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 | 13,088 | 1,340 | 11,558 |
| Samples | 2,122 | 348 | 1,737 |
| Peptides | 1,907 | 255 | 1,702 |
Function
COL11A1 · Collagen type XI alpha 1 chain
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000370096 | P12107 | 2,607 | 1,756 |
| ENST00000358392 | P12107-2 | 2,420 | 1,733 |
| ENST00000353414 | P12107-3 | 2,342 | 1,680 |
| ENST00000512756 | P12107-4 | 2,232 | 1,604 |
| ENST00000461720 | A0A2R8YDU3* | 928 | 683 |
| ENST00000644186 | A0A2R8Y4I5* | 854 | 634 |
| ENST00000645458 | A0A2R8Y4M5* | 853 | 633 |
| ENST00000647280 | A0A2R8Y5N4* | 852 | 632 |
Gene Properties
Recurrent Mutations
All 1756 amino-acid changes on canonical ENST00000370096 · 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 COL11A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COL11A1 – 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 | 11/40 28% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 67/304 22% | 191/1390 14% |
| Melanoma | 37/210 18% | 260/1899 14% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 100/810 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 76/752 10% |
| Endometrial Carcinoma | 10/42 24% | 50/612 8% |
| Other Solid Cancers | 12/94 13% | 125/1515 8% |
| Neuroendocrine Tumour | 40/154 26% | 14/577 2% |
| Gastric Carcinoma | 6/74 8% | 119/1809 7% |
| Colorectal Carcinoma | 26/143 18% | 161/3239 5% |
| Hepatocellular Carcinoma | 7/46 15% | 112/2210 5% |
| Chordoma | 1/7 14% | 0/13 0% |
| Head and Neck Carcinoma | 9/85 11% | 67/1574 4% |
| Esophageal Carcinoma | 2/23 9% | 32/769 4% |
| Bladder Carcinoma | 2/58 3% | 39/956 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Cervical Carcinoma | 2/35 6% | 15/422 4% |
| Hodgkins Lymphoma | 2/16 12% | 3/122 2% |
| Ovarian Carcinoma | 13/109 12% | 26/998 3% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 84/2550 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Osteosarcoma | 6/45 13% | 0/166 0% |
| Biliary Tract Carcinoma | 2/54 4% | 21/950 2% |
| Non-Cancerous | 5/104 5% | 15/830 2% |
| Pancreatic Carcinoma | 4/89 4% | 27/1611 2% |
| Thyroid Gland Carcinoma | 5/45 11% | 24/1592 2% |
| Prostate Carcinoma | 3/13 23% | 33/2105 2% |
Mutation Distribution
Where COL11A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in COL11A1 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 53 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 13,088 mutations in COL11A1
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 |
|---|