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 | 781 | 160 | 597 |
| Samples | 703 | 135 | 547 |
| Peptides | 510 | 115 | 406 |
Function
COL6A1 · Collagen type VI alpha 1 chain
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000361866 | P12109 | 774 | 503 |
| ENST00000612273 | A0A087X0S5* | 7 | 7 |
Gene Properties
Recurrent Mutations
All 503 amino-acid changes on canonical ENST00000361866 · 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 COL6A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL6A1 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 29/612 5% |
| Hodgkins Lymphoma | 5/16 31% | 2/122 2% |
| Colorectal Carcinoma | 26/143 18% | 110/3239 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Melanoma | 7/210 3% | 48/1899 3% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 25/1390 2% |
| Burkitts Lymphoma | 1/32 3% | 4/196 2% |
| Neuroendocrine Tumour | 10/154 6% | 6/577 1% |
| Gastric Carcinoma | 1/74 1% | 39/1809 2% |
| Other Solid Cancers | 2/94 2% | 30/1515 2% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 34/2550 1% |
| Bladder Carcinoma | 2/58 3% | 12/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Hepatocellular Carcinoma | 2/46 4% | 26/2210 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Head and Neck Carcinoma | 2/85 2% | 15/1574 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Cancerous | 1/104 1% | 8/830 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Ovarian Carcinoma | 3/109 3% | 7/998 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Breast Carcinoma | 2/144 1% | 27/3264 1% |
Mutation Distribution
Where COL6A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL6A1 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 781 mutations in COL6A1
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 |
|---|