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 | 201 | 41 | 157 |
| Samples | 199 | 41 | 155 |
| Peptides | 152 | 28 | 126 |
Function
SKAP2 · Src kinase associated phosphoprotein 2
The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 151 amino-acid changes on canonical ENST00000345317 · 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 SKAP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SKAP2 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 9/210 4% | 35/1899 2% |
| Endometrial Carcinoma | 4/42 10% | 6/612 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 12/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 6/143 4% | 19/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 10/1592 1% |
| Other Solid Cancers | 2/94 2% | 7/1515 0% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Glioma | 1/52 2% | 7/2127 0% |
| Breast Carcinoma | 4/144 3% | 8/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
Mutation Distribution
Where SKAP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SKAP2 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 201 mutations in SKAP2
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 |
|---|