This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for AUTS2. 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 = AUTS2 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 AUTS2, 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 |
|---|---|---|---|---|
| chr7:70,561,514–70,562,097 | 132.3 kb | Distal (>10kb) Multiome HiCAR | 15 | |
| chr7:70,595,832–70,596,503 | 97.9 kb | Distal (>10kb) Multiome | 267 | |
| chr7:70,631,725–70,632,347 | 62.1 kb | Distal (>10kb) Multiome | 66 | |
| chr7:70,673,843–70,674,883 | 19.6 kb | Distal (>10kb) Multiome | 86 | |
| chr7:70,693,466–70,695,438 | 44 bp | At TSS Multiome | 450 | |
| chr7:70,700,039–70,700,305 | 6.0 kb | Proximal (<10kb) | 70 | |
| chr7:70,700,412–70,700,894 | 6.4 kb | Proximal (<10kb) Multiome | 133 | |
| chr7:70,701,004–70,701,338 | 6.9 kb | Proximal (<10kb) | 96 | |
| chr7:70,728,794–70,729,305 | 35.0 kb | Distal (>10kb) Multiome | 213 | |
| chr7:70,951,381–70,951,908 | 257.5 kb | Distal (>10kb) Multiome | 26 |
Genomic view of the AUTS2 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.