Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
9p13.2
Protein [2]
Paired box protein Pax-5
Synonyms [1]
BSAP, ALL3

Paired box 5 (PAX5) is a gene that encodes a transcription factor protein that is a member of the paired box family. The protein functions in transcriptional regulation during early development, neural development, spermatogenesis, and many other cellular processes. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as endometrial cancer, hematopoietic and lymphoid cancers, and intestinal cancer.

PAX5 is altered in 0.28% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, conventional glioblastoma multiforme, pancreatic adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

PAX5 GENIE Cases - Top Diseases

The most common alterations in PAX5 are PAX5 Loss (0.18%) and PAX5 Amplification (0.14%) [3].

PAX5 GENIE Cases - Top Alterations

Significance of PAX5 in Diseases

B-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

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 6. 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.