Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999966 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM077855)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7592168C>GN/A show variant in all transcripts   IGV
HGNC symbol WRAP53
Ensembl transcript ID ENST00000316024
Genbank transcript ID NM_018081
UniProt peptide Q9BUR4
alteration type single base exchange
alteration region CDS
DNA changes c.202C>G
cDNA.2550C>G
g.2780C>G
AA changes R68G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 68
frameshift no
known variant Reference ID: rs2287499
databasehomozygous (G/G)heterozygousallele carriers
1000G6377631400
ExAC48311590720738

known disease mutation at this position, please check HGMD for details (HGMD ID CM077855)
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
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4870
0.0250
(flanking)0.2220.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased2779wt: 0.84 / mu: 0.99wt: GAGCTACGGGAGGGG
mu: GAGCTAGGGGAGGGG		 GCTA|cggg
distance from splice site 230
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      68PVAGSAVSQELREGDPVSLSTPLE
mutated  not conserved    68SAVSQELGEGDPVSLSTPL
Ptroglodytes  not conserved  ENSPTRG00000008705  68SAVSQELGEGDPVSLSTPL
Mmulatta  not conserved  ENSMMUG00000008637  68SAVPQELGEGDPVSLSTPL
Fcatus  not conserved  ENSFCAG00000009624  65SAGSQETGEGGSASISAPP
Mmusculus  all conserved  ENSMUSG00000041346  65LVVSQELQQGD----SVPL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086150  45AAKQPRLQQEDVALDFPM
Dmelanogaster  no alignment  FBgn0031782  n/a
Celegans  all identical  Y105E8A.8  34RCGIASLLSSLRSDHLASKIDEL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
8585MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9090MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
112112MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
114114MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
167206REPEATWD 1.might get lost (downstream of altered splice site)
222267REPEATWD 2.might get lost (downstream of altered splice site)
272313REPEATWD 3.might get lost (downstream of altered splice site)
323364REPEATWD 4.might get lost (downstream of altered splice site)
365405REPEATWD 5.might get lost (downstream of altered splice site)
411450REPEATWD 6.might get lost (downstream of altered splice site)
489489MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
491491MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
497497CONFLICTE -> G (in Ref. 2; BAG51781).might get lost (downstream of altered splice site)
526526CONFLICTS -> G (in Ref. 2; BAG51781).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1647 / 1647
position (AA) of stopcodon in wt / mu AA sequence 549 / 549
position of stopcodon in wt / mu cDNA 3995 / 3995
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 2349 / 2349
chromosome 17
strand 1
last intron/exon boundary 3752
theoretical NMD boundary in CDS 1353
length of CDS 1647
coding sequence (CDS) position 202
cDNA position
(for ins/del: last normal base / first normal base)		 2550
gDNA position
(for ins/del: last normal base / first normal base)		 2780
chromosomal position
(for ins/del: last normal base / first normal base)		 7592168
original gDNA sequence snippet CAGCTGTGTCCCAGGAGCTACGGGAGGGGGACCCAGTTTCT
altered gDNA sequence snippet CAGCTGTGTCCCAGGAGCTAGGGGAGGGGGACCCAGTTTCT
original cDNA sequence snippet CAGCTGTGTCCCAGGAGCTACGGGAGGGGGACCCAGTTTCT
altered cDNA sequence snippet CAGCTGTGTCCCAGGAGCTAGGGGAGGGGGACCCAGTTTCT
wildtype AA sequence MKTLETQPLA PDCCPSDQDP APAHPSPHAS PMNKNADSEL MPPPPERGDP PRLSPDPVAG
SAVSQELREG DPVSLSTPLE TEFGSPSELS PRIEEQELSE NTSLPAEEAN GSLSEEEANG
PELGSGKAME DTSGEPAAED EGDTAWNYSF SQLPRFLSGS WSEFSTQPEN FLKGCKWAPD
GSCILTNSAD NILRIYNLPP ELYHEGEQVE YAEMVPVLRM VEGDTIYDYC WYSLMSSAQP
DTSYVASSSR ENPIHIWDAF TGELRASFRA YNHLDELTAA HSLCFSPDGS QLFCGFNRTV
RVFSTARPGR DCEVRATFAK KQGQSGIISC IAFSPAQPLY ACGSYGRSLG LYAWDDGSPL
ALLGGHQGGI THLCFHPDGN RFFSGARKDA ELLCWDLRQS GYPLWSLGRE VTTNQRIYFD
LDPTGQFLVS GSTSGAVSVW DTDGPGNDGK PEPVLSFLPQ KDCTNGVSLH PSLPLLATAS
GQRVFPEPTE SGDEGEELGL PLLSTRHVHL ECRLQLWWCG GAPDSSIPDD HQGEKGQGGT
EGGVGELI*
mutated AA sequence MKTLETQPLA PDCCPSDQDP APAHPSPHAS PMNKNADSEL MPPPPERGDP PRLSPDPVAG
SAVSQELGEG DPVSLSTPLE TEFGSPSELS PRIEEQELSE NTSLPAEEAN GSLSEEEANG
PELGSGKAME DTSGEPAAED EGDTAWNYSF SQLPRFLSGS WSEFSTQPEN FLKGCKWAPD
GSCILTNSAD NILRIYNLPP ELYHEGEQVE YAEMVPVLRM VEGDTIYDYC WYSLMSSAQP
DTSYVASSSR ENPIHIWDAF TGELRASFRA YNHLDELTAA HSLCFSPDGS QLFCGFNRTV
RVFSTARPGR DCEVRATFAK KQGQSGIISC IAFSPAQPLY ACGSYGRSLG LYAWDDGSPL
ALLGGHQGGI THLCFHPDGN RFFSGARKDA ELLCWDLRQS GYPLWSLGRE VTTNQRIYFD
LDPTGQFLVS GSTSGAVSVW DTDGPGNDGK PEPVLSFLPQ KDCTNGVSLH PSLPLLATAS
GQRVFPEPTE SGDEGEELGL PLLSTRHVHL ECRLQLWWCG GAPDSSIPDD HQGEKGQGGT
EGGVGELI*
speed 0.16 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