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 ENST00000429347
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.1168A>T
cDNA.1236A>T
g.123510A>T
AA changes M390L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 390
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      390YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    390YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867FTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140FTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805FTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864FTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885FTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854TKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836FTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995TFTKRCNVEEFELKSRKTIGYT
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 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2189 / 2189
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 69 / 69
chromosome 1
strand -1
last intron/exon boundary 2125
theoretical NMD boundary in CDS 2006
length of CDS 2121
coding sequence (CDS) position 1168
cDNA position
(for ins/del: last normal base / first normal base)		 1236
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 MRIVYRMRGL LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD
FKQGRHLLTV LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLGNLLL TGDKDQLVML
LDQINSTFVR SNPSVLQGLL RIIPYLSFGE VEKMQILVER FKPYCNFDKY DEDHSGDDKV
FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI TQNALDYMKK HIPSAKNLDA DIWKKFLSRP
ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN LHKLEQVSSD EGIGTLAENL LEALREHPDV
NKKIDAARRE TRAEKKRMAM AMRQKALGTL GMTTNEKGQV VTKTALLKQM EELIEEPGLT
CCICREGYKF QPTKVLGIYT FTKRVALEEM ENKPRKQQGY STVSHFNIVH YDCHLAAVRL
ARGREEWESA ALQNANTKCN GLLPVWGPHV PESAFATCLA RHNTYLQECT GQREPTYQLN
IHDIKLLFLR FAMEQSFSAD TGGGGRESNI HLIPYIIHTV LYVLNTTRAT SREEKNLQGF
LEQPKEKWVE SAFEVDGPYY FTVLALHILP PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT
RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA
ADKALKTFQE EFMPVETFSE FLDVAGLLSE ITDPESFLKD LLNSVP*
mutated AA sequence MRIVYRMRGL LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD
FKQGRHLLTV LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLGNLLL TGDKDQLVML
LDQINSTFVR SNPSVLQGLL RIIPYLSFGE VEKMQILVER FKPYCNFDKY DEDHSGDDKV
FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI TQNALDYMKK HIPSAKNLDA DIWKKFLSRP
ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN LHKLEQVSSD EGIGTLAENL LEALREHPDV
NKKIDAARRE TRAEKKRMAM AMRQKALGTL GMTTNEKGQV VTKTALLKQM EELIEEPGLT
CCICREGYKF QPTKVLGIYT FTKRVALEEL ENKPRKQQGY STVSHFNIVH YDCHLAAVRL
ARGREEWESA ALQNANTKCN GLLPVWGPHV PESAFATCLA RHNTYLQECT GQREPTYQLN
IHDIKLLFLR FAMEQSFSAD TGGGGRESNI HLIPYIIHTV LYVLNTTRAT SREEKNLQGF
LEQPKEKWVE SAFEVDGPYY FTVLALHILP PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT
RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA
ADKALKTFQE EFMPVETFSE FLDVAGLLSE ITDPESFLKD LLNSVP*
speed 1.04 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