This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SC5D. 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 = SC5D 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 SC5D, 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 |
|---|---|---|---|---|
| chr11:121,023,770–121,024,643 | 268.7 kb | Distal (>10kb) Multiome | 720 | |
| chr11:121,245,998–121,246,994 | 46.5 kb | Distal (>10kb) Multiome | 99 | |
| chr11:121,282,691–121,283,424 | 9.7 kb | Proximal (<10kb) Multiome | 96 | |
| chr11:121,292,065–121,293,479 | 29 bp | At TSS Multiome | 859 | |
| chr11:121,298,678–121,299,105 | 5.9 kb | Proximal (<10kb) | 73 | |
| chr11:121,372,629–121,373,421 | 80.3 kb | Distal (>10kb) Multiome | 106 | |
| chr11:121,451,709–121,452,820 | 159.5 kb | Distal (>10kb) Multiome | 653 | |
| chr11:121,479,068–121,480,080 | 186.8 kb | Distal (>10kb) Multiome | 154 |
Genomic view of the SC5D 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.