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 | 1,222 | 201 | 1,003 |
| Samples | 251 | 58 | 188 |
| Peptides | 195 | 43 | 156 |
Function
CCM2 · CCM2 scaffold protein
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009].
Isoforms & Proteins
6 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 167 amino-acid changes on canonical ENST00000258781 · 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 CCM2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CCM2 – 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-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 6/42 14% | 13/612 2% |
| Melanoma | 3/210 1% | 26/1899 1% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 8/1390 1% |
| Colorectal Carcinoma | 9/143 6% | 26/3239 1% |
| Gastric Carcinoma | 0/74 0% | 17/1809 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Ovarian Carcinoma | 6/109 6% | 1/998 0% |
| Other Solid Cancers | 1/94 1% | 8/1515 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 7/1592 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 12/2550 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Kidney Carcinoma | 1/85 1% | 5/1862 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
Mutation Distribution
Where CCM2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CCM2 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.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,222 mutations in CCM2
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 |
|---|