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 | 1,306 | 169 | 1,136 |
| Samples | 203 | 41 | 161 |
| Peptides | 244 | 38 | 213 |
Function
MDM2 · MDM2 proto-oncogene
This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013].
Isoforms & Proteins
14 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 |
|---|---|---|---|
| ENST00000258149 | Q00987-11 | 219 | 161 |
| ENST00000539479 | Q00987 | 192 | 152 |
| ENST00000350057 | J3KN53* | 176 | 138 |
| ENST00000258148 | G3XA89* | 168 | 133 |
| ENST00000299252 | Q00987-5 | 121 | 96 |
| ENST00000360430 | Q00987-2 | 117 | 95 |
| ENST00000393410 | Q9H4C5* | 85 | 68 |
| ENST00000393412 | Q9H4C5* | 85 | 68 |
| ENST00000393413 | Q00987-4 | 82 | 67 |
| ENST00000517852 | Q9H4C3* | 35 | 31 |
| ENST00000544561 | F5GWH7* | 15 | 12 |
| ENST00000545204 | A0ACM8QN40* | 6 | 5 |
| ENST00000348801 | A0A0C4DFR5* | 4 | 4 |
| ENST00000478070 | E5RHE2* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 161 amino-acid changes on canonical ENST00000258149 · 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 MDM2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MDM2 – 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 | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Melanoma | 2/210 1% | 24/1899 1% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 18/1390 1% |
| Bladder Carcinoma | 2/58 3% | 9/956 1% |
| Colorectal Carcinoma | 12/143 8% | 14/3239 0% |
| Gastric Carcinoma | 2/74 3% | 9/1809 0% |
| Glioma | 1/52 2% | 11/2127 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Hepatocellular Carcinoma | 2/46 4% | 8/2210 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Breast Carcinoma | 1/144 1% | 10/3264 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
Mutation Distribution
Where MDM2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MDM2 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 1,306 mutations in MDM2
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 |
|---|