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 | 1,955 | 196 | 1,734 |
| Samples | 365 | 65 | 294 |
| Peptides | 297 | 46 | 255 |
Function
ACHE · Acetylcholinesterase (Yt blood group)
Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019].
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 272 amino-acid changes on canonical ENST00000241069 · 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 ACHE · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACHE – 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 | 2/25 8% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 9/210 4% | 41/1899 2% |
| Endometrial Carcinoma | 5/42 12% | 9/612 1% |
| Colorectal Carcinoma | 15/143 10% | 44/3239 1% |
| Bladder Carcinoma | 1/58 2% | 16/956 2% |
| Gastric Carcinoma | 2/74 3% | 29/1809 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Neuroendocrine Tumour | 5/154 3% | 4/577 1% |
| Other Solid Cancers | 0/94 0% | 19/1515 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 11/1390 1% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Esophageal Carcinoma | 1/23 4% | 6/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Pancreatic Carcinoma | 0/89 0% | 10/1611 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Glioma | 0/52 0% | 11/2127 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
Mutation Distribution
Where ACHE is mutated · all tissues, split by cell line vs tissue
How many mutations in ACHE 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 1,955 mutations in ACHE
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 |
|---|