Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999971671 (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) chr1:65867519G>AN/A show variant in all transcripts   IGV
HGNC symbol DNAJC6
Ensembl transcript ID ENST00000395325
Genbank transcript ID NM_001256864
UniProt peptide O75061
alteration type single base exchange
alteration region CDS
DNA changes c.2012G>A
cDNA.2169G>A
g.153618G>A
AA changes S671N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 671
frameshift no
known variant Reference ID: rs4915691
databasehomozygous (A/A)heterozygousallele carriers
1000G4389281366
ExAC38221331517137
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1410
-1.2070
(flanking)1.520.904
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased153616wt: 0.66 / mu: 0.86wt: CATCAAAGCAAACCC
mu: CATCAAAACAAACCC		 TCAA|agca
Donor marginally increased153611wt: 0.3064 / mu: 0.3299 (marginal change - not scored)wt: CCACCCATCAAAGCA
mu: CCACCCATCAAAACA		 ACCC|atca
Donor gained1536180.31mu: TCAAAACAAACCCCA AAAA|caaa
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      671TGSSHGTPTHQSKPQTLDPFADLG
mutated  all conserved    671GSSHGTPTHQNKPQTLDPFADL
Ptroglodytes  all conserved  ENSPTRG00000000829  728GTPTHQNKPQTLDPFADL
Mmulatta  all conserved  ENSMMUG00000017259  728GTPTHQNKPQTLDPFADL
Fcatus  not conserved  ENSFCAG00000008367  728XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000028528  726HGTPTHQSKPQTLDPFADL
Ggallus  not conserved  ENSGALG00000011041  675SLHSTPTHQPKPQTLDPFADL
Trubripes  not conserved  ENSTRUG00000018550  695SVKPNTLDPFADI
Drerio  all conserved  ENSDARG00000079891  634TSSAHGTPTHQTKPNTLDPFADL
Dmelanogaster  not conserved  FBgn0037218  963QPTQFSSPTHKPSPSSQP-----
Celegans  not conserved  W07A8.3  528APSTHFNNSSSGANLVDFDLGAPIKPTSSA
Xtropicalis  not conserved  ENSXETG00000020390  551TASPHGTPLHQPKPQSLDPFADI
protein features
start (aa)end (aa)featuredetails 
466760COMPBIASPro-rich.lost
696696MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
709709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
849913DOMAINJ.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2742 / 2742
position (AA) of stopcodon in wt / mu AA sequence 914 / 914
position of stopcodon in wt / mu cDNA 2899 / 2899
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 158 / 158
chromosome 1
strand 1
last intron/exon boundary 2798
theoretical NMD boundary in CDS 2590
length of CDS 2742
coding sequence (CDS) position 2012
cDNA position
(for ins/del: last normal base / first normal base)		 2169
gDNA position
(for ins/del: last normal base / first normal base)		 153618
chromosomal position
(for ins/del: last normal base / first normal base)		 65867519
original gDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered gDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
original cDNA sequence snippet TGGTACTCCCACCCATCAAAGCAAACCCCAGACTCTGGATC
altered cDNA sequence snippet TGGTACTCCCACCCATCAAAACAAACCCCAGACTCTGGATC
wildtype AA sequence MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS RVIQSVTSYT
KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS RHLDHYTVYN LSPKSYRTAK
FHSRVSECSW PIRQAPSLHN LFAVCRNMYN WLLQNPKNVC VVHCLDGRAA SSILVGAMFI
FCNLYSTPGP AIRLLYAKRP GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP
IPFFNKQRNG CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP EKYPQLFQVT
LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD TLALGGQAPI DIPPDNPRHY
GQSGFFASLC WQDQKSEKSF CEEDHAALVN QESEQSDDEL LTLSSPHGNA NGDKPHGVKK
PSKKQQEPAA PPPPEDVDLL GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG
QSGVEDVFHP SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM GSKSAATSPT
GSSHGTPTHQ SKPQTLDPFA DLGTLGSSSF ASKPTTPTGL GGGFPPLSSP QKASPQPMGG
GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP NYNVSFSAMP GGQNERGKGS SNLEGKQKAA
DFEDLLSGQG FNAHKDKKGP RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM
HTVLWAGETK WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
WSEFENQGQK PLY*
mutated AA sequence MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS RVIQSVTSYT
KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS RHLDHYTVYN LSPKSYRTAK
FHSRVSECSW PIRQAPSLHN LFAVCRNMYN WLLQNPKNVC VVHCLDGRAA SSILVGAMFI
FCNLYSTPGP AIRLLYAKRP GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP
IPFFNKQRNG CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP EKYPQLFQVT
LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD TLALGGQAPI DIPPDNPRHY
GQSGFFASLC WQDQKSEKSF CEEDHAALVN QESEQSDDEL LTLSSPHGNA NGDKPHGVKK
PSKKQQEPAA PPPPEDVDLL GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG
QSGVEDVFHP SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM GSKSAATSPT
GSSHGTPTHQ NKPQTLDPFA DLGTLGSSSF ASKPTTPTGL GGGFPPLSSP QKASPQPMGG
GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP NYNVSFSAMP GGQNERGKGS SNLEGKQKAA
DFEDLLSGQG FNAHKDKKGP RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM
HTVLWAGETK WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
WSEFENQGQK PLY*
speed 1.02 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