Overview

Location [1]
1p12
Protein [2]
Steroid Delta-isomerase
Synonyms [1]
SDR11E1, 3BETAHSD, HSDB3, HSDB3A, HSD3B

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1) is a gene that encodes a protein that functions in the biosynthesis of hormonal steroids. Missense mutations, synonymous mutations, and nonsense mutations are observed in cancers such as skin cancer, colon cancer, and lung cancer.

HSD3B1 is altered in 2.47% of all cancers with cutaneous melanoma, breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

HSD3B1 GENIE Cases - Top Diseases

The most common alterations in HSD3B1 are HSD3B1 Amplification (0.99%), HSD3B1 Y225delinsQC (0.65%), HSD3B1 E46K (0.07%), HSD3B1 G40R (0.10%), and HSD3B1 R21H (0.14%) [3].

HSD3B1 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.