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U2AF1 (U2 small nuclear RNA auxiliary factor 1)

Identity

Alias_namesU2AFBP
U2(RNU2) small nuclear RNA auxiliary factor binding protein
U2(RNU2) small nuclear RNA auxiliary factor 1
Alias_symbol (synonym)U2AF35
RNU2AF1
RN
HGNC (Hugo) U2AF1
LocusID (NCBI) 7307
Atlas_Id 45742
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 44513066 and ends at 44527688 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACTN4 (19q13.2) / U2AF1 (21q22.3)CRLF2 (Xp22.33) / U2AF1 (21q22.3)TFIP11 (22q12.1) / U2AF1 (21q22.3)
U2AF1 (21q22.3) / KLHL13 (Xq24)U2AF1 (21q22.3) / PTBP2 (1p21.3)

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) [ 2 ]
  Classification of myelodysplastic syndromes 2015
Chronic Myelomonocytic Leukemia (CMML)


External links

Nomenclature
HGNC (Hugo)U2AF1   12453
LRG (Locus Reference Genomic)LRG_615
Cards
Entrez_Gene (NCBI)U2AF1  7307  U2 small nuclear RNA auxiliary factor 1
AliasesFP793; RN; RNU2AF1; U2AF35; 
U2AFBP
GeneCards (Weizmann)U2AF1
Ensembl hg19 (Hinxton)ENSG00000160201 [Gene_View]  chr21:44513066-44527688 [Contig_View]  U2AF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160201 [Gene_View]  chr21:44513066-44527688 [Contig_View]  U2AF1 [Vega]
ICGC DataPortalENSG00000160201
TCGA cBioPortalU2AF1
AceView (NCBI)U2AF1
Genatlas (Paris)U2AF1
WikiGenes7307
SOURCE (Princeton)U2AF1
Genetics Home Reference (NIH)U2AF1
Genomic and cartography
GoldenPath hg19 (UCSC)U2AF1  -     chr21:44513066-44527688 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)U2AF1  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblU2AF1 - 21q22.3 [CytoView hg19]  U2AF1 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIU2AF1 [Mapview hg19]  U2AF1 [Mapview hg38]
OMIM191317   
Gene and transcription
Genbank (Entrez)AB451244 AF370386 AJ627978 AK022152 AK023589
RefSeq transcript (Entrez)NM_001025203 NM_001025204 NM_006758
RefSeq genomic (Entrez)NC_000021 NG_029455 NT_011512
Consensus coding sequences : CCDS (NCBI)U2AF1
Cluster EST : UnigeneHs.365116 [ NCBI ]
CGAP (NCI)Hs.365116
Alternative Splicing GalleryENSG00000160201
Gene ExpressionU2AF1 [ NCBI-GEO ]   U2AF1 [ EBI - ARRAY_EXPRESS ]   U2AF1 [ SEEK ]   U2AF1 [ MEM ]
Gene Expression Viewer (FireBrowse)U2AF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7307
GTEX Portal (Tissue expression)U2AF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01081   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01081  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01081
Splice isoforms : SwissVarQ01081
PhosPhoSitePlusQ01081
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_C3H1 (PS50103)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    U2_small    Znf_CCCH   
Domain families : Pfam (Sanger)zf-CCCH (PF00642)   
Domain families : Pfam (NCBI)pfam00642   
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_C3H1 (SM00356)  
Conserved Domain (NCBI)U2AF1
DMDM Disease mutations7307
Blocks (Seattle)U2AF1
PDB (SRS)1JMT   
PDB (PDBSum)1JMT   
PDB (IMB)1JMT   
PDB (RSDB)1JMT   
Structural Biology KnowledgeBase1JMT   
SCOP (Structural Classification of Proteins)1JMT   
CATH (Classification of proteins structures)1JMT   
SuperfamilyQ01081
Human Protein AtlasENSG00000160201
Peptide AtlasQ01081
HPRD01871
IPIIPI00005613   IPI00917123   IPI00619914   IPI00946935   IPI00619942   
Protein Interaction databases
DIP (DOE-UCLA)Q01081
IntAct (EBI)Q01081
FunCoupENSG00000160201
BioGRIDU2AF1
STRING (EMBL)U2AF1
ZODIACU2AF1
Ontologies - Pathways
QuickGOQ01081
Ontology : AmiGOnucleotide binding  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein binding  nucleoplasm  nucleoplasm  spliceosomal complex  termination of RNA polymerase II transcription  mRNA processing  RNA export from nucleus  mRNA export from nucleus  RNA splicing  Cajal body  nuclear speck  mRNA 3'-end processing  poly(A) RNA binding  metal ion binding  catalytic step 2 spliceosome  U2AF  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBInucleotide binding  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein binding  nucleoplasm  nucleoplasm  spliceosomal complex  termination of RNA polymerase II transcription  mRNA processing  RNA export from nucleus  mRNA export from nucleus  RNA splicing  Cajal body  nuclear speck  mRNA 3'-end processing  poly(A) RNA binding  metal ion binding  catalytic step 2 spliceosome  U2AF  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  
Pathways : BIOCARTASpliceosomal Assembly [Genes]   
Pathways : KEGGSpliceosome    Shigellosis   
NDEx NetworkU2AF1
Atlas of Cancer Signalling NetworkU2AF1
Wikipedia pathwaysU2AF1
Orthology - Evolution
OrthoDB7307
GeneTree (enSembl)ENSG00000160201
Phylogenetic Trees/Animal Genes : TreeFamU2AF1
HOVERGENQ01081
HOGENOMQ01081
Homologs : HomoloGeneU2AF1
Homology/Alignments : Family Browser (UCSC)U2AF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerU2AF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)U2AF1
dbVarU2AF1
ClinVarU2AF1
1000_GenomesU2AF1 
Exome Variant ServerU2AF1
ExAC (Exome Aggregation Consortium)U2AF1 (select the gene name)
Genetic variants : HAPMAP7307
Genomic Variants (DGV)U2AF1 [DGVbeta]
DECIPHER (Syndromes)21:44513066-44527688  ENSG00000160201
CONAN: Copy Number AnalysisU2AF1 
Mutations
ICGC Data PortalU2AF1 
TCGA Data PortalU2AF1 
Broad Tumor PortalU2AF1
OASIS PortalU2AF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusU2AF1 
Somatic Mutations in Cancer : COSMICU2AF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDU2AF1
intOGen PortalU2AF1
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
BioMutasearch U2AF1
DgiDB (Drug Gene Interaction Database)U2AF1
DoCM (Curated mutations)U2AF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)U2AF1 (select a term)
intoGenU2AF1
Cancer3DU2AF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191317   
Orphanet
MedgenU2AF1
Genetic Testing Registry U2AF1
NextProtQ01081 [Medical]
TSGene7307
GENETestsU2AF1
Huge Navigator U2AF1 [HugePedia]
snp3D : Map Gene to Disease7307
BioCentury BCIQU2AF1
ClinGenU2AF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7307
Chemical/Pharm GKB GenePA37103
Clinical trialU2AF1
Miscellaneous
canSAR (ICR)U2AF1 (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineU2AF1
EVEXU2AF1
GoPubMedU2AF1
iHOPU2AF1
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 : Fri Nov 18 19:54:58 CET 2016

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