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 | 4,752 | 494 | 4,228 |
| Samples | 893 | 152 | 734 |
| Peptides | 825 | 109 | 731 |
Function
COL4A6 · Collagen type IV alpha 6 chain
This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000334504 | Q14031-2 | 1,062 | 781 |
| ENST00000372216 | Q14031 | 944 | 731 |
| ENST00000394872 | A8MXH5* | 926 | 719 |
| ENST00000621266 | A0A087WZY5* | 917 | 712 |
| ENST00000538570 | F5H3Q5* | 903 | 699 |
Gene Properties
Recurrent Mutations
All 781 amino-acid changes on canonical ENST00000334504 · 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 COL4A6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL4A6 – 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 | 4/40 10% | 0/0 0% |
| Melanoma | 14/210 7% | 166/1899 9% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 40/612 7% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 54/1390 4% |
| Hodgkins Lymphoma | 2/16 12% | 4/122 3% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Cervical Carcinoma | 4/35 11% | 13/422 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 20/810 2% |
| Other Solid Cancers | 2/94 2% | 44/1515 3% |
| Colorectal Carcinoma | 16/143 11% | 77/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 20/752 3% |
| Gastric Carcinoma | 5/74 7% | 42/1809 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Ovarian Carcinoma | 7/109 6% | 17/998 2% |
| Bladder Carcinoma | 2/58 3% | 19/956 2% |
| Neuroendocrine Tumour | 7/154 5% | 6/577 1% |
| Other Sarcomas | 4/69 6% | 9/699 1% |
| Biliary Tract Carcinoma | 0/54 0% | 13/950 1% |
| Non-Cancerous | 3/104 3% | 8/830 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Hepatocellular Carcinoma | 4/46 9% | 19/2210 1% |
| Esophageal Carcinoma | 1/23 4% | 7/769 1% |
| Glioma | 1/52 2% | 21/2127 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 16/1592 1% |
| Breast Carcinoma | 2/144 1% | 31/3264 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Prostate Carcinoma | 3/13 23% | 17/2105 1% |
Mutation Distribution
Where COL4A6 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL4A6 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 4,752 mutations in COL4A6
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 |
|---|