Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959398 (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) chr14:59113430G>AN/A show variant in all transcripts   IGV
HGNC symbol DACT1
Ensembl transcript ID ENST00000541264
Genbank transcript ID N/A
UniProt peptide Q9NYF0
alteration type single base exchange
alteration region CDS
DNA changes c.1246G>A
cDNA.2059G>A
g.12746G>A
AA changes G416S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 416
frameshift no
known variant Reference ID: rs698025
databasehomozygous (A/A)heterozygousallele carriers
1000G2149251139
ExAC34701991323383
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1540.102
0.4980.004
(flanking)-0.1960
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased12751wt: 0.50 / mu: 0.56wt: GGTCGCCGGGAGAAT
mu: AGTCGCCGGGAGAAT		 TCGC|cggg
Donor gained127410.88mu: GGCCCGGCGCAGTCG CCCG|gcgc
distance from splice site 552
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      416SYEEALRRARRGRRENVGLYPAPV
mutated  not conserved    416SYEEALRRARRSRREN
Ptroglodytes  all identical  ENSPTRG00000006397  697SYEEALRRARRGRREN
Mmulatta  all identical  ENSMMUG00000001090  698SYEEALRRARRGRRE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000044548  675SYEEALRRARRARRE
Ggallus  not conserved  ENSGALG00000012023  684NRRDGVGVY-AQ
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000039675  685EAYRRAHRRQKREMLSHMYLP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000011962  686SYEEALRRARRRAQREMMGVY-AQ
protein features
start (aa)end (aa)featuredetails 
610623MOTIFBipartite nuclear localization signal (Probable).might get lost (downstream of altered splice site)
622623MUTAGENKK->AA: Partial nuclear accumulation upon LMB treatment.might get lost (downstream of altered splice site)
826836MOTIFPDZ-binding (By similarity).might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
827827MUTAGENS->A: Abolishes interaction with YWHAB; when associated with A-237.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 2481 / 2481
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 814 / 814
chromosome 14
strand 1
last intron/exon boundary 716
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1668
coding sequence (CDS) position 1246
cDNA position
(for ins/del: last normal base / first normal base)		 2059
gDNA position
(for ins/del: last normal base / first normal base)		 12746
chromosomal position
(for ins/del: last normal base / first normal base)		 59113430
original gDNA sequence snippet CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG
altered gDNA sequence snippet CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG
original cDNA sequence snippet CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG
altered cDNA sequence snippet CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG
wildtype AA sequence MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRGRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*
mutated AA sequence MFLLCLTGNP LREEDRLGNH ASDICGGSEL DAVKTDSSLP SPSSLWSASH PSSSKKMDGY
ILSLVQKKTH PVRTNKPRTS VNADPTKGLL RNGSVCVRAP GGVSQGNSVN LKNSKQACLP
SGGIPSLNNG TFSPPKQWSK ESKAEQAESK RVPLPEGCPS GAASDLQSKH LPKTAKPASQ
EHARCSAIGT GESPKESAQL SGASPKESPS RGPAPPQENK VVQPLKKMSQ KNSLQGVPPA
TPPLLSTAFP VEERPALDFK SEGSSQSLEE AHLVKAQFIP GQQPSVRLHR GHRNMGVVKN
SSLKHRGPAL QGLENGLPTV REKTRAGSKK CRFPDDLDTN KKLKKASSKG RKSGGGPEAG
VPGRPAGGGH RAGSRAHGHG REAVVAKPKH KRTDYRRWKS SAEISYEEAL RRARRSRREN
VGLYPAPVPL PYASPYAYVA SDSEYSAECE SLFHSTVVDT SEDEQSNYTT NCFGDSESSV
SEGEFVGEST TTSDSEESGG LIWSQFVQTL PIQTVTAPDL HNHPAKTFVK IKASHNLKKK
ILRFRSGSLK LMTTV*
speed 0.53 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