This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for ASXL1. 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 = ASXL1 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 ASXL1, 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 |
|---|---|---|---|---|
| chr20:32,109,321–32,110,237 | 248.6 kb | Distal (>10kb) Multiome | 1073 | |
| chr20:32,189,679–32,190,832 | 168.0 kb | Distal (>10kb) Multiome | 290 | |
| chr20:32,207,261–32,208,118 | 150.5 kb | Distal (>10kb) Multiome | 903 | |
| chr20:32,277,439–32,278,095 | 80.7 kb | Distal (>10kb) Multiome | 804 | |
| chr20:32,357,509–32,359,534 | 977 bp | At TSS Multiome | 1138 | |
| chr20:32,456,960–32,457,933 | 99.1 kb | Distal (>10kb) Multiome | 407 | |
| chr20:32,482,216–32,484,943 | 125.4 kb | Distal (>10kb) Multiome | 976 | |
| chr20:32,521,770–32,522,231 | 163.6 kb | Distal (>10kb) Multiome | 550 | |
| chr20:32,535,878–32,537,141 | 178.3 kb | Distal (>10kb) Multiome | 665 | |
| chr20:32,582,894–32,585,976 | 225.0 kb | Distal (>10kb) Multiome | 755 |
Genomic view of the ASXL1 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.