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 | 2,963 | 433 | 2,499 |
| Samples | 904 | 192 | 700 |
| Peptides | 1,041 | 167 | 898 |
Function
COL11A2 · Collagen type XI alpha 2 chain
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000341947 | A0A0C4DFS1* | 1,037 | 769 |
| ENST00000374708 | Q4VXY6* | 890 | 698 |
| ENST00000551542 | P13942-8 | 438 | 332 |
| ENST00000383087 | P13942-6 | 236 | 199 |
| ENST00000549811 | P13942 | 184 | 141 |
| ENST00000395194 | P13942-9 | 150 | 115 |
| ENST00000361917 | H0YIS1* | 26 | 20 |
| ENST00000425729 | A0A140T9N1* | 1 | 1 |
| ENST00000443138 | A0A140T9I7* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 332 amino-acid changes on canonical ENST00000551542 · 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 COL11A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL11A2 – 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% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Melanoma | 22/210 10% | 142/1899 7% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 35/612 6% |
| Chordoma | 0/7 0% | 1/13 8% |
| Cervical Carcinoma | 5/35 14% | 16/422 4% |
| Other Solid Cancers | 4/94 4% | 68/1515 4% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 29/810 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 36/1390 3% |
| Colorectal Carcinoma | 23/143 16% | 72/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 21/752 3% |
| Neuroendocrine Tumour | 13/154 8% | 4/577 1% |
| Bladder Carcinoma | 3/58 5% | 20/956 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 35/1592 2% |
| Other Sarcomas | 4/69 6% | 11/699 2% |
| Gastric Carcinoma | 4/74 5% | 30/1809 2% |
| Hepatocellular Carcinoma | 4/46 9% | 35/2210 2% |
| Head and Neck Carcinoma | 7/85 8% | 21/1574 1% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Biliary Tract Carcinoma | 4/54 7% | 10/950 1% |
| Plasma Cell Myeloma | 0/44 0% | 4/305 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Ovarian Carcinoma | 2/109 2% | 10/998 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioma | 3/52 6% | 19/2127 1% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Neuroblastoma | 5/87 6% | 5/1331 0% |
Mutation Distribution
Where COL11A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL11A2 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 2,963 mutations in COL11A2
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 |
|---|