Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 9.42704647865885e-14 (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) chr15:40914177T>CN/A show variant in all transcripts   IGV
HGNC symbol KNL1
Ensembl transcript ID ENST00000527044
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.2031T>C
g.27960T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs11858113
databasehomozygous (C/C)heterozygousallele carriers
1000G32611081434
ExAC97871319322980
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1351
0.2421
(flanking)3.8471
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 549)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased27952wt: 0.47 / mu: 0.73wt: TCAGGTGAAAATATG
mu: TCAGGTGAAAATACG		 AGGT|gaaa
Donor marginally increased27951wt: 0.4935 / mu: 0.5449 (marginal change - not scored)wt: ATCAGGTGAAAATAT
mu: ATCAGGTGAAAATAC		 CAGG|tgaa
distance from splice site 1181
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 376 / 376
chromosome 15
strand 1
last intron/exon boundary 692
theoretical NMD boundary in CDS 266
length of CDS 342
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 2031
gDNA position
(for ins/del: last normal base / first normal base)		 27960
chromosomal position
(for ins/del: last normal base / first normal base)		 40914177
original gDNA sequence snippet ACTCTTATCAGGTGAAAATATGGATTTGACTGAAAGTCACA
altered gDNA sequence snippet ACTCTTATCAGGTGAAAATACGGATTTGACTGAAAGTCACA
original cDNA sequence snippet ACTCTTATCAGGTGAAAATATGGATTTGACTGAAAGTCACA
altered cDNA sequence snippet ACTCTTATCAGGTGAAAATACGGATTTGACTGAAAGTCACA
wildtype AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEETGENLL LIQNKKLEDN YCEITVFNYR TYP*
mutated AA sequence N/A
speed 0.99 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