Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.998599262147065 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77843384G>TN/A show variant in all transcripts   IGV
HGNC symbol SAMD15
Ensembl transcript ID ENST00000533095
Genbank transcript ID N/A
UniProt peptide Q9P1V8
alteration type single base exchange
alteration region intron
DNA changes g.353G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3742737
databasehomozygous (T/T)heterozygousallele carriers
1000G1828811063
ExAC70312382
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6630.01
1.2310.013
(flanking)0.6850.009
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -22) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased356wt: 0.68 / mu: 0.75wt: CGGCCCCTCAGCCGCCTGCAGGTCAGACATCTGCAGCCCGC
mu: CGGCCCCTCAGCCGCCTTCAGGTCAGACATCTGCAGCCCGC		 gcag|GTCA
Donor marginally increased355wt: 0.8116 / mu: 0.8525 (marginal change - not scored)wt: CCTGCAGGTCAGACA
mu: CCTTCAGGTCAGACA		 TGCA|ggtc
Acc gained3550.60mu: CCGGCCCCTCAGCCGCCTTCAGGTCAGACATCTGCAGCCCG ttca|GGTC
Donor gained3560.45mu: CTTCAGGTCAGACAT TCAG|gtca
distance from splice site 301
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
545608DOMAINSAM.might get lost (downstream of altered splice site)
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 122 / 122
chromosome 14
strand 1
last intron/exon boundary 152
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 267
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)		 353
chromosomal position
(for ins/del: last normal base / first normal base)		 77843384
original gDNA sequence snippet GCCCGGCCCCTCAGCCGCCTGCAGGTCAGACATCTGCAGCC
altered gDNA sequence snippet GCCCGGCCCCTCAGCCGCCTTCAGGTCAGACATCTGCAGCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGITNFEDMK AISRHTQELL EIEEPLFKRS ISLPYRDIIG LYLEQKGHTG IKSDSLTLSE
FVKAAGLQDY APEITAPEEN EELPCTEP*
mutated AA sequence N/A
speed 0.25 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