Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.81254622633638e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr10:50013402T>CN/A show variant in all transcripts   IGV
HGNC symbol WDFY4
Ensembl transcript ID ENST00000413659
Genbank transcript ID N/A
UniProt peptide Q6ZS81
alteration type single base exchange
alteration region intron
DNA changes g.120482T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2170132
databasehomozygous (C/C)heterozygousallele carriers
1000G9519871938
ExAC219749847181
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.997
0.2550.997
(flanking)2.0291
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased120477wt: 0.9264 / mu: 0.9507 (marginal change - not scored)wt: GCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGCA
mu: GCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGCA		 ccaa|GATC
Acc increased120476wt: 0.38 / mu: 0.53wt: AGCCGAGCCTCATCCCCTCCAAGATCTCCACCATCATTGGC
mu: AGCCGAGCCTCATCCCCTCCAAGATCCCCACCATCATTGGC		 tcca|AGAT
distance from splice site 2502
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
13371337CONFLICTA -> G (in Ref. 4; BAB84911).might get lost (downstream of altered splice site)
16271647TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20482068TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
25272821DOMAINBEACH.might get lost (downstream of altered splice site)
25952595CONFLICTD -> G (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
26832683CONFLICTE -> K (in Ref. 3; AAH47574).might get lost (downstream of altered splice site)
29302970REPEATWD 1.might get lost (downstream of altered splice site)
29803019REPEATWD 2.might get lost (downstream of altered splice site)
30223061REPEATWD 3.might get lost (downstream of altered splice site)
30713109REPEATWD 4.might get lost (downstream of altered splice site)
31183118CONFLICTP -> L (in Ref. 3; AAH47574 and 5; BAB13433).might get lost (downstream of altered splice site)
31513184REPEATWD 5.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 28 / 28
chromosome 10
strand 1
last intron/exon boundary 7807
theoretical NMD boundary in CDS 7729
length of CDS 3129
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 120482
chromosomal position
(for ins/del: last normal base / first normal base)		 50013402
original gDNA sequence snippet GCCTCATCCCCTCCAAGATCTCCACCATCATTGGCATCCTG
altered gDNA sequence snippet GCCTCATCCCCTCCAAGATCCCCACCATCATTGGCATCCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEAEDLSKAE DRNEDPGSKN EGQLAAVQPD VPHGGQSSSP TALWDMLERK FLEYQQLTHK
SPIERQKSLL SLLPLFLKAW EHSVGIICFP SLQRLAEDVS DQLAQQLQKA LVGKPAEQAR
LAAGQLLWWK GDVDQDGYLL LKSVYVLTGT DSETLGRVAE SGLPALLLQC LYLFFVFPLD
KDELLESDLQ VQKMFVQMLL NICSDSQGLE GLLSGSELQS LLIATTCLRE HSCCFWKEPT
FCVLRAISKA QNLSIIQYLQ ATDCVRLSLQ NLSRLTDTLP APEVSEAVSL ILGFVKDSYP
VSSALFLEFE NSEGYPLLLK VLLRYDGLTQ SEVDPHLEEL LGLVVWLTTC GRSELKVFDS
ITYPQLEGFK FHHEASGVTV KNLQAFQVLQ NVFHKASDSV LCIQVLSVIR TMWAWNARNF
FLLEWTLQPI SQFVEIMPLK PAPVQEHFFQ LLEALVFELH YVPHEILRKV QHLIKESPGP
SCTLMALQSI LSIAGGDPLF TDIFRDSGLL GLLLAQLRKQ AKIMRKSGNK VSTPGVQDPE
RELTCVMLRI VVTLLKGSVR NAVVLKDHGM VPFIKIFLDD ECYREASLSI LEQLSAINAE
EYMSIIVGAL CSSTQGELQL KLDLLKSLLR ILVTPKGRAA FRVSSGFNGL LSLLSDLEGS
LQEPPLQAWG AVSPRQTLEL VLYTLCAVSA ALHWDPVNGY FFRRNGLFEK LAEDLCLLGC
FGALEEEGNL LRSWVDTKAR PFADLLGTAF SSSGSLPPRI QSCLQILGFL DSMASGTLHL
RGDLKESLRT KQGPVVDVQK GETGSDPQRN FKQWPDLEER MDEGDAAIMH PGVVCIMVRL
LPRLYHEDHP QLSEEIQCSL ASHIQSLVKS EKNRQVMCEA GLLGTLMASC HRALVTSGSP
LHSRLIRIFE KLASQAIEPD VLRQFLGLGI PSSLSATTKI LDSSHTHRGN PGCSGSQTAQ
GLAEGPWPAA PDAGLHPGVT QAPQPLGESQ DSTTALQTAL SLISMTSPHI WKPNIWKDNL
AQKPVAGDAA QCNIFPPASS VL*
mutated AA sequence N/A
speed 1.20 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