Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999836750142 (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) chr20:61870727G>CN/A show variant in all transcripts   IGV
HGNC symbol BIRC7
Ensembl transcript ID ENST00000342412
Genbank transcript ID NM_022161
UniProt peptide Q96CA5
alteration type single base exchange
alteration region intron
DNA changes g.3493G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1077019
databasehomozygous (C/C)heterozygousallele carriers
1000G1688991067
ExAC23091786220171
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.130.005
0.1020.008
(flanking)0.7380.015
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 increased3484wt: 0.9371 / mu: 0.9728 (marginal change - not scored)wt: GGGTCAGTCCAGCCG
mu: GGGTCAGTCCAGCCC		 GTCA|gtcc
Donor increased3497wt: 0.53 / mu: 0.61wt: CGAGGCCCAGAGGGC
mu: CCAGGCCCAGAGGGC		 AGGC|ccag
Donor gained34950.36mu: GCCCAGGCCCAGAGG CCAG|gccc
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
243249HELIXmight get lost (downstream of altered splice site)
252286ZN_FINGRING-type.might get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
256259STRANDmight get lost (downstream of altered splice site)
262265STRANDmight get lost (downstream of altered splice site)
273275TURNmight get lost (downstream of altered splice site)
276278HELIXmight get lost (downstream of altered splice site)
283285TURNmight get lost (downstream of altered splice site)
291294STRANDmight 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 215 / 215
chromosome 20
strand 1
last intron/exon boundary 1063
theoretical NMD boundary in CDS 798
length of CDS 843
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)		 3493
chromosomal position
(for ins/del: last normal base / first normal base)		 61870727
original gDNA sequence snippet TAGGAGGGGTCAGTCCAGCCGAGGCCCAGAGGGCGTGGTGG
altered gDNA sequence snippet TAGGAGGGGTCAGTCCAGCCCAGGCCCAGAGGGCGTGGTGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGPKDSAKCL HRGPQPSHWA AGDGPTQERC GPRSLGSPVL GLDTCRAWDH VDGQILGQLR
PLTEEEEEEG AGATLSRGPA FPGMGSEELR LASFYDWPLT AEVPPELLAA AGFFHTGHQD
KVRCFFCYGG LQSWKRGDDP WTEHAKWFPS CQFLLRSKGR DFVHSVQETH SQLLGSWDPW
EEPEDAAPVA PSVPASGYPE LPTPRREVQS ESAQEPGARD VEAQLRRLQE ERTCKVCLDR
AVSIVFVPCG HLVCAECAPG LQLCPICRAP VRSRVRTFLS *
mutated AA sequence N/A
speed 1.01 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