This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for AASS. 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 = AASS 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 AASS, 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 |
|---|---|---|---|---|
| chr7:121,872,464–121,874,098 | 271.1 kb | Distal (>10kb) Multiome | 428 | |
| chr7:121,936,364–121,937,841 | 207.4 kb | Distal (>10kb) Multiome | 148 | |
| chr7:121,938,241–121,939,440 | 205.6 kb | Distal (>10kb) Multiome | 264 | |
| chr7:122,143,073–122,145,002 | 17 bp | At TSS Multiome | 722 | |
| chr7:122,299,579–122,300,851 | 156.0 kb | Distal (>10kb) Multiome | 245 | |
| chr7:122,303,627–122,307,580 | 160.4 kb | Distal (>10kb) Multiome | 581 | |
| chr7:122,310,121–122,311,074 | 166.4 kb | Distal (>10kb) Multiome | 257 | |
| chr7:122,316,043–122,317,455 | 172.7 kb | Distal (>10kb) Multiome | 288 | |
| chr7:122,328,635–122,329,533 | 185.0 kb | Distal (>10kb) Multiome | 148 | |
| chr7:122,438,074–122,438,817 | 294.1 kb | Distal (>10kb) Multiome | 200 | |
| chr7:123,533,937–123,535,843 | 1390.6 kb | Distal (>10kb) Multiome HiCAR | 560 |
Genomic view of the AASS 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.