Overview

Location [1]
8q21.13
Protein [2]
Hairy/enhancer-of-split related with YRPW motif protein 1
Synonyms [1]
HRT-1, CHF2, OAF1, BHLHb31, NERP2, HERP2, HESR1, hHRT1

Hes-related family bHLH transcription factor with YRPW motif 1 (HEY1) is a gene that encodes a nuclear protein that functions as a transcriptional repressor. Fusions, missense mutations, nonsense mutations, silent mutations, nonstop extensions, and in-frame deletions are observed in cancers such as liver cancer, lung cancer, and skin cancer.

HEY1 is altered in 0.06% of all cancers with conventional glioblastoma multiforme, bladder urothelial carcinoma, lung adenocarcinoma, mesenchymal chondrosarcoma, and anaplastic astrocytoma having the greatest prevalence of alterations [3].

HEY1 GENIE Cases - Top Diseases

The most common alterations in HEY1 are HEY1-NCOA2 Fusion (0.02%), HEY1 A303T (0.07%), HEY1 A35P (0.07%), HEY1 F127Y (0.09%), and HEY1 G111D (0.09%) [3].

HEY1 GENIE Cases - Top Alterations

Significance of HEY1 in Diseases

Mesenchymal Chondrosarcoma +

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.