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 | 518 | 88 | 423 |
| Samples | 299 | 60 | 234 |
| Peptides | 241 | 39 | 210 |
Function
CYP3A4 · Cytochrome P450 family 3 subfamily A member 4
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000336411 | A0A499FJM4* | 245 | 174 |
| ENST00000354593 | E7EVM8* | 202 | 150 |
| ENST00000651514 | P08684 | 71 | 60 |
Gene Properties
Recurrent Mutations
All 60 amino-acid changes on canonical ENST00000651514 · 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 CYP3A4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CYP3A4 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Melanoma | 4/210 2% | 79/1899 4% |
| Endometrial Carcinoma | 2/42 5% | 13/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 11/143 8% | 31/3239 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 10/1390 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Gastric Carcinoma | 3/74 4% | 13/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Hepatocellular Carcinoma | 2/46 4% | 8/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Glioma | 2/52 4% | 6/2127 0% |
| Breast Carcinoma | 2/144 1% | 10/3264 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 3/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 6/2550 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Pancreatic Carcinoma | 2/89 2% | 2/1611 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
Mutation Distribution
Where CYP3A4 is mutated · all tissues, split by cell line vs tissue
How many mutations in CYP3A4 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 518 mutations in CYP3A4
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 |
|---|