Overview

Location [1]
2p21
Protein [2]
Endothelial PAS domain-containing protein 1
Synonyms [1]
bHLHe73, HIF2A, HLF, MOP2, ECYT4, PASD2

EPAS1 is altered in 1.02% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

EPAS1 GENIE Cases - Top Diseases

The most common alterations in EPAS1 are EPAS1 Amplification (0.07%), EPAS1 Loss (0.04%), EPAS1 S474T (0.02%), EPAS1 A506T (0.01%), and EPAS1 R181C (0.01%) [3].

EPAS1 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.