Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.292788242485705 (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) chr10:21414892C>GN/A show variant in all transcripts   IGV
HGNC symbol C10orf113
Ensembl transcript ID ENST00000529198
Genbank transcript ID NM_001177483
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.414G>C
g.20597G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs625223
databasehomozygous (G/G)heterozygousallele carriers
1000G81410911905
ExAC110901058721677
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5320.71
0.7690.549
(flanking)-0.5980.182
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 120) splice site change occurs after stopcodon (at aa 122)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased20592wt: 0.22 / mu: 0.76wt: TCCTGAACCAGATCC
mu: TCCTGAACCACATCC		 CTGA|acca
Donor increased20598wt: 0.57 / mu: 0.82wt: ACCAGATCCAGGCAA
mu: ACCACATCCAGGCAA		 CAGA|tcca
distance from splice site 196
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 52 / 52
chromosome 10
strand -1
last intron/exon boundary 219
theoretical NMD boundary in CDS 117
length of CDS 240
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 414
gDNA position
(for ins/del: last normal base / first normal base)		 20597
chromosomal position
(for ins/del: last normal base / first normal base)		 21414892
original gDNA sequence snippet TCCAGGCAGCTCCTGAACCAGATCCAGGCAACTGGGCCAAG
altered gDNA sequence snippet TCCAGGCAGCTCCTGAACCACATCCAGGCAACTGGGCCAAG
original cDNA sequence snippet TCCAGGCAGCTCCTGAACCAGATCCAGGCAACTGGGCCAAG
altered cDNA sequence snippet TCCAGGCAGCTCCTGAACCACATCCAGGCAACTGGGCCAAG
wildtype AA sequence MAKSERRIYS MESMAPEISE DIGCPLAYMR ESVCALLINQ SFFSCVAEMY IPDMNRLEER
TAALYPIGLV RQNGEPRRA*
mutated AA sequence N/A
speed 0.58 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