Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | PAX7 |
Gene Name: | PAX7 |
Protein Full Name: | Paired box protein Pax-7 |
Alias: | HuP1 |
Mass (Da): | 56896 |
Number AA: | 520 |
UniProt ID: | P23759 |
Locus ID: | 5081 |
COSMIC ID: | PAX7 |
Gene location on chromosome: | 1p36.13 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 21216 |
Percent of cancer specimens with mutations: | 0.62 |
Deregulated in translocations: | t(1;13)(p36;q14) with FOXO1 |
Normal role description: | May have a role in myogenesis. Translocation cause rhabdomyosarcoma formation by inducing gene transcription. Unclear whether PAX7 or FOXO1 gene targets are transcribed by fusion protein. |