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EYA4 (EYA transcriptional coactivator and phosphatase 4)

Identity

Alias_namesDFNA10
CMD1J
eyes absent (Drosophila) homolog 4
eyes absent homolog 4 (Drosophila)
Other alias
HGNC (Hugo) EYA4
LocusID (NCBI) 2070
Atlas_Id 51134
Location 6q23.2  [Link to chromosome band 6q23]
Location_base_pair Starts at 133241357 and ends at 133532120 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)
ADCY1 (7p12.3) / EYA4 (6q23.2)ADCY1 7p12.3 / EYA4 6q23.2

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(6;7)(q23;p12) ADCY1/EYA4

External links

Nomenclature
HGNC (Hugo)EYA4   3522
LRG (Locus Reference Genomic)LRG_418
Cards
Entrez_Gene (NCBI)EYA4  2070  EYA transcriptional coactivator and phosphatase 4
AliasesCMD1J; DFNA10
GeneCards (Weizmann)EYA4
Ensembl hg19 (Hinxton)ENSG00000112319 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112319 [Gene_View]  ENSG00000112319 [Sequence]  chr6:133241357-133532120 [Contig_View]  EYA4 [Vega]
ICGC DataPortalENSG00000112319
TCGA cBioPortalEYA4
AceView (NCBI)EYA4
Genatlas (Paris)EYA4
WikiGenes2070
SOURCE (Princeton)EYA4
Genetics Home Reference (NIH)EYA4
Genomic and cartography
GoldenPath hg38 (UCSC)EYA4  -     chr6:133241357-133532120 +  6q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EYA4  -     6q23.2   [Description]    (hg19-Feb_2009)
GoldenPathEYA4 - 6q23.2 [CytoView hg19]  EYA4 - 6q23.2 [CytoView hg38]
ImmunoBaseENSG00000112319
Mapping of homologs : NCBIEYA4 [Mapview hg19]  EYA4 [Mapview hg38]
OMIM601316   603550   605362   
Gene and transcription
Genbank (Entrez)AJ007993 AJ007994 AK295798 AK299378 AK301950
RefSeq transcript (Entrez)NM_001301012 NM_001301013 NM_001370458 NM_001370459 NM_004100 NM_172103 NM_172104 NM_172105
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EYA4
Cluster EST : UnigeneHs.596680 [ NCBI ]
CGAP (NCI)Hs.596680
Alternative Splicing GalleryENSG00000112319
Gene ExpressionEYA4 [ NCBI-GEO ]   EYA4 [ EBI - ARRAY_EXPRESS ]   EYA4 [ SEEK ]   EYA4 [ MEM ]
Gene Expression Viewer (FireBrowse)EYA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2070
GTEX Portal (Tissue expression)EYA4
Human Protein AtlasENSG00000112319-EYA4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95677   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95677  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95677
Splice isoforms : SwissVarO95677
PhosPhoSitePlusO95677
Domains : Interpro (EBI)EYA4    EYA_dom    EYA_dom_sf    EYA_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EYA4
DMDM Disease mutations2070
Blocks (Seattle)EYA4
SuperfamilyO95677
Human Protein Atlas [tissue]ENSG00000112319-EYA4 [tissue]
Peptide AtlasO95677
HPRD04648
IPIIPI00980204   IPI00219973   IPI00377184   IPI00300776   IPI00553024   IPI00980015   IPI00908921   IPI00974164   IPI00300775   
Protein Interaction databases
DIP (DOE-UCLA)O95677
IntAct (EBI)O95677
FunCoupENSG00000112319
BioGRIDEYA4
STRING (EMBL)EYA4
ZODIACEYA4
Ontologies - Pathways
QuickGOO95677
Ontology : AmiGOprotein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  DNA repair  multicellular organism development  visual perception  sensory perception of sound  anatomical structure morphogenesis  histone dephosphorylation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  anatomical structure development  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIprotein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  DNA repair  multicellular organism development  visual perception  sensory perception of sound  anatomical structure morphogenesis  histone dephosphorylation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  metal ion binding  anatomical structure development  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
NDEx NetworkEYA4
Atlas of Cancer Signalling NetworkEYA4
Wikipedia pathwaysEYA4
Orthology - Evolution
OrthoDB2070
GeneTree (enSembl)ENSG00000112319
Phylogenetic Trees/Animal Genes : TreeFamEYA4
HOGENOMO95677
Homologs : HomoloGeneEYA4
Homology/Alignments : Family Browser (UCSC)EYA4
Gene fusions - Rearrangements
Fusion : MitelmanADCY1/EYA4 [7p12.3/6q23.2]  [t(6;7)(q23;p12)]  
Fusion PortalADCY1 7p12.3 EYA4 6q23.2 BRCA
Fusion : QuiverEYA4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEYA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYA4
dbVarEYA4
ClinVarEYA4
1000_GenomesEYA4 
Exome Variant ServerEYA4
ExAC (Exome Aggregation Consortium)ENSG00000112319
GNOMAD BrowserENSG00000112319
Varsome BrowserEYA4
Genetic variants : HAPMAP2070
Genomic Variants (DGV)EYA4 [DGVbeta]
DECIPHEREYA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEYA4 
Mutations
ICGC Data PortalEYA4 
TCGA Data PortalEYA4 
Broad Tumor PortalEYA4
OASIS PortalEYA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYA4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEYA4
Mutations and Diseases : HGMDEYA4
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 EYA4
DgiDB (Drug Gene Interaction Database)EYA4
DoCM (Curated mutations)EYA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EYA4 (select a term)
intoGenEYA4
Cancer3DEYA4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601316    603550    605362   
Orphanet18879    12046   
DisGeNETEYA4
MedgenEYA4
Genetic Testing Registry EYA4
NextProtO95677 [Medical]
TSGene2070
GENETestsEYA4
Target ValidationEYA4
Huge Navigator EYA4 [HugePedia]
snp3D : Map Gene to Disease2070
BioCentury BCIQEYA4
ClinGenEYA4 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2070
Chemical/Pharm GKB GenePA27934
Clinical trialEYA4
Miscellaneous
canSAR (ICR)EYA4 (select the gene name)
DataMed IndexEYA4
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEYA4
EVEXEYA4
GoPubMedEYA4
iHOPEYA4
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 17:42:34 CET 2019
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