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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000545889
Querying Taster for transcript #2: ENST00000302528
Querying Taster for transcript #3: ENST00000537178
Querying Taster for transcript #4: ENST00000540338
Querying Taster for transcript #5: ENST00000358808
MT speed 0 s - this script 5.372812 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CLIP1polymorphism_automatic0.036242249570297simple_aaeaffectedD1069Esingle base exchangers1129167show file
CLIP1polymorphism_automatic0.036242249570297simple_aaeaffectedD1034Esingle base exchangers1129167show file
CLIP1polymorphism_automatic0.036242249570297simple_aaeaffectedD1080Esingle base exchangers1129167show file
CLIP1polymorphism_automatic0.036242249570297simple_aaeaffectedD1069Esingle base exchangers1129167show file
CLIP1polymorphism_automatic0.296051095034894simple_aaeaffectedD655Esingle base exchangers1129167show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.963757750429703 (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) chr12:122812503G>CN/A show variant in all transcripts   IGV
HGNC symbol CLIP1
Ensembl transcript ID ENST00000302528
Genbank transcript ID N/A
UniProt peptide P30622
alteration type single base exchange
alteration region CDS
DNA changes c.3207C>G
cDNA.3315C>G
g.94677C>G
AA changes D1069E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1069
frameshift no
known variant Reference ID: rs1129167
databasehomozygous (C/C)heterozygousallele carriers
1000G5449481492
ExAC20626-848512141
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2640.848
0.0130.848
(flanking)3.6080.986
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 increased94680wt: 0.9718 / mu: 0.9725 (marginal change - not scored)wt: GACAAAGCCAAAGTA
mu: GAGAAAGCCAAAGTA		 CAAA|gcca
Donor marginally increased94681wt: 0.9895 / mu: 0.9936 (marginal change - not scored)wt: ACAAAGCCAAAGTAC
mu: AGAAAGCCAAAGTAC		 AAAG|ccaa
Donor marginally increased94671wt: 0.9428 / mu: 0.9960 (marginal change - not scored)wt: AAGCAAGCCGACAAA
mu: AAGCAAGCCGAGAAA		 GCAA|gccg
Donor marginally increased94674wt: 0.9877 / mu: 0.9910 (marginal change - not scored)wt: CAAGCCGACAAAGCC
mu: CAAGCCGAGAAAGCC		 AGCC|gaca
Donor gained946760.66mu: AGCCGAGAAAGCCAA CCGA|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1069LQELEELRKQADKAKAAQTAEDAM
mutated  all conserved    1069LQELEELRKQAEKAKAAQTAEDA
Ptroglodytes  all identical  ENSPTRG00000005578  1064LQELEELRKQADKAKAAQTAEDA
Mmulatta  all identical  ENSMMUG00000021928  1069LQELEELRKQADKAKAAQTAEDA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049550  1079MQDMEELKTQADKAKAAQTAEDA
Ggallus  all conserved  ENSGALG00000004467  1064ETQAEELKKQAEQAKADKRA
Trubripes  all conserved  ENSTRUG00000007660  1063SELQAYKEQAQATETSGKT
Drerio  all conserved  ENSDARG00000078722  1040RKQIEELMTFKEKTA
Dmelanogaster  not conserved  FBgn0020503  1111LQHKEKMASEDAQKIADLKTLVEA
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003780  1036KGQMEDLKQEAEQIKV
protein features
start (aa)end (aa)featuredetails 
3501353COILEDPotential.lost
13641364MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171434ZN_FINGCCHC-type.might get lost (downstream of altered splice site)
14201423TURNmight get lost (downstream of altered splice site)
14241427STRANDmight get lost (downstream of altered splice site)
14291431HELIXmight get lost (downstream of altered splice site)
14321432CONFLICTC -> R (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4284 / 4284
position (AA) of stopcodon in wt / mu AA sequence 1428 / 1428
position of stopcodon in wt / mu cDNA 4392 / 4392
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 109 / 109
chromosome 12
strand -1
last intron/exon boundary 4167
theoretical NMD boundary in CDS 4008
length of CDS 4284
