The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Transcription factors with Perturb-seq knockdown data for ATM. 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 = ATM 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 ATM, 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 |
|---|---|---|---|---|
| chr11:107,927,906–107,929,475 | 294.7 kb | Distal (>10kb) Multiome | 653 | |
| chr11:108,008,534–108,009,915 | 214.0 kb | Distal (>10kb) Multiome | 1031 | |
| chr11:108,121,137–108,122,070 | 101.5 kb | Distal (>10kb) Multiome | 878 | |
| chr11:108,219,058–108,219,457 | 3.3 kb | Proximal (<10kb) | 78 | |
| chr11:108,221,947–108,224,257 | 183 bp | At TSS Multiome | 939 | |
| chr11:108,467,108–108,468,105 | 244.5 kb | Distal (>10kb) Multiome | 756 | |
| chr11:108,497,307–108,498,913 | 274.8 kb | Distal (>10kb) Multiome | 959 | |
| chr11:108,664,315–108,665,549 | 442.0 kb | Distal (>10kb) Multiome HiCAR | 672 |
Genomic view of the ATM 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.