This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for EFTUD2. 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 = EFTUD2 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 EFTUD2, 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 |
|---|---|---|---|---|
| chr17:44,608,340–44,608,975 | 290.8 kb | Distal (>10kb) Multiome | 208 | |
| chr17:44,628,394–44,629,188 | 270.8 kb | Distal (>10kb) Multiome | 285 | |
| chr17:44,656,036–44,656,706 | 243.1 kb | Distal (>10kb) Multiome | 280 | |
| chr17:44,689,325–44,690,416 | 209.6 kb | Distal (>10kb) Multiome | 916 | |
| chr17:44,758,700–44,759,204 | 140.5 kb | Distal (>10kb) Multiome | 167 | |
| chr17:44,774,509–44,776,365 | 124.6 kb | Distal (>10kb) Multiome HiCAR | 794 | |
| chr17:44,778,982–44,779,764 | 120.0 kb | Distal (>10kb) Multiome HiCAR | 595 | |
| chr17:44,829,525–44,830,482 | 69.3 kb | Distal (>10kb) Multiome | 503 | |
| chr17:44,899,009–44,900,053 | 235 bp | At TSS Multiome | 987 | |
| chr17:44,911,165–44,911,786 | 12.0 kb | Distal (>10kb) Multiome | 412 | |
| chr17:44,947,322–44,948,161 | 48.4 kb | Distal (>10kb) Multiome | 891 | |
| chr17:44,966,864–44,969,160 | 69.1 kb | Distal (>10kb) Multiome | 526 | |
| chr17:44,987,181–44,987,616 | 88.2 kb | Distal (>10kb) Multiome | 93 | |
| chr17:45,021,768–45,022,248 | 122.7 kb | Distal (>10kb) Multiome | 739 | |
| chr17:45,051,210–45,051,755 | 152.2 kb | Distal (>10kb) Multiome | 771 | |
| chr17:45,060,587–45,061,694 | 161.8 kb | Distal (>10kb) Multiome | 979 | |
| chr17:45,131,590–45,133,655 | 234.0 kb | Distal (>10kb) Multiome | 898 | |
| chr17:45,135,189–45,136,052 | 236.2 kb | Distal (>10kb) Multiome | 930 | |
| chr17:45,143,207–45,145,183 | 244.5 kb | Distal (>10kb) Multiome | 308 | |
| chr17:45,147,066–45,150,271 | 248.0 kb | Distal (>10kb) Multiome | 1345 | |
| chr17:45,160,688–45,162,340 | 262.3 kb | Distal (>10kb) Multiome | 1200 | |
| chr17:45,197,493–45,198,189 | 298.6 kb | Distal (>10kb) Multiome | 835 |
Genomic view of the EFTUD2 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.