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 | 421 | 53 | 362 |
| Samples | 157 | 24 | 130 |
| Peptides | 140 | 19 | 120 |
Function
TMEM30A · Cell cycle control protein 50A
Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:CDC50A flippase complex. ATP8A2:CDC50A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:CDC50A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Required for the formation of the ATP8A2, ATP8B1 and ATP8B2 P-type ATPAse intermediate phosphoenzymes. Involved in uptake of platelet-activating factor (PAF), synthetic drug alkylphospholipid edelfosine, and, probably in association with ATP8B1, of perifosine. Also mediates the export of alpha subunits ATP8A1, ATP8B1, ATP8B2, ATP8B4, ATP10A, ATP10B, ATP10D, ATP11A, ATP11B and ATP11C from the ER to other membrane localizations
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 132 amino-acid changes on canonical ENST00000230461 · 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 TMEM30A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TMEM30A – 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 | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 9/612 1% |
| Colorectal Carcinoma | 4/143 3% | 24/3239 1% |
| Melanoma | 0/210 0% | 17/1899 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Gastric Carcinoma | 2/74 3% | 8/1809 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 6/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Breast Carcinoma | 0/144 0% | 9/3264 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Other Blood Cancers | 2/61 3% | 1/2725 0% |
Mutation Distribution
Where TMEM30A is mutated · all tissues, split by cell line vs tissue
How many mutations in TMEM30A 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 421 mutations in TMEM30A
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 |
|---|