coding sequence (CDS) position 3207
cDNA position
(for ins/del: last normal base / first normal base)		 3315
gDNA position
(for ins/del: last normal base / first normal base)		 94677
chromosomal position
(for ins/del: last normal base / first normal base)		 122812503
original gDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGTACGTGACGC
altered gDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGTACGTGACGC
original cDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGCTGCTCAAAC
altered cDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGCTGCTCAAAC
wildtype AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLETQTK LEHARIKELE QSLLFEKTKA
DKLQRELEDT RVATVSEKSR IMELEKDLAL RVQEVAELRR RLESNKPAGD VDMSLSLLQE
ISSLQEKLEV TRTDHQREIT SLKEHFGARE ETHQKEIKAL YTATEKLSKE NESLKSKLEH
ANKENSDVIA LWKSKLETAI ASHQQAMEEL KVSFSKGLGT ETAEFAELKT QIEKMRLDYQ
HEIENLQNQQ DSERAAHAKE MEALRAKLMK VIKEKENSLE AIRSKLDKAE DQHLVEMEDT
LNKLQEAEIK VKELEVLQAK CNEQTKVIDN FTSQLKATEE KLLDLDALRK ASSEGKSEMK
KLRQQLEAAE KQIKHLEIEK NAESSKASSI TRELQGRELK LTNLQENLSE VSQVKETLEK
ELQILKEKFA EASEEAVSVQ RSMQETVNKL HQKEEQFNML SSDLEKLREN LADMEAKFRE
KDEREEQLIK AKEKLENDIA EIMKMSGDNS SQLTKMNDEL RLKERDVEEL QLKLTKANEN
ASFLQKSIED MTVKAEQSQQ EAAKKHEEEK KELERKLSDL EKKMETSHNQ CQELKARYER
ATSETKTKHE EILQNLQKTL LDTEDKLKGA REENSGLLQE LEELRKQADK AKAAQTAEDA
MQIMEQMTKE KTETLASLED TKQTNAKLQN ELDTLKENNL KNVEELNKSK ELLTVENQKM
EEFRKEIETL KQAAAQKSQQ LSALQEENVK LAEELGRSRD EVTSHQKLEE ERSVLNNQLL
EMKKRESKFI KDADEEKASL QKSISITSAL LTEKDAELEK LRNEVTVLRG ENASAKSLHS
VVQTLESDKV KLELKVKNLE LQLKENKRQL SSSSGNTDTQ ADEDERAQES QIDFLNSVIV
DLQRKNQDLK MKVEMMSEAA LNGNGDDLNN YDSDDQEKQS KKKPRLFCDI CDCFDLHDTE
DCPTQAQMSE DPPHSTHHGS RGEERPYCEI CEMFGHWATN CNDDETF*
mutated AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLETQTK LEHARIKELE QSLLFEKTKA
DKLQRELEDT RVATVSEKSR IMELEKDLAL RVQEVAELRR RLESNKPAGD VDMSLSLLQE
ISSLQEKLEV TRTDHQREIT SLKEHFGARE ETHQKEIKAL YTATEKLSKE NESLKSKLEH
ANKENSDVIA LWKSKLETAI ASHQQAMEEL KVSFSKGLGT ETAEFAELKT QIEKMRLDYQ
HEIENLQNQQ DSERAAHAKE MEALRAKLMK VIKEKENSLE AIRSKLDKAE DQHLVEMEDT
LNKLQEAEIK VKELEVLQAK CNEQTKVIDN FTSQLKATEE KLLDLDALRK ASSEGKSEMK
KLRQQLEAAE KQIKHLEIEK NAESSKASSI TRELQGRELK LTNLQENLSE VSQVKETLEK
ELQILKEKFA EASEEAVSVQ RSMQETVNKL HQKEEQFNML SSDLEKLREN LADMEAKFRE
KDEREEQLIK AKEKLENDIA EIMKMSGDNS SQLTKMNDEL RLKERDVEEL QLKLTKANEN
ASFLQKSIED MTVKAEQSQQ EAAKKHEEEK KELERKLSDL EKKMETSHNQ CQELKARYER
ATSETKTKHE EILQNLQKTL LDTEDKLKGA REENSGLLQE LEELRKQAEK AKAAQTAEDA
MQIMEQMTKE KTETLASLED TKQTNAKLQN ELDTLKENNL KNVEELNKSK ELLTVENQKM
EEFRKEIETL KQAAAQKSQQ LSALQEENVK LAEELGRSRD EVTSHQKLEE ERSVLNNQLL
EMKKRESKFI KDADEEKASL QKSISITSAL LTEKDAELEK LRNEVTVLRG ENASAKSLHS
VVQTLESDKV KLELKVKNLE LQLKENKRQL SSSSGNTDTQ ADEDERAQES QIDFLNSVIV
DLQRKNQDLK MKVEMMSEAA LNGNGDDLNN YDSDDQEKQS KKKPRLFCDI CDCFDLHDTE
DCPTQAQMSE DPPHSTHHGS RGEERPYCEI CEMFGHWATN CNDDETF*
speed 0.95 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: 0.963757750429703 (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) chr12:122812503G>CN/A show variant in all transcripts   IGV
HGNC symbol CLIP1
Ensembl transcript ID ENST00000537178
Genbank transcript ID NM_198240
UniProt peptide P30622
alteration type single base exchange
alteration region CDS
DNA changes c.3102C>G
cDNA.3320C>G
g.94677C>G
AA changes D1034E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1034
frameshift no
known variant Reference ID: rs1129167
databasehomozygous (C/C)heterozygousallele carriers
1000G5449481492
ExAC20626-848512141
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2640.848
0.0130.848
(flanking)3.6080.986
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 increased94680wt: 0.9718 / mu: 0.9725 (marginal change - not scored)wt: GACAAAGCCAAAGTA
mu: GAGAAAGCCAAAGTA		 CAAA|gcca
