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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000376462
Querying Taster for transcript #2: ENST00000376454
Querying Taster for transcript #3: ENST00000307544
Querying Taster for transcript #4: ENST00000396445
Querying Taster for transcript #5: ENST00000376451
Querying Taster for transcript #6: ENST00000396446
Querying Taster for transcript #7: ENST00000458595
Querying Taster for transcript #8: ENST00000376452
MT speed 0 s - this script 8.517028 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KIAA1217polymorphism_automatic9.56842305388506e-09simple_aaeaffectedA570Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic9.56842305388506e-09simple_aaeaffectedA570Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic9.56842305388506e-09simple_aaeaffectedA570Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic9.56842305388506e-09simple_aaeaffectedA570Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic2.8843738952844e-08simple_aaeaffectedA807Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic2.8843738952844e-08simple_aaeaffectedA887Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic2.8843738952844e-08simple_aaeaffectedA852Tsingle base exchangers10828663show file
KIAA1217polymorphism_automatic2.8843738952844e-08simple_aaeaffectedA852Tsingle base exchangers10828663show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999990431577 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000307544
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.1708G>A
cDNA.2040G>A
g.829780G>A
AA changes A570T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      570VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    570VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887TVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886TVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  939MTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  775VVPLSAGLRVHQVQSSPVLMQQSQ
protein features
start (aa)end (aa)featuredetails 
557581COILEDPotential.lost
644685COILEDPotential.might get lost (downstream of altered splice site)
679679CONFLICTK -> R (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
795795CONFLICTE -> G (in Ref. 1; CAE45879).might get lost (downstream of altered splice site)
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2799 / 2799
position (AA) of stopcodon in wt / mu AA sequence 933 / 933
position of stopcodon in wt / mu cDNA 3131 / 3131
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 333 / 333
chromosome 10
strand 1
last intron/exon boundary 2994
theoretical NMD boundary in CDS 2611
length of CDS 2799
coding sequence (CDS) position 1708
cDNA position
(for ins/del: last normal base / first normal base)		 2040
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHA QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKGSS GAPQTSRMPV
PMSAKNRPGT LDKPGKQSKL QDPRQYRQVV LP*
mutated AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHT QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKGSS GAPQTSRMPV
PMSAKNRPGT LDKPGKQSKL QDPRQYRQVV LP*
speed 0.99 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: 0.999999990431577 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000396445
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.1708G>A
cDNA.1968G>A
g.829780G>A
