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: | CIC |
| Gene Name: | CIC |
| Protein Full Name: | Protein capicua homolog |
| Alias: | Capicua; Capicua homolog (Drosophila); KIAA0306 |
| Mass (Da): | 163820 |
| Number AA: | 1608 |
| UniProt ID: | Q96RK0 |
| Locus ID: | 23152 |
| COSMIC ID: | CIC |
| Gene location on chromosome: | 19q13.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT (possibly) |
| Number of cancer specimens: | 21025 |
| Percent of cancer specimens with mutations: | 2.02 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations , 2 insertions and 5 deletions across entire protein, but no complex mutations,. |
| Commonly recorded point mutations: | R215W (4) |
| Normal role description: | Transcriptional repressor important for normal brain development. Mediates EGFR signalling. Expression is significantly upregulated in CNS tumors but whether this is driving oncogenesis or an attempted salvage mechanism is unclear. |