This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for GNAS-AS1. 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 = GNAS-AS1 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 GNAS-AS1, 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 |
|---|---|---|---|---|
| chr20:58,482,394–58,483,281 | 368.2 kb | Distal (>10kb) Multiome HiCAR | 155 | |
| chr20:58,649,950–58,652,788 | 199.8 kb | Distal (>10kb) Multiome | 1208 | |
| chr20:58,669,288–58,669,967 | 181.2 kb | Distal (>10kb) Multiome HiCAR | 158 | |
| chr20:58,692,413–58,693,477 | 158.1 kb | Distal (>10kb) Multiome | 317 | |
| chr20:58,850,471–58,851,960 | 70 bp | At TSS Multiome | 308 | |
| chr20:58,852,406–58,852,990 | 1.9 kb | Proximal (<10kb) Multiome | 172 | |
| chr20:58,888,196–58,892,842 | 38.1 kb | Distal (>10kb) Multiome | 977 | |
| chr20:58,980,774–58,981,785 | 130.4 kb | Distal (>10kb) Multiome | 797 | |
| chr20:59,006,785–59,007,608 | 156.4 kb | Distal (>10kb) Multiome | 401 | |
| chr20:59,031,825–59,033,029 | 181.6 kb | Distal (>10kb) Multiome | 1108 | |
| chr20:59,042,196–59,043,527 | 192.0 kb | Distal (>10kb) Multiome | 834 | |
| chr20:59,222,192–59,223,002 | 371.8 kb | Distal (>10kb) Multiome HiCAR | 395 | |
| chr20:59,403,591–59,404,046 | 553.0 kb | Distal (>10kb) Multiome HiCAR | 434 |
Genomic view of the GNAS-AS1 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.