AA changes A570T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      570VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    570VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887TVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886TVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  939MTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  775VVPLSAGLRVHQVQSSPVLMQQSQ
protein features
start (aa)end (aa)featuredetails 
557581COILEDPotential.lost
644685COILEDPotential.might get lost (downstream of altered splice site)
679679CONFLICTK -> R (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
795795CONFLICTE -> G (in Ref. 1; CAE45879).might get lost (downstream of altered splice site)
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2721 / 2721
position (AA) of stopcodon in wt / mu AA sequence 907 / 907
position of stopcodon in wt / mu cDNA 2981 / 2981
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 261 / 261
chromosome 10
strand 1
last intron/exon boundary 2844
theoretical NMD boundary in CDS 2533
length of CDS 2721
coding sequence (CDS) position 1708
cDNA position
(for ins/del: last normal base / first normal base)		 1968
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHA QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KGSSGAPQTS RMPVPMSAKN RPGTLDKPGK QSKLQDPRQY
RQVVLP*
mutated AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHT QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KGSSGAPQTS RMPVPMSAKN RPGTLDKPGK QSKLQDPRQY
RQVVLP*
speed 0.98 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: 0.999999990431577 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000376451
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.1708G>A
cDNA.1968G>A
g.829780G>A
AA changes A570T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      570VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    570VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887TVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886TVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  939MTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  775VVPLSAGLRVHQVQSSPVLMQQSQ
protein features
start (aa)end (aa)featuredetails 
557581COILEDPotential.lost
644685COILEDPotential.might get lost (downstream of altered splice site)
679679CONFLICTK -> R (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
795795CONFLICTE -> G (in Ref. 1; CAE45879).might get lost (downstream of altered splice site)
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4398 / 4398
position (AA) of stopcodon in wt / mu AA sequence 1466 / 1466
position of stopcodon in wt / mu cDNA 4658 / 4658
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 261 / 261
chromosome 10
strand 1
last intron/exon boundary 4521
theoretical NMD boundary in CDS 4210
length of CDS 4398
coding sequence (CDS) position 1708
cDNA position
(for ins/del: last normal base / first normal base)		 1968
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHA QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKVTT GAVRPSDPPK
WERGMENSIS DASRTSEYKT EIIMKENSIS NMSLLRDSRN YSQETVPKAS FGFSGISPLE
DEINKGSKIS GLQYSIPDTE NQTLNYGKTK EMEKQNTDKC HVSSHTRLTE SSVHDFKTED
QEVITTDFGQ VVLRPKEARH ANVNPNEDGE SSSSSPTEEN AATDNIAFMI TETTVQVLSS
GEVHDIVSQK GEDIQTVNID ARKEMTPRQE GTDNEDPVVC LDKKPVIIIF DEPMDIRSAY
KRLSTIFEEC DEELERMMME EKIEEEEEEE NGDSVVQNNN TSQMSHKKVA PGNLRTGQQV
