This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
Transcription factors with Perturb-seq knockdown data for ADA. 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 = ADA 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 ADA, 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 |
|---|---|---|---|---|
| chr20:44,475,692–44,476,318 | 175.9 kb | Distal (>10kb) Multiome | 962 | |
| chr20:44,521,574–44,522,457 | 129.7 kb | Distal (>10kb) Multiome | 937 | |
| chr20:44,523,577–44,525,342 | 126.8 kb | Distal (>10kb) Multiome | 231 | |
| chr20:44,531,682–44,532,180 | 119.8 kb | Distal (>10kb) Multiome | 880 | |
| chr20:44,609,775–44,610,281 | 41.6 kb | Distal (>10kb) Multiome | 727 | |
| chr20:44,642,246–44,643,140 | 9.1 kb | Proximal (<10kb) Multiome | 469 | |
| chr20:44,643,580–44,643,874 | 7.9 kb | Proximal (<10kb) | 177 | |
| chr20:44,651,099–44,652,334 | 86 bp | At TSS Multiome | 641 | |
| chr20:44,745,652–44,746,316 | 94.2 kb | Distal (>10kb) Multiome | 321 | |
| chr20:44,810,403–44,810,885 | 158.8 kb | Distal (>10kb) Multiome | 181 | |
| chr20:44,884,968–44,886,235 | 233.8 kb | Distal (>10kb) Multiome | 913 | |
| chr20:44,909,510–44,910,396 | 258.3 kb | Distal (>10kb) Multiome | 810 | |
| chr20:44,911,292–44,911,995 | 259.9 kb | Distal (>10kb) Multiome | 532 |
Genomic view of the ADA 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.