The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for ADSL. 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 = ADSL 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 ADSL, 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 |
|---|---|---|---|---|
| chr22:39,519,211–39,521,337 | 826.4 kb | Distal (>10kb) Multiome HiCAR | 1150 | |
| chr22:39,532,183–39,533,171 | 813.7 kb | Distal (>10kb) Multiome HiCAR | 799 | |
| chr22:39,534,113–39,535,455 | 811.6 kb | Distal (>10kb) Multiome HiCAR | 621 | |
| chr22:40,176,907–40,177,289 | 169.5 kb | Distal (>10kb) Multiome | 461 | |
| chr22:40,177,538–40,178,026 | 168.7 kb | Distal (>10kb) Multiome | 616 | |
| chr22:40,187,442–40,188,012 | 158.8 kb | Distal (>10kb) Multiome | 86 | |
| chr22:40,345,883–40,347,047 | 4 bp | At TSS Multiome | 955 | |
| chr22:40,370,270–40,371,111 | 24.1 kb | Distal (>10kb) Multiome | 630 | |
| chr22:40,478,729–40,479,485 | 132.7 kb | Distal (>10kb) Multiome | 123 | |
| chr22:40,636,029–40,637,455 | 290.3 kb | Distal (>10kb) Multiome | 903 |
Genomic view of the ADSL 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.