This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for GABBR1. 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 = GABBR1 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 GABBR1, 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 |
|---|---|---|---|---|
| chr6:29,553,228–29,554,065 | 79.5 kb | Distal (>10kb) Multiome | 287 | |
| chr6:29,627,173–29,629,312 | 4.3 kb | Proximal (<10kb) Multiome | 602 | |
| chr6:29,631,333–29,631,719 | 739 bp | At TSS | 197 | |
| chr6:29,632,128–29,633,755 | 9 bp | At TSS Multiome | 518 | |
| chr6:29,649,730–29,650,515 | 17.0 kb | Distal (>10kb) Multiome | 598 | |
| chr6:29,723,179–29,723,705 | 90.3 kb | Distal (>10kb) Multiome | 318 | |
| chr6:29,723,819–29,724,477 | 91.1 kb | Distal (>10kb) Multiome | 252 | |
| chr6:29,748,600–29,749,515 | 115.9 kb | Distal (>10kb) Multiome | 593 | |
| chr6:29,752,563–29,753,367 | 120.0 kb | Distal (>10kb) Multiome | 598 | |
| chr6:29,926,526–29,927,449 | 294.0 kb | Distal (>10kb) Multiome | 372 |
Genomic view of the GABBR1 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.