Donor marginally increased94681wt: 0.9895 / mu: 0.9936 (marginal change - not scored)wt: ACAAAGCCAAAGTAC
mu: AGAAAGCCAAAGTAC		 AAAG|ccaa
Donor marginally increased94671wt: 0.9428 / mu: 0.9960 (marginal change - not scored)wt: AAGCAAGCCGACAAA
mu: AAGCAAGCCGAGAAA		 GCAA|gccg
Donor marginally increased94674wt: 0.9877 / mu: 0.9910 (marginal change - not scored)wt: CAAGCCGACAAAGCC
mu: CAAGCCGAGAAAGCC		 AGCC|gaca
Donor gained946760.66mu: AGCCGAGAAAGCCAA CCGA|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1034LQELEELRKQADKAKAAQTAEDAM
mutated  all conserved    1034LQELEELRKQAEKAKAAQTAEDA
Ptroglodytes  all identical  ENSPTRG00000005578  1064LQELEELRKQADKAKAAQTAEDA
Mmulatta  all identical  ENSMMUG00000021928  1069LQELEELRKQADKAKAAQTAEDA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049550  1079MQDMEELKTQADKAKAAQTAEDA
Ggallus  all conserved  ENSGALG00000004467  1064ETQAEELKKQAEQAKADKRA
Trubripes  all conserved  ENSTRUG00000007660  1063SELQAYKEQAQATETSGKT
Drerio  all conserved  ENSDARG00000078722  1040RKQIEELMTFKEKTA
Dmelanogaster  not conserved  FBgn0020503  1111LQHKEKMASEDAQKIADLKTLVEA
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003780  1036KGQMEDLKQEAEQIKVCQMAEES
protein features
start (aa)end (aa)featuredetails 
3501353COILEDPotential.lost
13641364MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171434ZN_FINGCCHC-type.might get lost (downstream of altered splice site)
14201423TURNmight get lost (downstream of altered splice site)
14241427STRANDmight get lost (downstream of altered splice site)
14291431HELIXmight get lost (downstream of altered splice site)
14321432CONFLICTC -> R (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4179 / 4179
position (AA) of stopcodon in wt / mu AA sequence 1393 / 1393
position of stopcodon in wt / mu cDNA 4397 / 4397
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 219 / 219
chromosome 12
strand -1
last intron/exon boundary 4172
theoretical NMD boundary in CDS 3903
length of CDS 4179
coding sequence (CDS) position 3102
cDNA position
(for ins/del: last normal base / first normal base)		 3320
gDNA position
(for ins/del: last normal base / first normal base)		 94677
chromosomal position
(for ins/del: last normal base / first normal base)		 122812503
original gDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGTACGTGACGC
altered gDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGTACGTGACGC
original cDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGCTGCTCAAAC
altered cDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGCTGCTCAAAC
wildtype AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLEVATV SEKSRIMELE KDLALRVQEV
AELRRRLESN KPAGDVDMSL SLLQEISSLQ EKLEVTRTDH QREITSLKEH FGAREETHQK
EIKALYTATE KLSKENESLK SKLEHANKEN SDVIALWKSK LETAIASHQQ AMEELKVSFS
KGLGTETAEF AELKTQIEKM RLDYQHEIEN LQNQQDSERA AHAKEMEALR AKLMKVIKEK
ENSLEAIRSK LDKAEDQHLV EMEDTLNKLQ EAEIKVKELE VLQAKCNEQT KVIDNFTSQL
KATEEKLLDL DALRKASSEG KSEMKKLRQQ LEAAEKQIKH LEIEKNAESS KASSITRELQ
GRELKLTNLQ ENLSEVSQVK ETLEKELQIL KEKFAEASEE AVSVQRSMQE TVNKLHQKEE
QFNMLSSDLE KLRENLADME AKFREKDERE EQLIKAKEKL ENDIAEIMKM SGDNSSQLTK
MNDELRLKER DVEELQLKLT KANENASFLQ KSIEDMTVKA EQSQQEAAKK HEEEKKELER
KLSDLEKKME TSHNQCQELK ARYERATSET KTKHEEILQN LQKTLLDTED KLKGAREENS
GLLQELEELR KQADKAKAAQ TAEDAMQIME QMTKEKTETL ASLEDTKQTN AKLQNELDTL
KENNLKNVEE LNKSKELLTV ENQKMEEFRK EIETLKQAAA QKSQQLSALQ EENVKLAEEL
GRSRDEVTSH QKLEEERSVL NNQLLEMKKR ESKFIKDADE EKASLQKSIS ITSALLTEKD
AELEKLRNEV TVLRGENASA KSLHSVVQTL ESDKVKLELK VKNLELQLKE NKRQLSSSSG
NTDTQADEDE RAQESQIDFL NSVIVDLQRK NQDLKMKVEM MSEAALNGNG DDLNNYDSDD
QEKQSKKKPR LFCDICDCFD LHDTEDCPTQ AQMSEDPPHS THHGSRGEER PYCEICEMFG
HWATNCNDDE TF*
mutated AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLEVATV SEKSRIMELE KDLALRVQEV
AELRRRLESN KPAGDVDMSL SLLQEISSLQ EKLEVTRTDH QREITSLKEH FGAREETHQK
