Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999943403 (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) chr14:77843384G>TN/A show variant in all transcripts   IGV
HGNC symbol TMED8
Ensembl transcript ID ENST00000216468
Genbank transcript ID NM_213601
UniProt peptide Q6PL24
alteration type single base exchange
alteration region CDS
DNA changes c.13C>A
cDNA.69C>A
g.69C>A
AA changes Q5K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 5
frameshift no
known variant Reference ID: rs3742737
databasehomozygous (T/T)heterozygousallele carriers
1000G1828811063
ExAC70312382
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6630.01
1.2310.013
(flanking)0.6850.009
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased70wt: 0.2240 / mu: 0.2341 (marginal change - not scored)wt: CCTGCAGGCGGCTGA
mu: CCTGAAGGCGGCTGA		 TGCA|ggcg
Donor marginally increased74wt: 0.8805 / mu: 0.9016 (marginal change - not scored)wt: CAGGCGGCTGAGGGG
mu: AAGGCGGCTGAGGGG		 GGCG|gctg
Donor gained650.98mu: TCTGACCTGAAGGCG TGAC|ctga
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      5 MSDLQAAEGPGSWSPTA
mutated  all conserved    5 MSDLKAAEGPGSWSPTARPGSA
Ptroglodytes  all identical  ENSPTRG00000006578  5 MSDLQAAEGPGSWSPTARPGSA
Mmulatta  all identical  ENSMMUG00000001098  5 MSDLQAAEGPGSWSPTARRGSA
Fcatus  no alignment  ENSFCAG00000011732  n/a
Mmusculus  all identical  ENSMUSG00000034111  5 MSDRQAAEGPAFWSPAARRGSA
Ggallus  not conserved  ENSGALG00000020410  5 MSDVLAAAAGSRFEPPAA-GAL
Trubripes  no alignment  ENSTRUG00000018236  n/a
Drerio  no alignment  ENSDARG00000052390  n/a
Dmelanogaster  no alignment  FBgn0031061  n/a
Celegans  no alignment  Y41E3.7  n/a
Xtropicalis  no alignment  ENSXETG00000011082  n/a
protein features
start (aa)end (aa)featuredetails 
2121MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159323DOMAINGOLD.might get lost (downstream of altered splice site)
169169MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
242254COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 1034 / 1034
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 57 / 57
chromosome 14
strand -1
last intron/exon boundary 817
theoretical NMD boundary in CDS 710
length of CDS 978
coding sequence (CDS) position 13
cDNA position
(for ins/del: last normal base / first normal base)		 69
gDNA position
(for ins/del: last normal base / first normal base)		 69
chromosomal position
(for ins/del: last normal base / first normal base)		 77843384
original gDNA sequence snippet GGCTGCAGATGTCTGACCTGCAGGCGGCTGAGGGGCCGGGC
altered gDNA sequence snippet GGCTGCAGATGTCTGACCTGAAGGCGGCTGAGGGGCCGGGC
original cDNA sequence snippet GGCTGCAGATGTCTGACCTGCAGGCGGCTGAGGGGCCGGGC
altered cDNA sequence snippet GGCTGCAGATGTCTGACCTGAAGGCGGCTGAGGGGCCGGGC
wildtype AA sequence MSDLQAAEGP GSWSPTARPG SAGGVGDCQG VEGSQAAASE NEDLENKDTS LLASATDPEP
CSSPHRPQMV SPVSKDATED LRKATGPLEA QALVKQDLLP ADQAQVLNEM AKYQVPQRSG
DIVMIQSEHT GAIDVLSADL ESADLLGDHR KVSPPLMAPP CIWTFAKVKE FKSKLGKEKN
SRLVVKRGEV VTIRVPTHPE GKRVCWEFAT DDYDIGFGVY FDWTPVTSTD ITVQVSDSSD
DEDEEEEEEE EIEEPVPAGD VERGSRSSLR GRYGEVMPVY RRDSHRDVQA GSHDYPGEGI
YLLKFDNSYS LLRNKTLYFH IYYTS*
mutated AA sequence MSDLKAAEGP GSWSPTARPG SAGGVGDCQG VEGSQAAASE NEDLENKDTS LLASATDPEP
CSSPHRPQMV SPVSKDATED LRKATGPLEA QALVKQDLLP ADQAQVLNEM AKYQVPQRSG
DIVMIQSEHT GAIDVLSADL ESADLLGDHR KVSPPLMAPP CIWTFAKVKE FKSKLGKEKN
SRLVVKRGEV VTIRVPTHPE GKRVCWEFAT DDYDIGFGVY FDWTPVTSTD ITVQVSDSSD
DEDEEEEEEE EIEEPVPAGD VERGSRSSLR GRYGEVMPVY RRDSHRDVQA GSHDYPGEGI
YLLKFDNSYS LLRNKTLYFH IYYTS*
speed 0.33 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