ
mutated  not conserved    31GGPKRVLVTQQIPCQNPLPVNSG
Ptroglodytes  all identical  ENSPTRG00000013646  31GGPKRVLVTQQFPCQNPLPVNSG
Mmulatta  all identical  ENSMMUG00000000070  31GGPKRVLVTQQFPCQNPLPANSG
Fcatus  no alignment  ENSFCAG00000002038  n/a
Mmusculus  not conserved  ENSMUSG00000027496  53G-PKRVLVTEQIPSQNLGSASSG
Ggallus  not conserved  ENSGALG00000007768  31DGPKRVPVPQNSAQSRPL--NSGV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000012485  37AGPKRVPVTQSVQKPVSNPHTRVLG
Dmelanogaster  no alignment  FBgn0000147  n/a
Celegans  no alignment  K07C11.2  n/a
Xtropicalis  not conserved  ENSXETG00000012032  31EGPKRIPVTQPPSTQVRPPGTAV
protein features
start (aa)end (aa)featuredetails 
4141MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5151MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
5353MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
130132HELIXmight get lost (downstream of altered splice site)
133141STRANDmight get lost (downstream of altered splice site)
133383DOMAINProtein kinase.might get lost (downstream of altered splice site)
143143BINDINGATP; via amide nitrogen.might get lost (downstream of altered splice site)
143152STRANDmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
158165STRANDmight get lost (downstream of altered splice site)
162162MUTAGENK->R: Loss of kinase activity.might get lost (downstream of altered splice site)
162162BINDINGATP.might get lost (downstream of altered splice site)
165165MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
166172HELIXmight get lost (downstream of altered splice site)
175187HELIXmight get lost (downstream of altered splice site)
191193STRANDmight get lost (downstream of altered splice site)
196201STRANDmight get lost (downstream of altered splice site)
198198MUTAGENG->N: Reduces interaction with TPX2. Reduces kinase activity tenfold. Promotes interaction with the AURKB binding partners INCENP and BIRC5 that are normally not bound by AURKA.might get lost (downstream of altered splice site)
203210STRANDmight get lost (downstream of altered splice site)
205205MUTAGENR->A: Reduces ubiquitination and proteasomal degradation.might get lost (downstream of altered splice site)
210213NP_BINDATP.might get lost (downstream of altered splice site)
214217STRANDmight get lost (downstream of altered splice site)
218225HELIXmight get lost (downstream of altered splice site)
230249HELIXmight get lost (downstream of altered splice site)
256256ACT_SITEProton acceptor.might get lost (downstream of altered splice site)
259261HELIXmight get lost (downstream of altered splice site)
262264STRANDmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
274274BINDINGATP.might get lost (downstream of altered splice site)
274274MUTAGEND->N: Abolishes autophosphorylation.might get lost (downstream of altered splice site)
275277HELIXmight get lost (downstream of altered splice site)
279283STRANDmight get lost (downstream of altered splice site)
280293REGIONActivation segment.might get lost (downstream of altered splice site)
287287MUTAGENT->A: No direct effect on catalytic activity.might get lost (downstream of altered splice site)
287287MUTAGENT->E: Enhances interaction with TPX2.might get lost (downstream of altered splice site)
287287MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288288MUTAGENT->D: Mimics phosphorylation state and increases kinase activity.might get lost (downstream of altered splice site)
288288MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
288292STRANDmight get lost (downstream of altered splice site)
293295HELIXmight get lost (downstream of altered splice site)
298301HELIXmight get lost (downstream of altered splice site)
302304TURNmight get lost (downstream of altered splice site)
309324HELIXmight get lost (downstream of altered splice site)
334343HELIXmight get lost (downstream of altered splice site)
342342MOD_RESPhosphoserine; by PKA and PAK.might get lost (downstream of altered splice site)
346346MUTAGENF->A: Decreases the interaction with phosphatase type 1 isoforms.might get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
354363HELIXmight get lost (downstream of altered splice site)
368370HELIXmight get lost (downstream of altered splice site)
369369MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
374378HELIXmight get lost (downstream of altered splice site)
381386HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1212 / 1212
position (AA) of stopcodon in wt / mu AA sequence 404 / 404
position of stopcodon in wt / mu cDNA 1469 / 1469
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 258 / 258
chromosome 20
strand -1
last intron/exon boundary 1287
theoretical NMD boundary in CDS 979
length of CDS 1212
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 348
gDNA position
(for ins/del: last normal base / first normal base)		 5853
chromosomal position
(for ins/del: last normal base / first normal base)		 54961541
original gDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered gDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
original cDNA sequence snippet GTGTTCTCGTGACTCAGCAATTTCCTTGTCAGAATCCATTA
altered cDNA sequence snippet GTGTTCTCGTGACTCAGCAAATTCCTTGTCAGAATCCATTA
wildtype AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ FPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
mutated AA sequence MDRSKENCIS GPVKATAPVG GPKRVLVTQQ IPCQNPLPVN SGQAQRVLCP SNSSQRIPLQ
AQKLVSSHKP VQNQKQKQLQ ATSVPHPVSR PLNNTQKSKQ PLPSAPENNP EEELASKQKN
EESKKRQWAL EDFEIGRPLG KGKFGNVYLA REKQSKFILA LKVLFKAQLE KAGVEHQLRR
EVEIQSHLRH PNILRLYGYF HDATRVYLIL EYAPLGTVYR ELQKLSKFDE QRTATYITEL
ANALSYCHSK RVIHRDIKPE NLLLGSAGEL KIADFGWSVH APSSRRTTLC GTLDYLPPEM
IEGRMHDEKV DLWSLGVLCY EFLVGKPPFE ANTYQETYKR ISRVEFTFPD FVTEGARDLI
SRLLKHNPSQ RPMLREVLEH PWITANSSKP SNCQNKESAS KQS*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems