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EYA3 (EYA transcriptional coactivator and phosphatase 3)

Identity

Alias_nameseyes absent (Drosophila) homolog 3
eyes absent homolog 3 (Drosophila)
Alias_symbol (synonym)DKFZp686C132
Other alias-
HGNC (Hugo) EYA3
LocusID (NCBI) 2140
Atlas_Id 50951
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 27977273 and ends at 28088637 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)
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) [ 2 ]
  t(6;9)(p22;q34) DEK/NUP214 in Childhood
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
Aliases
GeneCards (Weizmann)EYA3
Ensembl hg19 (Hinxton)ENSG00000158161 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158161 [Gene_View]  chr1:27977273-28088637 [Contig_View]  EYA3 [Vega]
ICGC DataPortalENSG00000158161
TCGA cBioPortalEYA3
AceView (NCBI)EYA3
Genatlas (Paris)EYA3
WikiGenes2140
SOURCE (Princeton)EYA3
Genetics Home Reference (NIH)EYA3
Genomic and cartography
GoldenPath hg38 (UCSC)EYA3  -     chr1:27977273-28088637 -  1p35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EYA3  -     1p35.3   [Description]    (hg19-Feb_2009)
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2140
GTEX Portal (Tissue expression)EYA3
Human Protein AtlasENSG00000158161-EYA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99504   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99504  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99504
Splice isoforms : SwissVarQ99504
PhosPhoSitePlusQ99504
Domains : Interpro (EBI)EYA3    EYA_dom    EYA_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EYA3
DMDM Disease mutations2140
Blocks (Seattle)EYA3
SuperfamilyQ99504
Human Protein Atlas [tissue]ENSG00000158161-EYA3 [tissue]
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  cell differentiation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
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  cell differentiation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
NDEx NetworkEYA3
Atlas of Cancer Signalling NetworkEYA3
Wikipedia pathwaysEYA3
Orthology - Evolution
OrthoDB2140
GeneTree (enSembl)ENSG00000158161
Phylogenetic Trees/Animal Genes : TreeFamEYA3
HOVERGENQ99504
HOGENOMQ99504
Homologs : HomoloGeneEYA3
Homology/Alignments : Family Browser (UCSC)EYA3
Gene fusions - Rearrangements
Fusion : MitelmanEYA3/POP4 [1p35.3/19q12]  
Fusion : MitelmanEYA3/SUSD6 [1p35.3/14q24.1]  [t(1;14)(p35;q24)]  
Fusion: TCGAEYA3 1p35.3 KIAA0247 BRCA
Fusion: TCGAEYA3 1p35.3 POP4 19q12 BRCA
Fusion: Tumor Portal EYA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEYA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYA3
dbVarEYA3
ClinVarEYA3
1000_GenomesEYA3 
Exome Variant ServerEYA3
ExAC (Exome Aggregation Consortium)ENSG00000158161
GNOMAD BrowserENSG00000158161
Genetic variants : HAPMAP2140
Genomic Variants (DGV)EYA3 [DGVbeta]
DECIPHEREYA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEYA3 
Mutations
ICGC Data PortalEYA3 
TCGA Data PortalEYA3 
Broad Tumor PortalEYA3
OASIS PortalEYA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEYA3
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
Cancer3DEYA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601655   
Orphanet
MedgenEYA3
Genetic Testing Registry EYA3
NextProtQ99504 [Medical]
TSGene2140
GENETestsEYA3
Target ValidationEYA3
Huge Navigator EYA3 [HugePedia]
snp3D : Map Gene to Disease2140
BioCentury BCIQEYA3
ClinGenEYA3
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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:49:15 CET 2017

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