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 | 2,368 | 366 | 1,981 |
| Samples | 1,787 | 295 | 1,473 |
| Peptides | 1,554 | 246 | 1,379 |
Function
COL22A1 · Collagen type XXII alpha 1 chain
This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017].
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 |
|---|---|---|---|
| ENST00000303045 | Q8NFW1 | 2,368 | 1,554 |
Gene Properties
Recurrent Mutations
All 1554 amino-acid changes on canonical ENST00000303045 · 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 COL22A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL22A1 – 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 | 10/40 25% | 0/0 0% |
| Oral Cavity Carcinoma | 11/54 20% | 0/0 0% |
| Melanoma | 21/210 10% | 245/1899 13% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 95/810 12% |
| Non-Small Cell Lung Carcinoma | 58/304 19% | 126/1390 9% |
| Endometrial Carcinoma | 9/42 21% | 50/612 8% |
| Other Solid Cancers | 8/94 9% | 124/1515 8% |
| Small Cell Lung Carcinoma | 4/9 44% | 50/752 7% |
| Neuroendocrine Tumour | 35/154 23% | 8/577 1% |
| Colorectal Carcinoma | 31/143 22% | 162/3239 5% |
| Gastric Carcinoma | 3/74 4% | 96/1809 5% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Chordoma | 0/7 0% | 1/13 8% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Rhabdomyosarcoma | 0/33 0% | 9/171 5% |
| Head and Neck Carcinoma | 7/85 8% | 59/1574 4% |
| Bladder Carcinoma | 3/58 5% | 36/956 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Esophageal Carcinoma | 4/23 17% | 19/769 2% |
| Other Sarcomas | 7/69 10% | 15/699 2% |
| Hepatocellular Carcinoma | 2/46 4% | 61/2210 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Ovarian Carcinoma | 7/109 6% | 20/998 2% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 51/2550 2% |
| Non-Cancerous | 2/104 2% | 18/830 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Osteosarcoma | 1/45 2% | 3/166 2% |
| Glioma | 4/52 8% | 36/2127 2% |
| Burkitts Lymphoma | 2/32 6% | 2/196 1% |
Mutation Distribution
Where COL22A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL22A1 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 2,368 mutations in COL22A1
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 |
|---|