This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for FGD1. 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 = FGD1 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 FGD1, 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 |
|---|---|---|---|---|
| chrX:54,357,469–54,359,170 | 138.2 kb | Distal (>10kb) Multiome | 438 | |
| chrX:54,388,044–54,388,641 | 107.9 kb | Distal (>10kb) Multiome | 49 | |
| chrX:54,439,963–54,440,865 | 55.9 kb | Distal (>10kb) Multiome | 587 | |
| chrX:54,495,407–54,496,558 | 121 bp | At TSS Multiome | 248 | |
| chrX:54,529,579–54,530,565 | 33.9 kb | Distal (>10kb) Multiome | 641 | |
| chrX:54,639,123–54,640,128 | 143.5 kb | Distal (>10kb) Multiome | 686 |
Genomic view of the FGD1 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.