This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for NOTCH1. 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 = NOTCH1 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 NOTCH1, 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 |
|---|---|---|---|---|
| chr9:136,245,219–136,246,310 | 300.2 kb | Distal (>10kb) Multiome | 608 | |
| chr9:136,267,002–136,267,928 | 278.7 kb | Distal (>10kb) Multiome | 459 | |
| chr9:136,327,140–136,327,919 | 218.5 kb | Distal (>10kb) Multiome | 310 | |
| chr9:136,342,464–136,343,245 | 203.1 kb | Distal (>10kb) Multiome | 326 | |
| chr9:136,362,899–136,364,677 | 182.7 kb | Distal (>10kb) Multiome | 969 | |
| chr9:136,399,639–136,400,642 | 145.8 kb | Distal (>10kb) Multiome | 776 | |
| chr9:136,410,307–136,410,943 | 135.4 kb | Distal (>10kb) Multiome | 740 | |
| chr9:136,438,826–136,440,227 | 106.2 kb | Distal (>10kb) Multiome | 608 | |
| chr9:136,482,405–136,485,297 | 62.7 kb | Distal (>10kb) Multiome HiCAR | 938 | |
| chr9:136,544,478–136,544,971 | 1.1 kb | Proximal (<10kb) | 299 | |
| chr9:136,545,392–136,547,129 | 78 bp | At TSS Multiome | 710 | |
| chr9:136,572,053–136,572,865 | 26.3 kb | Distal (>10kb) Multiome | 239 | |
| chr9:136,587,135–136,588,835 | 42.3 kb | Distal (>10kb) Multiome | 453 | |
| chr9:136,626,479–136,627,366 | 80.9 kb | Distal (>10kb) Multiome HiCAR | 451 | |
| chr9:136,665,223–136,666,507 | 119.8 kb | Distal (>10kb) Multiome | 409 | |
| chr9:136,686,875–136,688,079 | 141.4 kb | Distal (>10kb) Multiome | 610 | |
| chr9:136,711,795–136,713,743 | 166.4 kb | Distal (>10kb) Multiome | 459 | |
| chr9:136,727,616–136,729,079 | 182.2 kb | Distal (>10kb) Multiome | 1013 | |
| chr9:136,762,846–136,763,902 | 217.2 kb | Distal (>10kb) Multiome | 271 | |
| chr9:136,788,889–136,789,680 | 243.3 kb | Distal (>10kb) Multiome | 351 | |
| chr9:136,790,433–136,792,285 | 245.0 kb | Distal (>10kb) Multiome | 864 | |
| chr9:136,798,823–136,801,421 | 255.3 kb | Distal (>10kb) Multiome | 874 | |
| chr9:136,807,251–136,808,764 | 261.8 kb | Distal (>10kb) Multiome | 714 | |
| chr9:136,842,325–136,842,872 | 296.5 kb | Distal (>10kb) Multiome | 492 |
Genomic view of the NOTCH1 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.