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EYA1 (EYA transcriptional coactivator and phosphatase 1)

Identity

Other namesBOP
BOR
BOS1
OFC1
HGNC (Hugo) EYA1
LocusID (NCBI) 2138
Atlas_Id 50940
Location 8q13.3
Location_base_pair Starts at 72109668 and ends at 72274467 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EYA1 (8q13.3) / EYA1 (8q13.3)PVT1 (8q24.21) / EYA1 (8q13.3)

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) [ 1 ]
  t(9;13)(p12;q21) PAX5/DACH1

External links

Nomenclature
HGNC (Hugo)EYA1   3519
Cards
Entrez_Gene (NCBI)EYA1  2138  EYA transcriptional coactivator and phosphatase 1
GeneCards (Weizmann)EYA1
Ensembl hg19 (Hinxton)ENSG00000104313 [Gene_View]  chr8:72109668-72274467 [Contig_View]  EYA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104313 [Gene_View]  chr8:72109668-72274467 [Contig_View]  EYA1 [Vega]
ICGC DataPortalENSG00000104313
TCGA cBioPortalEYA1
AceView (NCBI)EYA1
Genatlas (Paris)EYA1
WikiGenes2138
SOURCE (Princeton)EYA1
Genomic and cartography
GoldenPath hg19 (UCSC)EYA1  -     chr8:72109668-72274467 -  8q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EYA1  -     8q13.3   [Description]    (hg38-Dec_2013)
EnsemblEYA1 - 8q13.3 [CytoView hg19]  EYA1 - 8q13.3 [CytoView hg38]
Mapping of homologs : NCBIEYA1 [Mapview hg19]  EYA1 [Mapview hg38]
OMIM113650   166780   601653   602588   
Gene and transcription
Genbank (Entrez)AF467247 AJ000097 AJ000098 AK127798 AK295897
RefSeq transcript (Entrez)NM_000503 NM_001288574 NM_001288575 NM_172058 NM_172059 NM_172060
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_011735 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)EYA1
Cluster EST : UnigeneHs.491997 [ NCBI ]
CGAP (NCI)Hs.491997
Alternative Splicing : Fast-db (Paris)GSHG0029642
Alternative Splicing GalleryENSG00000104313
Gene ExpressionEYA1 [ NCBI-GEO ]   EYA1 [ EBI - ARRAY_EXPRESS ]   EYA1 [ SEEK ]   EYA1 [ MEM ]
Gene Expression Viewer (FireBrowse)EYA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)2138
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99502 (Uniprot)
NextProtQ99502  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99502
Splice isoforms : SwissVarQ99502 (Swissvar)
PhosPhoSitePlusQ99502
Domains : Interpro (EBI)EYA_dom    EYA_fam    Eyes_absent_h1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations2138
Blocks (Seattle)EYA1
SuperfamilyQ99502
Human Protein AtlasENSG00000104313
Peptide AtlasQ99502
HPRD03388
IPIIPI00328572   IPI00940365   IPI00412606   IPI00291997   IPI00853331   IPI00853271   IPI00974497   IPI00974259   
Protein Interaction databases
DIP (DOE-UCLA)Q99502
IntAct (EBI)Q99502
FunCoupENSG00000104313
BioGRIDEYA1
STRING (EMBL)EYA1
ZODIACEYA1
Ontologies - Pathways
QuickGOQ99502
Ontology : AmiGOestablishment of mitotic spindle orientation  metanephros development  branching involved in ureteric bud morphogenesis  outflow tract morphogenesis  RNA binding  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair  transcription, DNA-templated  pattern specification process  mesodermal cell fate specification  sensory perception of sound  anatomical structure morphogenesis  response to ionizing radiation  striated muscle tissue development  histone dephosphorylation  protein sumoylation  protein-DNA complex  cellular protein localization  establishment or maintenance of apical/basal cell polarity  peptidyl-tyrosine dephosphorylation  aorta morphogenesis  outer ear morphogenesis  middle ear morphogenesis  protein complex  regulation of neuron differentiation  positive regulation of DNA repair  positive regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  neuron fate specification  embryonic skeletal system morphogenesis  semicircular canal morphogenesis  positive regulation of epithelial cell proliferation  pharyngeal system development  lung epithelial cell differentiation  otic vesicle morphogenesis  positive regulation of secondary heart field cardioblast proliferation  cochlea morphogenesis  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIestablishment of mitotic spindle orientation  metanephros development  branching involved in ureteric bud morphogenesis  outflow tract morphogenesis  RNA binding  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair  transcription, DNA-templated  pattern specification process  mesodermal cell fate specification  sensory perception of sound  anatomical structure morphogenesis  response to ionizing radiation  striated muscle tissue development  histone dephosphorylation  protein sumoylation  protein-DNA complex  cellular protein localization  establishment or maintenance of apical/basal cell polarity  peptidyl-tyrosine dephosphorylation  aorta morphogenesis  outer ear morphogenesis  middle ear morphogenesis  protein complex  regulation of neuron differentiation  positive regulation of DNA repair  positive regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  neuron fate specification  embryonic skeletal system morphogenesis  semicircular canal morphogenesis  positive regulation of epithelial cell proliferation  pharyngeal system development  lung epithelial cell differentiation  otic vesicle morphogenesis  positive regulation of secondary heart field cardioblast proliferation  cochlea morphogenesis  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx Network
Atlas of Cancer Signalling NetworkEYA1
Wikipedia pathwaysEYA1
Orthology - Evolution
OrthoDB2138
GeneTree (enSembl)ENSG00000104313
Phylogenetic Trees/Animal Genes : TreeFamEYA1
Homologs : HomoloGeneEYA1
Homology/Alignments : Family Browser (UCSC)EYA1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEYA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYA1
dbVarEYA1
ClinVarEYA1
1000_GenomesEYA1 
Exome Variant ServerEYA1
ExAC (Exome Aggregation Consortium)EYA1 (select the gene name)
SNP (GeneSNP Utah)EYA1
SNP : HGBaseEYA1
Genetic variants : HAPMAPEYA1
Genomic Variants (DGV)EYA1 [DGVbeta]
Mutations
ICGC Data PortalEYA1 
TCGA Data PortalEYA1 
Broad Tumor PortalEYA1
OASIS PortalEYA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYA1 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch EYA1
DgiDB (Drug Gene Interaction Database)EYA1
DoCM (Curated mutations)EYA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EYA1 (select a term)
intoGenEYA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:72109668-72274467
CONAN: Copy Number AnalysisEYA1 
Mutations and Diseases : HGMDEYA1
OMIM113650    166780    601653    602588   
MedgenEYA1
Genetic Testing Registry EYA1
NextProtQ99502 [Medical]
TSGene2138
GENETestsEYA1
Huge Navigator EYA1 [HugePedia]  EYA1 [HugeCancerGEM]
snp3D : Map Gene to Disease2138
BioCentury BCIQEYA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2138
Chemical/Pharm GKB GenePA27931
Clinical trialEYA1
Miscellaneous
canSAR (ICR)EYA1 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEYA1
GoPubMedEYA1
iHOPEYA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:44:11 CEST 2016

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