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 | 571 | 92 | 473 |
| Samples | 237 | 40 | 194 |
| Peptides | 189 | 25 | 171 |
Function
CYP21A2 · Cytochrome P450 family 21 subfamily A member 2
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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.
Gene Properties
Recurrent Mutations
All 157 amino-acid changes on canonical ENST00000644719 · 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 CYP21A2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CYP21A2 – 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% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 16/612 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 2/210 1% | 30/1899 2% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 7/1390 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 18/1592 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Colorectal Carcinoma | 1/143 1% | 19/3239 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Prostate Carcinoma | 0/13 0% | 11/2105 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 8/2550 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| Other Blood Cancers | 0/61 0% | 6/2725 0% |
| Hepatocellular Carcinoma | 1/46 2% | 4/2210 0% |
Mutation Distribution
Where CYP21A2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CYP21A2 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 571 mutations in CYP21A2
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 |
|---|