Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996423 (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) chr17:5042894T>CN/A show variant in all transcripts   IGV
HGNC symbol USP6
Ensembl transcript ID ENST00000304328
Genbank transcript ID N/A
UniProt peptide P35125
alteration type single base exchange
alteration region CDS
DNA changes c.472T>C
cDNA.3333T>C
g.23162T>C
AA changes W158R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 158
frameshift no
known variant Reference ID: rs8073787
databasehomozygous (C/C)heterozygousallele carriers
1000G15607612321
ExAC26683-205996084
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5540.001
-1.1820.001
(flanking)-1.250.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased23154wt: 0.9244 / mu: 0.9488 (marginal change - not scored)wt: CCCTTGGTTCCCCCATTATGATTTTGAATGGAGCTGCTGGG
mu: CCCTTGGTTCCCCCATTATGATTTTGAACGGAGCTGCTGGG		 atga|TTTT
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      158GGPWFPHYDFEWSCWVRAISQEDQ
mutated  not conserved    158GGPWFPHYDFERSCWVRAISQED
Ptroglodytes  all identical  ENSPTRG00000008624  475YDFEWSCWIRAISQED
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000009074  n/a
Mmusculus  no alignment  ENSMUSG00000000804  n/a
Ggallus  no alignment  ENSGALG00000005350  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000061895  n/a
Dmelanogaster  no alignment  FBgn0036913  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000013503  n/a
protein features
start (aa)end (aa)featuredetails 
100292DOMAINRab-GAP TBC.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3270 / 3270
position (AA) of stopcodon in wt / mu AA sequence 1090 / 1090
position of stopcodon in wt / mu cDNA 6131 / 6131
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 2862 / 2862
chromosome 17
strand 1
last intron/exon boundary 5958
theoretical NMD boundary in CDS 3046
length of CDS 3270
coding sequence (CDS) position 472
cDNA position
(for ins/del: last normal base / first normal base)		 3333
gDNA position
(for ins/del: last normal base / first normal base)		 23162
chromosomal position
(for ins/del: last normal base / first normal base)		 5042894
original gDNA sequence snippet TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC
altered gDNA sequence snippet TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC
original cDNA sequence snippet TCCCCCATTATGATTTTGAATGGAGCTGCTGGGTCCGTGCC
altered cDNA sequence snippet TCCCCCATTATGATTTTGAACGGAGCTGCTGGGTCCGTGCC
