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 | 607 | 67 | 534 |
| Samples | 318 | 34 | 280 |
| Peptides | 266 | 34 | 235 |
Function
TMEM8A · Post-GPI attachment to proteins factor 6
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP CRIPTO, but not CFC1, at the cell surface. Shedding of CRIPTO modulates Nodal signaling by allowing soluble CRIPTO to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401)
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 259 amino-acid changes on canonical ENST00000431232 · 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 TMEM8A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TMEM8A – 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 |
|---|---|---|
| Chordoma | 2/7 29% | 0/13 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Endometrial Carcinoma | 2/42 5% | 15/612 2% |
| Melanoma | 3/210 1% | 41/1899 2% |
| Colorectal Carcinoma | 2/143 1% | 47/3239 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 23/1592 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 20/1390 1% |
| Burkitts Lymphoma | 0/32 0% | 3/196 2% |
| Gastric Carcinoma | 2/74 3% | 22/1809 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Hepatocellular Carcinoma | 2/46 4% | 9/2210 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 6/2534 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
Mutation Distribution
Where TMEM8A is mutated · all tissues, split by cell line vs tissue
How many mutations in TMEM8A 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 607 mutations in TMEM8A
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 |
|---|