Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UBR4 (ubiquitin protein ligase E3 component n-recognin 4)

Identity

Alias_namesZUBR1
zinc finger, UBR1 type 1
Alias_symbol (synonym)KIAA1307
KIAA0462
RBAF600
Other aliasp600
HGNC (Hugo) UBR4
LocusID (NCBI) 23352
Atlas_Id 47181
Location 1p36.13  [Link to chromosome band 1p36]
Location_base_pair Starts at 19074511 and ends at 19210266 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CAPZB (1p36.13) / UBR4 (1p36.13)CYFIP1 (15q11.2) / UBR4 (1p36.13)DSCAML1 (11q23.3) / UBR4 (1p36.13)
DYNC1H1 (14q32.31) / UBR4 (1p36.13)IFFO2 (1p36.13) / UBR4 (1p36.13)PCBP2 (12q13.13) / UBR4 (1p36.13)
PDIA4 (7q36.1) / UBR4 (1p36.13)PPIE (1p34.2) / UBR4 (1p36.13)UBR4 (1p36.13) / ATP13A2 (1p36.13)
UBR4 (1p36.13) / CAPZB (1p36.13)UBR4 (1p36.13) / CDKN1A (6p21.2)UBR4 (1p36.13) / FOXK1 (7p22.1)
UBR4 (1p36.13) / GLB1 (3p22.3)UBR4 (1p36.13) / HSPG2 (1p36.12)UBR4 (1p36.13) / KDM4B (19p13.3)
UBR4 (1p36.13) / MICAL1 (6q21)UBR4 (1p36.13) / NRP1 (10p11.22)UBR4 (1p36.13) / PAX7 (1p36.13)
UBR4 (1p36.13) / UBR4 (1p36.13)UBR4 (1p36.13) / ZFP37 (9q32)USP15 (12q14.1) / UBR4 (1p36.13)
IFFO2 1p36.13 / UBR4 1p36.13UBR4 1p36.13 / HSPG2 1p36.12UBR4 1p36.13 / PAX7 1p36.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;9)(p36;q32) UBR4/ZFP37

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Lung: Translocations in Adenocarcinoma
CAPZB/UBR4 (1p36)
IFFO2/UBR4 (1p36)
UBR4/HSPG2 (1p36)
UBR4/PAX7 (1p36)
UBR4/ATP13A2 (1p36)
t(1;3)(p36;p22) UBR4/GLB1
t(1;19)(p36;p13) UBR4/KDM4B

