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 | 1,537 | 161 | 1,354 |
| Samples | 251 | 45 | 201 |
| Peptides | 262 | 37 | 223 |
Function
CASP1 · Caspase 1
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000533400 | P29466 | 286 | 201 |
| ENST00000436863 | P29466 | 233 | 178 |
| ENST00000525825 | P29466-2 | 229 | 174 |
| ENST00000527979 | G3V169* | 216 | 164 |
| ENST00000526568 | P29466-3 | 193 | 151 |
| ENST00000534497 | P29466-4 | 158 | 121 |
| ENST00000528974 | A0A8Q3WLD4* | 152 | 122 |
| ENST00000531166 | P29466-5 | 69 | 52 |
| ENST00000695717 | A0A8Q3SI00* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 201 amino-acid changes on canonical ENST00000533400 · 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 CASP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CASP1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 6/42 14% | 22/612 4% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Ewings Sarcoma | 1/63 2% | 4/262 2% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 6/810 1% |
| Melanoma | 1/210 0% | 21/1899 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 12/1390 1% |
| Colorectal Carcinoma | 6/143 4% | 23/3239 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 4/752 1% |
| Other Solid Cancers | 3/94 3% | 9/1515 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Wilms Tumour | 0/5 0% | 3/474 1% |
| Ovarian Carcinoma | 0/109 0% | 7/998 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Breast Carcinoma | 1/144 1% | 11/3264 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Hepatocellular Carcinoma | 2/46 4% | 5/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Prostate Carcinoma | 2/13 15% | 3/2105 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 4/2534 0% |
Mutation Distribution
Where CASP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CASP1 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 1,537 mutations in CASP1
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 |
|---|