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 | 1,010 | 233 | 763 |
| Samples | 899 | 203 | 684 |
| Peptides | 677 | 139 | 559 |
Function
DLG5 · Discs large MAGUK scaffold protein 5
This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000372391 | Q8TDM6 | 1,010 | 677 |
Gene Properties
Recurrent Mutations
All 677 amino-acid changes on canonical ENST00000372391 · 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 DLG5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DLG5 – 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% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 37/612 6% |
| Melanoma | 15/210 7% | 91/1899 5% |
| Non-Small Cell Lung Carcinoma | 32/304 11% | 39/1390 3% |
| Colorectal Carcinoma | 29/143 20% | 106/3239 3% |
| Gastric Carcinoma | 4/74 5% | 58/1809 3% |
| Cervical Carcinoma | 4/35 11% | 11/422 3% |
| Other Solid Cancers | 2/94 2% | 43/1515 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Bladder Carcinoma | 2/58 3% | 22/956 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 2/171 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 11/810 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Neuroendocrine Tumour | 8/154 5% | 5/577 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 25/1592 2% |
| Esophageal Carcinoma | 3/23 13% | 10/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 15/950 2% |
| Ovarian Carcinoma | 4/109 4% | 12/998 1% |
| Plasma Cell Myeloma | 1/44 2% | 4/305 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Head and Neck Carcinoma | 3/85 4% | 20/1574 1% |
| Other Sarcomas | 4/69 6% | 6/699 1% |
| Non-Cancerous | 5/104 5% | 7/830 1% |
| Glioma | 0/52 0% | 28/2127 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 7/752 1% |
Mutation Distribution
Where DLG5 is mutated · all tissues, split by cell line vs tissue
How many mutations in DLG5 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 1,010 mutations in DLG5
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 |
|---|