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 | 497 | 110 | 379 |
| Samples | 466 | 104 | 357 |
| Peptides | 367 | 68 | 302 |
Function
MBTPS1 · Membrane bound transcription factor peptidase, site 1
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014].
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 |
|---|---|---|---|
| ENST00000343411 | Q14703 | 497 | 367 |
Gene Properties
Recurrent Mutations
All 367 amino-acid changes on canonical ENST00000343411 · 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 MBTPS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MBTPS1 – 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% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 27/612 4% |
| Melanoma | 6/210 3% | 50/1899 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Colorectal Carcinoma | 23/143 16% | 56/3239 2% |
| Bladder Carcinoma | 0/58 0% | 16/956 2% |
| Other Sarcomas | 4/69 6% | 8/699 1% |
| Germ Cell Tumour | 3/25 12% | 0/169 0% |
| Gastric Carcinoma | 1/74 1% | 27/1809 1% |
| Rhabdomyosarcoma | 2/33 6% | 1/171 1% |
| Plasma Cell Myeloma | 4/44 9% | 1/305 0% |
| Other Solid Cancers | 4/94 4% | 19/1515 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 11/810 1% |
| Neuroendocrine Tumour | 9/154 6% | 1/577 0% |
| Ovarian Carcinoma | 6/109 6% | 8/998 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 11/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Head and Neck Carcinoma | 2/85 2% | 14/1574 1% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Non-Cancerous | 0/104 0% | 8/830 1% |
| Hepatocellular Carcinoma | 0/46 0% | 19/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Carcinoma | 1/23 4% | 3/769 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 6/1592 0% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
Mutation Distribution
Where MBTPS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MBTPS1 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 54 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 497 mutations in MBTPS1
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 |
|---|