This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for DIAPH3. 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 = DIAPH3 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 DIAPH3, 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 |
|---|---|---|---|---|
| chr13:59,971,432–59,972,343 | 191.9 kb | Distal (>10kb) Multiome | 83 | |
| chr13:60,156,038–60,156,702 | 7.2 kb | Proximal (<10kb) | 92 | |
| chr13:60,158,272–60,159,705 | 5.1 kb | Proximal (<10kb) Multiome | 237 | |
| chr13:60,161,446–60,161,738 | 2.2 kb | Proximal (<10kb) | 8 | |
| chr13:60,163,281–60,164,945 | 59 bp | At TSS Multiome | 821 | |
| chr13:60,165,156–60,166,059 | 1.6 kb | Proximal (<10kb) Multiome | 211 | |
| chr13:60,167,221–60,167,961 | 3.3 kb | Proximal (<10kb) | 51 | |
| chr13:60,169,337–60,169,699 | 5.4 kb | Proximal (<10kb) | 20 | |
| chr13:60,267,323–60,268,202 | 103.8 kb | Distal (>10kb) Multiome | 201 | |
| chr13:60,331,090–60,331,740 | 167.5 kb | Distal (>10kb) Multiome | 67 | |
| chr13:60,395,838–60,398,034 | 233.6 kb | Distal (>10kb) Multiome | 985 |
Genomic view of the DIAPH3 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.