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 | 732 | 84 | 645 |
| Samples | 296 | 53 | 241 |
| Peptides | 132 | 33 | 110 |
Function
TPSD1 · Tryptase delta 1
Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000211076 | Q9BZJ3 | 378 | 128 |
| ENST00000397534 | A0A0C4DFZ7* | 354 | 120 |
Gene Properties
Recurrent Mutations
All 128 amino-acid changes on canonical ENST00000211076 · 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 TPSD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TPSD1 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 35/1592 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 16/1390 1% |
| Bladder Carcinoma | 3/58 5% | 11/956 1% |
| Melanoma | 11/210 5% | 15/1899 1% |
| Endometrial Carcinoma | 2/42 5% | 5/612 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 4/810 0% |
| Colorectal Carcinoma | 6/143 4% | 24/3239 1% |
| Other Solid Cancers | 0/94 0% | 14/1515 1% |
| Other Sarcomas | 3/69 4% | 3/699 0% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Ovarian Carcinoma | 0/109 0% | 7/998 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Kidney Carcinoma | 1/85 1% | 6/1862 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Neuroblastoma | 1/87 1% | 3/1331 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Other Blood Cancers | 0/61 0% | 7/2725 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where TPSD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in TPSD1 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 732 mutations in TPSD1
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 |
|---|