Biomarkers /
JAZF1
Overview
JAZF zinc finger 1 (JAZF1) is a gene that encodes a nuclear protein that functions as a transcriptional repressor. Fusions, missense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
JAZF1 is altered in 0.22% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, low-grade endometrial stromal sarcoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in JAZF1 are JAZF1-SUZ12 Fusion (0.04%), JAZF1 Amplification (0.09%), JAZF1 D67Y (0.04%), JAZF1-PHF1 Fusion (0.03%), and JAZF1 A7S (0.03%) [3].
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.