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EYA3 (EYA transcriptional coactivator and phosphatase 3)

Identity

HGNC (Hugo) EYA3
LocusID (NCBI) 2140
Atlas_Id 50951
Location 1p35.3
Location_base_pair Starts at 28303784 and ends at 28415148 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EYA3 (1p35.3) / POP4 (19q12)EYA3 (1p35.3) / SUSD6 (14q24.1)MECOM (3q26.2) / EYA3 (1p35.3)
EYA3 1p35.3 KIAA0247EYA3 1p35.3 / POP4 19q12

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(9;13)(p12;q21) PAX5/DACH1

External links

Nomenclature
HGNC (Hugo)EYA3   3521
Cards
Entrez_Gene (NCBI)EYA3  2140  EYA transcriptional coactivator and phosphatase 3
GeneCards (Weizmann)EYA3
Ensembl hg19 (Hinxton)ENSG00000158161 [Gene_View]  chr1:28303784-28415148 [Contig_View]  EYA3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158161 [Gene_View]  chr1:28303784-28415148 [Contig_View]  EYA3 [Vega]
ICGC DataPortalENSG00000158161
TCGA cBioPortalEYA3
AceView (NCBI)EYA3
Genatlas (Paris)EYA3
WikiGenes2140
SOURCE (Princeton)EYA3
Genomic and cartography
GoldenPath hg19 (UCSC)EYA3  -     chr1:28303784-28415148 -  1p35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EYA3  -     1p35.3   [Description]    (hg38-Dec_2013)
EnsemblEYA3 - 1p35.3 [CytoView hg19]  EYA3 - 1p35.3 [CytoView hg38]
Mapping of homologs : NCBIEYA3 [Mapview hg19]  EYA3 [Mapview hg38]
OMIM601655   
Gene and transcription
Genbank (Entrez)AJ007991 AK289805 AK295745 AK298129 AK303664
RefSeq transcript (Entrez)NM_001282560 NM_001282561 NM_001282562 NM_001990 NM_172098
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)EYA3
Cluster EST : UnigeneHs.185774 [ NCBI ]
CGAP (NCI)Hs.185774
Alternative Splicing GalleryENSG00000158161
Gene ExpressionEYA3 [ NCBI-GEO ]   EYA3 [ EBI - ARRAY_EXPRESS ]   EYA3 [ SEEK ]   EYA3 [ MEM ]
Gene Expression Viewer (FireBrowse)EYA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2140
GTEX Portal (Tissue expression)EYA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99504 (Uniprot)
NextProtQ99504  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99504
Splice isoforms : SwissVarQ99504 (Swissvar)
PhosPhoSitePlusQ99504
Domains : Interpro (EBI)EYA3    EYA_dom    EYA_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations2140
Blocks (Seattle)EYA3
SuperfamilyQ99504
Human Protein AtlasENSG00000158161
Peptide AtlasQ99504
HPRD09042
IPIIPI00015990   IPI00216103   IPI01013722   IPI01015164   IPI00238521   
Protein Interaction databases
DIP (DOE-UCLA)Q99504
IntAct (EBI)Q99504
FunCoupENSG00000158161
BioGRIDEYA3
STRING (EMBL)EYA3
ZODIACEYA3
Ontologies - Pathways
QuickGOQ99504
Ontology : AmiGOprotein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  centrosome  double-strand break repair  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  visual perception  anatomical structure morphogenesis  response to ionizing radiation  histone dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  
Ontology : EGO-EBIprotein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  centrosome  double-strand break repair  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  visual perception  anatomical structure morphogenesis  response to ionizing radiation  histone dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  
NDEx Network
Atlas of Cancer Signalling NetworkEYA3
Wikipedia pathwaysEYA3
Orthology - Evolution
OrthoDB2140
GeneTree (enSembl)ENSG00000158161
Phylogenetic Trees/Animal Genes : TreeFamEYA3
Homologs : HomoloGeneEYA3
Homology/Alignments : Family Browser (UCSC)EYA3
Gene fusions - Rearrangements
Fusion: TCGAEYA3 1p35.3 KIAA0247 BRCA
Fusion: TCGAEYA3 1p35.3 POP4 19q12 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerEYA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYA3
dbVarEYA3
ClinVarEYA3
1000_GenomesEYA3 
Exome Variant ServerEYA3
ExAC (Exome Aggregation Consortium)EYA3 (select the gene name)
Genetic variants : HAPMAP2140
Genomic Variants (DGV)EYA3 [DGVbeta]
Mutations
ICGC Data PortalEYA3 
TCGA Data PortalEYA3 
Broad Tumor PortalEYA3
OASIS PortalEYA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYA3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EYA3
DgiDB (Drug Gene Interaction Database)EYA3
DoCM (Curated mutations)EYA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EYA3 (select a term)
intoGenEYA3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:28303784-28415148  ENSG00000158161
CONAN: Copy Number AnalysisEYA3 
Mutations and Diseases : HGMDEYA3
OMIM601655   
MedgenEYA3
Genetic Testing Registry EYA3
NextProtQ99504 [Medical]
TSGene2140
GENETestsEYA3
Huge Navigator EYA3 [HugePedia]
snp3D : Map Gene to Disease2140
BioCentury BCIQEYA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2140
Chemical/Pharm GKB GenePA27933
Clinical trialEYA3
Miscellaneous
canSAR (ICR)EYA3 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEYA3
EVEXEYA3
GoPubMedEYA3
iHOPEYA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:45:31 CEST 2016

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