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 | 1,069 | 174 | 885 |
| Samples | 351 | 74 | 269 |
| Peptides | 289 | 60 | 237 |
Function
ACO1 · Aconitase 1
The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014].
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 289 amino-acid changes on canonical ENST00000309951 · 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 ACO1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACO1 – 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% |
| Endometrial Carcinoma | 5/42 12% | 23/612 4% |
| Cervical Carcinoma | 2/35 6% | 7/422 2% |
| Colorectal Carcinoma | 18/143 13% | 42/3239 1% |
| Melanoma | 2/210 1% | 34/1899 2% |
| Gastric Carcinoma | 0/74 0% | 24/1809 1% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Other Solid Cancers | 3/94 3% | 14/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Hepatocellular Carcinoma | 1/46 2% | 22/2210 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Non-Cancerous | 1/104 1% | 6/830 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 15/2550 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 5/1390 0% |
| Neuroendocrine Tumour | 1/154 1% | 4/577 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Esophageal Carcinoma | 1/23 4% | 3/769 0% |
| Biliary Tract Carcinoma | 2/54 4% | 3/950 0% |
| Breast Carcinoma | 6/144 4% | 9/3264 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 5/2534 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
Mutation Distribution
Where ACO1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ACO1 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 1,069 mutations in ACO1
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 |
|---|