EIKALYTATE KLSKENESLK SKLEHANKEN SDVIALWKSK LETAIASHQQ AMEELKVSFS
KGLGTETAEF AELKTQIEKM RLDYQHEIEN LQNQQDSERA AHAKEMEALR AKLMKVIKEK
ENSLEAIRSK LDKAEDQHLV EMEDTLNKLQ EAEIKVKELE VLQAKCNEQT KVIDNFTSQL
KATEEKLLDL DALRKASSEG KSEMKKLRQQ LEAAEKQIKH LEIEKNAESS KASSITRELQ
GRELKLTNLQ ENLSEVSQVK ETLEKELQIL KEKFAEASEE AVSVQRSMQE TVNKLHQKEE
QFNMLSSDLE KLRENLADME AKFREKDERE EQLIKAKEKL ENDIAEIMKM SGDNSSQLTK
MNDELRLKER DVEELQLKLT KANENASFLQ KSIEDMTVKA EQSQQEAAKK HEEEKKELER
KLSDLEKKME TSHNQCQELK ARYERATSET KTKHEEILQN LQKTLLDTED KLKGAREENS
GLLQELEELR KQAEKAKAAQ TAEDAMQIME QMTKEKTETL ASLEDTKQTN AKLQNELDTL
KENNLKNVEE LNKSKELLTV ENQKMEEFRK EIETLKQAAA QKSQQLSALQ EENVKLAEEL
GRSRDEVTSH QKLEEERSVL NNQLLEMKKR ESKFIKDADE EKASLQKSIS ITSALLTEKD
AELEKLRNEV TVLRGENASA KSLHSVVQTL ESDKVKLELK VKNLELQLKE NKRQLSSSSG
NTDTQADEDE RAQESQIDFL NSVIVDLQRK NQDLKMKVEM MSEAALNGNG DDLNNYDSDD
QEKQSKKKPR LFCDICDCFD LHDTEDCPTQ AQMSEDPPHS THHGSRGEER PYCEICEMFG
HWATNCNDDE TF*
speed 1.42 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: 0.963757750429703 (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) chr12:122812503G>CN/A show variant in all transcripts   IGV
HGNC symbol CLIP1
Ensembl transcript ID ENST00000540338
Genbank transcript ID NM_001247997
UniProt peptide P30622
alteration type single base exchange
alteration region CDS
DNA changes c.3240C>G
cDNA.3282C>G
g.94677C>G
AA changes D1080E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1080
frameshift no
known variant Reference ID: rs1129167
databasehomozygous (C/C)heterozygousallele carriers
1000G5449481492
ExAC20626-848512141
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2640.848
0.0130.848
(flanking)3.6080.986
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 increased94680wt: 0.9718 / mu: 0.9725 (marginal change - not scored)wt: GACAAAGCCAAAGTA
mu: GAGAAAGCCAAAGTA		 CAAA|gcca
Donor marginally increased94681wt: 0.9895 / mu: 0.9936 (marginal change - not scored)wt: ACAAAGCCAAAGTAC
mu: AGAAAGCCAAAGTAC		 AAAG|ccaa
Donor marginally increased94671wt: 0.9428 / mu: 0.9960 (marginal change - not scored)wt: AAGCAAGCCGACAAA
mu: AAGCAAGCCGAGAAA		 GCAA|gccg
Donor marginally increased94674wt: 0.9877 / mu: 0.9910 (marginal change - not scored)wt: CAAGCCGACAAAGCC
mu: CAAGCCGAGAAAGCC		 AGCC|gaca
Donor gained946760.66mu: AGCCGAGAAAGCCAA CCGA|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1080LQELEELRKQADKAKAAQTAEDAM
mutated  all conserved    1080LQELEELRKQAEKAKAAQTAEDA
Ptroglodytes  all identical  ENSPTRG00000005578  1064LQELEELRKQADKAKAAQTAEDA
Mmulatta  all identical  ENSMMUG00000021928  1069LQELEELRKQADKAKAAQTAEDA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049550  1079MQDMEELKTQADKAKAAQTAEDA
Ggallus  all conserved  ENSGALG00000004467  1064QAEQAKADKRAEEV
Trubripes  all conserved  ENSTRUG00000007660  1063SELQAYKEQAQATETSGKT
Drerio  all conserved  ENSDARG00000078722  1040EELMTFKEKTAVLEKAEEA
Dmelanogaster  not conserved  FBgn0020503  1183KEELKETHLQLDERQKKFEELEEKLKQAQQSEQK
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003780  1036DLKQEAEQIKVCQMAEES
protein features
start (aa)end (aa)featuredetails 
3501353COILEDPotential.lost
13641364MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171434ZN_FINGCCHC-type.might get lost (downstream of altered splice site)
14201423TURNmight get lost (downstream of altered splice site)
14241427STRANDmight get lost (downstream of altered splice site)
14291431HELIXmight get lost (downstream of altered splice site)
14321432CONFLICTC -> R (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4317 / 4317
position (AA) of stopcodon in wt / mu AA sequence 1439 / 1439
position of stopcodon in wt / mu cDNA 4359 / 4359
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 43 / 43
chromosome 12
strand -1
last intron/exon boundary 4134
theoretical NMD boundary in CDS 4041
