This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for ESPN. 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 = ESPN 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 ESPN, 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 |
|---|---|---|---|---|
| chr1:6,148,503–6,149,108 | 291.6 kb | Distal (>10kb) Multiome | 254 | |
| chr1:6,199,148–6,200,364 | 240.7 kb | Distal (>10kb) Multiome | 992 | |
| chr1:6,204,893–6,206,690 | 235.1 kb | Distal (>10kb) Multiome | 913 | |
| chr1:6,208,737–6,209,635 | 231.0 kb | Distal (>10kb) Multiome | 362 | |
| chr1:6,235,160–6,236,710 | 204.4 kb | Distal (>10kb) Multiome | 673 | |
| chr1:6,241,773–6,242,771 | 198.1 kb | Distal (>10kb) Multiome | 241 | |
| chr1:6,244,532–6,247,144 | 194.3 kb | Distal (>10kb) Multiome | 1073 | |
| chr1:6,248,779–6,250,153 | 190.9 kb | Distal (>10kb) Multiome | 287 | |
| chr1:6,259,688–6,261,954 | 180.2 kb | Distal (>10kb) Multiome | 550 | |
| chr1:6,392,724–6,394,325 | 46.8 kb | Distal (>10kb) Multiome | 819 | |
| chr1:6,418,998–6,420,339 | 20.6 kb | Distal (>10kb) Multiome | 335 | |
| chr1:6,423,506–6,423,940 | 834 bp | At TSS | 343 | |
| chr1:6,424,660–6,425,228 | at TSS | At TSS | 266 | |
| chr1:6,438,098–6,438,531 | 1.8 kb | Proximal (<10kb) | 186 | |
| chr1:6,440,165–6,441,114 | 244 bp | At TSS Multiome | 215 | |
| chr1:6,446,981–6,449,427 | 6.8 kb | Proximal (<10kb) Multiome | 665 | |
| chr1:6,455,053–6,455,773 | 15.0 kb | Distal (>10kb) Multiome | 105 | |
| chr1:6,470,716–6,471,189 | 30.5 kb | Distal (>10kb) Multiome | 148 | |
| chr1:6,471,308–6,471,972 | 31.2 kb | Distal (>10kb) Multiome | 192 | |
| chr1:6,486,194–6,486,953 | 46.3 kb | Distal (>10kb) Multiome | 416 | |
| chr1:6,489,772–6,491,050 | 49.7 kb | Distal (>10kb) Multiome | 676 | |
| chr1:6,497,162–6,497,841 | 57.1 kb | Distal (>10kb) Multiome | 324 | |
| chr1:6,554,053–6,554,774 | 114.2 kb | Distal (>10kb) Multiome | 897 | |
| chr1:6,579,406–6,580,453 | 139.6 kb | Distal (>10kb) Multiome | 684 | |
| chr1:6,601,460–6,604,144 | 162.5 kb | Distal (>10kb) Multiome | 1062 | |
| chr1:6,612,539–6,615,225 | 173.2 kb | Distal (>10kb) Multiome | 806 | |
| chr1:6,624,591–6,625,845 | 184.8 kb | Distal (>10kb) Multiome | 730 | |
| chr1:6,701,304–6,702,223 | 261.5 kb | Distal (>10kb) Multiome | 1025 |
Genomic view of the ESPN 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.