ETKSQPHSLA TETRNPGGQE MNRTELNKFS HVDSPNSECK GEDATDDQFE SPKKKFKFKF
PKKQLAALTQ AIRTGTKTGK KTLQVVVYEE EEEDGTLKQH KEAKRFEIAR SQPEDTPENT
VRRQEQPSIE STSPISRTDE IRKNTYRTLD SLEQTIKQLE NTISEMSPKA LVDTSCSSNR
DSVASSSHIA QEASPRPLLV PDEGPTALEP PTSIPSASRK GSSGAPQTSR MPVPMSAKNR
PGTLDKPGKQ SKLQDPRQYR QVVLP*
mutated AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHT QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QAFQKCSFMD VNSNSHAEPS
RADSHVKDTR SGATVPPKEK KNLEFFHEDV RKSDVEYENG PQMEFQKVTT GAVRPSDPPK
WERGMENSIS DASRTSEYKT EIIMKENSIS NMSLLRDSRN YSQETVPKAS FGFSGISPLE
DEINKGSKIS GLQYSIPDTE NQTLNYGKTK EMEKQNTDKC HVSSHTRLTE SSVHDFKTED
QEVITTDFGQ VVLRPKEARH ANVNPNEDGE SSSSSPTEEN AATDNIAFMI TETTVQVLSS
GEVHDIVSQK GEDIQTVNID ARKEMTPRQE GTDNEDPVVC LDKKPVIIIF DEPMDIRSAY
KRLSTIFEEC DEELERMMME EKIEEEEEEE NGDSVVQNNN TSQMSHKKVA PGNLRTGQQV
ETKSQPHSLA TETRNPGGQE MNRTELNKFS HVDSPNSECK GEDATDDQFE SPKKKFKFKF
PKKQLAALTQ AIRTGTKTGK KTLQVVVYEE EEEDGTLKQH KEAKRFEIAR SQPEDTPENT
VRRQEQPSIE STSPISRTDE IRKNTYRTLD SLEQTIKQLE NTISEMSPKA LVDTSCSSNR
DSVASSSHIA QEASPRPLLV PDEGPTALEP PTSIPSASRK GSSGAPQTSR MPVPMSAKNR
PGTLDKPGKQ SKLQDPRQYR QVVLP*
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: 0.999999990431577 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000396446
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.1708G>A
cDNA.1968G>A
g.829780G>A
AA changes A570T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      570VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    570VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887TVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886TVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  939MTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  775VVPLSAGLRVHQVQSSPVLMQQSQ
protein features
start (aa)end (aa)featuredetails 
557581COILEDPotential.lost
644685COILEDPotential.might get lost (downstream of altered splice site)
679679CONFLICTK -> R (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
795795CONFLICTE -> G (in Ref. 1; CAE45879).might get lost (downstream of altered splice site)
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2601 / 2601
position (AA) of stopcodon in wt / mu AA sequence 867 / 867
position of stopcodon in wt / mu cDNA 2861 / 2861
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 261 / 261
chromosome 10
strand 1
last intron/exon boundary 2724
theoretical NMD boundary in CDS 2413
length of CDS 2601
coding sequence (CDS) position 1708
cDNA position
(for ins/del: last normal base / first normal base)		 1968
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHA QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QGSSGAPQTS RMPVPMSAKN
RPGTLDKPGK QSKLQDPRQY RQVVLP*
mutated AA sequence MQRELVYARG DGPGAPRPGS TAHPPHAIPN SPPSTPVPHS MPPSPSRIPY GGTRSMVVPG
NATIPRDRIS SLPVSRPISP SPSAILERRD VKPDEDMSGK NIAMYRNEGF YADPYLYHEG
RMSIASSHGG HPLDVPDHII AYHRTAIRSA SAYCNPSMQA EMHMEQSLYR QKSRKYPDSH
LPTLGSKTPP ASPHRVSDLR MIDMHAHYNA HGPPHTMQPD RASPSRQAFK KEPGTLVYIE
KPRSAAGLSS LVDLGPPLME KQVFAYSTAT IPKDRETSEK MMKTTANRNH TDSAGTPHVS
GGKMLSALES TVPPSQPPPV GTSAIHMSLL EMRRSVAELR LQLQQMRQLQ LQNQELLRAM
MKKAELEISG KVMETMKRLE DPVQRQRVLV EQERQKYLHE EEKIVKKLCE LEDFVEDLKK
DSTAASRLVT LKDVEDGAFL LRQVGEAVAT LKGEFPTLQN KMRAILRIEV EAVRFLKEEP
HKLDSLLKRV RSMTDVLTML RRHVTDGLLK GTDAAQAAQY MAMEKATAAE VLKSQEEAAH
TSGQPFHSTG APGDAKSEVV PLSGMMVRHT QSSPVVIQPS QHSVALLNPA QNLPHVASSP
