Location [1]
Protein [2]
Ubiquitin carboxyl-terminal hydrolase 6
Synonyms [1]
TRE17, HRP1, TRESMCR, TRE2, USP6-short, Tre-2

Ubiquitin specific peptidase 6 (USP6) is a gene that encodes a protein that functions as a deubiqutinase with ATP-independent isopeptidase activity that catalyzes its own deubiquitination. The protein promotes the plasma membrane localization of ARF6 and regulates ARF6-independent protein trafficking via endocytosis. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

USP6 is altered in 0.16% of all cancers with lung adenocarcinoma, squamous cell lung carcinoma, pancreatic adenocarcinoma, endometrial endometrioid adenocarcinoma, and appendix adenocarcinoma having the greatest prevalence of alterations [3].

USP6 GENIE Cases - Top Diseases

The most common alterations in USP6 are USP6 I67_R68delinsMW (9.33%), USP6 P108_V109delinsLL (0.52%), USP6 A1233T (0.30%), USP6 A991D (0.30%), and USP6 D1283N (0.30%) [3].

USP6 GENIE Cases - Top Alterations


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.