This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for FIP1L1. 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 = FIP1L1 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 FIP1L1, 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 |
|---|---|---|---|---|
| chr4:53,365,264–53,366,406 | 11.6 kb | Distal (>10kb) Multiome | 747 | |
| chr4:53,375,113–53,375,690 | 2.0 kb | Proximal (<10kb) | 13 | |
| chr4:53,377,268–53,378,213 | 30 bp | At TSS Multiome | 790 | |
| chr4:53,590,980–53,591,877 | 213.9 kb | Distal (>10kb) Multiome | 299 | |
| chr4:53,592,736–53,593,436 | 215.4 kb | Distal (>10kb) Multiome | 333 | |
| chr4:54,226,597–54,228,751 | 849.3 kb | Distal (>10kb) Multiome HiCAR | 426 | |
| chr4:54,229,771–54,234,753 | 855.5 kb | Distal (>10kb) Multiome HiCAR | 713 |
Genomic view of the FIP1L1 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.