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 | 2,115 | 255 | 1,833 |
| Samples | 495 | 83 | 406 |
| Peptides | 436 | 73 | 375 |
Function
LDB3 · LIM domain binding 3
This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010].
Isoforms & Proteins
8 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 327 amino-acid changes on canonical ENST00000361373 · 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 LDB3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LDB3 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 8/42 19% | 17/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Colorectal Carcinoma | 15/143 10% | 63/3239 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 17/810 2% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 21/1390 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 4/210 2% | 35/1899 2% |
| Thyroid Gland Carcinoma | 0/45 0% | 29/1592 2% |
| Other Solid Cancers | 3/94 3% | 20/1515 1% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 34/2534 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 25/2550 1% |
| Head and Neck Carcinoma | 1/85 1% | 17/1574 1% |
| Gastric Carcinoma | 0/74 0% | 20/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Ovarian Carcinoma | 2/109 2% | 7/998 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Hepatocellular Carcinoma | 1/46 2% | 16/2210 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Kidney Carcinoma | 3/85 4% | 7/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
Mutation Distribution
Where LDB3 is mutated · all tissues, split by cell line vs tissue
How many mutations in LDB3 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 2,115 mutations in LDB3
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 |
|---|