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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000394818
Querying Taster for transcript #2: ENST00000278849
MT speed 1.01 s - this script 3.041562 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
INCENPpolymorphism_automatic0.981708304301215simple_aaeaffectedE640Dsingle base exchangers7129085show file
INCENPpolymorphism_automatic0.989641517561229simple_aaeaffectedE644Dsingle base exchangers7129085show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0182916956987847 (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) chr11:61913196G>TN/A show variant in all transcripts   IGV
HGNC symbol INCENP
Ensembl transcript ID ENST00000278849
Genbank transcript ID NM_020238
UniProt peptide Q9NQS7
alteration type single base exchange
alteration region CDS
DNA changes c.1920G>T
cDNA.2097G>T
g.21752G>T
AA changes E640D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 640
frameshift no
known variant Reference ID: rs7129085
databasehomozygous (T/T)heterozygousallele carriers
1000G3268201146
ExAC352860049532
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4911
0.4170.999
(flanking)2.5381
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased21755wt: 0.30 / mu: 0.52wt: GAGGCACGTAGGCTC
mu: GATGCACGTAGGCTC		 GGCA|cgta
Donor gained217470.37mu: AGGAAGAGGATGCAC GAAG|agga
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      640EEVEARRKQEEEARRLRWLQQEEE
mutated  all conserved    640EEVEARRKQEEDARRLRWLQQEE
Ptroglodytes  all identical  ENSPTRG00000003760  644EEVEARRKQEEEARRLRWLQQEE
Mmulatta  all identical  ENSMMUG00000004420  639EEVEARRKQEEEARRLRWLQQEE
Fcatus  no alignment  ENSFCAG00000002264  n/a
Mmusculus  all identical  ENSMUSG00000024660  615EEVEARRKQEEEARRLRWLQQEE
Ggallus  all identical  ENSGALG00000007537  612EARKQKALQQEE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0260991  624EE---RKRQELEELQRKMRQQEE
Celegans  not conserved  Y39G10AR.13  362ELSPSRELQRNGSRQVKMEPMSC
Xtropicalis  all identical  ENSXETG00000006735  621EEVECRRRQEEEARK
protein features
start (aa)end (aa)featuredetails 
528791COILEDPotential.lost
715715CONFLICTQ -> QERREQ (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
793793MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
804806CONFLICTYQM -> SPI (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
812812CONFLICTR -> K (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
816816CONFLICTK -> Q (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
820820CONFLICTD -> H (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
822822MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
828828MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
831831MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
844846HELIXmight get lost (downstream of altered splice site)
848860HELIXmight get lost (downstream of altered splice site)
861861CONFLICTH -> Q (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
865869HELIXmight get lost (downstream of altered splice site)
