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 | 340 | 69 | 268 |
| Samples | 296 | 67 | 226 |
| Peptides | 226 | 47 | 185 |
Function
MMP20 · Matrix metallopeptidase 20
Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011].
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 |
|---|---|---|---|
| ENST00000260228 | O60882 | 340 | 226 |
Gene Properties
Recurrent Mutations
All 226 amino-acid changes on canonical ENST00000260228 · 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 MMP20 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MMP20 – 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 | 3/40 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 9/810 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 18/1390 1% |
| Melanoma | 3/210 1% | 26/1899 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Other Solid Cancers | 1/94 1% | 19/1515 1% |
| Colorectal Carcinoma | 16/143 11% | 23/3239 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Pancreatic Carcinoma | 0/89 0% | 8/1611 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
Mutation Distribution
Where MMP20 is mutated · all tissues, split by cell line vs tissue
How many mutations in MMP20 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 6 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 340 mutations in MMP20
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 |
|---|