The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
Transcription factors with Perturb-seq knockdown data for DPH1. 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 = DPH1 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 DPH1, 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 |
|---|---|---|---|---|
| chr17:1,829,368–1,830,287 | 200.2 kb | Distal (>10kb) Multiome | 660 | |
| chr17:1,908,573–1,908,999 | 121.5 kb | Distal (>10kb) Multiome | 239 | |
| chr17:1,997,556–1,998,757 | 32.0 kb | Distal (>10kb) Multiome | 543 | |
| chr17:2,023,483–2,024,229 | 6.4 kb | Proximal (<10kb) Multiome | 281 | |
| chr17:2,024,335–2,024,664 | 5.5 kb | Proximal (<10kb) | 163 | |
| chr17:2,024,769–2,026,284 | 4.7 kb | Proximal (<10kb) Multiome | 459 | |
| chr17:2,029,741–2,030,885 | 81 bp | At TSS Multiome | 871 | |
| chr17:2,041,423–2,042,366 | 11.8 kb | Distal (>10kb) Multiome | 834 | |
| chr17:2,048,764–2,051,218 | 20.1 kb | Distal (>10kb) Multiome | 658 | |
| chr17:2,053,643–2,054,179 | 23.6 kb | Distal (>10kb) Multiome | 473 | |
| chr17:2,054,616–2,055,766 | 24.9 kb | Distal (>10kb) Multiome | 544 | |
| chr17:2,058,401–2,059,503 | 28.7 kb | Distal (>10kb) Multiome | 366 | |
| chr17:2,302,778–2,304,288 | 273.6 kb | Distal (>10kb) Multiome | 770 |
Genomic view of the DPH1 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.