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 | 329 | 46 | 270 |
| Samples | 198 | 33 | 158 |
| Peptides | 176 | 20 | 146 |
Function
MBTPS2 · Membrane bound transcription factor peptidase, site 2
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].
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 170 amino-acid changes on canonical ENST00000379484 · 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 MBTPS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MBTPS2 – 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 | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 20/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 12/810 1% |
| Ovarian Carcinoma | 1/109 1% | 10/998 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 14/1390 1% |
| Colorectal Carcinoma | 5/143 4% | 21/3239 1% |
| Melanoma | 2/210 1% | 14/1899 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Other Solid Cancers | 0/94 0% | 7/1515 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Breast Carcinoma | 1/144 1% | 11/3264 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where MBTPS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MBTPS2 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 329 mutations in MBTPS2
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 |
|---|