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 | 197 | 23 | 169 |
| Samples | 185 | 21 | 160 |
| Peptides | 132 | 20 | 110 |
Function
E2F4 · E2F transcription factor 4
The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000379378 | Q16254 | 197 | 132 |
Gene Properties
Recurrent Mutations
All 132 amino-acid changes on canonical ENST00000379378 · 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 E2F4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in E2F4 – 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 |
|---|---|---|
| Glioblastoma | 3/98 3% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 40/1515 3% |
| Endometrial Carcinoma | 4/42 10% | 10/612 2% |
| Melanoma | 0/210 0% | 23/1899 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Colorectal Carcinoma | 1/143 1% | 22/3239 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Glioma | 1/52 2% | 8/2127 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 6/1390 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Gastric Carcinoma | 1/74 1% | 6/1809 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 2/1592 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 0/752 0% |
| Prostate Carcinoma | 1/13 8% | 1/2105 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where E2F4 is mutated · all tissues, split by cell line vs tissue
How many mutations in E2F4 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 197 mutations in E2F4
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 |
|---|