The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
Transcription factors with Perturb-seq knockdown data for BLM. 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 = BLM 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 BLM, 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 |
|---|---|---|---|---|
| chr15:90,529,290–90,530,702 | 187.4 kb | Distal (>10kb) Multiome | 627 | |
| chr15:90,708,607–90,708,838 | 8.5 kb | Proximal (<10kb) | 61 | |
| chr15:90,716,853–90,717,827 | 63 bp | At TSS Multiome | 824 | |
| chr15:90,839,491–90,840,162 | 122.4 kb | Distal (>10kb) Multiome | 261 | |
| chr15:90,883,883–90,884,953 | 167.1 kb | Distal (>10kb) Multiome | 304 | |
| chr15:90,902,271–90,903,624 | 185.3 kb | Distal (>10kb) Multiome | 817 | |
| chr15:90,931,729–90,933,077 | 214.6 kb | Distal (>10kb) Multiome | 926 | |
| chr15:90,934,164–90,935,936 | 217.9 kb | Distal (>10kb) Multiome | 701 | |
| chr15:90,954,493–90,955,641 | 237.6 kb | Distal (>10kb) Multiome | 974 | |
| chr15:90,956,070–90,957,754 | 239.4 kb | Distal (>10kb) Multiome | 410 | |
| chr15:90,994,023–90,995,142 | 277.4 kb | Distal (>10kb) Multiome | 929 |
Genomic view of the BLM 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.