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 ENST00000395153
Genbank transcript ID NM_001079520
UniProt peptide Q9NYF0
alteration type single base exchange
alteration region CDS
DNA changes c.1978G>A
cDNA.2125G>A
g.12746G>A
AA changes G660S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 660
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 1344
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      660SYEEALRRARRGRRENVGLYPAPV
mutated  not conserved    660SYEEALRRARRSRRENVGLYPAP
Ptroglodytes  all identical  ENSPTRG00000006397  697SYEEALRRARRGRRENVGLYPAP
Mmulatta  all identical  ENSMMUG00000001090  698SYEEALRRARRGRRENVGLYPAP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000044548  676SYEEALRRARRARREHGAAYRVA
Ggallus  not conserved  ENSGALG00000012023  684SYEEALRRARRNRRDGVGVY-AQ
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000039675  684PYEEAYRRAHRRQKREMLSHMYLP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000011962  686SYEEALRRARRRAQREMMGVY-AQ
protein features
start (aa)end (aa)featuredetails 
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 2400 / 2400
position (AA) of stopcodon in wt / mu AA sequence 800 / 800
position of stopcodon in wt / mu cDNA 2547 / 2547
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 148 / 148
chromosome 14
strand 1
last intron/exon boundary 782
theoretical NMD boundary in CDS 584
length of CDS 2400
coding sequence (CDS) position 1978
cDNA position
(for ins/del: last normal base / first normal base)		 2125
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 MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADVNPKYQCD LVSKNGNDVY RYPSPLHAVA
VQSPMFLLCL TGNPLREEDR LGNHASDICG GSELDAVKTD SSLPSPSSLW SASHPSSSKK
MDGYILSLVQ KKTHPVRTNK PRTSVNADPT KGLLRNGSVC VRAPGGVSQG NSVNLKNSKQ
ACLPSGGIPS LNNGTFSPPK QWSKESKAEQ AESKRVPLPE GCPSGAASDL QSKHLPKTAK
PASQEHARCS AIGTGESPKE SAQLSGASPK ESPSRGPAPP QENKVVQPLK KMSQKNSLQG
VPPATPPLLS TAFPVEERPA LDFKSEGSSQ SLEEAHLVKA QFIPGQQPSV RLHRGHRNMG
VVKNSSLKHR GPALQGLENG LPTVREKTRA GSKKCRFPDD LDTNKKLKKA SSKGRKSGGG
PEAGVPGRPA GGGHRAGSRA HGHGREAVVA KPKHKRTDYR RWKSSAEISY EEALRRARRG
RRENVGLYPA PVPLPYASPY AYVASDSEYS AECESLFHST VVDTSEDEQS NYTTNCFGDS
ESSVSEGEFV GESTTTSDSE ESGGLIWSQF VQTLPIQTVT APDLHNHPAK TFVKIKASHN
LKKKILRFRS GSLKLMTTV*
mutated AA sequence MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADVNPKYQCD LVSKNGNDVY RYPSPLHAVA
VQSPMFLLCL TGNPLREEDR LGNHASDICG GSELDAVKTD SSLPSPSSLW SASHPSSSKK
MDGYILSLVQ KKTHPVRTNK PRTSVNADPT KGLLRNGSVC VRAPGGVSQG NSVNLKNSKQ
ACLPSGGIPS LNNGTFSPPK QWSKESKAEQ AESKRVPLPE GCPSGAASDL QSKHLPKTAK
PASQEHARCS AIGTGESPKE SAQLSGASPK ESPSRGPAPP QENKVVQPLK KMSQKNSLQG
VPPATPPLLS TAFPVEERPA LDFKSEGSSQ SLEEAHLVKA QFIPGQQPSV RLHRGHRNMG
VVKNSSLKHR GPALQGLENG LPTVREKTRA GSKKCRFPDD LDTNKKLKKA SSKGRKSGGG
PEAGVPGRPA GGGHRAGSRA HGHGREAVVA KPKHKRTDYR RWKSSAEISY EEALRRARRS
RRENVGLYPA PVPLPYASPY AYVASDSEYS AECESLFHST VVDTSEDEQS NYTTNCFGDS
ESSVSEGEFV GESTTTSDSE ESGGLIWSQF VQTLPIQTVT APDLHNHPAK TFVKIKASHN
LKKKILRFRS GSLKLMTTV*
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