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 | 12,241 | 1,786 | 10,342 |
| Samples | 2,873 | 568 | 2,267 |
| Peptides | 3,271 | 598 | 2,784 |
Function
NEB · Nebulin
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009].
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 2500 amino-acid changes on canonical ENST00000397345 · 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 NEB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NEB – 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 | 16/40 40% | 0/0 0% |
| Oral Cavity Carcinoma | 13/54 24% | 0/0 0% |
| Chronic Myelogenous Leukemia | 6/25 24% | 0/0 0% |
| Melanoma | 43/210 20% | 341/1899 18% |
| Endometrial Carcinoma | 23/42 55% | 93/612 15% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Glioblastoma | 14/98 14% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 16/133 12% |
| Colorectal Carcinoma | 50/143 35% | 349/3239 11% |
| Non-Small Cell Lung Carcinoma | 59/304 19% | 136/1390 10% |
| Squamous Cell Lung Carcinoma | 12/57 21% | 83/810 10% |
| Chordoma | 1/7 14% | 1/13 8% |
| Acute Myeloid Leukemia | 9/90 10% | 0/0 0% |
| Hodgkins Lymphoma | 7/16 44% | 6/122 5% |
| Gastric Carcinoma | 28/74 38% | 141/1809 8% |
| Cervical Carcinoma | 8/35 23% | 28/422 7% |
| Other Solid Cancers | 14/94 15% | 110/1515 7% |
| Bladder Carcinoma | 8/58 14% | 70/956 7% |
| Plasma Cell Myeloma | 9/44 20% | 14/305 5% |
| Neuroendocrine Tumour | 25/154 16% | 23/577 4% |
| Esophageal Squamous Cell Carcinoma | 14/51 27% | 121/2550 5% |
| Unknown | 1/10 10% | 1/29 3% |
| Head and Neck Carcinoma | 13/85 15% | 71/1574 5% |
| Hepatocellular Carcinoma | 8/46 17% | 94/2210 4% |
| Burkitts Lymphoma | 10/32 31% | 0/196 0% |
| Esophageal Carcinoma | 1/23 4% | 33/769 4% |
| Ewings Sarcoma | 8/63 13% | 5/262 2% |
| Ovarian Carcinoma | 13/109 12% | 31/998 3% |
| Mesothelioma | 8/62 13% | 1/165 1% |
| Breast Carcinoma | 25/144 17% | 109/3264 3% |
Mutation Distribution
Where NEB is mutated · all tissues, split by cell line vs tissue
How many mutations in NEB 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 12,241 mutations in NEB
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 |
|---|