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 | 18,789 | 2,525 | 15,867 |
| Samples | 3,862 | 773 | 3,008 |
| Peptides | 4,616 | 921 | 3,800 |
Function
OBSCN · Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000570156 | A6NGQ3* | 4,976 | 3,448 |
| ENST00000422127 | A0ABB0I190* | 4,626 | 3,204 |
| ENST00000284548 | A0ABB0H0G2* | 4,043 | 2,783 |
| ENST00000662438 | A0ABB0LN81* | 3,217 | 2,160 |
| ENST00000636476 | A0ABB0L580* | 1,317 | 870 |
| ENST00000680850 | Q5VST9-7 | 610 | 532 |
Gene Properties
Recurrent Mutations
All 531 amino-acid changes on canonical ENST00000680850 · 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 OBSCN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in OBSCN – 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% |
| Chronic Myelogenous Leukemia | 10/25 40% | 0/0 0% |
| Endometrial Carcinoma | 24/42 57% | 122/612 20% |
| Melanoma | 79/210 38% | 377/1899 20% |
| Acute Myeloid Leukemia | 19/90 21% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Oral Cavity Carcinoma | 10/54 19% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 66/304 22% | 213/1390 15% |
| Colorectal Carcinoma | 71/143 50% | 456/3239 14% |
| Gastric Carcinoma | 13/74 18% | 237/1809 13% |
| Hodgkins Lymphoma | 6/16 38% | 11/122 9% |
| Glioblastoma | 12/98 12% | 0/0 0% |
| Cervical Carcinoma | 16/35 46% | 39/422 9% |
| Bladder Carcinoma | 22/58 38% | 88/956 9% |
| Other Solid Cancers | 20/94 21% | 132/1515 9% |
| Neuroendocrine Tumour | 52/154 34% | 15/577 3% |
| Hepatocellular Carcinoma | 21/46 46% | 185/2210 8% |
| Squamous Cell Lung Carcinoma | 14/57 25% | 65/810 8% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 12/133 9% |
| Small Cell Lung Carcinoma | 3/9 33% | 56/752 7% |
| Biliary Tract Carcinoma | 3/54 6% | 73/950 8% |
| Ovarian Carcinoma | 30/109 28% | 46/998 5% |
| Esophageal Carcinoma | 3/23 13% | 51/769 7% |
| Other Sarcomas | 13/69 19% | 35/699 5% |
| Adrenocortical Carcinoma | 3/3 100% | 4/112 4% |
| Head and Neck Carcinoma | 13/85 15% | 82/1574 5% |
| Esophageal Squamous Cell Carcinoma | 15/51 29% | 131/2550 5% |
| Mesothelioma | 10/62 16% | 2/165 1% |
| Thyroid Gland Carcinoma | 11/45 24% | 72/1592 5% |
| Plasma Cell Myeloma | 7/44 16% | 10/305 3% |
Mutation Distribution
Where OBSCN is mutated · all tissues, split by cell line vs tissue
How many mutations in OBSCN 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 18,789 mutations in OBSCN
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 |
|---|