AVPQEATSTL QMSQAPQSPQ IPMNGSAMQS LFIEEIHSVS AKNRAVSIEK AEKKWEEKRQ
NLDHYNGKEF EKLLEEAQAN IMKSIPNLEM PPATGPLPRG DAPVDKVELS EDSPNSEQDL
EKLGGKSPPP PPPPPRRSYL PGSGLTTTRS GDVVYTGRKE NITAKASSED AGPSPQTRAT
KYPAEEPASA WTPSPPPVTT SSSKDEEEEE EEGDKIMAEL QGSSGAPQTS RMPVPMSAKN
RPGTLDKPGK QSKLQDPRQY RQVVLP*
speed 0.86 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: 0.999999971156261 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000376462
Genbank transcript ID NM_001098500
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2419G>A
cDNA.3228G>A
g.829780G>A
AA changes A807T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 807
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      807VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    807VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHV
Trubripes  not conserved  ENSTRUG00000017841  586HVQSSPVHIQQSQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  697PPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
829829CONFLICTT -> M (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
837837MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3795 / 3795
position (AA) of stopcodon in wt / mu AA sequence 1265 / 1265
position of stopcodon in wt / mu cDNA 4604 / 4604
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 810 / 810
chromosome 10
strand 1
last intron/exon boundary 4107
theoretical NMD boundary in CDS 3247
length of CDS 3795
coding sequence (CDS) position 2419
cDNA position
(for ins/del: last normal base / first normal base)		 3228
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR SPKLSHSPQP PSLGDPVEHL
SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK ERSLGVLYLQ YGDETKQLRM
PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES RNVYYELNDV RNIQDRSLLK
VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP GSTAHPPHAI PNSPPSTPVP
HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI SPSPSAILER RDVKPDEDMS
GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH IIAYHRTAIR SASAYCNPSM
QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD LRMIDMHAHY NAHGPPHTMQ
PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL MEKQVFAYST ATIPKDRETR
ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK TTANRNHTDS AGTPHVSGGK
MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL QQMRQLQLQN QELLRAMMKK
AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK IVKKLCELED FVEDLKKDST
AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR AILRIEVEAV RFLKEEPHKL
DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM EKATAAEVLK SQEEAAHTSG
QPFHSTGAPG DAKSEVVPLS GMMVRHAQSS PVVIQPSQHS VALLNPAQNL PHVASSPAVP
QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN RAVSIEKAEK KWEEKRQNLD
HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP VDKVELSEDS PNSEQDLEKL
GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT AKASSEDAGP SPQTRATKYP
AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQGS SGAPQTSRMP VPMSAKNRPG
TLDKPGKQSK LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS
GDSSNLPNPP ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS
PQSQNGRAPP PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA
KETS*
mutated AA sequence MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR SPKLSHSPQP PSLGDPVEHL
SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK ERSLGVLYLQ YGDETKQLRM
PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES RNVYYELNDV RNIQDRSLLK
VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP GSTAHPPHAI PNSPPSTPVP
HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI SPSPSAILER RDVKPDEDMS
GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH IIAYHRTAIR SASAYCNPSM
QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD LRMIDMHAHY NAHGPPHTMQ
PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL MEKQVFAYST ATIPKDRETR
ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK TTANRNHTDS AGTPHVSGGK
MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL QQMRQLQLQN QELLRAMMKK
AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK IVKKLCELED FVEDLKKDST
AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR AILRIEVEAV RFLKEEPHKL
DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM EKATAAEVLK SQEEAAHTSG
QPFHSTGAPG DAKSEVVPLS GMMVRHTQSS PVVIQPSQHS VALLNPAQNL PHVASSPAVP
QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN RAVSIEKAEK KWEEKRQNLD
HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP VDKVELSEDS PNSEQDLEKL
GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT AKASSEDAGP SPQTRATKYP
AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQGS SGAPQTSRMP VPMSAKNRPG
TLDKPGKQSK LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS
GDSSNLPNPP ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS
PQSQNGRAPP PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA
KETS*
speed 1.26 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: 0.999999971156261 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000376454
Genbank transcript ID NM_019590
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2659G>A
cDNA.2689G>A
g.829780G>A
AA changes A887T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 887
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      887VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    887VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  735VVPFSTMTVHHV
Trubripes  not conserved  ENSTRUG00000017841  586HVQSSPVHIQQSQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  845SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  697PPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5832 / 5832
position (AA) of stopcodon in wt / mu AA sequence 1944 / 1944
position of stopcodon in wt / mu cDNA 5862 / 5862
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 31 / 31
chromosome 10
strand 1
last intron/exon boundary 5365
theoretical NMD boundary in CDS 5284
length of CDS 5832
coding sequence (CDS) position 2659
cDNA position
(for ins/del: last normal base / first normal base)		 2689
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETR ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK
TTANRNHTDS AGTPHVSGGK MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL
QQMRQLQLQN QELLRAMMKK AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK
IVKKLCELED FVEDLKKDST AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR
AILRIEVEAV RFLKEEPHKL DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM
EKATAAEVLK SQEEAAHTSG QPFHSTGAPG DAKSEVVPLS GMMVRHAQSS PVVIQPSQHS
VALLNPAQNL PHVASSPAVP QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN
RAVSIEKAEK KWEEKRQNLD HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP
VDKVELSEDS PNSEQDLEKL GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT
AKASSEDAGP SPQTRATKYP AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQAF
