This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ADGRV1. 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 = ADGRV1 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 ADGRV1, 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 |
|---|---|---|---|---|
| chr5:90,408,713–90,410,622 | 148.9 kb | Distal (>10kb) Multiome | 999 | |
| chr5:90,473,267–90,475,425 | 84.1 kb | Distal (>10kb) Multiome | 1125 | |
| chr5:90,476,971–90,477,623 | 81.5 kb | Distal (>10kb) Multiome | 165 | |
| chr5:90,528,730–90,530,341 | 29.1 kb | Distal (>10kb) Multiome | 946 | |
| chr5:90,555,245–90,555,397 | 3.4 kb | Proximal (<10kb) | 2 | |
| chr5:90,555,662–90,555,907 | 2.9 kb | Proximal (<10kb) | 82 | |
| chr5:90,556,029–90,556,498 | 2.3 kb | Proximal (<10kb) | 16 | |
| chr5:90,557,410–90,557,747 | 1.0 kb | Proximal (<10kb) | 30 | |
| chr5:90,557,815–90,559,398 | 55 bp | At TSS Multiome | 611 | |
| chr5:90,562,355–90,562,667 | 3.6 kb | Proximal (<10kb) | 48 |
Genomic view of the ADGRV1 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.