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Gene : EYA1 Homo sapiens

Name  ? EYA transcriptional coactivator and phosphatase 1 Cytological Location  8q13.3
Brief Description  EYA transcriptional coactivator and phosphatase 1
Description  This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
  • synonyms:
  • AJ000098,
  • BOR,
  • BOR,
  • EYA1,
  • OTTHUMG00000149894,
  • uc003xyu.3,
  • HGNC:3519,
  • NM_172060,
  • OFC1,
  • eyes absent homolog 1 (Drosophila),
  • BOS1,
  • BOP,
  • NM_000503,
  • eyes absent (Drosophila) homolog 1
  • identifiers:
  • 2138,
  • ENSG00000104313,
  • EYA1

Genome feature

Region: gene ? Length: 350672  
Location: 8:71197433-71548104 reverse strand Cyto location: 8q13.3

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results