The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for GLRA1. 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 = GLRA1 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 GLRA1, 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 |
|---|---|---|---|---|
| chr5:151,658,968–151,659,631 | 265.7 kb | Distal (>10kb) Multiome | 335 | |
| chr5:151,684,706–151,685,487 | 239.8 kb | Distal (>10kb) Multiome | 323 | |
| chr5:151,686,404–151,687,445 | 237.9 kb | Distal (>10kb) Multiome | 314 | |
| chr5:151,740,170–151,741,128 | 184.2 kb | Distal (>10kb) Multiome | 315 | |
| chr5:151,757,903–151,759,332 | 166.1 kb | Distal (>10kb) Multiome | 766 | |
| chr5:151,770,363–151,773,120 | 153.2 kb | Distal (>10kb) Multiome | 1055 | |
| chr5:151,902,932–151,903,823 | 21.4 kb | Distal (>10kb) Multiome | 181 | |
| chr5:151,923,957–151,925,358 | at TSS | At TSS | 935 | |
| chr5:152,051,788–152,052,791 | 127.4 kb | Distal (>10kb) Multiome | 165 |
Genomic view of the GLRA1 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.