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 | 667 | 100 | 560 |
| Samples | 343 | 66 | 272 |
| Peptides | 265 | 43 | 227 |
Function
MMP13 · Matrix metallopeptidase 13
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016].
Isoforms & Proteins
2 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 250 amino-acid changes on canonical ENST00000260302 · 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 MMP13 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MMP13 – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 19/612 3% |
| Melanoma | 6/210 3% | 63/1899 3% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 21/1390 2% |
| Plasma Cell Myeloma | 4/44 9% | 1/305 0% |
| Colorectal Carcinoma | 4/143 3% | 37/3239 1% |
| Other Solid Cancers | 1/94 1% | 17/1515 1% |
| Neuroendocrine Tumour | 5/154 3% | 3/577 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Glioma | 2/52 4% | 11/2127 1% |
| Breast Carcinoma | 2/144 1% | 18/3264 1% |
| Head and Neck Carcinoma | 0/85 0% | 9/1574 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Hepatocellular Carcinoma | 1/46 2% | 10/2210 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Meningioma | 0/3 0% | 1/252 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 5/2550 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
Mutation Distribution
Where MMP13 is mutated · all tissues, split by cell line vs tissue
How many mutations in MMP13 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 13 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 667 mutations in MMP13
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 |
|---|