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 | 2,345 | 644 | 1,661 |
| Samples | 1,102 | 367 | 717 |
| Peptides | 862 | 277 | 606 |
Function
OTOG · Otogelin
The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
Isoforms & Proteins
2 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 747 amino-acid changes on canonical ENST00000399391 · 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 OTOG · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in OTOG – 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 | 12/40 30% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Neuroendocrine Tumour | 35/154 23% | 7/577 1% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Melanoma | 29/210 14% | 84/1899 4% |
| Non-Small Cell Lung Carcinoma | 47/304 15% | 43/1390 3% |
| Hodgkins Lymphoma | 3/16 19% | 4/122 3% |
| Other Solid Cancers | 4/94 4% | 74/1515 5% |
| Endometrial Carcinoma | 10/42 24% | 20/612 3% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Gastric Carcinoma | 14/74 19% | 66/1809 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Germ Cell Tumour | 5/25 20% | 2/169 1% |
| Colorectal Carcinoma | 36/143 25% | 69/3239 2% |
| Esophageal Squamous Cell Carcinoma | 9/51 18% | 67/2550 3% |
| Other Sarcomas | 10/69 14% | 12/699 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 19/752 3% |
| Biliary Tract Carcinoma | 1/54 2% | 25/950 3% |
| Ewings Sarcoma | 8/63 13% | 0/262 0% |
| Thyroid Gland Carcinoma | 8/45 18% | 30/1592 2% |
| Cervical Carcinoma | 1/35 3% | 9/422 2% |
| Hepatocellular Carcinoma | 6/46 13% | 41/2210 2% |
| Mesothelioma | 4/62 6% | 0/165 0% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Plasma Cell Myeloma | 6/44 14% | 0/305 0% |
| Non-Cancerous | 2/104 2% | 13/830 2% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 4/810 0% |
| Rhabdomyosarcoma | 2/33 6% | 1/171 1% |
Mutation Distribution
Where OTOG is mutated · all tissues, split by cell line vs tissue
How many mutations in OTOG 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 37 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 2,345 mutations in OTOG
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 |
|---|