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 | 4,916 | 522 | 4,313 |
| Samples | 450 | 80 | 364 |
| Peptides | 436 | 70 | 370 |
Function
UBE3A · Ubiquitin protein ligase E3A
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
13 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 |
|---|---|---|---|
| ENST00000648336 | Q05086-3 | 547 | 401 |
| ENST00000637886 | Q05086-3 | 450 | 346 |
| ENST00000650110 | Q05086 | 445 | 337 |
| ENST00000428984 | Q05086-2 | 439 | 336 |
| ENST00000438097 | Q05086-2 | 439 | 336 |
| ENST00000566215 | Q05086-2 | 439 | 336 |
| ENST00000630424 | Q05086-2 | 439 | 336 |
| ENST00000638011 | Q05086-2 | 439 | 336 |
| ENST00000638155 | Q05086-2 | 439 | 336 |
| ENST00000635914 | A0A1B0GVL3* | 422 | 322 |
| ENST00000625778 | A0A0D9SG77* | 397 | 301 |
| ENST00000636667 | A0A1B0GTB3* | 20 | 17 |
| ENST00000649550 | Q05086-2 | 1 | 1 |
Gene Properties
Recurrent Mutations
All 401 amino-acid changes on canonical ENST00000648336 · 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 UBE3A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UBE3A – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 24/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 33/1390 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Melanoma | 3/210 1% | 43/1899 2% |
| Colorectal Carcinoma | 10/143 7% | 55/3239 2% |
| Cervical Carcinoma | 3/35 9% | 5/422 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 14/810 2% |
| Plasma Cell Myeloma | 0/44 0% | 5/305 2% |
| Gastric Carcinoma | 0/74 0% | 25/1809 1% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Other Solid Cancers | 0/94 0% | 17/1515 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 23/2550 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 14/1592 1% |
| Head and Neck Carcinoma | 4/85 5% | 10/1574 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 4/154 3% | 1/577 0% |
| Non-Cancerous | 2/104 2% | 4/830 0% |
| Breast Carcinoma | 9/144 6% | 9/3264 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Glioma | 1/52 2% | 9/2127 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Prostate Carcinoma | 2/13 15% | 7/2105 0% |
| Kidney Carcinoma | 1/85 1% | 7/1862 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
Mutation Distribution
Where UBE3A is mutated · all tissues, split by cell line vs tissue
How many mutations in UBE3A 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 4,916 mutations in UBE3A
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 |
|---|