This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for BCS1L. 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 = BCS1L 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 BCS1L, 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 |
|---|---|---|---|---|
| chr2:218,367,421–218,368,194 | 290.9 kb | Distal (>10kb) Multiome | 450 | |
| chr2:218,387,091–218,388,220 | 270.9 kb | Distal (>10kb) Multiome | 514 | |
| chr2:218,395,568–218,397,399 | 262.5 kb | Distal (>10kb) Multiome | 1048 | |
| chr2:218,397,484–218,401,433 | 260.8 kb | Distal (>10kb) Multiome | 1114 | |
| chr2:218,405,424–218,407,478 | 252.3 kb | Distal (>10kb) Multiome | 1093 | |
| chr2:218,567,787–218,569,400 | 90.2 kb | Distal (>10kb) Multiome | 1083 | |
| chr2:218,658,668–218,660,011 | 848 bp | At TSS Multiome | 870 | |
| chr2:218,671,689–218,672,558 | 13.3 kb | Distal (>10kb) Multiome | 794 | |
| chr2:218,710,272–218,711,420 | 52.1 kb | Distal (>10kb) Multiome | 957 | |
| chr2:218,781,682–218,782,718 | 123.4 kb | Distal (>10kb) Multiome | 674 | |
| chr2:218,798,810–218,799,640 | 140.5 kb | Distal (>10kb) Multiome | 163 | |
| chr2:218,799,866–218,800,388 | 141.6 kb | Distal (>10kb) Multiome | 82 | |
| chr2:218,860,491–218,861,382 | 202.3 kb | Distal (>10kb) Multiome | 241 | |
| chr2:218,883,560–218,884,239 | 225.2 kb | Distal (>10kb) Multiome | 190 | |
| chr2:218,892,714–218,893,400 | 234.2 kb | Distal (>10kb) Multiome | 591 | |
| chr2:218,898,077–218,898,730 | 239.6 kb | Distal (>10kb) Multiome | 624 | |
| chr2:218,908,757–218,909,543 | 250.4 kb | Distal (>10kb) Multiome | 885 | |
| chr2:218,959,145–218,960,352 | 300.8 kb | Distal (>10kb) Multiome | 416 |
Genomic view of the BCS1L 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.