Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EAF2 (ELL associated factor 2)

Identity

Alias_symbol (synonym)BM040
TRAITS
U19
Other alias
HGNC (Hugo) EAF2
LocusID (NCBI) 55840
Atlas_Id 45970
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 121835180 and ends at 121886526 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)
EAF2 (3q13.33) / RGS9 (17q24.1)EAF2 3q13.33 / RGS9 17q24.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;17)(q13;q24) EAF2/RGS9

External links

Nomenclature
HGNC (Hugo)EAF2   23115
Cards
Entrez_Gene (NCBI)EAF2  55840  ELL associated factor 2
AliasesBM040; TRAITS; U19
GeneCards (Weizmann)EAF2
Ensembl hg19 (Hinxton)ENSG00000145088 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145088 [Gene_View]  ENSG00000145088 [Sequence]  chr3:121835180-121886526 [Contig_View]  EAF2 [Vega]
ICGC DataPortalENSG00000145088
TCGA cBioPortalEAF2
AceView (NCBI)EAF2
Genatlas (Paris)EAF2
WikiGenes55840
SOURCE (Princeton)EAF2
Genetics Home Reference (NIH)EAF2
Genomic and cartography
GoldenPath hg38 (UCSC)EAF2  -     chr3:121835180-121886526 +  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EAF2  -     3q13.33   [Description]    (hg19-Feb_2009)
GoldenPathEAF2 - 3q13.33 [CytoView hg19]  EAF2 - 3q13.33 [CytoView hg38]
ImmunoBaseENSG00000145088
Mapping of homologs : NCBIEAF2 [Mapview hg19]  EAF2 [Mapview hg38]
OMIM607659   
Gene and transcription
Genbank (Entrez)AF217516 AF517829 AK301560 AY049020 BC014209
RefSeq transcript (Entrez)NM_001320041 NM_018456
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EAF2
Cluster EST : UnigeneHs.477325 [ NCBI ]
CGAP (NCI)Hs.477325
Alternative Splicing GalleryENSG00000145088
Gene ExpressionEAF2 [ NCBI-GEO ]   EAF2 [ EBI - ARRAY_EXPRESS ]   EAF2 [ SEEK ]   EAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)EAF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55840
GTEX Portal (Tissue expression)EAF2
Human Protein AtlasENSG00000145088-EAF2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CJ1
Splice isoforms : SwissVarQ96CJ1
PhosPhoSitePlusQ96CJ1
Domains : Interpro (EBI)EAF_fam    Tscrpt_elong_fac_Eaf_N   
Domain families : Pfam (Sanger)EAF (PF09816)   
Domain families : Pfam (NCBI)pfam09816   
Conserved Domain (NCBI)EAF2
DMDM Disease mutations55840
Blocks (Seattle)EAF2
SuperfamilyQ96CJ1
Human Protein Atlas [tissue]ENSG00000145088-EAF2 [tissue]
Peptide AtlasQ96CJ1
HPRD09634
IPIIPI00942345   IPI00642124   IPI00947283   IPI00093988   IPI00946455   
Protein Interaction databases
DIP (DOE-UCLA)Q96CJ1
IntAct (EBI)Q96CJ1
FunCoupENSG00000145088
BioGRIDEAF2
STRING (EMBL)EAF2
ZODIACEAF2
Ontologies - Pathways
QuickGOQ96CJ1
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  protein binding  nucleoplasm  transcription by RNA polymerase II  transcription elongation from RNA polymerase II promoter  apoptotic process  transcription elongation factor complex  nuclear speck  negative regulation of cell growth  ELL-EAF complex  positive regulation of transcription by RNA polymerase II  negative regulation of epithelial cell proliferation involved in prostate gland development  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  protein binding  nucleoplasm  transcription by RNA polymerase II  transcription elongation from RNA polymerase II promoter  apoptotic process  transcription elongation factor complex  nuclear speck  negative regulation of cell growth  ELL-EAF complex  positive regulation of transcription by RNA polymerase II  negative regulation of epithelial cell proliferation involved in prostate gland development  
NDEx NetworkEAF2
Atlas of Cancer Signalling NetworkEAF2
Wikipedia pathwaysEAF2
Orthology - Evolution
OrthoDB55840
GeneTree (enSembl)ENSG00000145088
Phylogenetic Trees/Animal Genes : TreeFamEAF2
HOGENOMQ96CJ1
Homologs : HomoloGeneEAF2
Homology/Alignments : Family Browser (UCSC)EAF2
Gene fusions - Rearrangements
Fusion : MitelmanEAF2/RGS9 [3q13.33/17q24.1]  
Fusion PortalEAF2 3q13.33 RGS9 17q24.1 BRCA
Fusion : QuiverEAF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EAF2
dbVarEAF2
ClinVarEAF2
1000_GenomesEAF2 
Exome Variant ServerEAF2
ExAC (Exome Aggregation Consortium)ENSG00000145088
GNOMAD BrowserENSG00000145088
Varsome BrowserEAF2
Genetic variants : HAPMAP55840
Genomic Variants (DGV)EAF2 [DGVbeta]
DECIPHEREAF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEAF2 
Mutations
ICGC Data PortalEAF2 
TCGA Data PortalEAF2 
Broad Tumor PortalEAF2
OASIS PortalEAF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEAF2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEAF2
Mutations and Diseases : HGMDEAF2
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 EAF2
DgiDB (Drug Gene Interaction Database)EAF2
DoCM (Curated mutations)EAF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EAF2 (select a term)
intoGenEAF2
Cancer3DEAF2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607659   
Orphanet
DisGeNETEAF2
MedgenEAF2
Genetic Testing Registry EAF2
NextProtQ96CJ1 [Medical]
TSGene55840
GENETestsEAF2
Target ValidationEAF2
Huge Navigator EAF2 [HugePedia]
snp3D : Map Gene to Disease55840
BioCentury BCIQEAF2
ClinGenEAF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55840
Chemical/Pharm GKB GenePA128394690
Clinical trialEAF2
Miscellaneous
canSAR (ICR)EAF2 (select the gene name)
DataMed IndexEAF2
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEAF2
EVEXEAF2
GoPubMedEAF2
iHOPEAF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Nov 13 17:41:21 CET 2019
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