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 .
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%) .
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.