length of CDS 4317
coding sequence (CDS) position 3240
cDNA position
(for ins/del: last normal base / first normal base)		 3282
gDNA position
(for ins/del: last normal base / first normal base)		 94677
chromosomal position
(for ins/del: last normal base / first normal base)		 122812503
original gDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGTACGTGACGC
altered gDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGTACGTGACGC
original cDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGCTGCTCAAAC
altered cDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGCTGCTCAAAC
wildtype AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLEQKSQ ISEDPENTQT KLEHARIKEL
EQSLLFEKTK ADKLQRELED TRVATVSEKS RIMELEKDLA LRVQEVAELR RRLESNKPAG
DVDMSLSLLQ EISSLQEKLE VTRTDHQREI TSLKEHFGAR EETHQKEIKA LYTATEKLSK
ENESLKSKLE HANKENSDVI ALWKSKLETA IASHQQAMEE LKVSFSKGLG TETAEFAELK
TQIEKMRLDY QHEIENLQNQ QDSERAAHAK EMEALRAKLM KVIKEKENSL EAIRSKLDKA
EDQHLVEMED TLNKLQEAEI KVKELEVLQA KCNEQTKVID NFTSQLKATE EKLLDLDALR
KASSEGKSEM KKLRQQLEAA EKQIKHLEIE KNAESSKASS ITRELQGREL KLTNLQENLS
EVSQVKETLE KELQILKEKF AEASEEAVSV QRSMQETVNK LHQKEEQFNM LSSDLEKLRE
NLADMEAKFR EKDEREEQLI KAKEKLENDI AEIMKMSGDN SSQLTKMNDE LRLKERDVEE
LQLKLTKANE NASFLQKSIE DMTVKAEQSQ QEAAKKHEEE KKELERKLSD LEKKMETSHN
QCQELKARYE RATSETKTKH EEILQNLQKT LLDTEDKLKG AREENSGLLQ ELEELRKQAD
KAKAAQTAED AMQIMEQMTK EKTETLASLE DTKQTNAKLQ NELDTLKENN LKNVEELNKS
KELLTVENQK MEEFRKEIET LKQAAAQKSQ QLSALQEENV KLAEELGRSR DEVTSHQKLE
EERSVLNNQL LEMKKRESKF IKDADEEKAS LQKSISITSA LLTEKDAELE KLRNEVTVLR
GENASAKSLH SVVQTLESDK VKLELKVKNL ELQLKENKRQ LSSSSGNTDT QADEDERAQE
SQIDFLNSVI VDLQRKNQDL KMKVEMMSEA ALNGNGDDLN NYDSDDQEKQ SKKKPRLFCD
ICDCFDLHDT EDCPTQAQMS EDPPHSTHHG SRGEERPYCE ICEMFGHWAT NCNDDETF*
mutated AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLEQKSQ ISEDPENTQT KLEHARIKEL
EQSLLFEKTK ADKLQRELED TRVATVSEKS RIMELEKDLA LRVQEVAELR RRLESNKPAG
DVDMSLSLLQ EISSLQEKLE VTRTDHQREI TSLKEHFGAR EETHQKEIKA LYTATEKLSK
ENESLKSKLE HANKENSDVI ALWKSKLETA IASHQQAMEE LKVSFSKGLG TETAEFAELK
TQIEKMRLDY QHEIENLQNQ QDSERAAHAK EMEALRAKLM KVIKEKENSL EAIRSKLDKA
EDQHLVEMED TLNKLQEAEI KVKELEVLQA KCNEQTKVID NFTSQLKATE EKLLDLDALR
KASSEGKSEM KKLRQQLEAA EKQIKHLEIE KNAESSKASS ITRELQGREL KLTNLQENLS
EVSQVKETLE KELQILKEKF AEASEEAVSV QRSMQETVNK LHQKEEQFNM LSSDLEKLRE
NLADMEAKFR EKDEREEQLI KAKEKLENDI AEIMKMSGDN SSQLTKMNDE LRLKERDVEE
LQLKLTKANE NASFLQKSIE DMTVKAEQSQ QEAAKKHEEE KKELERKLSD LEKKMETSHN
QCQELKARYE RATSETKTKH EEILQNLQKT LLDTEDKLKG AREENSGLLQ ELEELRKQAE
KAKAAQTAED AMQIMEQMTK EKTETLASLE DTKQTNAKLQ NELDTLKENN LKNVEELNKS
KELLTVENQK MEEFRKEIET LKQAAAQKSQ QLSALQEENV KLAEELGRSR DEVTSHQKLE
EERSVLNNQL LEMKKRESKF IKDADEEKAS LQKSISITSA LLTEKDAELE KLRNEVTVLR
GENASAKSLH SVVQTLESDK VKLELKVKNL ELQLKENKRQ LSSSSGNTDT QADEDERAQE
SQIDFLNSVI VDLQRKNQDL KMKVEMMSEA ALNGNGDDLN NYDSDDQEKQ SKKKPRLFCD
ICDCFDLHDT EDCPTQAQMS EDPPHSTHHG SRGEERPYCE ICEMFGHWAT NCNDDETF*
speed 0.45 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: 0.963757750429703 (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) chr12:122812503G>CN/A show variant in all transcripts   IGV
HGNC symbol CLIP1
Ensembl transcript ID ENST00000358808
Genbank transcript ID NM_002956
UniProt peptide P30622
alteration type single base exchange
alteration region CDS
DNA changes c.3207C>G
cDNA.3362C>G
g.94677C>G
AA changes D1069E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1069
frameshift no
known variant Reference ID: rs1129167
databasehomozygous (C/C)heterozygousallele carriers
1000G5449481492
ExAC20626-848512141
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2640.848
0.0130.848
(flanking)3.6080.986
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 increased94680wt: 0.9718 / mu: 0.9725 (marginal change - not scored)wt: GACAAAGCCAAAGTA
mu: GAGAAAGCCAAAGTA		 CAAA|gcca
