Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NBN. 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 = NBN 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 NBN, 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 |
|---|---|---|---|---|
| chr8:89,735,590–89,737,765 | 248.6 kb | Distal (>10kb) Multiome | 299 | |
| chr8:89,757,049–89,758,721 | 227.0 kb | Distal (>10kb) Multiome | 975 | |
| chr8:89,901,706–89,903,339 | 82.2 kb | Distal (>10kb) Multiome HiCAR | 906 | |
| chr8:89,983,654–89,985,025 | 258 bp | At TSS Multiome | 1128 | |
| chr8:89,992,539–89,993,861 | 8.3 kb | Proximal (<10kb) Multiome | 132 | |
| chr8:90,000,653–90,002,462 | 16.6 kb | Distal (>10kb) Multiome | 917 | |
| chr8:90,081,366–90,083,237 | 98.1 kb | Distal (>10kb) Multiome | 562 | |
| chr8:90,203,329–90,204,017 | 219.0 kb | Distal (>10kb) Multiome | 129 | |
| chr8:90,644,726–90,647,850 | 661.5 kb | Distal (>10kb) Multiome HiCAR | 987 | |
| chr8:91,040,121–91,041,552 | 1056.2 kb | Distal (>10kb) Multiome HiCAR | 777 |
Genomic view of the NBN 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.