EPAS1 Back

endothelial PAS domain protein 1

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NCBI Description of EPAS1
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4.

Community Annotation of EPAS1 Add / Edit EPAS1: Annotations

No community annotations yet for EPAS1.
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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

EPAS1 is highly significantly mutated in
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EPAS1 is significantly mutated in
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EPAS1 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 EPAS1