Donor marginally increased94681wt: 0.9895 / mu: 0.9936 (marginal change - not scored)wt: ACAAAGCCAAAGTAC
mu: AGAAAGCCAAAGTAC		 AAAG|ccaa
Donor marginally increased94671wt: 0.9428 / mu: 0.9960 (marginal change - not scored)wt: AAGCAAGCCGACAAA
mu: AAGCAAGCCGAGAAA		 GCAA|gccg
Donor marginally increased94674wt: 0.9877 / mu: 0.9910 (marginal change - not scored)wt: CAAGCCGACAAAGCC
mu: CAAGCCGAGAAAGCC		 AGCC|gaca
Donor gained946760.66mu: AGCCGAGAAAGCCAA CCGA|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1069LQELEELRKQADKAKAAQTAEDAM
mutated  all conserved    1069LQELEELRKQAEKAKAAQTAEDA
Ptroglodytes  all identical  ENSPTRG00000005578  1064LQELEELRKQADKAKAAQTAEDA
Mmulatta  all identical  ENSMMUG00000021928  1069LQELEELRKQADKAKAAQTAEDA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049550  1079MQDMEELKTQADKAKAAQTAEDA
Ggallus  all conserved  ENSGALG00000004467  1064ETQAEELKKQAEQAKADKRA
Trubripes  all conserved  ENSTRUG00000007660  1063SELQAYKEQAQATETSGKT
Drerio  all conserved  ENSDARG00000078722  1040RKQIEELMTFKEKTA
Dmelanogaster  not conserved  FBgn0020503  1111LQHKEKMASEDAQKIADLKTLVEA
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003780  1036KGQMEDLKQEAEQIKV
protein features
start (aa)end (aa)featuredetails 
3501353COILEDPotential.lost
13641364MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171434ZN_FINGCCHC-type.might get lost (downstream of altered splice site)
14201423TURNmight get lost (downstream of altered splice site)
14241427STRANDmight get lost (downstream of altered splice site)
14291431HELIXmight get lost (downstream of altered splice site)
14321432CONFLICTC -> R (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4284 / 4284
position (AA) of stopcodon in wt / mu AA sequence 1428 / 1428
position of stopcodon in wt / mu cDNA 4439 / 4439
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 156 / 156
chromosome 12
strand -1
last intron/exon boundary 4214
theoretical NMD boundary in CDS 4008
length of CDS 4284
coding sequence (CDS) position 3207
cDNA position
(for ins/del: last normal base / first normal base)		 3362
gDNA position
(for ins/del: last normal base / first normal base)		 94677
chromosomal position
(for ins/del: last normal base / first normal base)		 122812503
original gDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGTACGTGACGC
altered gDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGTACGTGACGC
original cDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGCTGCTCAAAC
altered cDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGCTGCTCAAAC
wildtype AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLETQTK LEHARIKELE QSLLFEKTKA
DKLQRELEDT RVATVSEKSR IMELEKDLAL RVQEVAELRR RLESNKPAGD VDMSLSLLQE
ISSLQEKLEV TRTDHQREIT SLKEHFGARE ETHQKEIKAL YTATEKLSKE NESLKSKLEH
ANKENSDVIA LWKSKLETAI ASHQQAMEEL KVSFSKGLGT ETAEFAELKT QIEKMRLDYQ
HEIENLQNQQ DSERAAHAKE MEALRAKLMK VIKEKENSLE AIRSKLDKAE DQHLVEMEDT
LNKLQEAEIK VKELEVLQAK CNEQTKVIDN FTSQLKATEE KLLDLDALRK ASSEGKSEMK
KLRQQLEAAE KQIKHLEIEK NAESSKASSI TRELQGRELK LTNLQENLSE VSQVKETLEK
ELQILKEKFA EASEEAVSVQ RSMQETVNKL HQKEEQFNML SSDLEKLREN LADMEAKFRE
KDEREEQLIK AKEKLENDIA EIMKMSGDNS SQLTKMNDEL RLKERDVEEL QLKLTKANEN
ASFLQKSIED MTVKAEQSQQ EAAKKHEEEK KELERKLSDL EKKMETSHNQ CQELKARYER
ATSETKTKHE EILQNLQKTL LDTEDKLKGA REENSGLLQE LEELRKQADK AKAAQTAEDA
MQIMEQMTKE KTETLASLED TKQTNAKLQN ELDTLKENNL KNVEELNKSK ELLTVENQKM
EEFRKEIETL KQAAAQKSQQ LSALQEENVK LAEELGRSRD EVTSHQKLEE ERSVLNNQLL
EMKKRESKFI KDADEEKASL QKSISITSAL LTEKDAELEK LRNEVTVLRG ENASAKSLHS
VVQTLESDKV KLELKVKNLE LQLKENKRQL SSSSGNTDTQ ADEDERAQES QIDFLNSVIV
DLQRKNQDLK MKVEMMSEAA LNGNGDDLNN YDSDDQEKQS KKKPRLFCDI CDCFDLHDTE
DCPTQAQMSE DPPHSTHHGS RGEERPYCEI CEMFGHWATN CNDDETF*
mutated AA sequence MSMLKPSGLK APTKILKPGS TALKTPTAVV APVEKTISSE KASSTPSSET QEEFVDDFRV
