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 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 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 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 1.39 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