BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
Transcription factors with Perturb-seq knockdown data for BLOC1S1. 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 = BLOC1S1 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 BLOC1S1, 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 |
|---|---|---|---|---|
| chr12:55,630,484–55,631,684 | 85.0 kb | Distal (>10kb) Multiome | 41 | |
| chr12:55,645,990–55,646,787 | 69.7 kb | Distal (>10kb) Multiome | 520 | |
| chr12:55,681,171–55,682,136 | 34.4 kb | Distal (>10kb) Multiome | 647 | |
| chr12:55,707,276–55,708,500 | 8.1 kb | Proximal (<10kb) Multiome HiCAR | 372 | |
| chr12:55,715,733–55,716,775 | 181 bp | At TSS Multiome | 929 | |
| chr12:55,721,046–55,721,445 | 5.0 kb | Proximal (<10kb) | 305 | |
| chr12:55,724,713–55,724,888 | 8.6 kb | Proximal (<10kb) | 167 | |
| chr12:55,727,952–55,730,453 | 13.6 kb | Distal (>10kb) Multiome HiCAR | 895 | |
| chr12:55,736,969–55,737,781 | 21.2 kb | Distal (>10kb) Multiome | 496 | |
| chr12:55,737,830–55,739,085 | 22.5 kb | Distal (>10kb) Multiome | 475 | |
| chr12:55,742,540–55,744,252 | 27.1 kb | Distal (>10kb) Multiome | 631 | |
| chr12:55,745,091–55,746,361 | 29.8 kb | Distal (>10kb) Multiome | 299 | |
| chr12:55,817,254–55,818,558 | 101.8 kb | Distal (>10kb) Multiome | 749 | |
| chr12:55,829,008–55,831,505 | 113.6 kb | Distal (>10kb) Multiome | 921 | |
| chr12:55,926,651–55,928,471 | 210.9 kb | Distal (>10kb) Multiome | 993 | |
| chr12:55,931,904–55,932,439 | 216.0 kb | Distal (>10kb) Multiome | 279 | |
| chr12:55,940,073–55,940,746 | 224.3 kb | Distal (>10kb) Multiome | 478 | |
| chr12:55,966,006–55,967,470 | 250.7 kb | Distal (>10kb) Multiome | 615 | |
| chr12:55,973,347–55,974,716 | 257.8 kb | Distal (>10kb) Multiome | 966 | |
| chr12:55,996,814–55,997,861 | 281.2 kb | Distal (>10kb) Multiome | 680 | |
| chr12:56,006,888–56,008,461 | 291.5 kb | Distal (>10kb) Multiome | 745 |
Genomic view of the BLOC1S1 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.