wildtype AA sequence MPQRLPHARQ HTPLPLGSAD YRRVVSVRPQ GPHRDPKDSR DAAKREQGSL APRPVPASRG
GKTLCKGYRQ APPGPPAQFQ RPICSASPPW ASRFSTPCPG GAVREDTYPV GTQGVPSLAL
AQGGPQGSWR FLEWKSMPRL PTDLDIGGPW FPHYDFEWSC WVRAISQEDQ LATCWQAEHC
GEVHNKDMSW PEEMSFTANS SKIDRQKVPT EKGATGLSNL GNTCFMNSSI QCVSNTQPLT
QYFISGRHLY ELNRTNPIGM KGHMAKCYGD LVQELWSGTQ KSVAPLKLRR TIAKYAPKFD
GFQQQDSQEL LAFLLDGLHE DLNRVHEKPY VELKDSDGRP DWEVAAEAWD NHLRRNRSII
VDLFHGQLRS QVKCKTCGHI SVRFDPFNFL SLPLPMDSYM DLEITVIKLD GTTPVRYGLR
LNMDEKYTGL KKQLRDLCGL NSEQILLAEV HDSNIKNFPQ DNQKVQLSVS GFLCAFEIPV
PSSPISASSP TQIDFSSSPS TNGMFTLTTN GDLPKPIFIP NGMPNTVVPC GTEKNFTNGM
VNGHMPSLPD SPFTGYIIAV HRKMMRTELY FLSPQENRPS LFGMPLIVPC TVHTRKKDLY
DAVWIQVSWL ARPLPPQEAS IHAQDRDNCM GYQYPFTLRV VQKDGNSCAW CPQYRFCRGC
KIDCGEDRAF IGNAYIAVDW HPTALHLRYQ TSQERVVDKH ESVEQSRRAQ AEPINLDSCL
RAFTSEEELG ESEMYYCSKC KTHCLATKKL DLWRLPPFLI IHLKRFQFVN DQWIKSQKIV
RFLRESFDPS AFLVPRDPAL CQHKPLTPQG DELSKPRILA REVKKVDAQS SAGKEDMLLS
KSPSSLSANI SSSPKGSPSS SRKSGTSCPS SKNSSPNSSP RTLGRSKGRL RLPQIGSKNK
PSSSKKNLDA SKENGAGQIC ELADALSRGH MRGGSQPELV TPQDHEVALA NGFLYEHEAC
GNGCGDGYSN GQLGNHSEED STDDQREDTH IKPIYNLYAI SCHSGILSGG HYITYAKNPN
CKWYCYNDSS CEELHPDEID TDSAYILFYE QQGIDYAQFL PKIDGKKMAD TSSTDEDSES
DYEKYSMLQ*
mutated AA sequence MPQRLPHARQ HTPLPLGSAD YRRVVSVRPQ GPHRDPKDSR DAAKREQGSL APRPVPASRG
GKTLCKGYRQ APPGPPAQFQ RPICSASPPW ASRFSTPCPG GAVREDTYPV GTQGVPSLAL
AQGGPQGSWR FLEWKSMPRL PTDLDIGGPW FPHYDFERSC WVRAISQEDQ LATCWQAEHC
GEVHNKDMSW PEEMSFTANS SKIDRQKVPT EKGATGLSNL GNTCFMNSSI QCVSNTQPLT
QYFISGRHLY ELNRTNPIGM KGHMAKCYGD LVQELWSGTQ KSVAPLKLRR TIAKYAPKFD
GFQQQDSQEL LAFLLDGLHE DLNRVHEKPY VELKDSDGRP DWEVAAEAWD NHLRRNRSII
VDLFHGQLRS QVKCKTCGHI SVRFDPFNFL SLPLPMDSYM DLEITVIKLD GTTPVRYGLR
LNMDEKYTGL KKQLRDLCGL NSEQILLAEV HDSNIKNFPQ DNQKVQLSVS GFLCAFEIPV
PSSPISASSP TQIDFSSSPS TNGMFTLTTN GDLPKPIFIP NGMPNTVVPC GTEKNFTNGM
VNGHMPSLPD SPFTGYIIAV HRKMMRTELY FLSPQENRPS LFGMPLIVPC TVHTRKKDLY
DAVWIQVSWL ARPLPPQEAS IHAQDRDNCM GYQYPFTLRV VQKDGNSCAW CPQYRFCRGC
KIDCGEDRAF IGNAYIAVDW HPTALHLRYQ TSQERVVDKH ESVEQSRRAQ AEPINLDSCL
RAFTSEEELG ESEMYYCSKC KTHCLATKKL DLWRLPPFLI IHLKRFQFVN DQWIKSQKIV
RFLRESFDPS AFLVPRDPAL CQHKPLTPQG DELSKPRILA REVKKVDAQS SAGKEDMLLS
KSPSSLSANI SSSPKGSPSS SRKSGTSCPS SKNSSPNSSP RTLGRSKGRL RLPQIGSKNK
PSSSKKNLDA SKENGAGQIC ELADALSRGH MRGGSQPELV TPQDHEVALA NGFLYEHEAC
GNGCGDGYSN GQLGNHSEED STDDQREDTH IKPIYNLYAI SCHSGILSGG HYITYAKNPN
CKWYCYNDSS CEELHPDEID TDSAYILFYE QQGIDYAQFL PKIDGKKMAD TSSTDEDSES
DYEKYSMLQ*
speed 0.90 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