Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999707 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:150210685C>TN/A show variant in all transcripts   IGV
HGNC symbol RAET1E
Ensembl transcript ID ENST00000367363
Genbank transcript ID NM_001243325
UniProt peptide Q8TD07
alteration type single base exchange
alteration region CDS
DNA changes c.313G>A
cDNA.446G>A
g.8554G>A
AA changes A105T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 105
frameshift no
known variant Reference ID: rs9383921
databasehomozygous (T/T)heterozygousallele carriers
1000G7079361643
ExAC13026671519741
regulatory features Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0710
-0.2950
(flanking)-0.1380.002
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 increased8557wt: 0.9199 / mu: 0.9534 (marginal change - not scored)wt: TCGCCACCAATGGAG
mu: TCACCACCAATGGAG		 GCCA|ccaa
distance from splice site 75
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      105AERCTGASWQFATNGEKSLLFDAM
mutated  not conserved    105AERCTGASWQFTTNGEKSLLFDA
Ptroglodytes  all identical  ENSPTRG00000022565  141AERCTGASWQFAINGEKSLLFDA
Mmulatta  not conserved  ENSMMUG00000005580  115AERCTGASWQFTINGEKCLLFDA
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
31116REGIONMHC class I alpha-1 like.lost
31225TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 684 / 684
position (AA) of stopcodon in wt / mu AA sequence 228 / 228
position of stopcodon in wt / mu cDNA 817 / 817
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 134 / 134
chromosome 6
strand -1
last intron/exon boundary 648
theoretical NMD boundary in CDS 464
length of CDS 684
coding sequence (CDS) position 313
cDNA position
(for ins/del: last normal base / first normal base)		 446
gDNA position
(for ins/del: last normal base / first normal base)		 8554
chromosomal position
(for ins/del: last normal base / first normal base)		 150210685
original gDNA sequence snippet CTGGTGCATCCTGGCAGTTCGCCACCAATGGAGAGAAATCC
altered gDNA sequence snippet CTGGTGCATCCTGGCAGTTCACCACCAATGGAGAGAAATCC
original cDNA sequence snippet CTGGTGCATCCTGGCAGTTCGCCACCAATGGAGAGAAATCC
altered cDNA sequence snippet CTGGTGCATCCTGGCAGTTCACCACCAATGGAGAGAAATCC
wildtype AA sequence MRRISLTSSP VRLLLFLLLL LIALEIMYNS DNNMVKPLGL LGKKVYATST WGELTQTLGE
VGRDLRMLLC DIKPQIKTSD PSTLQVEMFC QREAERCTGA SWQFATNGEK SLLFDAMNMT
WTVINHEASK IKETWKKDRG LEKYFRKLSK GDCDHWLREF LGHWEAMPEP TVSPVNASDI
HWSSSSLPDR WIILGAFILL VLMGIVLICV WWQNGEWQAG LWPLRTS*
mutated AA sequence MRRISLTSSP VRLLLFLLLL LIALEIMYNS DNNMVKPLGL LGKKVYATST WGELTQTLGE
VGRDLRMLLC DIKPQIKTSD PSTLQVEMFC QREAERCTGA SWQFTTNGEK SLLFDAMNMT
WTVINHEASK IKETWKKDRG LEKYFRKLSK GDCDHWLREF LGHWEAMPEP TVSPVNASDI
HWSSSSLPDR WIILGAFILL VLMGIVLICV WWQNGEWQAG LWPLRTS*
speed 0.86 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