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 | 807 | 91 | 714 |
| Samples | 228 | 40 | 186 |
| Peptides | 200 | 32 | 174 |
Function
AMACR · Alpha-methylacyl-CoA racemase
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011].
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 149 amino-acid changes on canonical ENST00000335606 · 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 AMACR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AMACR – 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 | 2/40 5% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Endometrial Carcinoma | 6/42 14% | 10/612 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 17/1390 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 6/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Colorectal Carcinoma | 4/143 3% | 26/3239 1% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Wilms Tumour | 0/5 0% | 3/474 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Melanoma | 1/210 0% | 9/1899 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Glioma | 2/52 4% | 7/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 8/2550 0% |
| Esophageal Carcinoma | 1/23 4% | 2/769 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Breast Carcinoma | 0/144 0% | 10/3264 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where AMACR is mutated · all tissues, split by cell line vs tissue
How many mutations in AMACR 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 807 mutations in AMACR
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 |
|---|