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 | 876 | 95 | 774 |
| Samples | 266 | 41 | 220 |
| Peptides | 250 | 33 | 215 |
Function
AIFM1 · Apoptosis inducing factor mitochondria associated 1
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].
Isoforms & Proteins
6 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 212 amino-acid changes on canonical ENST00000287295 · 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 AIFM1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AIFM1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 23/612 4% |
| Adrenocortical Carcinoma | 2/3 67% | 1/112 1% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 18/1390 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Ovarian Carcinoma | 3/109 3% | 11/998 1% |
| Colorectal Carcinoma | 5/143 4% | 33/3239 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Melanoma | 4/210 2% | 14/1899 1% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 18/2550 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Glioma | 0/52 0% | 10/2127 0% |
| Esophageal Carcinoma | 1/23 4% | 2/769 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Kidney Carcinoma | 1/85 1% | 5/1862 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
Mutation Distribution
Where AIFM1 is mutated · all tissues, split by cell line vs tissue
How many mutations in AIFM1 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 876 mutations in AIFM1
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 |
|---|