Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 4.51405716462716e-05 (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) chr7:37947164G>TN/A show variant in all transcripts   IGV
HGNC symbol EPDR1
Ensembl transcript ID ENST00000476620
Genbank transcript ID N/A
UniProt peptide Q9UM22
alteration type single base exchange
alteration region intron
DNA changes g.223719G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1802073
databasehomozygous (T/T)heterozygousallele carriers
1000G76411901954
ExAC12116853520651
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0240.519
0.3720.669
(flanking)1.7180.975
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -11) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased223730wt: 0.80 / mu: 0.95wt: GAGCAGGAGGCTTTCCCTTTGGTTTGGGGGGATTACTACGA
mu: GAGCAGGAGTCTTTCCCTTTGGTTTGGGGGGATTACTACGA		 tttg|GTTT
Donor increased223712wt: 0.31 / mu: 0.92wt: TGGGAGCAGGAGGCT
mu: TGGGAGCAGGAGTCT		 GGAG|cagg
Acc gained2237290.32mu: GGAGCAGGAGTCTTTCCCTTTGGTTTGGGGGGATTACTACG cttt|GGTT
distance from splice site 41278
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
137SIGNALPotential.might get lost (downstream of altered splice site)
130130CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
182182CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
207207CONFLICTP -> S (in Ref. 7; CAB60269).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 171 / 171
chromosome 7
strand 1
last intron/exon boundary 343
theoretical NMD boundary in CDS 122
length of CDS 369
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)		 223719
chromosomal position
(for ins/del: last normal base / first normal base)		 37947164
original gDNA sequence snippet GGCTGGTTTGGGAGCAGGAGGCTTTCCCTTTGGTTTGGGGG
altered gDNA sequence snippet GGCTGGTTTGGGAGCAGGAGTCTTTCCCTTTGGTTTGGGGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MFQIDQATKQ CSKMTLTQPW DPLDIPQNST FEDQYSIGGP QEQITVQEWS DRKSARSYET
WIGIYTVKDC YPVQETFTIN YSVILSTRFF DIQLGIKDPS VFTPPSTCQM AQLEKMSEDC
SW*
mutated AA sequence N/A
speed 0.64 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