The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for AAAS. 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 = AAAS 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 AAAS, 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 |
|---|---|---|---|---|
| chr12:53,046,385–53,049,295 | 274.2 kb | Distal (>10kb) Multiome | 793 | |
| chr12:53,049,465–53,050,530 | 271.7 kb | Distal (>10kb) Multiome | 565 | |
| chr12:53,053,508–53,054,860 | 267.2 kb | Distal (>10kb) Multiome | 646 | |
| chr12:53,078,790–53,079,991 | 242.2 kb | Distal (>10kb) Multiome | 835 | |
| chr12:53,097,544–53,098,160 | 223.9 kb | Distal (>10kb) Multiome | 515 | |
| chr12:53,174,900–53,175,484 | 146.3 kb | Distal (>10kb) Multiome | 474 | |
| chr12:53,179,987–53,181,456 | 140.9 kb | Distal (>10kb) Multiome | 930 | |
| chr12:53,219,787–53,222,151 | 100.5 kb | Distal (>10kb) Multiome | 828 | |
| chr12:53,231,703–53,233,098 | 89.3 kb | Distal (>10kb) Multiome | 464 | |
| chr12:53,251,461–53,252,566 | 69.6 kb | Distal (>10kb) Multiome | 825 | |
| chr12:53,268,046–53,268,600 | 53.3 kb | Distal (>10kb) Multiome | 709 | |
| chr12:53,295,142–53,295,823 | 26.1 kb | Distal (>10kb) Multiome | 706 | |
| chr12:53,299,515–53,300,187 | 21.9 kb | Distal (>10kb) Multiome | 849 | |
| chr12:53,321,051–53,322,029 | 128 bp | At TSS Multiome | 935 | |
| chr12:53,324,682–53,326,037 | 3.4 kb | Proximal (<10kb) Multiome | 840 | |
| chr12:53,328,079–53,328,273 | 6.8 kb | Proximal (<10kb) | 52 | |
| chr12:53,344,427–53,345,660 | 23.4 kb | Distal (>10kb) Multiome HiCAR | 645 | |
| chr12:53,370,910–53,371,893 | 49.8 kb | Distal (>10kb) Multiome | 861 | |
| chr12:53,378,839–53,381,297 | 59.0 kb | Distal (>10kb) Multiome | 895 | |
| chr12:53,381,689–53,382,262 | 60.5 kb | Distal (>10kb) Multiome | 264 | |
| chr12:53,421,253–53,422,044 | 100.0 kb | Distal (>10kb) Multiome HiCAR | 431 | |
| chr12:53,440,979–53,441,838 | 120.0 kb | Distal (>10kb) Multiome | 779 | |
| chr12:53,451,563–53,453,067 | 130.4 kb | Distal (>10kb) Multiome | 999 | |
| chr12:53,492,147–53,494,149 | 171.5 kb | Distal (>10kb) Multiome HiCAR | 702 | |
| chr12:53,498,714–53,500,111 | 177.9 kb | Distal (>10kb) Multiome HiCAR | 454 | |
| chr12:53,500,242–53,501,839 | 179.4 kb | Distal (>10kb) Multiome HiCAR | 1010 |
Genomic view of the AAAS 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.