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 | 2,373 | 366 | 1,952 |
| Samples | 1,068 | 212 | 837 |
| Peptides | 1,012 | 195 | 847 |
Function
SHANK2 · SH3 and multiple ankyrin repeat domains 2
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000601538 | Q9UPX8 | 1,319 | 895 |
| ENST00000409161 | E7EUA2* | 901 | 645 |
| ENST00000338508 | A0ACM8QDE2* | 80 | 54 |
| ENST00000656230 | Q9UPX8-1 | 73 | 55 |
Gene Properties
Recurrent Mutations
All 896 amino-acid changes on canonical ENST00000601538 · 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 SHANK2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SHANK2 – 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 | 9/40 22% | 0/0 0% |
| Melanoma | 29/210 14% | 158/1899 8% |
| Endometrial Carcinoma | 11/42 26% | 37/612 6% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 77/1809 4% |
| Hodgkins Lymphoma | 3/16 19% | 3/122 2% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Other Solid Cancers | 2/94 2% | 61/1515 4% |
| Colorectal Carcinoma | 28/143 20% | 103/3239 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 20/304 7% | 38/1390 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 27/810 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 7/422 2% |
| Neuroendocrine Tumour | 10/154 6% | 6/577 1% |
| Other Sarcomas | 4/69 6% | 12/699 2% |
| Ovarian Carcinoma | 12/109 11% | 10/998 1% |
| Bladder Carcinoma | 1/58 2% | 19/956 2% |
| Head and Neck Carcinoma | 3/85 4% | 27/1574 2% |
| Hepatocellular Carcinoma | 1/46 2% | 38/2210 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 37/2550 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Ewings Sarcoma | 4/63 6% | 1/262 0% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Plasma Cell Myeloma | 4/44 9% | 0/305 0% |
| Esophageal Carcinoma | 2/23 9% | 7/769 1% |
Mutation Distribution
Where SHANK2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SHANK2 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 2,373 mutations in SHANK2
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 |
|---|