This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for FLCN. 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 = FLCN 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 FLCN, 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 |
|---|---|---|---|---|
| chr17:16,940,084–16,940,897 | 296.6 kb | Distal (>10kb) Multiome | 82 | |
| chr17:17,041,875–17,042,877 | 194.9 kb | Distal (>10kb) Multiome | 589 | |
| chr17:17,079,384–17,079,899 | 157.6 kb | Distal (>10kb) Multiome | 78 | |
| chr17:17,236,752–17,237,798 | 155 bp | At TSS Multiome | 841 | |
| chr17:17,280,620–17,281,467 | 43.9 kb | Distal (>10kb) Multiome | 835 | |
| chr17:17,300,712–17,301,575 | 64.0 kb | Distal (>10kb) Multiome | 301 | |
| chr17:17,303,177–17,303,990 | 66.3 kb | Distal (>10kb) Multiome | 535 | |
| chr17:17,476,268–17,477,427 | 239.8 kb | Distal (>10kb) Multiome | 720 | |
| chr17:17,494,918–17,497,329 | 259.3 kb | Distal (>10kb) Multiome | 704 |
Genomic view of the FLCN 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.