Gene Location [1]
Variant Type

BAP1 Loss is present in 0.28% of AACR GENIE cases, with pleural epithelioid mesothelioma, peritoneal mesothelioma, breast invasive ductal carcinoma, small cell lung carcinoma, and lung adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with BAP1 Loss

Significance of BAP1 Loss in Diseases

Malignant Solid Tumor +

Melanoma +

Malignant Mesothelioma +

Urothelial Carcinoma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

Small Cell Lung Carcinoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma +

Malignant Soft Tissue Neoplasm +

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

Lymphoma +

Renal Cell Carcinoma +

Pancreatic Adenocarcinoma +

Bladder Carcinoma +

Endometrial Carcinoma +

Ovarian Clear Cell Adenocarcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.