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 | 1,546 | 251 | 1,286 |
| Samples | 1,209 | 204 | 996 |
| Peptides | 1,028 | 161 | 912 |
Function
COL4A4 · Collagen type IV alpha 4 chain
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000396625 | P53420 | 1,546 | 1,028 |
Gene Properties
Recurrent Mutations
All 1028 amino-acid changes on canonical ENST00000396625 · 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 COL4A4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL4A4 – 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 | 39/210 19% | 291/1899 15% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 43/612 7% |
| Other Solid Cancers | 10/94 11% | 92/1515 6% |
| Non-Small Cell Lung Carcinoma | 20/304 7% | 59/1390 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 34/810 4% |
| Colorectal Carcinoma | 16/143 11% | 104/3239 3% |
| Cervical Carcinoma | 7/35 20% | 7/422 2% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Gastric Carcinoma | 5/74 7% | 44/1809 2% |
| Other Sarcomas | 8/69 12% | 11/699 2% |
| Neuroendocrine Tumour | 10/154 6% | 8/577 1% |
| Head and Neck Carcinoma | 6/85 7% | 31/1574 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 21/956 2% |
| Germ Cell Tumour | 3/25 12% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 15/769 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Hepatocellular Carcinoma | 0/46 0% | 36/2210 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Ovarian Carcinoma | 6/109 6% | 11/998 1% |
| Rhabdomyosarcoma | 2/33 6% | 1/171 1% |
| Glioma | 4/52 8% | 23/2127 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 18/1592 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 28/2550 1% |
Mutation Distribution
Where COL4A4 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL4A4 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 1,546 mutations in COL4A4
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 |
|---|