Location [1]
Protein [2]
Paired box protein Pax-7
Synonyms [1]

Paired box 7 (PAX7) is a gene that encodes a transcription factor protein that functions myogenesis by regulating muscle precursor cell proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

PAX7 is altered in 0.16% of all cancers with conventional glioblastoma multiforme, alveolar rhabdomyosarcoma, basal cell carcinoma, colon adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PAX7 GENIE Cases - Top Diseases

The most common alterations in PAX7 are PAX7-FOXO1 Fusion (0.04%), PAX7 G412S (0.10%), PAX7 M375I (0.11%), PAX7 Q461* (0.13%), and PAX7 A15V (0.22%) [3].

PAX7 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.