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 | 1,749 | 303 | 1,413 |
| Samples | 1,468 | 249 | 1,194 |
| Peptides | 1,121 | 196 | 971 |
Function
COL5A1 · Collagen type V alpha 1 chain
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].
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 1119 amino-acid changes on canonical ENST00000371817 · 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 COL5A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL5A1 – 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 | 6/40 15% | 0/0 0% |
| Melanoma | 39/210 19% | 265/1899 14% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 51/612 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Colorectal Carcinoma | 26/143 18% | 187/3239 6% |
| Non-Small Cell Lung Carcinoma | 36/304 12% | 70/1390 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 94/1809 5% |
| Other Solid Cancers | 9/94 10% | 59/1515 4% |
| Hodgkins Lymphoma | 1/16 6% | 4/122 3% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 29/810 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Cervical Carcinoma | 1/35 3% | 13/422 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Bladder Carcinoma | 6/58 10% | 20/956 2% |
| Hepatocellular Carcinoma | 2/46 4% | 54/2210 2% |
| Rhabdomyosarcoma | 2/33 6% | 3/171 2% |
| Head and Neck Carcinoma | 5/85 6% | 35/1574 2% |
| Esophageal Carcinoma | 2/23 9% | 17/769 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Esophageal Squamous Cell Carcinoma | 10/51 20% | 51/2550 2% |
| Other Sarcomas | 7/69 10% | 10/699 1% |
| Non-Cancerous | 2/104 2% | 17/830 2% |
| Biliary Tract Carcinoma | 1/54 2% | 19/950 2% |
| Ovarian Carcinoma | 8/109 7% | 14/998 1% |
| Pancreatic Carcinoma | 5/89 6% | 25/1611 2% |
| Neuroendocrine Tumour | 7/154 5% | 5/577 1% |
| Glioma | 3/52 6% | 32/2127 2% |
| Thyroid Gland Carcinoma | 1/45 2% | 23/1592 1% |
Mutation Distribution
Where COL5A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL5A1 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 1,749 mutations in COL5A1
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 |
|---|