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 | 920 | 156 | 754 |
| Samples | 220 | 53 | 165 |
| Peptides | 218 | 41 | 181 |
Function
MDM4 · MDM4 regulator of p53
This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011].
Isoforms & Proteins
9 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 |
|---|---|---|---|
| ENST00000367182 | O15151 | 230 | 165 |
| ENST00000454264 | O15151-5 | 179 | 132 |
| ENST00000614459 | A0A087WZ58* | 170 | 131 |
| ENST00000612738 | A0A087WTR9* | 104 | 81 |
| ENST00000367183 | O15151-4 | 61 | 46 |
| ENST00000391947 | Q68DC0* | 50 | 37 |
| ENST00000507825 | Q68DC0* | 50 | 37 |
| ENST00000367180 | Q5T0Y4* | 39 | 31 |
| ENST00000616250 | A0A087WUE3* | 37 | 29 |
Gene Properties
Recurrent Mutations
All 165 amino-acid changes on canonical ENST00000367182 · 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 MDM4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MDM4 – 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% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Ovarian Carcinoma | 1/109 1% | 11/998 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 8/1390 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 3/810 0% |
| Colorectal Carcinoma | 8/143 6% | 18/3239 1% |
| Gastric Carcinoma | 1/74 1% | 13/1809 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Melanoma | 0/210 0% | 13/1899 1% |
| Other Solid Cancers | 1/94 1% | 9/1515 1% |
| Glioma | 0/52 0% | 10/2127 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Head and Neck Carcinoma | 2/85 2% | 5/1574 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 5/2550 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroblastoma | 3/87 3% | 1/1331 0% |
| Hepatocellular Carcinoma | 1/46 2% | 5/2210 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 2/2534 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where MDM4 is mutated · all tissues, split by cell line vs tissue
How many mutations in MDM4 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 920 mutations in MDM4
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 |
|---|