Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999846631711 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:65988049T>CN/A show variant in all transcripts   IGV
HGNC symbol C17orf58
Ensembl transcript ID ENST00000334461
Genbank transcript ID NM_181656
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.732A>G
g.1717A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9891146
databasehomozygous (C/C)heterozygousallele carriers
1000G69310531746
ExAC25842-189176925
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5460.01
-0.1350.002
(flanking)-0.4730.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 138)
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained17110.93mu: TTCAAGGTGCAGTTC CAAG|gtgc
distance from splice site 171
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 316 / 316
chromosome 17
strand -1
last intron/exon boundary 562
theoretical NMD boundary in CDS 196
length of CDS 228
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 732
gDNA position
(for ins/del: last normal base / first normal base)		 1717
chromosomal position
(for ins/del: last normal base / first normal base)		 65988049
original gDNA sequence snippet AAGGGCAGATTCAAGGTGCAATTCATACCCAATGCATTTGA
altered gDNA sequence snippet AAGGGCAGATTCAAGGTGCAGTTCATACCCAATGCATTTGA
original cDNA sequence snippet AAGGGCAGATTCAAGGTGCAATTCATACCCAATGCATTTGA
altered cDNA sequence snippet AAGGGCAGATTCAAGGTGCAGTTCATACCCAATGCATTTGA
wildtype AA sequence MNRLYLTPDG FFFRVHMLAL DSSSCNKPCP EFKPGIETDL NDAAYVLYTT VCNVGATARA
VGRPAFFWER WETMT*
mutated AA sequence N/A
speed 0.94 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