GERVWVNGNK PGFIQFLGET QFAPGQWAGI VLDEPIGKND GSVAGVRYFQ CEPLKGIFTR
PSKLTRKVQA EDEANGLQTT PASRATSPLC TSTASMVSSS PSTPSNIPQK PSQPAAKEPS
ATPPISNLTK TASESISNLS EAGSIKKGER ELKIGDRVLV GGTKAGVVRF LGETDFAKGE
WCGVELDEPL GKNDGAVAGT RYFQCQPKYG LFAPVHKVTK IGFPSTTPAK AKANAVRRVM
ATTSASLKRS PSASSLSSMS SVASSVSSRP SRTGLLTETS SRYARKISGT TALQEALKEK
QQHIEQLLAE RDLERAEVAK ATSHVGEIEQ ELALARDGHD QHVLELEAKM DQLRTMVEAA
DREKVELLNQ LEEEKRKVED LQFRVEEESI TKGDLETQTK LEHARIKELE QSLLFEKTKA
DKLQRELEDT RVATVSEKSR IMELEKDLAL RVQEVAELRR RLESNKPAGD VDMSLSLLQE
ISSLQEKLEV TRTDHQREIT SLKEHFGARE ETHQKEIKAL YTATEKLSKE NESLKSKLEH
ANKENSDVIA LWKSKLETAI ASHQQAMEEL KVSFSKGLGT ETAEFAELKT QIEKMRLDYQ
HEIENLQNQQ DSERAAHAKE MEALRAKLMK VIKEKENSLE AIRSKLDKAE DQHLVEMEDT
LNKLQEAEIK VKELEVLQAK CNEQTKVIDN FTSQLKATEE KLLDLDALRK ASSEGKSEMK
KLRQQLEAAE KQIKHLEIEK NAESSKASSI TRELQGRELK LTNLQENLSE VSQVKETLEK
ELQILKEKFA EASEEAVSVQ RSMQETVNKL HQKEEQFNML SSDLEKLREN LADMEAKFRE
KDEREEQLIK AKEKLENDIA EIMKMSGDNS SQLTKMNDEL RLKERDVEEL QLKLTKANEN
ASFLQKSIED MTVKAEQSQQ EAAKKHEEEK KELERKLSDL EKKMETSHNQ CQELKARYER
ATSETKTKHE EILQNLQKTL LDTEDKLKGA REENSGLLQE LEELRKQAEK AKAAQTAEDA
MQIMEQMTKE KTETLASLED TKQTNAKLQN ELDTLKENNL KNVEELNKSK ELLTVENQKM
EEFRKEIETL KQAAAQKSQQ LSALQEENVK LAEELGRSRD EVTSHQKLEE ERSVLNNQLL
EMKKRESKFI KDADEEKASL QKSISITSAL LTEKDAELEK LRNEVTVLRG ENASAKSLHS
VVQTLESDKV KLELKVKNLE LQLKENKRQL SSSSGNTDTQ ADEDERAQES QIDFLNSVIV
DLQRKNQDLK MKVEMMSEAA LNGNGDDLNN YDSDDQEKQS KKKPRLFCDI CDCFDLHDTE
DCPTQAQMSE DPPHSTHHGS RGEERPYCEI CEMFGHWATN CNDDETF*
speed 1.43 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: 0.703948904965106 (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) chr12:122812503G>CN/A show variant in all transcripts   IGV
HGNC symbol CLIP1
Ensembl transcript ID ENST00000545889
Genbank transcript ID N/A
UniProt peptide P30622
alteration type single base exchange
alteration region CDS
DNA changes c.1965C>G
cDNA.2115C>G
g.94677C>G
AA changes D655E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 655
frameshift no
known variant Reference ID: rs1129167
databasehomozygous (C/C)heterozygousallele carriers
1000G5449481492
ExAC20626-848512141
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2640.848
0.0130.848
(flanking)3.6080.986
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 increased94680wt: 0.9718 / mu: 0.9725 (marginal change - not scored)wt: GACAAAGCCAAAGTA
mu: GAGAAAGCCAAAGTA		 CAAA|gcca
Donor marginally increased94681wt: 0.9895 / mu: 0.9936 (marginal change - not scored)wt: ACAAAGCCAAAGTAC
mu: AGAAAGCCAAAGTAC		 AAAG|ccaa
Donor marginally increased94671wt: 0.9428 / mu: 0.9960 (marginal change - not scored)wt: AAGCAAGCCGACAAA
mu: AAGCAAGCCGAGAAA		 GCAA|gccg
Donor marginally increased94674wt: 0.9877 / mu: 0.9910 (marginal change - not scored)wt: CAAGCCGACAAAGCC
mu: CAAGCCGAGAAAGCC		 AGCC|gaca
Donor gained946760.66mu: AGCCGAGAAAGCCAA CCGA|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      655LQELEELRKQADKAKAAQTAEDAM
mutated  all conserved    655LQELEELRKQAEKAKAA
Ptroglodytes  all identical  ENSPTRG00000005578  1064LQELEELRKQADKAKAAQTAE
Mmulatta  all identical  ENSMMUG00000021928  1069LQELEELRKQADKAKAAQT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049550  1079DKAKAAQTAEDA
Ggallus  all conserved  ENSGALG00000004467  1064ETQAEELKKQAEQAKADKRAEEV
Trubripes  all identical  ENSTRUG00000007660  1029AKEVEVLQNQVDKLKQELSSSKDKSEELAKSVSELQAYKEQAQATETSGKT
Drerio  all conserved  ENSDARG00000078722  1040RKQIEELMTFKEKTAVLEKAEEA
Dmelanogaster  not conserved  FBgn0020503  1319LVKVEELVKVLEEKLQAATSQL
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003780  1036KGQMEDLKQEAEQIKVCQMAEES
protein features
start (aa)end (aa)featuredetails 
3501353COILEDPotential.lost
682682CONFLICTD -> N (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
766766CONFLICTL -> P (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
