Biomarkers /

HIF1A

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Associated Diseases

Overview

Location [1]
14q23.2
Protein [2]
Hypoxia-inducible factor 1-alpha
Synonyms [1]
HIF-1alpha, bHLHe78, MOP1, HIF1, HIF1-ALPHA, HIF-1-alpha, HIF-1A, PASD8

HIF1A is altered in 0.68% of all cancers with conventional glioblastoma multiforme, skin squamous cell carcinoma, endometrial endometrioid adenocarcinoma, glioblastoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

HIF1A GENIE Cases - Top Diseases

The most common alterations in HIF1A are HIF1A Mutation (1.13%), HIF1A Loss (0.07%), HIF1A D249A (0.17%), HIF1A R165Q (0.13%), and HIF1A S687N (0.35%) [3].

HIF1A 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.