This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NF1. 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 = NF1 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 NF1, 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 |
|---|---|---|---|---|
| chr17:30,824,074–30,825,310 | 270.5 kb | Distal (>10kb) Multiome | 868 | |
| chr17:30,831,761–30,832,403 | 263.2 kb | Distal (>10kb) Multiome | 803 | |
| chr17:30,906,142–30,906,858 | 188.8 kb | Distal (>10kb) Multiome | 1033 | |
| chr17:30,921,825–30,922,307 | 173.1 kb | Distal (>10kb) Multiome | 262 | |
| chr17:30,970,780–30,971,531 | 124.1 kb | Distal (>10kb) Multiome | 537 | |
| chr17:31,008,384–31,008,968 | 86.6 kb | Distal (>10kb) Multiome | 415 | |
| chr17:31,094,330–31,095,946 | 348 bp | At TSS Multiome | 759 | |
| chr17:31,391,064–31,392,079 | 296.4 kb | Distal (>10kb) Multiome | 148 |
Genomic view of the NF1 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.