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 | 943 | 252 | 660 |
| Samples | 189 | 72 | 116 |
| Peptides | 174 | 46 | 132 |
Function
ACY1 · Aminoacylase 1
This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010].
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 145 amino-acid changes on canonical ENST00000636358 · 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 ACY1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACY1 – 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 | 6/40 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 12/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Melanoma | 3/210 1% | 17/1899 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Ovarian Carcinoma | 7/109 6% | 2/998 0% |
| Colorectal Carcinoma | 8/143 6% | 19/3239 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 3/1390 0% |
| Bladder Carcinoma | 2/58 3% | 3/956 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Gastric Carcinoma | 2/74 3% | 6/1809 0% |
| Prostate Carcinoma | 4/13 31% | 4/2105 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Neuroblastoma | 2/87 2% | 2/1331 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 5/144 3% | 3/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 4/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 4/2550 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
Mutation Distribution
Where ACY1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ACY1 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 943 mutations in ACY1
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 |
|---|