EYA1 Back

eyes absent homolog 1 (Drosophila)

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NCBI Description of EYA1
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. Four transcript variants encoding three distinct isoforms have been identified for this gene.

Community Annotation of EYA1 Add / Edit EYA1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

EYA1 is highly significantly mutated in
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EYA1 is significantly mutated in
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EYA1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for EYA1