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 | 282 | 47 | 231 |
| Samples | 158 | 33 | 123 |
| Peptides | 125 | 19 | 108 |
Function
DFFA · DNA fragmentation factor subunit alpha
Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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 116 amino-acid changes on canonical ENST00000377038 · 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 DFFA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DFFA – 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 | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Melanoma | 2/210 1% | 15/1899 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Gastric Carcinoma | 3/74 4% | 11/1809 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 11/2550 0% |
| Colorectal Carcinoma | 3/143 2% | 12/3239 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Biliary Tract Carcinoma | 3/54 6% | 0/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
Mutation Distribution
Where DFFA is mutated · all tissues, split by cell line vs tissue
How many mutations in DFFA 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 282 mutations in DFFA
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 |
|---|