Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EYA1 (EYA transcriptional coactivator and phosphatase 1)

Identity

Other namesBOP
BOR
BOS1
OFC1
HGNC (Hugo) EYA1
LocusID (NCBI) 2138
Location 8q13.3
Location_base_pair Starts at 72109668 and ends at 72274467 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)EYA1   3519
Cards
Entrez_Gene (NCBI)EYA1  2138  EYA transcriptional coactivator and phosphatase 1
GeneCards (Weizmann)EYA1
Ensembl (Hinxton)ENSG00000104313 [Gene_View]  chr8:72109668-72274467 [Contig_View]  EYA1 [Vega]
ICGC DataPortalENSG00000104313
cBioPortalEYA1
AceView (NCBI)EYA1
Genatlas (Paris)EYA1
WikiGenes2138
SOURCE (Princeton)NM_000503 NM_001288574 NM_001288575 NM_172058 NM_172059 NM_172060
Genomic and cartography
GoldenPath (UCSC)EYA1  -  8q13.3   chr8:72109668-72274467 -  8q13.3   [Description]    (hg19-Feb_2009)
EnsemblEYA1 - 8q13.3 [CytoView]
Mapping of homologs : NCBIEYA1 [Mapview]
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)AC_000140 NC_000008 NC_018919 NG_011735 NT_008183 NW_001839132 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 [ SEEK ]   EYA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99502 (Uniprot)
NextProtQ99502  [Medical]
With graphics : InterProQ99502
Splice isoforms : SwissVarQ99502 (Swissvar)
Catalytic activity : Enzyme3.1.3.16 [ Enzyme-Expasy ]   3.1.3.163.1.3.16 [ IntEnz-EBI ]   3.1.3.16 [ BRENDA ]   3.1.3.16 [ KEGG ]   
Domains : Interpro (EBI)EYA_dom [organisation]   EYA_fam [organisation]   Eyes_absent_h1 [organisation]  
Related proteins : CluSTrQ99502
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations2138
Blocks (Seattle)Q99502
Human Protein AtlasENSG00000104313 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ99502
HPRD03388
IPIIPI00328572   IPI00940365   IPI00412606   IPI00291997   IPI00853331   IPI00853271   IPI00974497   IPI00974259   
Protein Interaction databases
DIP (DOE-UCLA)Q99502
IntAct (EBI)Q99502
FunCoupENSG00000104313
BioGRIDEYA1
InParanoidQ99502
Interologous Interaction database Q99502
IntegromeDBEYA1
STRING (EMBL)EYA1
Ontologies - Pathways
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  cytoplasm  double-strand break repair  transcription, DNA-templated  pattern specification process  sensory perception of sound  anatomical structure morphogenesis  response to ionizing radiation  striated muscle tissue development  histone dephosphorylation  protein sumoylation  cellular protein localization  establishment or maintenance of apical/basal cell polarity  peptidyl-tyrosine dephosphorylation  aorta morphogenesis  outer ear morphogenesis  middle ear morphogenesis  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  cytoplasm  double-strand break repair  transcription, DNA-templated  pattern specification process  sensory perception of sound  anatomical structure morphogenesis  response to ionizing radiation  striated muscle tissue development  histone dephosphorylation  protein sumoylation  cellular protein localization  establishment or maintenance of apical/basal cell polarity  peptidyl-tyrosine dephosphorylation  aorta morphogenesis  outer ear morphogenesis  middle ear morphogenesis  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   
Protein Interaction DatabaseEYA1
Wikipedia pathwaysEYA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EYA1
snp3D : Map Gene to Disease2138
SNP (GeneSNP Utah)EYA1
SNP : HGBaseEYA1
Genetic variants : HAPMAPEYA1
Exome VariantEYA1
1000_GenomesEYA1 
ICGC programENSG00000104313 
Somatic Mutations in Cancer : COSMICEYA1 
CONAN: Copy Number AnalysisEYA1 
Mutations and Diseases : HGMDEYA1
Mutations and Diseases : intOGenEYA1
Genomic VariantsEYA1  EYA1 [DGVbeta]
dbVarEYA1
ClinVarEYA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM113650    166780    601653    602588   
MedgenEYA1
GENETestsEYA1
Disease Genetic AssociationEYA1
Huge Navigator EYA1 [HugePedia]  EYA1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEYA1
Homology/Alignments : Family Browser (UCSC)EYA1
Phylogenetic Trees/Animal Genes : TreeFamEYA1
Chemical/Protein Interactions : CTD2138
Chemical/Pharm GKB GenePA27931
Clinical trialEYA1
Cancer Resource (Charite)ENSG00000104313
Other databases
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
CoreMineEYA1
iHOPEYA1
OncoSearchEYA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:50:20 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.