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MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000373640
MT speed 1.31 s - this script 7.032256 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
C2orf72polymorphism_automatic4.9960036108132e-15simple_aaeA64Gsingle base exchangers190787545show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999995 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:231902471C>GN/A show variant in all transcripts   IGV
HGNC symbol C2orf72
Ensembl transcript ID ENST00000373640
Genbank transcript ID NM_001144994
UniProt peptide A6NCS6
alteration type single base exchange
alteration region CDS
DNA changes c.191C>G
cDNA.267C>G
g.267C>G
AA changes A64G Score: 60 explain score(s)
position(s) of altered AA
if AA alteration in CDS
64
frameshift no
known variant Reference ID: rs190787545
databasehomozygous (G/G)heterozygousallele carriers
1000G28910481337
ExAC011
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8630.009
0.0670.013
(flanking)0.7670.017
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 267
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      64ARAVFPPEPGAAKPGGAAAEGAGP
mutated  not conserved    64PGAGKPGGAAAEGAG
Ptroglodytes  not conserved  ENSPTRG00000028988  49ARAVFPPEPGAGKPGGVAAEGAG
Mmulatta  not conserved  ENSMMUG00000031146  51LRAVFGRQAGGPVQAAAYCPGL-
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000026227  64SAPGKPGCAEAESAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033960  54LQTVFPGEKKEGVGNPNSKDPHDT
protein features
start (aa)end (aa)featuredetails 
63208COMPBIASAla-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 964 / 964
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 77 / 77
chromosome 2
strand 1
last intron/exon boundary 825
theoretical NMD boundary in CDS 698
length of CDS 888
coding sequence (CDS) position 191
cDNA position
(for ins/del: last normal base / first normal base)
267
gDNA position
(for ins/del: last normal base / first normal base)
267
chromosomal position
(for ins/del: last normal base / first normal base)
231902471
original gDNA sequence snippet CCCGCCGGAGCCAGGCGCGGCCAAGCCGGGCGGCGCGGCGG
altered gDNA sequence snippet CCCGCCGGAGCCAGGCGCGGGCAAGCCGGGCGGCGCGGCGG
original cDNA sequence snippet CCCGCCGGAGCCAGGCGCGGCCAAGCCGGGCGGCGCGGCGG
altered cDNA sequence snippet CCCGCCGGAGCCAGGCGCGGGCAAGCCGGGCGGCGCGGCGG
wildtype AA sequence MERELEALAA RLARPAEPPF QALVEAAGGR GQVLLVGELW EREQSRALLR DFARAVFPPE
PGAAKPGGAA AEGAGPGAAR GAQRAARAAG AAGAAAAAAR AIRSPLVFVL CRASSLAARE
PRRRLREMLR DVRGRRRAGA ALVGVLVAEA GPEDAVAPGL RLLEALLRAV FGRQAGGPVQ
AAAYCPGLPA SCLAVQAAAC RALQAAGAGQ PVEGAWERPG LPGLLACFSW GPWSRRKNQD
VAACRSSAQE DFQEPEEELP LTAIFPNGDC DDLGRGSKAC DGVVHTPAEP TGDSR*
mutated AA sequence MERELEALAA RLARPAEPPF QALVEAAGGR GQVLLVGELW EREQSRALLR DFARAVFPPE
PGAGKPGGAA AEGAGPGAAR GAQRAARAAG AAGAAAAAAR AIRSPLVFVL CRASSLAARE
PRRRLREMLR DVRGRRRAGA ALVGVLVAEA GPEDAVAPGL RLLEALLRAV FGRQAGGPVQ
AAAYCPGLPA SCLAVQAAAC RALQAAGAGQ PVEGAWERPG LPGLLACFSW GPWSRRKNQD
VAACRSSAQE DFQEPEEELP LTAIFPNGDC DDLGRGSKAC DGVVHTPAEP TGDSR*
speed 1.31 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
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Problems