This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
Transcription factors with Perturb-seq knockdown data for SBDS. 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 = SBDS 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 SBDS, 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 |
|---|---|---|---|---|
| chr7:66,740,305–66,741,524 | 254.9 kb | Distal (>10kb) Multiome | 898 | |
| chr7:66,844,266–66,845,342 | 150.7 kb | Distal (>10kb) Multiome | 851 | |
| chr7:66,920,765–66,921,508 | 74.4 kb | Distal (>10kb) Multiome | 957 | |
| chr7:66,994,801–66,994,996 | at TSS | At TSS | 159 | |
| chr7:66,995,101–66,995,823 | 95 bp | At TSS Multiome | 496 | |
| chr7:66,996,514–66,997,168 | 1.2 kb | Proximal (<10kb) Multiome | 407 | |
| chr7:67,099,256–67,099,739 | 103.9 kb | Distal (>10kb) Multiome | 33 | |
| chr7:67,179,175–67,179,622 | 183.8 kb | Distal (>10kb) Multiome | 83 |
Genomic view of the SBDS 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.