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 | 931 | 141 | 783 |
| Samples | 324 | 68 | 253 |
| Peptides | 226 | 43 | 191 |
Function
LMOD3 · Leiomodin 3
The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015].
Isoforms & Proteins
3 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 226 amino-acid changes on canonical ENST00000420581 · 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 LMOD3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LMOD3 – 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 | 4/25 16% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 17/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Melanoma | 3/210 1% | 50/1899 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 23/1515 2% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 12/1390 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Colorectal Carcinoma | 9/143 6% | 31/3239 1% |
| Gastric Carcinoma | 2/74 3% | 20/1809 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Glioma | 2/52 4% | 12/2127 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 9/2534 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Prostate Carcinoma | 0/13 0% | 8/2105 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Kidney Carcinoma | 1/85 1% | 5/1862 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
Mutation Distribution
Where LMOD3 is mutated · all tissues, split by cell line vs tissue
How many mutations in LMOD3 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 931 mutations in LMOD3
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 |
|---|