Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 438 | 89 | 343 |
| Samples | 232 | 62 | 167 |
| Peptides | 168 | 40 | 133 |
Function
CGAS · Cyclic GMP-AMP synthase
Enables several functions, including 2',3'-cyclic GMP-AMP synthase activity; chromatin binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including cellular response to exogenous dsRNA; positive regulation of intracellular signal transduction; and regulation of defense response. Located in several cellular components, including cytosol; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 156 amino-acid changes on canonical ENST00000370315 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in CGAS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CGAS – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Endometrial Carcinoma | 7/42 17% | 9/612 1% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Cervical Carcinoma | 3/35 9% | 3/422 1% |
| Bladder Carcinoma | 3/58 5% | 10/956 1% |
| Colorectal Carcinoma | 10/143 7% | 31/3239 1% |
| Melanoma | 4/210 2% | 15/1899 1% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 4/1390 0% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Gastric Carcinoma | 1/74 1% | 13/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 2/2534 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 0/2640 0% |
Mutation Distribution
Where CGAS is mutated · all tissues, split by cell line vs tissue
How many mutations in CGAS were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
Mutations
All 438 mutations in CGAS
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|