This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for OFD1. 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 = OFD1 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 OFD1, 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:13,652,915–13,653,709 | 81.5 kb | Distal (>10kb) Multiome | 692 | |
| chrX:13,688,926–13,689,830 | 45.6 kb | Distal (>10kb) Multiome | 608 | |
| chrX:13,725,022–13,725,237 | 9.5 kb | Proximal (<10kb) | 9 | |
| chrX:13,734,289–13,735,335 | 6 bp | At TSS Multiome | 668 | |
| chrX:13,741,367–13,741,894 | 6.6 kb | Proximal (<10kb) | 14 | |
| chrX:13,937,416–13,939,477 | 203.8 kb | Distal (>10kb) Multiome | 380 | |
| chrX:14,029,131–14,030,229 | 295.1 kb | Distal (>10kb) Multiome HiCAR | 840 |
Genomic view of the OFD1 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.