Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.954081386862717 (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) chr12:6562293C>TN/A show variant in all transcripts   IGV
HGNC symbol TAPBPL
Ensembl transcript ID ENST00000544021
Genbank transcript ID N/A
UniProt peptide Q9BX59
alteration type single base exchange
alteration region intron
DNA changes g.1438C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2041385
databasehomozygous (T/T)heterozygousallele carriers
1000G1398621001
ExAC27001487017570
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9310.702
-0.7770.005
(flanking)-1.4330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1436wt: 0.42 / mu: 0.75wt: GTGGTCCTAGACTGCTTCCTGGCGAAGGACGGTGCGCACCG
mu: GTGGTCCTAGACTGCTTCCTGGTGAAGGACGGTGCGCACCG		 cctg|GCGA
Donor marginally increased1436wt: 0.9965 / mu: 0.9967 (marginal change - not scored)wt: TTCCTGGCGAAGGAC
mu: TTCCTGGTGAAGGAC		 CCTG|gcga
distance from splice site 320
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
19405TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
4242CONFLICTA -> V (in Ref. 2; BAB41077 and 4; AAH15017).might get lost (downstream of altered splice site)
146146CONFLICTM -> V (in Ref. 2; BAA91465/BAB41077 and 4; AAH15017).might get lost (downstream of altered splice site)
165165CONFLICTT -> A (in Ref. 2; BAA91465/BAB41077 and 4; AAH15017).might get lost (downstream of altered splice site)
169169CONFLICTA -> V (in Ref. 2; BAB41077 and 4; AAH15017).might get lost (downstream of altered splice site)
181297DOMAINIg-like V-type.might get lost (downstream of altered splice site)
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
283283DISULFIDBy similarity.might get lost (downstream of altered splice site)
304394DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
321321DISULFIDBy similarity.might get lost (downstream of altered splice site)
382382DISULFIDBy similarity.might get lost (downstream of altered splice site)
406426TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
427468TOPO_DOMCytoplasmic (Potential).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 178 / 178
chromosome 12
strand 1
last intron/exon boundary 726
theoretical NMD boundary in CDS 498
length of CDS 558
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)		 1438
chromosomal position
(for ins/del: last normal base / first normal base)		 6562293
original gDNA sequence snippet GGTCCTAGACTGCTTCCTGGCGAAGGACGGTGCGCACCGTG
altered gDNA sequence snippet GGTCCTAGACTGCTTCCTGGTGAAGGACGGTGCGCACCGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGTQEGWCLL LCLALSGAAE TMDLVQIPQA EALLHADCSG KEVTCEISRY FLQMTETTVK
TAAWFMANMQ VSGGGPSISL VMKTPRVTKN EALWHPTLNL PLSPQGTVRT AVEFQVMTQT
QSLSFLLGSS ASLDCGFSMA PGLDLISVEW RLQHKGRGRG DLHLPDHHLS VPSSADHPAQ
HPSFP*
mutated AA sequence N/A
speed 0.87 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