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 | 30 | 17 | 0 |
| Samples | 25 | 17 | 0 |
| Peptides | 28 | 16 | 0 |
Function
TAFAZZIN · Tafazzin, phospholipid-lysophospholipid transacylase
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000601016 | Q16635-1 | 30 | 28 |
Gene Properties
Recurrent Mutations
All 29 amino-acid changes on canonical ENST00000601016 · 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 TAFAZZIN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TAFAZZIN – 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% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 3/143 2% | 3/3239 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Gastric Carcinoma | 2/74 3% | 1/1809 0% |
| Endometrial Carcinoma | 0/42 0% | 1/612 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 1/1390 0% |
| Head and Neck Carcinoma | 1/85 1% | 1/1574 0% |
| Bladder Carcinoma | 1/58 2% | 0/956 0% |
| Glioma | 1/52 2% | 0/2127 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where TAFAZZIN is mutated · all tissues, split by cell line vs tissue
How many mutations in TAFAZZIN 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.
Mutations
All 30 mutations in TAFAZZIN
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 |
|---|