878880TURNmight get lost (downstream of altered splice site)
892892MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
893893MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
894894MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
899899MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2745 / 2745
position (AA) of stopcodon in wt / mu AA sequence 915 / 915
position of stopcodon in wt / mu cDNA 2922 / 2922
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 178 / 178
chromosome 11
strand 1
last intron/exon boundary 2708
theoretical NMD boundary in CDS 2480
length of CDS 2745
coding sequence (CDS) position 1920
cDNA position
(for ins/del: last normal base / first normal base)		 2097
gDNA position
(for ins/del: last normal base / first normal base)		 21752
chromosomal position
(for ins/del: last normal base / first normal base)		 61913196
original gDNA sequence snippet CGCAGGAAGCAGGAAGAGGAGGCACGTAGGCTCAGGTGGCT
altered gDNA sequence snippet CGCAGGAAGCAGGAAGAGGATGCACGTAGGCTCAGGTGGCT
original cDNA sequence snippet CGCAGGAAGCAGGAAGAGGAGGCACGTAGGCTCAGGTGGCT
altered cDNA sequence snippet CGCAGGAAGCAGGAAGAGGATGCACGTAGGCTCAGGTGGCT
wildtype AA sequence MGTTAPGPIH LLELCDQKLM EFLCNMDNKD LVWLEEIQEE AERMFTREFS KEPELMPKTP
SQKNRRKKRR ISYVQDENRD PIRRRLSRRK SRSSQLSSRR LRSKDSVEKL ATVVGENGSV
LRRVTRAAAA AAAATMALAA PSSPTPESPT MLTKKPEDNH TQCQLVPVVE IGISERQNAE
QHVTQLMSTE PLPRTLSPTP ASATAPTSQG IPTSDEESTP KKSKARILES ITVSSLMATP
QDPKGQGVGT GRSASKLRIA QVSPGPRDSP AFPDSPWRER VLAPILPDNF STPTGSRTDS
QSVRHSPIAP SSPSPQVLAQ KYSLVAKQES VVRRASRRLA KKTAEEPAAS GRIICHSYLE
RLLNVEVPQK VGSEQKEPPE EAEPVAAAEP EVPENNGNNS WPHNDTEIAN STPNPKPAAS
SPETPSAGQQ EAKTDQADGP REPPQSARRK RSYKQAVSEL DEEQHLEDEE LQPPRSKTPS
SPCPASKVVR PLRTFLHTVQ RNQMLMTPTS APRSVMKSFI KRNTPLRMDP KEKERQRLEN
LRRKEEAEQL RRQKVEEDKR RRLEEVKLKR EERLRKVLQA RERVEQMKEE KKKQIEQKFA
QIDEKTEKAK EERLAEEKAK KKAAAKKMEE VEARRKQEEE ARRLRWLQQE EEERRHQELL
QKKKEEEQER LRKAAEAKRL AEQREQERRE QERREQERRE QERREQERRE QERQLAEQER
RREQERLQAE RELQEREKAL RLQKEQLQRE LEEKKKKEEQ QRLAERQLQE EQEKKAKEAA
GASKALNVTV DVQSPACTSY QMTPQGHRAP PKINPDNYGM DLNSDDSTDD EAHPRKPIPT
WARGTPLSQA IIHQYYHPPN LLELFGTILP LDLEDIFKKS KPRYHKRTSS AVWNSPPLQG
ARVPSSLAYS LKKH*
mutated AA sequence MGTTAPGPIH LLELCDQKLM EFLCNMDNKD LVWLEEIQEE AERMFTREFS KEPELMPKTP
SQKNRRKKRR ISYVQDENRD PIRRRLSRRK SRSSQLSSRR LRSKDSVEKL ATVVGENGSV
LRRVTRAAAA AAAATMALAA PSSPTPESPT MLTKKPEDNH TQCQLVPVVE IGISERQNAE
QHVTQLMSTE PLPRTLSPTP ASATAPTSQG IPTSDEESTP KKSKARILES ITVSSLMATP
QDPKGQGVGT GRSASKLRIA QVSPGPRDSP AFPDSPWRER VLAPILPDNF STPTGSRTDS
QSVRHSPIAP SSPSPQVLAQ KYSLVAKQES VVRRASRRLA KKTAEEPAAS GRIICHSYLE
RLLNVEVPQK VGSEQKEPPE EAEPVAAAEP EVPENNGNNS WPHNDTEIAN STPNPKPAAS
SPETPSAGQQ EAKTDQADGP REPPQSARRK RSYKQAVSEL DEEQHLEDEE LQPPRSKTPS
SPCPASKVVR PLRTFLHTVQ RNQMLMTPTS APRSVMKSFI KRNTPLRMDP KEKERQRLEN
LRRKEEAEQL RRQKVEEDKR RRLEEVKLKR EERLRKVLQA RERVEQMKEE KKKQIEQKFA
QIDEKTEKAK EERLAEEKAK KKAAAKKMEE VEARRKQEED ARRLRWLQQE EEERRHQELL
QKKKEEEQER LRKAAEAKRL AEQREQERRE QERREQERRE QERREQERRE QERQLAEQER
RREQERLQAE RELQEREKAL RLQKEQLQRE LEEKKKKEEQ QRLAERQLQE EQEKKAKEAA
