This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for SORL1. 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 = SORL1 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 SORL1, 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 |
|---|---|---|---|---|
| chr11:121,245,998–121,246,994 | 206.0 kb | Distal (>10kb) Multiome | 99 | |
| chr11:121,282,691–121,283,424 | 169.2 kb | Distal (>10kb) Multiome | 96 | |
| chr11:121,292,065–121,293,479 | 159.6 kb | Distal (>10kb) Multiome | 859 | |
| chr11:121,372,629–121,373,421 | 79.3 kb | Distal (>10kb) Multiome | 106 | |
| chr11:121,451,709–121,452,820 | 38 bp | At TSS Multiome | 653 | |
| chr11:121,479,068–121,480,080 | 27.2 kb | Distal (>10kb) Multiome | 154 | |
| chr11:121,655,309–121,656,263 | 203.5 kb | Distal (>10kb) Multiome | 722 | |
| chr11:121,722,316–121,723,780 | 270.6 kb | Distal (>10kb) Multiome | 681 | |
| chr11:122,512,671–122,513,278 | 1060.6 kb | Distal (>10kb) Multiome HiCAR | 66 |
Genomic view of the SORL1 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.