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 | 2,287 | 356 | 1,899 |
| Samples | 753 | 160 | 582 |
| Peptides | 606 | 116 | 495 |
Function
ACE · Angiotensin I converting enzyme
This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000290866 | P12821 | 830 | 568 |
| ENST00000428043 | A0A0A0MSN4* | 698 | 500 |
| ENST00000290863 | P12821-3 | 392 | 291 |
| ENST00000413513 | P12821-4 | 367 | 277 |
Gene Properties
Recurrent Mutations
All 568 amino-acid changes on canonical ENST00000290866 · 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 ACE · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ACE – 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 | 9/40 22% | 0/0 0% |
| Endometrial Carcinoma | 15/42 36% | 31/612 5% |
| Melanoma | 9/210 4% | 104/1899 5% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 27/304 9% | 36/1390 3% |
| Mesothelioma | 7/62 11% | 1/165 1% |
| Colorectal Carcinoma | 17/143 12% | 70/3239 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Other Sarcomas | 5/69 7% | 9/699 1% |
| Neuroendocrine Tumour | 5/154 3% | 8/577 1% |
| Bladder Carcinoma | 0/58 0% | 18/956 2% |
| Plasma Cell Myeloma | 5/44 11% | 1/305 0% |
| Other Solid Cancers | 2/94 2% | 25/1515 2% |
| Thyroid Gland Carcinoma | 1/45 2% | 26/1592 2% |
| Glioma | 0/52 0% | 36/2127 2% |
| Gastric Carcinoma | 7/74 9% | 23/1809 1% |
| Biliary Tract Carcinoma | 0/54 0% | 16/950 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Ovarian Carcinoma | 6/109 6% | 9/998 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 9/810 1% |
| Meningioma | 0/3 0% | 3/252 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 27/2550 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Hepatocellular Carcinoma | 0/46 0% | 22/2210 1% |
Mutation Distribution
Where ACE is mutated · all tissues, split by cell line vs tissue
How many mutations in ACE 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 2,287 mutations in ACE
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 |
|---|