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 | 209 | 50 | 150 |
| Samples | 197 | 47 | 142 |
| Peptides | 158 | 34 | 126 |
Function
AFG1L · AFG1 like ATPase
This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016].
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 |
|---|---|---|---|
| ENST00000368977 | Q8WV93 | 209 | 158 |
Gene Properties
Recurrent Mutations
All 158 amino-acid changes on canonical ENST00000368977 · 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 AFG1L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AFG1L – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Unknown | 0/10 0% | 1/29 3% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Melanoma | 1/210 0% | 23/1899 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Colorectal Carcinoma | 9/143 6% | 16/3239 0% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Ovarian Carcinoma | 5/109 5% | 1/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 9/1574 1% |
| Gastric Carcinoma | 1/74 1% | 9/1809 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Glioma | 1/52 2% | 7/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Non-Cancerous | 2/104 2% | 0/830 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Other Blood Cancers | 3/61 5% | 2/2725 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
Mutation Distribution
Where AFG1L is mutated · all tissues, split by cell line vs tissue
How many mutations in AFG1L 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 209 mutations in AFG1L
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 |
|---|