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 | 1,018 | 124 | 890 |
| Samples | 282 | 52 | 226 |
| Peptides | 245 | 42 | 212 |
Function
TMPRSS3 · Transmembrane serine protease 3
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].
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.
Gene Properties
Recurrent Mutations
All 178 amino-acid changes on canonical ENST00000644384 · 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 TMPRSS3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TMPRSS3 – 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 | 8/40 20% | 0/0 0% |
| Melanoma | 2/210 1% | 51/1899 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Endometrial Carcinoma | 1/42 2% | 13/612 2% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 5/810 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 12/1390 1% |
| Plasma Cell Myeloma | 4/44 9% | 0/305 0% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Colorectal Carcinoma | 2/143 1% | 27/3239 1% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Other Solid Cancers | 3/94 3% | 10/1515 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Hepatocellular Carcinoma | 3/46 7% | 11/2210 0% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Head and Neck Carcinoma | 3/85 4% | 6/1574 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 6/2550 0% |
| Prostate Carcinoma | 1/13 8% | 4/2105 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
Mutation Distribution
Where TMPRSS3 is mutated · all tissues, split by cell line vs tissue
How many mutations in TMPRSS3 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 52 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 1,018 mutations in TMPRSS3
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 |
|---|