Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999891876087 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:10687746G>TN/A show variant in all transcripts   IGV
HGNC symbol C6orf52
Ensembl transcript ID ENST00000379586
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.7285C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7749306
databasehomozygous (T/T)heterozygousallele carriers
1000G412391803
ExAC55612901846
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.001
0.3870.001
(flanking)-0.3450
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 increased7288wt: 0.9826 / mu: 0.9839 (marginal change - not scored)wt: AGCTCAACAAAATAA
mu: AGATCAACAAAATAA		 CTCA|acaa
distance from splice site 457
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 199 / 199
chromosome 6
strand -1
last intron/exon boundary 254
theoretical NMD boundary in CDS 5
length of CDS 198
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)		 7285
chromosomal position
(for ins/del: last normal base / first normal base)		 10687746
original gDNA sequence snippet TTCTGCAGATTTTGGCATAGCTCAACAAAATAACTATTACT
altered gDNA sequence snippet TTCTGCAGATTTTGGCATAGATCAACAAAATAACTATTACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPKETTPLAE NQDEDPLEDP HLHLNIEESN QEFMVKSEEL YDSLMNCHWQ PLDTVHSEIP
DETPK*
mutated AA sequence N/A
speed 0.88 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