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 | 968 | 123 | 826 |
| Samples | 340 | 80 | 257 |
| Peptides | 279 | 55 | 221 |
Function
COL8A2 · Collagen type VIII alpha 2 chain
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014].
Isoforms & Proteins
3 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 277 amino-acid changes on canonical ENST00000397799 · 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 COL8A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL8A2 – 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% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 7/210 3% | 75/1899 4% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Other Solid Cancers | 4/94 4% | 20/1515 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Endometrial Carcinoma | 3/42 7% | 5/612 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 19/1592 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 10/1390 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Colorectal Carcinoma | 7/143 5% | 23/3239 1% |
| Gastric Carcinoma | 4/74 5% | 9/1809 0% |
| Bladder Carcinoma | 2/58 3% | 5/956 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Biliary Tract Carcinoma | 2/54 4% | 4/950 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Ovarian Carcinoma | 4/109 4% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 13/2550 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Glioma | 0/52 0% | 8/2127 0% |
Mutation Distribution
Where COL8A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL8A2 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 968 mutations in COL8A2
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 |
|---|