This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for CFTR. 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 = CFTR 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 CFTR, 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 |
|---|---|---|---|---|
| chr7:117,322,289–117,325,322 | 155.6 kb | Distal (>10kb) Multiome | 391 | |
| chr7:117,478,671–117,480,364 | 208 bp | At TSS Multiome | 382 | |
| chr7:117,481,116–117,481,264 | 1.1 kb | Proximal (<10kb) | 28 | |
| chr7:117,683,194–117,683,770 | 5.9 kb | Proximal (<10kb) | 92 | |
| chr7:117,686,018–117,686,950 | 2.8 kb | Proximal (<10kb) | 94 | |
| chr7:117,689,231–117,690,096 | at TSS | At TSS | 58 |
Genomic view of the CFTR 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.