Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.995489810833203 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:42627434G>AN/A show variant in all transcripts   IGV
HGNC symbol UBR2
Ensembl transcript ID ENST00000372899
Genbank transcript ID NM_015255
UniProt peptide Q8IWV8
alteration type single base exchange
alteration region CDS
DNA changes c.3283G>A
cDNA.3541G>A
g.95635G>A
AA changes A1095T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1095
frameshift no
known variant Reference ID: rs6917033
databasehomozygous (A/A)heterozygousallele carriers
1000G47612111687
ExAC97661323523001
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.890.737
0.7420.888
(flanking)2.0290.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased95637wt: 0.22 / mu: 0.30wt: CCCGCACAAACTCAG
mu: CCCACACAAACTCAG		 CGCA|caaa
Donor increased95636wt: 0.56 / mu: 0.69wt: CCCCGCACAAACTCA
mu: CCCCACACAAACTCA		 CCGC|acaa
Donor gained956350.89mu: GCCCCACACAAACTC CCCA|caca
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1095ASDMTLTALGPAQTQVPEQRQFVT
mutated  not conserved    1095ASDMTLTALGPTQTQVPEQRQFV
Ptroglodytes  all identical  ENSPTRG00000018171  1090ASDMTLTALGPAQTQVPEQRQFV
Mmulatta  not conserved  ENSMMUG00000005675  1097VSDMTLTALGPTQTQVPEQRQFV
Fcatus  all identical  ENSFCAG00000004141  1069VSDTTLTALGPAQTQVPEQR
Mmusculus  all identical  ENSMUSG00000023977  1095VSDAALTALGPAQTQVPEPRQFV
Ggallus  not conserved  ENSGALG00000009906  1095ISDAKLTALGPEQTRVAEHRQIV
Trubripes  not conserved  ENSTRUG00000004807  1102SSEPSSVSQTCVGPRRMGGADRREPV
Drerio  not conserved  ENSDARG00000070164  1073SCDSALVCVGPRRWRAGG
Dmelanogaster  not conserved  FBgn0030809  1103ALESKVACLGPDRKFYHGT
Celegans  not conserved  C32E8.11  1197GHDFPVCIGANKWHAELVKPRTL
Xtropicalis  not conserved  ENSXETG00000000201  1098MMDTKLVALGPHQTRISEPRQLV
protein features
start (aa)end (aa)featuredetails 
11081214ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5268 / 5268
position (AA) of stopcodon in wt / mu AA sequence 1756 / 1756
position of stopcodon in wt / mu cDNA 5526 / 5526
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 259 / 259
chromosome 6
strand 1
last intron/exon boundary 5385
theoretical NMD boundary in CDS 5076
length of CDS 5268
coding sequence (CDS) position 3283
