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 | 428 | 54 | 363 |
| Samples | 190 | 27 | 156 |
| Peptides | 183 | 28 | 151 |
Function
SKP2 · S-phase kinase associated protein 2
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000274255 | Q13309 | 179 | 142 |
| ENST00000274254 | Q13309-2 | 159 | 124 |
| ENST00000508514 | D6RAG5* | 69 | 60 |
| ENST00000546211 | A0A0A0MTL5* | 16 | 9 |
| ENST00000620197 | A0A7P0S4R7* | 5 | 5 |
Gene Properties
Recurrent Mutations
All 142 amino-acid changes on canonical ENST00000274255 · 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 SKP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SKP2 – 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 |
|---|---|---|
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Melanoma | 2/210 1% | 24/1899 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 15/1390 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Colorectal Carcinoma | 9/143 6% | 17/3239 1% |
| Gastric Carcinoma | 2/74 3% | 12/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Ovarian Carcinoma | 0/109 0% | 5/998 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
Mutation Distribution
Where SKP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SKP2 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 428 mutations in SKP2
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 |
|---|