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 | 65 | 35 | 29 |
| Samples | 65 | 35 | 29 |
| Peptides | 52 | 29 | 22 |
Function
CASP12 · Caspase 12 (gene/pseudogene)
Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011].
Isoforms & Proteins
3 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 28 amino-acid changes on canonical ENST00000417998 · 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 CASP12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CASP12 – 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 |
|---|---|---|
| Unknown | 1/10 10% | 0/29 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 1/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 0/810 0% |
| Colorectal Carcinoma | 8/143 6% | 2/3239 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Melanoma | 1/210 0% | 1/1899 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where CASP12 is mutated · all tissues, split by cell line vs tissue
How many mutations in CASP12 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 65 mutations in CASP12
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 |
|---|