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 | 539 | 77 | 430 |
| Samples | 268 | 53 | 207 |
| Peptides | 223 | 38 | 182 |
Function
APEH · Acylaminoacyl-peptide hydrolase
This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008].
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 215 amino-acid changes on canonical ENST00000296456 · 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 APEH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in APEH – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 15/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 5/210 2% | 33/1899 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Colorectal Carcinoma | 11/143 8% | 31/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 9/1390 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 13/2550 1% |
| Kidney Carcinoma | 1/85 1% | 10/1862 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 6/2534 0% |
| Neuroblastoma | 1/87 1% | 2/1331 0% |
Mutation Distribution
Where APEH is mutated · all tissues, split by cell line vs tissue
How many mutations in APEH 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 539 mutations in APEH
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 |
|---|