GASKALNVTV DVQSPACTSY QMTPQGHRAP PKINPDNYGM DLNSDDSTDD EAHPRKPIPT
WARGTPLSQA IIHQYYHPPN LLELFGTILP LDLEDIFKKS KPRYHKRTSS AVWNSPPLQG
ARVPSSLAYS LKKH*
speed 0.52 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: 0.0103584824387709 (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) chr11:61913196G>TN/A show variant in all transcripts   IGV
HGNC symbol INCENP
Ensembl transcript ID ENST00000394818
Genbank transcript ID NM_001040694
UniProt peptide Q9NQS7
alteration type single base exchange
alteration region CDS
DNA changes c.1932G>T
cDNA.2134G>T
g.21752G>T
AA changes E644D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 644
frameshift no
known variant Reference ID: rs7129085
databasehomozygous (T/T)heterozygousallele carriers
1000G3268201146
ExAC352860049532
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4911
0.4170.999
(flanking)2.5381
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased21755wt: 0.30 / mu: 0.52wt: GAGGCACGTAGGCTC
mu: GATGCACGTAGGCTC		 GGCA|cgta
Donor gained217470.37mu: AGGAAGAGGATGCAC GAAG|agga
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      644EEVEARRKQEEEARRLRWLQQEEE
mutated  all conserved    644EEVEARRKQEEDARRLRWLQQEE
Ptroglodytes  all identical  ENSPTRG00000003760  644EEVEARRKQEEEARRLRWLQQEE
Mmulatta  all identical  ENSMMUG00000004420  639EEVEARRKQEEEARRLRWLQQEE
Fcatus  no alignment  ENSFCAG00000002264  n/a
Mmusculus  all identical  ENSMUSG00000024660  615EEVEARRKQEEEARRLRWL
Ggallus  all identical  ENSGALG00000007537  612RQDEEARKQKALQQEE
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0260991  626EE---RKRQELEELQRKMRQQEE
Celegans  all conserved  Y39G10AR.13  333KGKVEILIGSDGQKTAPVAQPT
Xtropicalis  all identical  ENSXETG00000006735  621EARKLKAKQMEE
protein features
start (aa)end (aa)featuredetails 
528791COILEDPotential.lost
715715CONFLICTQ -> QERREQ (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
793793MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
804806CONFLICTYQM -> SPI (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
812812CONFLICTR -> K (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
816816CONFLICTK -> Q (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
820820CONFLICTD -> H (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
822822MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
828828MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
831831MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
844846HELIXmight get lost (downstream of altered splice site)
848860HELIXmight get lost (downstream of altered splice site)
861861CONFLICTH -> Q (in Ref. 1; AAF87584).might get lost (downstream of altered splice site)
865869HELIXmight get lost (downstream of altered splice site)
878880TURNmight get lost (downstream of altered splice site)
892892MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
893893MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
894894MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
