Stats by Source
Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Global = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Global | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 4,913 | 467 | 4,313 |
| Samples | 447 | 75 | 364 |
| Peptides | 434 | 68 | 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 | 442 | 334 |
| 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
Top recurrent amino-acid changes along the protein · needle height = number of mutations
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 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 4,913 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 | Peptide |
|---|