This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DIAPH1. 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 = DIAPH1 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 DIAPH1, 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 |
|---|---|---|---|---|
| chr5:141,320,208–141,321,296 | 298.2 kb | Distal (>10kb) Multiome | 954 | |
| chr5:141,407,865–141,408,477 | 210.9 kb | Distal (>10kb) Multiome | 109 | |
| chr5:141,417,522–141,418,139 | 201.2 kb | Distal (>10kb) Multiome | 106 | |
| chr5:141,475,524–141,476,908 | 143.0 kb | Distal (>10kb) Multiome | 402 | |
| chr5:141,484,493–141,485,507 | 134.0 kb | Distal (>10kb) Multiome | 189 | |
| chr5:141,508,593–141,509,337 | 109.9 kb | Distal (>10kb) Multiome | 242 | |
| chr5:141,512,198–141,512,900 | 106.4 kb | Distal (>10kb) Multiome | 300 | |
| chr5:141,513,616–141,515,069 | 104.3 kb | Distal (>10kb) Multiome | 392 | |
| chr5:141,524,502–141,525,311 | 94.0 kb | Distal (>10kb) Multiome | 605 | |
| chr5:141,557,658–141,558,135 | 61.0 kb | Distal (>10kb) Multiome | 373 | |
| chr5:141,560,663–141,561,120 | 58.0 kb | Distal (>10kb) Multiome | 327 | |
| chr5:141,617,831–141,619,550 | 186 bp | At TSS Multiome | 1037 | |
| chr5:141,636,256–141,638,491 | 18.0 kb | Distal (>10kb) Multiome | 852 | |
| chr5:141,650,837–141,651,870 | 32.5 kb | Distal (>10kb) Multiome | 438 | |
| chr5:141,680,751–141,681,516 | 62.1 kb | Distal (>10kb) Multiome | 257 | |
| chr5:141,681,692–141,682,621 | 63.3 kb | Distal (>10kb) Multiome | 554 | |
| chr5:141,692,108–141,692,560 | 73.4 kb | Distal (>10kb) Multiome | 498 | |
| chr5:141,702,181–141,702,796 | 83.5 kb | Distal (>10kb) Multiome | 351 | |
| chr5:141,795,082–141,795,688 | 176.4 kb | Distal (>10kb) Multiome | 25 | |
| chr5:141,811,578–141,812,181 | 193.0 kb | Distal (>10kb) Multiome | 243 | |
| chr5:141,816,277–141,817,287 | 197.9 kb | Distal (>10kb) Multiome | 210 | |
| chr5:141,838,853–141,839,539 | 220.4 kb | Distal (>10kb) Multiome | 185 | |
| chr5:141,845,184–141,846,305 | 226.8 kb | Distal (>10kb) Multiome | 188 | |
| chr5:141,848,609–141,851,214 | 230.5 kb | Distal (>10kb) Multiome | 892 | |
| chr5:141,858,059–141,858,606 | 239.4 kb | Distal (>10kb) Multiome | 80 | |
| chr5:141,875,925–141,877,406 | 257.4 kb | Distal (>10kb) Multiome | 506 | |
| chr5:141,877,575–141,879,487 | 259.5 kb | Distal (>10kb) Multiome | 693 |
Genomic view of the DIAPH1 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.