Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (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) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000543981
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.1591A>T
cDNA.1603A>T
g.123510A>T
AA changes M531L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 531
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      531YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    531YTFTKRVALEELENKPRKQQG
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
608631COMPBIASPro-rich.might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
850870TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9931013TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10841084MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16561729ZN_FINGUBR-type.might get lost (downstream of altered splice site)
20162016CONFLICTA -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
24102410CONFLICTD -> E (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
27152715MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27182718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27192719MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27222722MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
27242724MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
27282738COMPBIASPoly-Asp.might get lost (downstream of altered splice site)
33393370COMPBIASSer-rich.might get lost (downstream of altered splice site)
39573957CONFLICTG -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
45894589CONFLICTG -> V (in Ref. 7; AAH18694).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2544 / 2544
position (AA) of stopcodon in wt / mu AA sequence 848 / 848
position of stopcodon in wt / mu cDNA 2556 / 2556
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 13 / 13
chromosome 1
strand -1
last intron/exon boundary 2492
theoretical NMD boundary in CDS 2429
length of CDS 2544
coding sequence (CDS) position 1591
cDNA position
(for ins/del: last normal base / first normal base)		 1603
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MAVCIETAKR YNLDDYRTPV FIFERLCSII YPEENEVTEF FVTLEKDPQQ EDFLQGRMPG
NPYSSNEPGI GPLMRDIKNK ICQDCDLVAL LEDDSGMEGE PMRIVYRMRG LLGDATEEFI
ESLDSTTDEE EDEEEVYKMA GVMAQCGGLE CMLNRLAGIR DFKQGRHLLT VLLKLFSYCV
KVKVNRQQLV KLEMNTLNVM LGTLNLALVA EQESKDSGGA AVAEQVLSIM EIILDESNAE
PLSEDKGNLL LTGDKDQLVM LLDQINSTFV RSNPSVLQGL LRIIPYLSFG EVEKMQILVE
RFKPYCNFDK YDEDHSGDDK VFLDCFCKIA AGIKNNSNGH QLKDLILQKG ITQNALDYMK
KHIPSAKNLD ADIWKKFLSR PALPFILRLL RGLAIQHPGT QVLIGTDSIP NLHKLEQVSS
DEGIGTLAEN LLEALREHPD VNKKIDAARR ETRAEKKRMA MAMRQKALGT LGMTTNEKGQ
VVTKTALLKQ MEELIEEPGL TCCICREGYK FQPTKVLGIY TFTKRVALEE MENKPRKQQG
YSTVSHFNIV HYDCHLAAVR LARGREEWES AALQNANTKC NGLLPVWGPH VPESAFATCL
ARHNTYLQEC TGQREPTYQL NIHDIKLLFL RFAMEQSFSA DTGGGGRESN IHLIPYIIHT
VLYVLNTTRA TSREEKNLQG FLEQPKEKWV ESAFEVDGPY YFTVLALHIL PPEQWRATRV
EILRRLLVTS QARAVAPGGA TRLTDKAVKD YSAYRSSLLF WALVDLIYNM FKKVPTSNTE
GGWSCSLAEY IRHNDMPIYE AADKALKTFQ EEFMPVETFS EFLDVAGLLS EITDPESFLK
DLLNSVP*
mutated AA sequence MAVCIETAKR YNLDDYRTPV FIFERLCSII YPEENEVTEF FVTLEKDPQQ EDFLQGRMPG
NPYSSNEPGI GPLMRDIKNK ICQDCDLVAL LEDDSGMEGE PMRIVYRMRG LLGDATEEFI
ESLDSTTDEE EDEEEVYKMA GVMAQCGGLE CMLNRLAGIR DFKQGRHLLT VLLKLFSYCV
KVKVNRQQLV KLEMNTLNVM LGTLNLALVA EQESKDSGGA AVAEQVLSIM EIILDESNAE
PLSEDKGNLL LTGDKDQLVM LLDQINSTFV RSNPSVLQGL LRIIPYLSFG EVEKMQILVE
RFKPYCNFDK YDEDHSGDDK VFLDCFCKIA AGIKNNSNGH QLKDLILQKG ITQNALDYMK
KHIPSAKNLD ADIWKKFLSR PALPFILRLL RGLAIQHPGT QVLIGTDSIP NLHKLEQVSS
DEGIGTLAEN LLEALREHPD VNKKIDAARR ETRAEKKRMA MAMRQKALGT LGMTTNEKGQ
VVTKTALLKQ MEELIEEPGL TCCICREGYK FQPTKVLGIY TFTKRVALEE LENKPRKQQG
YSTVSHFNIV HYDCHLAAVR LARGREEWES AALQNANTKC NGLLPVWGPH VPESAFATCL
ARHNTYLQEC TGQREPTYQL NIHDIKLLFL RFAMEQSFSA DTGGGGRESN IHLIPYIIHT
VLYVLNTTRA TSREEKNLQG FLEQPKEKWV ESAFEVDGPY YFTVLALHIL PPEQWRATRV
EILRRLLVTS QARAVAPGGA TRLTDKAVKD YSAYRSSLLF WALVDLIYNM FKKVPTSNTE
GGWSCSLAEY IRHNDMPIYE AADKALKTFQ EEFMPVETFS EFLDVAGLLS EITDPESFLK
DLLNSVP*
speed 1.34 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