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 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      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 1.32 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