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 | 363 | 46 | 308 |
| Samples | 181 | 30 | 147 |
| Peptides | 153 | 19 | 133 |
Function
FAS · Fas cell surface death receptor
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011].
Isoforms & Proteins
5 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 126 amino-acid changes on canonical ENST00000357339 · 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 FAS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FAS – 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% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Endometrial Carcinoma | 0/42 0% | 14/612 2% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Melanoma | 0/210 0% | 18/1899 1% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 19/2534 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Colorectal Carcinoma | 4/143 3% | 18/3239 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 16/2550 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Other Solid Cancers | 3/94 3% | 5/1515 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Head and Neck Carcinoma | 4/85 5% | 4/1574 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 6/1390 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Glioma | 0/52 0% | 2/2127 0% |
Mutation Distribution
Where FAS is mutated · all tissues, split by cell line vs tissue
How many mutations in FAS 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 363 mutations in FAS
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 |
|---|