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 | 1,187 | 202 | 977 |
| Samples | 982 | 181 | 793 |
| Peptides | 816 | 129 | 709 |
Function
COL4A3 · Collagen type IV alpha 3 chain
Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000396578 | Q01955 | 1,187 | 816 |
Gene Properties
Recurrent Mutations
All 816 amino-acid changes on canonical ENST00000396578 · 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 COL4A3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL4A3 – 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 |
|---|---|---|
| Melanoma | 16/210 8% | 208/1899 11% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 16/42 38% | 33/612 5% |
| Rhabdomyosarcoma | 2/33 6% | 13/171 8% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 67/1515 4% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 28/810 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Bladder Carcinoma | 4/58 7% | 27/956 3% |
| Non-Small Cell Lung Carcinoma | 23/304 8% | 28/1390 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Colorectal Carcinoma | 24/143 17% | 59/3239 2% |
| Other Sarcomas | 4/69 6% | 13/699 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Gastric Carcinoma | 3/74 4% | 35/1809 2% |
| Cervical Carcinoma | 1/35 3% | 8/422 2% |
| Head and Neck Carcinoma | 3/85 4% | 29/1574 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Plasma Cell Myeloma | 0/44 0% | 6/305 2% |
| Neuroendocrine Tumour | 10/154 6% | 2/577 0% |
| Meningioma | 0/3 0% | 4/252 2% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Mesothelioma | 0/62 0% | 3/165 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 18/1592 1% |
| Ovarian Carcinoma | 5/109 5% | 8/998 1% |
| Glioma | 1/52 2% | 24/2127 1% |
Mutation Distribution
Where COL4A3 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL4A3 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 1,187 mutations in COL4A3
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 |
|---|