899899MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2757 / 2757
position (AA) of stopcodon in wt / mu AA sequence 919 / 919
position of stopcodon in wt / mu cDNA 2959 / 2959
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 203 / 203
chromosome 11
strand 1
last intron/exon boundary 2745
theoretical NMD boundary in CDS 2492
length of CDS 2757
coding sequence (CDS) position 1932
cDNA position
(for ins/del: last normal base / first normal base)		 2134
gDNA position
(for ins/del: last normal base / first normal base)		 21752
chromosomal position
(for ins/del: last normal base / first normal base)		 61913196
original gDNA sequence snippet CGCAGGAAGCAGGAAGAGGAGGCACGTAGGCTCAGGTGGCT
altered gDNA sequence snippet CGCAGGAAGCAGGAAGAGGATGCACGTAGGCTCAGGTGGCT
original cDNA sequence snippet CGCAGGAAGCAGGAAGAGGAGGCACGTAGGCTCAGGTGGCT
altered cDNA sequence snippet CGCAGGAAGCAGGAAGAGGATGCACGTAGGCTCAGGTGGCT
wildtype AA sequence MGTTAPGPIH LLELCDQKLM EFLCNMDNKD LVWLEEIQEE AERMFTREFS KEPELMPKTP
SQKNRRKKRR ISYVQDENRD PIRRRLSRRK SRSSQLSSRR LRSKDSVEKL ATVVGENGSV
LRRVTRAAAA AAAATMALAA PSSPTPESPT MLTKKPEDNH TQCQLVPVVE IGISERQNAE
QHVTQLMSTE PLPRTLSPTP ASATAPTSQG IPTSDEESTP KKSKARILES ITVSSLMATP
QDPKGQGVGT GRSASKLRIA QVSPGPRDSP AFPDSPWRER VLAPILPDNF STPTGSRTDS
QSVRHSPIAP SSPSPQVLAQ KYSLVAKQES VVRRASRRLA KKTAEEPAAS GRIICHSYLE
RLLNVEVPQK VGSEQKEPPE EAEPVAAAEP EVPENNGNNS WPHNDTEIAN STPNPKPAAS
SPETPSAGQQ EAKTDQADGP REPPQSARRK RSYKQAVSEL DEEQHLEDEE LQPPRSKTPS
SPCPASKVVR PLRTFLHTVQ RNQMLMTPTS APRSVMKSFI KRNTPLRMDP KCSFVEKERQ
RLENLRRKEE AEQLRRQKVE EDKRRRLEEV KLKREERLRK VLQARERVEQ MKEEKKKQIE
QKFAQIDEKT EKAKEERLAE EKAKKKAAAK KMEEVEARRK QEEEARRLRW LQQEEEERRH
QELLQKKKEE EQERLRKAAE AKRLAEQREQ ERREQERREQ ERREQERREQ ERREQERQLA
EQERRREQER LQAERELQER EKALRLQKEQ LQRELEEKKK KEEQQRLAER QLQEEQEKKA
KEAAGASKAL NVTVDVQSPA CTSYQMTPQG HRAPPKINPD NYGMDLNSDD STDDEAHPRK
PIPTWARGTP LSQAIIHQYY HPPNLLELFG TILPLDLEDI FKKSKPRYHK RTSSAVWNSP
PLQGARVPSS LAYSLKKH*
mutated AA sequence MGTTAPGPIH LLELCDQKLM EFLCNMDNKD LVWLEEIQEE AERMFTREFS KEPELMPKTP
SQKNRRKKRR ISYVQDENRD PIRRRLSRRK SRSSQLSSRR LRSKDSVEKL ATVVGENGSV
LRRVTRAAAA AAAATMALAA PSSPTPESPT MLTKKPEDNH TQCQLVPVVE IGISERQNAE
QHVTQLMSTE PLPRTLSPTP ASATAPTSQG IPTSDEESTP KKSKARILES ITVSSLMATP
QDPKGQGVGT GRSASKLRIA QVSPGPRDSP AFPDSPWRER VLAPILPDNF STPTGSRTDS
QSVRHSPIAP SSPSPQVLAQ KYSLVAKQES VVRRASRRLA KKTAEEPAAS GRIICHSYLE
RLLNVEVPQK VGSEQKEPPE EAEPVAAAEP EVPENNGNNS WPHNDTEIAN STPNPKPAAS
SPETPSAGQQ EAKTDQADGP REPPQSARRK RSYKQAVSEL DEEQHLEDEE LQPPRSKTPS
SPCPASKVVR PLRTFLHTVQ RNQMLMTPTS APRSVMKSFI KRNTPLRMDP KCSFVEKERQ
RLENLRRKEE AEQLRRQKVE EDKRRRLEEV KLKREERLRK VLQARERVEQ MKEEKKKQIE
QKFAQIDEKT EKAKEERLAE EKAKKKAAAK KMEEVEARRK QEEDARRLRW LQQEEEERRH
QELLQKKKEE EQERLRKAAE AKRLAEQREQ ERREQERREQ ERREQERREQ ERREQERQLA
EQERRREQER LQAERELQER EKALRLQKEQ LQRELEEKKK KEEQQRLAER QLQEEQEKKA
KEAAGASKAL NVTVDVQSPA CTSYQMTPQG HRAPPKINPD NYGMDLNSDD STDDEAHPRK
PIPTWARGTP LSQAIIHQYY HPPNLLELFG TILPLDLEDI FKKSKPRYHK RTSSAVWNSP
PLQGARVPSS LAYSLKKH*
speed 0.49 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