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 | 1,620 | 102 | 1,508 |
| Samples | 277 | 35 | 239 |
| Peptides | 212 | 27 | 187 |
Function
COCH · Cochlin
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000396618 | O43405 | 259 | 180 |
| ENST00000216361 | A0A2U3TZE7* | 238 | 168 |
| ENST00000555117 | A0A2R8Y3T0* | 238 | 157 |
| ENST00000643575 | O43405 | 236 | 166 |
| ENST00000644874 | O43405 | 236 | 166 |
| ENST00000475087 | O43405-2 | 231 | 151 |
| ENST00000460581 | G3V4C4* | 181 | 127 |
| ENST00000468826 | H0YJW4* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 180 amino-acid changes on canonical ENST00000396618 · 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 COCH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in COCH – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 20/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Melanoma | 5/210 2% | 40/1899 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Colorectal Carcinoma | 12/143 8% | 23/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 23/2550 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 15/1390 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Other Solid Cancers | 1/94 1% | 10/1515 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Head and Neck Carcinoma | 3/85 4% | 5/1574 0% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Breast Carcinoma | 0/144 0% | 10/3264 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
Mutation Distribution
Where COCH is mutated · all tissues, split by cell line vs tissue
How many mutations in COCH 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 1,620 mutations in COCH
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 |
|---|