833833MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
937937MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
13641364MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171434ZN_FINGCCHC-type.might get lost (downstream of altered splice site)
14201423TURNmight get lost (downstream of altered splice site)
14241427STRANDmight get lost (downstream of altered splice site)
14291431HELIXmight get lost (downstream of altered splice site)
14321432CONFLICTC -> R (in Ref. 3; AAI14214).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3042 / 3042
position (AA) of stopcodon in wt / mu AA sequence 1014 / 1014
position of stopcodon in wt / mu cDNA 3192 / 3192
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 151 / 151
chromosome 12
strand -1
last intron/exon boundary 2967
theoretical NMD boundary in CDS 2766
length of CDS 3042
coding sequence (CDS) position 1965
cDNA position
(for ins/del: last normal base / first normal base)		 2115
gDNA position
(for ins/del: last normal base / first normal base)		 94677
chromosomal position
(for ins/del: last normal base / first normal base)		 122812503
original gDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGTACGTGACGC
altered gDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGTACGTGACGC
original cDNA sequence snippet GAGCTGAGAAAGCAAGCCGACAAAGCCAAAGCTGCTCAAAC
altered cDNA sequence snippet GAGCTGAGAAAGCAAGCCGAGAAAGCCAAAGCTGCTCAAAC
wildtype AA sequence MATTSASLKR SPSASSLSSM SSVASSVSSR PSRTGLLTET SSRYARKISG TTALQEALKE
KQQHIEQLLA ERDLERAEVA KATSHVGEIE QELALARDGH DQHVLELEAK MDQLRTMVEA
ADREKVELLN QLEEEKRKVE DLQFRVEEES ITKGDLETQT KLEHARIKEL EQSLLFEKTK
ADKLQRELED TRVATVSEKS RIMELEKDLA LRVQEVAELR RRLESNKPAG DVDMSLSLLQ
EISSLQEKLE VTRTDHQREI TSLKEHFGAR EETHQKEIKA LYTATEKLSK ENESLKSKLE
HANKENSDVI ALWKSKLETA IASHQQAMEE LKVSFSKGLG TETAEFAELK TQIEKMRLDY
QHEIENLQNQ QDSERAAHAK EMEALRAKLM KVIKEKENSL EAIRSKLDKA EDQHLVEMED
TLNKLQEAEI KKEKFAEASE EAVSVQRSMQ ETVNKLHQKE EQFNMLSSDL EKLRENLADM
EAKFREKDER EEQLIKAKEK LENDIAEIMK MSGDNSSQLT KMNDELRLKE RDVEELQLKL
TKANENASFL QKSIEDMTVK AEQSQQEAAK KHEEEKKELE RKLSDLEKKM ETSHNQCQEL
KARYERATSE TKTKHEEILQ NLQKTLLDTE DKLKGAREEN SGLLQELEEL RKQADKAKAA
QTAEDAMQIM EQMTKEKTET LASLEDTKQT NAKLQNELDT LKENNLKNVE ELNKSKELLT
VENQKMEEFR KEIETLKQAA AQKSQQLSAL QEENVKLAEE LGRSRDEVTS HQKLEEERSV
LNNQLLEMKK RESKFIKDAD EEKASLQKSI SITSALLTEK DAELEKLRNE VTVLRGENAS
AKSLHSVVQT LESDKVKLEL KVKNLELQLK ENKRQLSSSS GNTDTQADED ERAQESQIDF
LNSVIVDLQR KNQDLKMKVE MMSEAALNGN GDDLNNYDSD DQEKQSKKKP RLFCDICDCF
DLHDTEDCPT QAQMSEDPPH STHHGSRGEE RPYCEICEMF GHWATNCNDD ETF*
mutated AA sequence MATTSASLKR SPSASSLSSM SSVASSVSSR PSRTGLLTET SSRYARKISG TTALQEALKE
KQQHIEQLLA ERDLERAEVA KATSHVGEIE QELALARDGH DQHVLELEAK MDQLRTMVEA
ADREKVELLN QLEEEKRKVE DLQFRVEEES ITKGDLETQT KLEHARIKEL EQSLLFEKTK
ADKLQRELED TRVATVSEKS RIMELEKDLA LRVQEVAELR RRLESNKPAG DVDMSLSLLQ
EISSLQEKLE VTRTDHQREI TSLKEHFGAR EETHQKEIKA LYTATEKLSK ENESLKSKLE
HANKENSDVI ALWKSKLETA IASHQQAMEE LKVSFSKGLG TETAEFAELK TQIEKMRLDY
QHEIENLQNQ QDSERAAHAK EMEALRAKLM KVIKEKENSL EAIRSKLDKA EDQHLVEMED
TLNKLQEAEI KKEKFAEASE EAVSVQRSMQ ETVNKLHQKE EQFNMLSSDL EKLRENLADM
EAKFREKDER EEQLIKAKEK LENDIAEIMK MSGDNSSQLT KMNDELRLKE RDVEELQLKL
TKANENASFL QKSIEDMTVK AEQSQQEAAK KHEEEKKELE RKLSDLEKKM ETSHNQCQEL
KARYERATSE TKTKHEEILQ NLQKTLLDTE DKLKGAREEN SGLLQELEEL RKQAEKAKAA
QTAEDAMQIM EQMTKEKTET LASLEDTKQT NAKLQNELDT LKENNLKNVE ELNKSKELLT
VENQKMEEFR KEIETLKQAA AQKSQQLSAL QEENVKLAEE LGRSRDEVTS HQKLEEERSV
LNNQLLEMKK RESKFIKDAD EEKASLQKSI SITSALLTEK DAELEKLRNE VTVLRGENAS
AKSLHSVVQT LESDKVKLEL KVKNLELQLK ENKRQLSSSS GNTDTQADED ERAQESQIDF
LNSVIVDLQR KNQDLKMKVE MMSEAALNGN GDDLNNYDSD DQEKQSKKKP RLFCDICDCF
DLHDTEDCPT QAQMSEDPPH STHHGSRGEE RPYCEICEMF GHWATNCNDD ETF*
speed 0.45 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