This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for EMG1. 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 = EMG1 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 EMG1, 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 |
|---|---|---|---|---|
| chr12:6,688,517–6,690,027 | 281.5 kb | Distal (>10kb) Multiome | 943 | |
| chr12:6,699,959–6,700,887 | 270.5 kb | Distal (>10kb) Multiome | 263 | |
| chr12:6,723,658–6,724,773 | 246.8 kb | Distal (>10kb) Multiome | 1065 | |
| chr12:6,752,554–6,754,332 | 217.4 kb | Distal (>10kb) Multiome | 975 | |
| chr12:6,763,677–6,764,983 | 206.5 kb | Distal (>10kb) Multiome | 570 | |
| chr12:6,765,172–6,767,791 | 204.6 kb | Distal (>10kb) Multiome | 824 | |
| chr12:6,768,329–6,769,331 | 201.8 kb | Distal (>10kb) Multiome | 249 | |
| chr12:6,778,736–6,779,459 | 191.9 kb | Distal (>10kb) Multiome | 777 | |
| chr12:6,821,268–6,822,155 | 149.2 kb | Distal (>10kb) Multiome | 299 | |
| chr12:6,825,458–6,825,915 | 145.2 kb | Distal (>10kb) Multiome | 404 | |
| chr12:6,828,101–6,829,966 | 141.3 kb | Distal (>10kb) Multiome | 689 | |
| chr12:6,851,017–6,853,279 | 118.6 kb | Distal (>10kb) Multiome | 966 | |
| chr12:6,866,801–6,870,175 | 103.4 kb | Distal (>10kb) Multiome | 887 | |
| chr12:6,871,062–6,874,199 | 98.6 kb | Distal (>10kb) Multiome | 947 | |
| chr12:6,890,735–6,891,820 | 79.7 kb | Distal (>10kb) Multiome | 908 | |
| chr12:6,904,217–6,905,282 | 66.1 kb | Distal (>10kb) Multiome | 566 | |
| chr12:6,914,274–6,914,898 | 56.5 kb | Distal (>10kb) Multiome | 536 | |
| chr12:6,924,156–6,924,592 | 46.4 kb | Distal (>10kb) Multiome | 458 | |
| chr12:6,925,828–6,926,431 | 44.9 kb | Distal (>10kb) Multiome | 407 | |
| chr12:6,927,411–6,928,051 | 43.1 kb | Distal (>10kb) Multiome | 493 | |
| chr12:6,936,709–6,938,342 | 32.9 kb | Distal (>10kb) Multiome | 1008 | |
| chr12:6,942,356–6,945,492 | 26.7 kb | Distal (>10kb) Multiome | 1205 | |
| chr12:6,945,587–6,947,099 | 24.5 kb | Distal (>10kb) Multiome | 618 | |
| chr12:6,961,769–6,963,542 | 7.7 kb | Proximal (<10kb) Multiome | 682 | |
| chr12:6,964,932–6,965,569 | 5.7 kb | Proximal (<10kb) Multiome | 549 | |
| chr12:6,970,111–6,971,189 | 155 bp | At TSS Multiome | 899 | |
| chr12:7,018,028–7,019,126 | 47.8 kb | Distal (>10kb) Multiome HiCAR | 824 | |
| chr12:7,108,059–7,109,582 | 138.4 kb | Distal (>10kb) Multiome | 818 | |
| chr12:7,129,788–7,131,412 | 159.4 kb | Distal (>10kb) Multiome | 619 | |
| chr12:7,188,394–7,190,508 | 217.6 kb | Distal (>10kb) Multiome | 769 |
Genomic view of the EMG1 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.