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 | 1,664 | 228 | 1,418 |
| Samples | 1,141 | 178 | 951 |
| Peptides | 932 | 124 | 827 |
Function
COL4A1 · Collagen type IV alpha 1 chain
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
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 926 amino-acid changes on canonical ENST00000375820 · 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 COL4A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL4A1 – 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% |
| Melanoma | 23/210 11% | 195/1899 10% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 36/612 6% |
| Non-Small Cell Lung Carcinoma | 27/304 9% | 69/1390 5% |
| Other Solid Cancers | 0/94 0% | 89/1515 6% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Colorectal Carcinoma | 25/143 17% | 121/3239 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 26/810 3% |
| Gastric Carcinoma | 4/74 5% | 60/1809 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 23/752 3% |
| Bladder Carcinoma | 3/58 5% | 23/956 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Plasma Cell Myeloma | 6/44 14% | 2/305 1% |
| Neuroendocrine Tumour | 10/154 6% | 6/577 1% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Ovarian Carcinoma | 7/109 6% | 16/998 2% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Hepatocellular Carcinoma | 1/46 2% | 43/2210 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Non-Cancerous | 2/104 2% | 15/830 2% |
| Mesothelioma | 4/62 6% | 0/165 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 27/1592 2% |
| Other Sarcomas | 4/69 6% | 8/699 1% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Head and Neck Carcinoma | 3/85 4% | 19/1574 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 28/2550 1% |
Mutation Distribution
Where COL4A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL4A1 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 1,664 mutations in COL4A1
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 |
|---|