QKCSFMDVNS NSHAEPSRAD SHVKDTRSGA TVPPKEKKNL EFFHEDVRKS DVEYENGPQM
EFQKVTTGAV RPSDPPKWER GMENSISDAS RTSEYKTEII MKENSISNMS LLRDSRNYSQ
ETVPKASFGF SGISPLEDEI NKGSKISGLQ YSIPDTENQT LNYGKTKEME KQNTDKCHVS
SHTRLTESSV HDFKTEDQEV ITTDFGQVVL RPKEARHANV NPNEDGESSS SSPTEENAAT
DNIAFMITET TVQVLSSGEV HDIVSQKGED IQTVNIDARK EMTPRQEGTD NEDPVVCLDK
KPVIIIFDEP MDIRSAYKRL STIFEECDEE LERMMMEEKI EEEEEEENGD SVVQNNNTSQ
MSHKKVAPGN LRTGQQVETK SQPHSLATET RNPGGQEMNR TELNKFSHVD SPNSECKGED
ATDDQFESPK KKFKFKFPKK QLAALTQAIR TGTKTGKKTL QVVVYEEEEE DGTLKQHKEA
KRFEIARSQP EDTPENTVRR QEQPSIESTS PISRTDEIRK NTYRTLDSLE QTIKQLENTI
SEMSPKALVD TSCSSNRDSV ASSSHIAQEA SPRPLLVPDE GPTALEPPTS IPSASRKGSS
GAPQTSRMPV PMSAKNRPGT LDKPGKQSKL QDPRQYRQAN GSAKKSGGDF KPTSPSLPAS
KIPALSPSSG KSSSLPSSSG DSSNLPNPPA TKPSIASNPL SPQTGPPAHS ASLIPSVSNG
SLKFQSLTHT GKGHHLSFSP QSQNGRAPPP LSFSSSPPSP ASSVSLNQGA KGTRTIHTPS
LTSYKAQNGS SSKATPSTAK ETS*
mutated AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETR ERMQAMEKQI ASLTGLVQSA LFKGPITSYS KDASSEKMMK
TTANRNHTDS AGTPHVSGGK MLSALESTVP PSQPPPVGTS AIHMSLLEMR RSVAELRLQL
QQMRQLQLQN QELLRAMMKK AELEISGKVM ETMKRLEDPV QRQRVLVEQE RQKYLHEEEK
IVKKLCELED FVEDLKKDST AASRLVTLKD VEDGAFLLRQ VGEAVATLKG EFPTLQNKMR
AILRIEVEAV RFLKEEPHKL DSLLKRVRSM TDVLTMLRRH VTDGLLKGTD AAQAAQYMAM
EKATAAEVLK SQEEAAHTSG QPFHSTGAPG DAKSEVVPLS GMMVRHTQSS PVVIQPSQHS
VALLNPAQNL PHVASSPAVP QEATSTLQMS QAPQSPQIPM NGSAMQSLFI EEIHSVSAKN
RAVSIEKAEK KWEEKRQNLD HYNGKEFEKL LEEAQANIMK SIPNLEMPPA TGPLPRGDAP
VDKVELSEDS PNSEQDLEKL GGKSPPPPPP PPRRSYLPGS GLTTTRSGDV VYTGRKENIT
AKASSEDAGP SPQTRATKYP AEEPASAWTP SPPPVTTSSS KDEEEEEEEG DKIMAELQAF
QKCSFMDVNS NSHAEPSRAD SHVKDTRSGA TVPPKEKKNL EFFHEDVRKS DVEYENGPQM
EFQKVTTGAV RPSDPPKWER GMENSISDAS RTSEYKTEII MKENSISNMS LLRDSRNYSQ
ETVPKASFGF SGISPLEDEI NKGSKISGLQ YSIPDTENQT LNYGKTKEME KQNTDKCHVS
SHTRLTESSV HDFKTEDQEV ITTDFGQVVL RPKEARHANV NPNEDGESSS SSPTEENAAT
DNIAFMITET TVQVLSSGEV HDIVSQKGED IQTVNIDARK EMTPRQEGTD NEDPVVCLDK
KPVIIIFDEP MDIRSAYKRL STIFEECDEE LERMMMEEKI EEEEEEENGD SVVQNNNTSQ
MSHKKVAPGN LRTGQQVETK SQPHSLATET RNPGGQEMNR TELNKFSHVD SPNSECKGED
ATDDQFESPK KKFKFKFPKK QLAALTQAIR TGTKTGKKTL QVVVYEEEEE DGTLKQHKEA
KRFEIARSQP EDTPENTVRR QEQPSIESTS PISRTDEIRK NTYRTLDSLE QTIKQLENTI
SEMSPKALVD TSCSSNRDSV ASSSHIAQEA SPRPLLVPDE GPTALEPPTS IPSASRKGSS
GAPQTSRMPV PMSAKNRPGT LDKPGKQSKL QDPRQYRQAN GSAKKSGGDF KPTSPSLPAS
KIPALSPSSG KSSSLPSSSG DSSNLPNPPA TKPSIASNPL SPQTGPPAHS ASLIPSVSNG
SLKFQSLTHT GKGHHLSFSP QSQNGRAPPP LSFSSSPPSP ASSVSLNQGA KGTRTIHTPS
LTSYKAQNGS SSKATPSTAK ETS*
speed 1.30 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: 0.999999971156261 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000458595
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2554G>A
cDNA.2957G>A
g.829780G>A
AA changes A852T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 852
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      852VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    852VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  741VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  837SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4050 / 4050
position (AA) of stopcodon in wt / mu AA sequence 1350 / 1350
position of stopcodon in wt / mu cDNA 4453 / 4453
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 404 / 404
chromosome 10
strand 1
last intron/exon boundary 3956
theoretical NMD boundary in CDS 3502
length of CDS 4050
