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 | 3,099 | 326 | 2,741 |
| Samples | 582 | 64 | 511 |
| Peptides | 421 | 55 | 380 |
Function
ACSM2A · Acyl-CoA synthetase medium chain family member 2A
This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017].
Isoforms & Proteins
5 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 411 amino-acid changes on canonical ENST00000573854 · 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 ACSM2A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACSM2A – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Melanoma | 9/210 4% | 98/1899 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 24/810 3% |
| Endometrial Carcinoma | 1/42 2% | 20/612 3% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 36/1390 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Other Solid Cancers | 0/94 0% | 40/1515 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Rhabdomyosarcoma | 1/33 3% | 3/171 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 34/1809 2% |
| Colorectal Carcinoma | 4/143 3% | 53/3239 2% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 35/2534 1% |
| Neuroendocrine Tumour | 5/154 3% | 3/577 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Ewings Sarcoma | 0/63 0% | 3/262 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Head and Neck Carcinoma | 0/85 0% | 14/1574 1% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 17/2550 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Other Blood Cancers | 1/61 2% | 16/2725 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
Mutation Distribution
Where ACSM2A is mutated · all tissues, split by cell line vs tissue
How many mutations in ACSM2A 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 40 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 3,099 mutations in ACSM2A
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 |
|---|