About Enhancer
| Enhancer ID: | E_04763 |
| Species: | Mus musculus |
| Position : | chr5:22013999-22070602   |
| Year: | 2025 |
| Title: | Deciphering enhancers of hearing loss genes for efficient and targeted gene therapy of hereditary deafness. |
| Genome Build: | mm39 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hereditary sensorineural hearing loss |
| PMID: | 40262614 |
| MONDO: | MONDO:0020678 |
| Tissue: | cochlea |
| Tissue Ontology ID: | UBERON:0001842 |
| Cell Source: | Mouse cochlear outer hair cells |
| Cell Type: | outer hair cell |
| Cell Ontology ID: | CL:0000604 |
| Experiment Type: | Slc26a5 intronic E1 element within experimentally dissected Slc26a5 regulatory locus; endogenous knockout and OHC-specific reporter validation |
| High Throughput Method: | ARBITER large-scale in vivo enhancer screening; epigenomic candidate selection |
| Low Throughput Method: | AAV enhancer reporter; CRISPR-Cas9 enhancer knockout; prestin expression; ABR/DPOAE; AAV gene-therapy rescue |
About Target Gene
| Target gene : | Slc26a5 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (mm39)
3 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04764 | chr5:22013999-22070602 | cochlea | outer hair cell | hereditary sensorineural hearing loss |
| E_04765 | chr5:22013999-22070602 | cochlea | outer hair cell | hereditary sensorineural hearing loss |
| E_04766 | chr5:22013999-22070602 | cochlea | outer hair cell | hereditary sensorineural hearing loss |
Expression of Target Genes for the Enhancer