Overview

Location [1]
3p21.1
Protein [2]
Ubiquitin carboxyl-terminal hydrolase BAP1
Synonyms [1]
hucep-6, HUCEP-13, UCHL2

BRCA associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1) is a gene that encodes a protein that has a high affinity for the BRCA1 protein and functions as a tumor suppressor protein. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as biliary tract cancers, eye cancers, and pleura cancers.

BAP1 is altered in 2.55% of all cancers with renal cell carcinoma, malignant mesothelioma, breast carcinoma, non-small cell lung carcinoma, and melanoma having the greatest prevalence of alterations [3].

BAP1 GENIE Cases - Top Diseases

The most common alterations in BAP1 are BAP1 Mutation (2.20%), BAP1 Loss (0.26%), BAP1 Deletion (0.07%), BAP1 E198Rfs*33 (0.03%), and BAP1 C649Y (0.02%) [3].

BAP1 GENIE Cases - Top Alterations

Significance of BAP1 in Diseases

Malignant Solid Tumor +

Uveal Melanoma +

Malignant Mesothelioma +

Mesothelioma +

Clear Cell Renal Cell Carcinoma +

Cholangiocarcinoma +

Renal Cell Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.