Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 4.12139715393132e-32 (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) chr6:42906384G>TN/A show variant in all transcripts   IGV
HGNC symbol CNPY3
Ensembl transcript ID ENST00000394142
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.895G>T
g.9447G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9471969
databasehomozygous (T/T)heterozygousallele carriers
1000G144783927
ExAC30881978922877
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.914
3.9020.961
(flanking)2.2340.937
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 increased9451wt: 0.9973 / mu: 0.9984 (marginal change - not scored)wt: AGCAGGGCCAAGGCA
mu: ATCAGGGCCAAGGCA		 CAGG|gcca
Donor marginally increased9438wt: 0.9954 / mu: 0.9955 (marginal change - not scored)wt: CAAGAAGAAGAGCAG
mu: CAAGAAGAAGAGCAT		 AGAA|gaag
distance from splice site 79
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 328 / 328
chromosome 6
strand 1
last intron/exon boundary 817
theoretical NMD boundary in CDS 439
length of CDS 165
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 895
gDNA position
(for ins/del: last normal base / first normal base)		 9447
chromosomal position
(for ins/del: last normal base / first normal base)		 42906384
original gDNA sequence snippet GAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCG
altered gDNA sequence snippet GAAGTCCAAGAAGAAGAGCATCAGGGCCAAGGCAGCAGGCG
original cDNA sequence snippet GAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCG
altered cDNA sequence snippet GAAGTCCAAGAAGAAGAGCATCAGGGCCAAGGCAGCAGGCG
wildtype AA sequence MDSMPEPASR CLLLLPLLLL LLLLLPAPEL GPSQAGAEEN DWVRLPSKCE GTCG*
mutated AA sequence N/A
speed 1.22 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