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 | 2,333 | 336 | 1,967 |
| Samples | 931 | 166 | 752 |
| Peptides | 642 | 134 | 538 |
Function
COL6A2 · Collagen type VI alpha 2 chain
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 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 562 amino-acid changes on canonical ENST00000300527 · 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 COL6A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL6A2 – 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 | 12/40 30% | 0/0 0% |
| Chordoma | 3/7 43% | 1/13 8% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 36/612 6% |
| Melanoma | 10/210 5% | 96/1899 5% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 59/1390 4% |
| Colorectal Carcinoma | 21/143 15% | 139/3239 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Gastric Carcinoma | 4/74 5% | 65/1809 4% |
| Cervical Carcinoma | 1/35 3% | 11/422 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 19/810 2% |
| Other Solid Cancers | 0/94 0% | 37/1515 2% |
| Neuroendocrine Tumour | 11/154 7% | 5/577 1% |
| Small Cell Lung Carcinoma | 3/9 33% | 10/752 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 25/1592 2% |
| Pancreatic Carcinoma | 3/89 3% | 22/1611 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Head and Neck Carcinoma | 2/85 2% | 21/1574 1% |
| Glioma | 0/52 0% | 29/2127 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 29/2550 1% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Hepatocellular Carcinoma | 3/46 7% | 23/2210 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Ovarian Carcinoma | 5/109 5% | 6/998 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
Mutation Distribution
Where COL6A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL6A2 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 2,333 mutations in COL6A2
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 |
|---|