Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00558508272465931 (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) chr1:6705874G>CN/A show variant in all transcripts   IGV
HGNC symbol DNAJC11
Ensembl transcript ID ENST00000294401
Genbank transcript ID N/A
UniProt peptide Q9NVH1
alteration type single base exchange
alteration region CDS
DNA changes c.869C>G
cDNA.993C>G
g.56111C>G
AA changes T290S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs200454
databasehomozygous (C/C)heterozygousallele carriers
1000G107593700
ExAC37791901222791
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7611
1.8321
(flanking)2.8631
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased56105wt: 0.21 / mu: 0.94wt: AGACACTAAAACCAG
mu: AGACACTAAAAGCAG		 ACAC|taaa
Donor gained561100.72mu: CTAAAAGCAGCCACT AAAA|gcag
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290AMNTSIVRDTKTSHFTVALQLGIP
mutated  all conserved    290AMNTSIVRDTKSSHFTVALQLG
Ptroglodytes  all identical  ENSPTRG00000000094  290AMNTSIVRDTKTSHFTVALQLG
Mmulatta  all identical  ENSMMUG00000004686  266AMNTSIVRDTKTSHFTVALQLGI
Fcatus  all identical  ENSFCAG00000000663  266AMNTSIVRDTKTSHFTVALQLGI
Mmusculus  all identical  ENSMUSG00000039768  290AMNTSIVRDTKTCHFTVALQLG
Ggallus  all identical  ENSGALG00000000627  292AMNTSIVRDTKTSHFTVALQLG
Trubripes  all conserved  ENSTRUG00000013526  290SMNTSVVRDTKSSHFTFAVQLG
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0033918  281SMSTQIDHSKETYSLSSSLVIGT
Celegans  not conserved  F11G11.7  292ALTTTMVH-TENNHAKAVGSLTLSP
Xtropicalis  not conserved  ENSXETG00000011143  290AMNTSIVRDTKNSHFTLAFQLG
protein features
start (aa)end (aa)featuredetails 
309309CONFLICTS -> I (in Ref. 1; BAA91780).might get lost (downstream of altered splice site)
417457COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1524 / 1524
position (AA) of stopcodon in wt / mu AA sequence 508 / 508
position of stopcodon in wt / mu cDNA 1648 / 1648
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 125 / 125
chromosome 1
strand -1
last intron/exon boundary 1623
theoretical NMD boundary in CDS 1448
length of CDS 1524
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 993
gDNA position
(for ins/del: last normal base / first normal base)		 56111
chromosomal position
(for ins/del: last normal base / first normal base)		 6705874
original gDNA sequence snippet CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC
altered gDNA sequence snippet CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC
original cDNA sequence snippet CATCGTCCGAGACACTAAAACCAGCCACTTCACTGTGGCCC
altered cDNA sequence snippet CATCGTCCGAGACACTAAAAGCAGCCACTTCACTGTGGCCC
wildtype AA sequence MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKT SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKELEK QRESAATDVL QKKQEAESAV RLMQESVRRI IEAEESRMGL IIVNAWYGKF
VNDKSRKSEK VKVIDVTVPL QCLVKDSKLI LTEASKAGLP GFYDPCVGEE KNLKVLYQFR
GVLHQVMVLD SEALRIPKQS HRIDTDG*
mutated AA sequence MATALSEEEL DNEDYYSLLN VRREASSEEL KAAYRRLCML YHPDKHRDPE LKSQAERLFN
LVHQAYEVLS DPQTRAIYDI YGKRGLEMEG WEVVERRRTP AEIREEFERL QREREERRLQ
QRTNPKGTIS VGVDATDLFD RYDEEYEDVS GSSFPQIEIN KMHISQSIEA PLTATDTAIL
SGSLSTQNGN GGGSINFALR RVTSAKGWGE LEFGAGDLQG PLFGLKLFRN LTPRCFVTTN
CALQFSSRGI RPGLTTVLAR NLDKNTVGYL QWRWGIQSAM NTSIVRDTKS SHFTVALQLG
IPHSFALISY QHKFQDDDQT RVKGSLKAGF FGTVVEYGAE RKISRHSVLG AAVSVGVPQG
VSLKVKELEK QRESAATDVL QKKQEAESAV RLMQESVRRI IEAEESRMGL IIVNAWYGKF
VNDKSRKSEK VKVIDVTVPL QCLVKDSKLI LTEASKAGLP GFYDPCVGEE KNLKVLYQFR
GVLHQVMVLD SEALRIPKQS HRIDTDG*
speed 1.23 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