SHANK3
SH3 and multiple ankyrin repeat domains 3Stats 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 | 94 | 7 | 86 |
| Samples | 91 | 7 | 83 |
| Peptides | 67 | 7 | 62 |
Function
SHANK3 · SH3 and multiple ankyrin repeat domains 3
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000262795 | - | 49 | 33 |
| ENST00000445220 | - | 45 | 34 |
Gene Properties
Recurrent Mutations
All 33 amino-acid changes on canonical ENST00000262795 · 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 SHANK3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SHANK3 – 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 |
|---|---|---|
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Melanoma | 0/210 0% | 10/1899 1% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Colorectal Carcinoma | 2/143 1% | 12/3239 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 1/1390 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where SHANK3 is mutated · all tissues, split by cell line vs tissue
How many mutations in SHANK3 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 94 mutations in SHANK3
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 |
|---|