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]
Transcription factors with Perturb-seq knockdown data for COCH. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = COCH upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of COCH, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr14:30,621,361–30,622,870 | 252.2 kb | Distal (>10kb) Multiome | 1061 | |
| chr14:30,822,055–30,822,752 | 52.2 kb | Distal (>10kb) Multiome | 275 | |
| chr14:30,873,914–30,876,058 | 38 bp | At TSS Multiome | 887 | |
| chr14:31,025,320–31,027,211 | 152.1 kb | Distal (>10kb) Multiome | 1060 | |
| chr14:31,038,509–31,039,198 | 164.3 kb | Distal (>10kb) Multiome | 498 | |
| chr14:31,059,276–31,059,946 | 185.3 kb | Distal (>10kb) Multiome | 491 | |
| chr14:31,060,184–31,060,800 | 186.0 kb | Distal (>10kb) Multiome | 152 |
Genomic view of the COCH locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.