coding sequence (CDS) position 2554
cDNA position
(for ins/del: last normal base / first normal base)		 2957
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HAQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSEDSPNSEQ DLEKLGGKSP PPPPPPPRRS
YLPGSGLTTT RSGDVVYTGR KENITAKASS EDAGPSPQTR ATKYPAEEPA SAWTPSPPPV
TTSSSKDEEE EEEEGDKIMA ELQAFQKCSF MDVNSNSHAE PSRADSHVKD TRSGATVPPK
EKKGSSGAPQ TSRMPVPMSA KNRPGTLDKP GKQSKLQDPR QYRQANGSAK KSGGDFKPTS
PSLPASKIPA LSPSSGKSSS LPSSSGDSSN LPNPPATKPS IASNPLSPQT GPPAHSASLI
PSVSNGSLKF QSLTHTGKGH HLSFSPQSQN GRAPPPLSFS SSPPSPASSV SLNQGAKGTR
TIHTPSLTSY KAQNGSSSKA TPSTAKETS*
mutated AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HTQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSEDSPNSEQ DLEKLGGKSP PPPPPPPRRS
YLPGSGLTTT RSGDVVYTGR KENITAKASS EDAGPSPQTR ATKYPAEEPA SAWTPSPPPV
TTSSSKDEEE EEEEGDKIMA ELQAFQKCSF MDVNSNSHAE PSRADSHVKD TRSGATVPPK
EKKGSSGAPQ TSRMPVPMSA KNRPGTLDKP GKQSKLQDPR QYRQANGSAK KSGGDFKPTS
PSLPASKIPA LSPSSGKSSS LPSSSGDSSN LPNPPATKPS IASNPLSPQT GPPAHSASLI
PSVSNGSLKF QSLTHTGKGH HLSFSPQSQN GRAPPPLSFS SSPPSPASSV SLNQGAKGTR
TIHTPSLTSY KAQNGSSSKA TPSTAKETS*
speed 0.96 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: 0.999999971156261 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:24813454G>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA1217
Ensembl transcript ID ENST00000376452
Genbank transcript ID N/A
UniProt peptide Q5T5P2
alteration type single base exchange
alteration region CDS
DNA changes c.2554G>A
cDNA.2575G>A
g.829780G>A
AA changes A852T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 852
frameshift no
known variant Reference ID: rs10828663
databasehomozygous (A/A)heterozygousallele carriers
1000G101737838
ExAC33632067624039
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9980.109
4.0670.326
(flanking)0.8020.187
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased829781wt: 0.9918 / mu: 0.9948 (marginal change - not scored)wt: CCACGCGCAGAGCTC
mu: CCACACGCAGAGCTC		 ACGC|gcag
Donor gained8297760.53mu: GTTCGCCACACGCAG TCGC|caca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      852VVPLSGMMVRHAQSSPVVIQPSQH
mutated  not conserved    852VVPLSGMMVRHTQSSPVVIQPSQ
Ptroglodytes  not conserved  ENSPTRG00000002362  887VVPLSGMTVHHVQSSPVVIQPSQ
Mmulatta  all identical  ENSMMUG00000008376  886VVPLSGMTVHHAQSSPVAIQPSQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036617  938VVPLSTMTVHHVQSSPVVMQPSQ
Ggallus  not conserved  ENSGALG00000007766  741VVPFSTMTVHHVQSSPVVIHQSQ
Trubripes  not conserved  ENSTRUG00000017841  582VMPSSPVVIHHVQSSPVHIQQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0023531  837SKPIAQQQQQQQQQQQQQQQQHQ
Celegans  not conserved  Y71H2AM.15  689TIAMHSAPPSPLTAPIPPPPPPPPPMLPPQQ
Xtropicalis  not conserved  ENSXETG00000005906  769VVPLSAGLRVHQV
protein features
start (aa)end (aa)featuredetails 
914914CONFLICTA -> P (in Ref. 1; BX648451).might get lost (downstream of altered splice site)
957985COILEDPotential.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12671267CONFLICTS -> N (in Ref. 8; BAC86241).might get lost (downstream of altered splice site)
13061306CONFLICTT -> A (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
14641490COILEDPotential.might get lost (downstream of altered splice site)
16561686COILEDPotential.might get lost (downstream of altered splice site)
