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 | 1,459 | 175 | 1,233 |
| Samples | 416 | 75 | 328 |
| Peptides | 383 | 59 | 338 |
Function
PRKN · Parkin RBR E3 ubiquitin protein ligase
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
7 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 |
|---|---|---|---|
| ENST00000366898 | O60260 | 448 | 305 |
| ENST00000366897 | O60260-2 | 367 | 266 |
| ENST00000366892 | A0A0S2Z420* | 316 | 224 |
| ENST00000366896 | O60260-6 | 270 | 195 |
| ENST00000479615 | O60260-3 | 44 | 30 |
| ENST00000366894 | A0A6Q8JKI7* | 8 | 4 |
| ENST00000338468 | A0A6Q8JJ39* | 6 | 4 |
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 PRKN is mutated · all tissues, split by cell line vs tissue
How many mutations in PRKN 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.
Mutations
All 1,459 mutations in PRKN
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 |
|---|