This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NOTCH3. 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 = NOTCH3 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 NOTCH3, 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 |
|---|---|---|---|---|
| chr19:14,979,199–14,980,219 | 221.2 kb | Distal (>10kb) Multiome | 147 | |
| chr19:15,010,607–15,011,356 | 190.0 kb | Distal (>10kb) Multiome | 122 | |
| chr19:15,073,077–15,073,718 | 127.6 kb | Distal (>10kb) Multiome | 204 | |
| chr19:15,106,942–15,107,576 | 93.7 kb | Distal (>10kb) Multiome | 339 | |
| chr19:15,113,323–15,113,828 | 87.4 kb | Distal (>10kb) Multiome | 116 | |
| chr19:15,124,546–15,126,107 | 75.3 kb | Distal (>10kb) Multiome | 949 | |
| chr19:15,177,520–15,178,026 | 23.3 kb | Distal (>10kb) Multiome | 499 | |
| chr19:15,180,886–15,181,623 | 19.8 kb | Distal (>10kb) Multiome | 355 | |
| chr19:15,195,187–15,196,375 | 4.9 kb | Proximal (<10kb) Multiome | 408 | |
| chr19:15,199,629–15,201,437 | 915 bp | At TSS Multiome | 398 | |
| chr19:15,222,727–15,224,168 | 22.5 kb | Distal (>10kb) Multiome | 521 | |
| chr19:15,231,632–15,233,858 | 32.2 kb | Distal (>10kb) Multiome | 414 | |
| chr19:15,324,741–15,325,392 | 124.0 kb | Distal (>10kb) Multiome | 183 | |
| chr19:15,331,471–15,332,992 | 131.5 kb | Distal (>10kb) Multiome | 641 | |
| chr19:15,378,833–15,380,802 | 178.9 kb | Distal (>10kb) Multiome | 913 | |
| chr19:15,418,493–15,419,441 | 218.2 kb | Distal (>10kb) Multiome | 892 | |
| chr19:15,432,448–15,433,787 | 231.9 kb | Distal (>10kb) Multiome | 766 | |
| chr19:15,449,146–15,450,281 | 248.9 kb | Distal (>10kb) Multiome | 446 | |
| chr19:15,451,962–15,453,427 | 251.5 kb | Distal (>10kb) Multiome | 428 | |
| chr19:15,456,680–15,457,763 | 256.2 kb | Distal (>10kb) Multiome | 240 |
Genomic view of the NOTCH3 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.