17431743CONFLICTP -> L (in Ref. 1; AL833280).might get lost (downstream of altered splice site)
17941905COMPBIASSer-rich.might get lost (downstream of altered splice site)
18961896MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
18991899MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
19021902MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4125 / 4125
position (AA) of stopcodon in wt / mu AA sequence 1375 / 1375
position of stopcodon in wt / mu cDNA 4146 / 4146
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 22 / 22
chromosome 10
strand 1
last intron/exon boundary 3649
theoretical NMD boundary in CDS 3577
length of CDS 4125
coding sequence (CDS) position 2554
cDNA position
(for ins/del: last normal base / first normal base)		 2575
gDNA position
(for ins/del: last normal base / first normal base)		 829780
chromosomal position
(for ins/del: last normal base / first normal base)		 24813454
original gDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered gDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
original cDNA sequence snippet CCGGCATGATGGTTCGCCACGCGCAGAGCTCCCCTGTGGTC
altered cDNA sequence snippet CCGGCATGATGGTTCGCCACACGCAGAGCTCCCCTGTGGTC
wildtype AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HAQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSDSPNSEQD LEKLGGKSPP PPPPPPRRSY
LPGSGLTTTR SGDVVYTGRK ENITAKASSE DAGPSPQTRA TKYPAEEPAS AWTPSPPPVT
TSSSKDEEEE EEEGDKIMAE LQAFQKCSFM DVNSNSHAEP SRADSHVKDT RSGATVPPKE
KKNLEFFHED VRKSDVEYEN GPQMEFQKGS SGAPQTSRMP VPMSAKNRPG TLDKPGKQSK
LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS GDSSNLPNPP
ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS PQSQNGRAPP
PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA KETS*
mutated AA sequence MEENESQKCE PCLPYSADRR QMQEQGKGNL HVTSPEDAEC RRTKERLSNG NSRGSVSKSS
RNIPRRHTLG GPRSSKEILG MQTSEMDRKR EAFLEHLKQK YPHHASAIMG HQERLRDQTR
SPKLSHSPQP PSLGDPVEHL SETSADSLEA MSEGDAPTPF SRGSRTRASL PVVRSTNQTK
ERSLGVLYLQ YGDETKQLRM PNEITSADTI RALFVSAFPQ QLTMKMLESP SVAIYIKDES
RNVYYELNDV RNIQDRSLLK VYNKDPAHAF NHTPKTMNGD MRMQRELVYA RGDGPGAPRP
GSTAHPPHAI PNSPPSTPVP HSMPPSPSRI PYGGTRSMVV PGNATIPRDR ISSLPVSRPI
SPSPSAILER RDVKPDEDMS GKNIAMYRNE GFYADPYLYH EGRMSIASSH GGHPLDVPDH
IIAYHRTAIR SASAYCNPSM QAEMHMEQSL YRQKSRKYPD SHLPTLGSKT PPASPHRVSD
LRMIDMHAHY NAHGPPHTMQ PDRASPSRQA FKKEPGTLVY IEKPRSAAGL SSLVDLGPPL
MEKQVFAYST ATIPKDRETS EKMMKTTANR NHTDSAGTPH VSGGKMLSAL ESTVPPSQPP
PVGTSAIHMS LLEMRRSVAE LRLQLQQMRQ LQLQNQELLR AMMKKAELEI SGKVMETMKR
LEDPVQRQRV LVEQERQKYL HEEEKIVKKL CELEDFVEDL KKDSTAASRL VTLKDVEDGA
FLLRQVGEAV ATLKGEFPTL QNKMRAILRI EVEAVRFLKE EPHKLDSLLK RVRSMTDVLT
MLRRHVTDGL LKGTDAAQAA QYMAMEKATA AEVLKSQEEA AHTSGQPFHS TGAPGDAKSE
VVPLSGMMVR HTQSSPVVIQ PSQHSVALLN PAQNLPHVAS SPAVPQEATS TLQMSQAPQS
PQIPMNGSAM QSLFIEEIHS VSAKNRAVSI EKAEKKWEEK RQNLDHYNGK EFEKLLEEAQ
ANIMKSIPNL EMPPATGPLP RGDAPVDKVE LSDSPNSEQD LEKLGGKSPP PPPPPPRRSY
LPGSGLTTTR SGDVVYTGRK ENITAKASSE DAGPSPQTRA TKYPAEEPAS AWTPSPPPVT
TSSSKDEEEE EEEGDKIMAE LQAFQKCSFM DVNSNSHAEP SRADSHVKDT RSGATVPPKE
KKNLEFFHED VRKSDVEYEN GPQMEFQKGS SGAPQTSRMP VPMSAKNRPG TLDKPGKQSK
LQDPRQYRQA NGSAKKSGGD FKPTSPSLPA SKIPALSPSS GKSSSLPSSS GDSSNLPNPP
ATKPSIASNP LSPQTGPPAH SASLIPSVSN GSLKFQSLTH TGKGHHLSFS PQSQNGRAPP
PLSFSSSPPS PASSVSLNQG AKGTRTIHTP SLTSYKAQNG SSSKATPSTA KETS*
speed 0.96 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
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Problems