External links

Nomenclature
HGNC (Hugo)UBR4   30313
Cards
Entrez_Gene (NCBI)UBR4  23352  ubiquitin protein ligase E3 component n-recognin 4
AliasesRBAF600; ZUBR1; p600
GeneCards (Weizmann)UBR4
Ensembl hg19 (Hinxton)ENSG00000127481 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127481 [Gene_View]  ENSG00000127481 [Sequence]  chr1:19074511-19210266 [Contig_View]  UBR4 [Vega]
ICGC DataPortalENSG00000127481
TCGA cBioPortalUBR4
AceView (NCBI)UBR4
Genatlas (Paris)UBR4
WikiGenes23352
SOURCE (Princeton)UBR4
Genetics Home Reference (NIH)UBR4
Genomic and cartography
GoldenPath hg38 (UCSC)UBR4  -     chr1:19074511-19210266 -  1p36.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBR4  -     1p36.13   [Description]    (hg19-Feb_2009)
GoldenPathUBR4 - 1p36.13 [CytoView hg19]  UBR4 - 1p36.13 [CytoView hg38]
Genome Data Viewer NCBIUBR4 [Mapview hg19]  
OMIM609890   
Gene and transcription
Genbank (Entrez)AA748129 AB007931 AB037728 AF055010 AF348492
RefSeq transcript (Entrez)NM_020765
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBR4
Alternative Splicing GalleryENSG00000127481
Gene ExpressionUBR4 [ NCBI-GEO ]   UBR4 [ EBI - ARRAY_EXPRESS ]   UBR4 [ SEEK ]   UBR4 [ MEM ]
Gene Expression Viewer (FireBrowse)UBR4 [ Firebrowse - Broad ]
GenevisibleExpression of UBR4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23352
GTEX Portal (Tissue expression)UBR4
Human Protein AtlasENSG00000127481-UBR4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T4S7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T4S7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T4S7
Splice isoforms : SwissVarQ5T4S7
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ5T4S7
Domaine pattern : Prosite (Expaxy)ZF_UBR (PS51157)   
Domains : Interpro (EBI)ARM-type_fold    E3_Ub_ligase_UBR4    WD40_repeat_dom_sf    Znf_UBR   
Domain families : Pfam (Sanger)E3_UbLigase_R4 (PF13764)    zf-UBR (PF02207)   
Domain families : Pfam (NCBI)pfam13764    pfam02207   
Domain families : Smart (EMBL)ZnF_UBR1 (SM00396)  
Conserved Domain (NCBI)UBR4
DMDM Disease mutations23352
SuperfamilyQ5T4S7
Human Protein Atlas [tissue]ENSG00000127481-UBR4 [tissue]
Peptide AtlasQ5T4S7
HPRD10184
IPIIPI00843999   IPI00746934   IPI00646605   IPI00640981   IPI00180305   IPI00386907   IPI01009566   IPI00445529   IPI00514902   IPI00942028   
Protein Interaction databases
DIP (DOE-UCLA)Q5T4S7
IntAct (EBI)Q5T4S7
FunCoupENSG00000127481
BioGRIDUBR4
STRING (EMBL)UBR4
ZODIACUBR4
Ontologies - Pathways
QuickGOQ5T4S7
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  calmodulin binding  nucleoplasm  nucleoplasm  centrosome  centrosome  cytosol  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  zinc ion binding  membrane  integral component of membrane  viral process  protein ubiquitination  specific granule membrane  neutrophil degranulation  ubiquitin protein ligase activity  tertiary granule membrane  ficolin-1-rich granule membrane  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  calmodulin binding  nucleoplasm  nucleoplasm  centrosome  centrosome  cytosol  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  zinc ion binding  membrane  integral component of membrane  viral process  protein ubiquitination  specific granule membrane  neutrophil degranulation  ubiquitin protein ligase activity  tertiary granule membrane  ficolin-1-rich granule membrane  
Pathways : KEGGViral carcinogenesis   
NDEx NetworkUBR4
Atlas of Cancer Signalling NetworkUBR4
Wikipedia pathwaysUBR4
Orthology - Evolution
OrthoDB23352
GeneTree (enSembl)ENSG00000127481
Phylogenetic Trees/Animal Genes : TreeFamUBR4
HOGENOMQ5T4S7
Homologs : HomoloGeneUBR4
Homology/Alignments : Family Browser (UCSC)UBR4
Gene fusions - Rearrangements
Fusion : MitelmanCAPZB/UBR4 [1p36.13/1p36.13]  
Fusion : MitelmanIFFO2/UBR4 [1p36.13/1p36.13]  
Fusion : MitelmanUBR4/ATP13A2 [1p36.13/1p36.13]  
Fusion : MitelmanUBR4/GLB1 [1p36.13/3p22.3]  
Fusion : MitelmanUBR4/HSPG2 [1p36.13/1p36.12]  
Fusion : MitelmanUBR4/KDM4B [1p36.13/19p13.3]  
Fusion : MitelmanUBR4/PAX7 [1p36.13/1p36.13]  
Fusion : MitelmanUBR4/ZFP37 [1p36.13/9q32]  
Fusion PortalIFFO2 1p36.13 UBR4 1p36.13 BLCA BRCA
Fusion PortalUBR4 1p36.13 HSPG2 1p36.12 BRCA
Fusion PortalUBR4 1p36.13 PAX7 1p36.13 LGG
Fusion : QuiverUBR4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBR4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBR4
dbVarUBR4
ClinVarUBR4
1000_GenomesUBR4 
Exome Variant ServerUBR4
GNOMAD BrowserENSG00000127481
Varsome BrowserUBR4
Genetic variants : HAPMAP23352
Genomic Variants (DGV)UBR4 [DGVbeta]
DECIPHERUBR4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBR4 
Mutations
ICGC Data PortalUBR4 
TCGA Data PortalUBR4 
Broad Tumor PortalUBR4
OASIS PortalUBR4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBR4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBR4
Mutations and Diseases : HGMDUBR4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect UBR4
DgiDB (Drug Gene Interaction Database)UBR4
DoCM (Curated mutations)UBR4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBR4 (select a term)
intoGenUBR4
Cancer3DUBR4 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609890   
Orphanet
DisGeNETUBR4
MedgenUBR4
Genetic Testing Registry UBR4
NextProtQ5T4S7 [Medical]
TSGene23352
GENETestsUBR4
Open Targets GeneticsENSG00000127481  [validation]
snp3D : Map Gene to Disease23352
BioCentury BCIQUBR4
ClinGenUBR4
Clinical trials, drugs, therapy
Protein Interactions : CTD23352
Pharm GKB GenePA162407958
Clinical trialUBR4
Miscellaneous
canSAR (ICR)UBR4 (select the gene name)
HarmonizomeUBR4
DataMed IndexUBR4
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBR4
EVEXUBR4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 11 20:17:39 CEST 2020
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