This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for DOCK8. 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 = DOCK8 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 DOCK8, 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 |
|---|---|---|---|---|
| chr9:72,989–73,599 | 141.7 kb | Distal (>10kb) Multiome | 42 | |
| chr9:113,338–114,370 | 101.0 kb | Distal (>10kb) Multiome | 117 | |
| chr9:214,473–215,549 | 128 bp | At TSS Multiome | 678 | |
| chr9:222,426–223,483 | 7.4 kb | Proximal (<10kb) Multiome | 174 | |
| chr9:259,527–260,467 | 44.8 kb | Distal (>10kb) Multiome | 194 | |
| chr9:346,260–346,845 | 131.3 kb | Distal (>10kb) Multiome | 154 | |
| chr9:469,614–470,747 | 255.0 kb | Distal (>10kb) Multiome | 716 | |
| chr9:503,864–505,731 | 289.4 kb | Distal (>10kb) Multiome | 741 |
Genomic view of the DOCK8 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.