cDNA position
(for ins/del: last normal base / first normal base)		 3541
gDNA position
(for ins/del: last normal base / first normal base)		 95635
chromosomal position
(for ins/del: last normal base / first normal base)		 42627434
original gDNA sequence snippet CACTTACAGCACTGGGCCCCGCACAAACTCAGGTTCCTGAA
altered gDNA sequence snippet CACTTACAGCACTGGGCCCCACACAAACTCAGGTTCCTGAA
original cDNA sequence snippet CACTTACAGCACTGGGCCCCGCACAAACTCAGGTTCCTGAA
altered cDNA sequence snippet CACTTACAGCACTGGGCCCCACACAAACTCAGGTTCCTGAA
wildtype AA sequence MASELEPEVQ AIDRSLLECS AEEIAGKWLQ ATDLTREVYQ HLAHYVPKIY CRGPNPFPQK
EDMLAQHVLL GPMEWYLCGE DPAFGFPKLE QANKPSHLCG RVFKVGEPTY SCRDCAVDPT
CVLCMECFLG SIHRDHRYRM TTSGGGGFCD CGDTEAWKEG PYCQKHELNT SEIEEEEDPL
VHLSEDVIAR TYNIFAITFR YAVEILTWEK ESELPADLEM VEKSDTYYCM LFNDEVHTYE
QVIYTLQKAV NCTQKEAIGF ATTVDRDGRR SVRYGDFQYC EQAKSVIVRN TSRQTKPLKV
QVMHSSIVAH QNFGLKLLSW LGSIIGYSDG LRRILCQVGL QEGPDGENSS LVDRLMLSDS
KLWKGARSVY HQLFMSSLLM DLKYKKLFAV RFAKNYQQLQ RDFMEDDHER AVSVTALSVQ
FFTAPTLARM LITEENLMSI IIKTFMDHLR HRDAQGRFQF ERYTALQAFK FRRVQSLILD
LKYVLISKPT EWSDELRQKF LEGFDAFLEL LKCMQGMDPI TRQVGQHIEM EPEWEAAFTL
QMKLTHVISM MQDWCASDEK VLIEAYKKCL AVLMQCHGGY TDGEQPITLS ICGHSVETIR
YCVSQEKVSI HLPVSRLLAG LHVLLSKSEV AYKFPELLPL SELSPPMLIE HPLRCLVLCA
QVHAGMWRRN GFSLVNQIYY YHNVKCRREM FDKDVVMLQT GVSMMDPNHF LMIMLSRFEL
YQIFSTPDYG KRFSSEITHK DVVQQNNTLI EEMLYLIIML VGERFSPGVG QVNATDEIKR
EIIHQLSIKP MAHSELVKSL PEDENKETGM ESVIEAVAHF KKPGLTGRGM YELKPECAKE
FNLYFYHFSR AEQSKAEEAQ RKLKRQNRED TALPPPVLPP FCPLFASLVN ILQSDVMLCI
MGTILQWAVE HNGYAWSESM LQRVLHLIGM ALQEEKQHLE NVTEEHVVTF TFTQKISKPG
EAPKNSPSIL AMLETLQNAP YLEVHKDMIR WILKTFNAVK KMRESSPTSP VAETEGTIME
ESSRDKDKAE RKRKAEIARL RREKIMAQMS EMQRHFIDEN KELFQQTLEL DASTSAVLDH
SPVASDMTLT ALGPAQTQVP EQRQFVTCIL CQEEQEVKVE SRAMVLAAFV QRSTVLSKNR
SKFIQDPEKY DPLFMHPDLS CGTHTSSCGH IMHAHCWQRY FDSVQAKEQR RQQRLRLHTS
YDVENGEFLC PLCECLSNTV IPLLLPPRNI FNNRLNFSDQ PNLTQWIRTI SQQIKALQFL
RKEESTPNNA STKNSENVDE LQLPEGFRPD FRPKIPYSES IKEMLTTFGT ATYKVGLKVH
PNEEDPRVPI MCWGSCAYTI QSIERILSDE DKPLFGPLPC RLDDCLRSLT RFAAAHWTVA
SVSVVQGHFC KLFASLVPND SHEELPCILD IDMFHLLVGL VLAFPALQCQ DFSGISLGTG
DLHIFHLVTM AHIIQILLTS CTEENGMDQE NPPCEEESAV LALYKTLHQY TGSALKEIPS
GWHLWRSVRA GIMPFLKCSA LFFHYLNGVP SPPDIQVPGT SHFEHLCSYL SLPNNLICLF
