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 | 2,600 | 238 | 2,331 |
| Samples | 545 | 82 | 453 |
| Peptides | 425 | 62 | 377 |
Function
CASP8 · Caspase 8
This gene encodes 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 composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
8 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 332 amino-acid changes on canonical ENST00000358485 · 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 CASP8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CASP8 – 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 | 5/40 12% | 0/0 0% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Head and Neck Carcinoma | 4/85 5% | 88/1574 6% |
| Endometrial Carcinoma | 9/42 21% | 27/612 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Cervical Carcinoma | 4/35 11% | 11/422 3% |
| Colorectal Carcinoma | 17/143 12% | 58/3239 2% |
| Burkitts Lymphoma | 4/32 12% | 1/196 1% |
| Other Solid Cancers | 2/94 2% | 33/1515 2% |
| Bladder Carcinoma | 0/58 0% | 19/956 2% |
| Gastric Carcinoma | 4/74 5% | 29/1809 2% |
| Melanoma | 5/210 2% | 27/1899 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 39/2550 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Ovarian Carcinoma | 0/109 0% | 12/998 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Breast Carcinoma | 0/144 0% | 25/3264 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Prostate Carcinoma | 0/13 0% | 10/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 8/88 9% | 4/2534 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
Mutation Distribution
Where CASP8 is mutated · all tissues, split by cell line vs tissue
How many mutations in CASP8 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 2,600 mutations in CASP8
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 |
|---|