This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DNASE1. 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 = DNASE1 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 DNASE1, 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 |
|---|---|---|---|---|
| chr16:3,400,631–3,401,665 | 210.6 kb | Distal (>10kb) Multiome | 927 | |
| chr16:3,457,535–3,458,643 | 153.8 kb | Distal (>10kb) Multiome | 954 | |
| chr16:3,500,701–3,501,337 | 110.8 kb | Distal (>10kb) Multiome | 953 | |
| chr16:3,610,900–3,612,357 | 78 bp | At TSS Multiome | 733 | |
| chr16:3,654,171–3,654,861 | 42.8 kb | Distal (>10kb) Multiome | 445 | |
| chr16:3,716,849–3,718,043 | 105.8 kb | Distal (>10kb) Multiome | 839 | |
| chr16:3,879,373–3,881,582 | 269.2 kb | Distal (>10kb) Multiome | 727 |
Genomic view of the DNASE1 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.