QENSEIMNSL IESWCRNSEV KRYLEGERDA IRYPRESNKL INLPEDYSSL INQASNFSCP
KSGGDKSRAP TLCLVCGSLL CSQSYCCQTE LEGEDVGACT AHTYSCGSGV GIFLRVRECQ
VLFLAGKTKG CFYSPPYLDD YGETDQGLRR GNPLHLCKER FKKIQKLWHQ HSVTEEIGHA
QEANQTLVGI DWQHL*
mutated AA sequence MASELEPEVQ AIDRSLLECS AEEIAGKWLQ ATDLTREVYQ HLAHYVPKIY CRGPNPFPQK
EDMLAQHVLL GPMEWYLCGE DPAFGFPKLE QANKPSHLCG RVFKVGEPTY SCRDCAVDPT
CVLCMECFLG SIHRDHRYRM TTSGGGGFCD CGDTEAWKEG PYCQKHELNT SEIEEEEDPL
VHLSEDVIAR TYNIFAITFR YAVEILTWEK ESELPADLEM VEKSDTYYCM LFNDEVHTYE
QVIYTLQKAV NCTQKEAIGF ATTVDRDGRR SVRYGDFQYC EQAKSVIVRN TSRQTKPLKV
QVMHSSIVAH QNFGLKLLSW LGSIIGYSDG LRRILCQVGL QEGPDGENSS LVDRLMLSDS
KLWKGARSVY HQLFMSSLLM DLKYKKLFAV RFAKNYQQLQ RDFMEDDHER AVSVTALSVQ
FFTAPTLARM LITEENLMSI IIKTFMDHLR HRDAQGRFQF ERYTALQAFK FRRVQSLILD
LKYVLISKPT EWSDELRQKF LEGFDAFLEL LKCMQGMDPI TRQVGQHIEM EPEWEAAFTL
QMKLTHVISM MQDWCASDEK VLIEAYKKCL AVLMQCHGGY TDGEQPITLS ICGHSVETIR
YCVSQEKVSI HLPVSRLLAG LHVLLSKSEV AYKFPELLPL SELSPPMLIE HPLRCLVLCA
QVHAGMWRRN GFSLVNQIYY YHNVKCRREM FDKDVVMLQT GVSMMDPNHF LMIMLSRFEL
YQIFSTPDYG KRFSSEITHK DVVQQNNTLI EEMLYLIIML VGERFSPGVG QVNATDEIKR
EIIHQLSIKP MAHSELVKSL PEDENKETGM ESVIEAVAHF KKPGLTGRGM YELKPECAKE
FNLYFYHFSR AEQSKAEEAQ RKLKRQNRED TALPPPVLPP FCPLFASLVN ILQSDVMLCI
MGTILQWAVE HNGYAWSESM LQRVLHLIGM ALQEEKQHLE NVTEEHVVTF TFTQKISKPG
EAPKNSPSIL AMLETLQNAP YLEVHKDMIR WILKTFNAVK KMRESSPTSP VAETEGTIME
ESSRDKDKAE RKRKAEIARL RREKIMAQMS EMQRHFIDEN KELFQQTLEL DASTSAVLDH
SPVASDMTLT ALGPTQTQVP EQRQFVTCIL CQEEQEVKVE SRAMVLAAFV QRSTVLSKNR
SKFIQDPEKY DPLFMHPDLS CGTHTSSCGH IMHAHCWQRY FDSVQAKEQR RQQRLRLHTS
YDVENGEFLC PLCECLSNTV IPLLLPPRNI FNNRLNFSDQ PNLTQWIRTI SQQIKALQFL
RKEESTPNNA STKNSENVDE LQLPEGFRPD FRPKIPYSES IKEMLTTFGT ATYKVGLKVH
PNEEDPRVPI MCWGSCAYTI QSIERILSDE DKPLFGPLPC RLDDCLRSLT RFAAAHWTVA
SVSVVQGHFC KLFASLVPND SHEELPCILD IDMFHLLVGL VLAFPALQCQ DFSGISLGTG
DLHIFHLVTM AHIIQILLTS CTEENGMDQE NPPCEEESAV LALYKTLHQY TGSALKEIPS
GWHLWRSVRA GIMPFLKCSA LFFHYLNGVP SPPDIQVPGT SHFEHLCSYL SLPNNLICLF
QENSEIMNSL IESWCRNSEV KRYLEGERDA IRYPRESNKL INLPEDYSSL INQASNFSCP
KSGGDKSRAP TLCLVCGSLL CSQSYCCQTE LEGEDVGACT AHTYSCGSGV GIFLRVRECQ
VLFLAGKTKG CFYSPPYLDD YGETDQGLRR GNPLHLCKER FKKIQKLWHQ HSVTEEIGHA
QEANQTLVGI DWQHL*
speed 0.62 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