This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Transcription factors with Perturb-seq knockdown data for CFAP251. 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 = CFAP251 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 CFAP251, 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 |
|---|---|---|---|---|
| chr12:121,625,878–121,627,559 | 292.1 kb | Distal (>10kb) Multiome | 904 | |
| chr12:121,671,731–121,673,334 | 246.0 kb | Distal (>10kb) Multiome | 548 | |
| chr12:121,686,676–121,687,782 | 231.5 kb | Distal (>10kb) Multiome | 907 | |
| chr12:121,712,130–121,713,412 | 205.8 kb | Distal (>10kb) Multiome | 731 | |
| chr12:121,792,642–121,795,650 | 124.5 kb | Distal (>10kb) Multiome | 1009 | |
| chr12:121,797,071–121,801,369 | 120.0 kb | Distal (>10kb) Multiome | 1126 | |
| chr12:121,802,658–121,804,393 | 115.5 kb | Distal (>10kb) Multiome | 825 | |
| chr12:121,812,380–121,813,114 | 106.2 kb | Distal (>10kb) Multiome | 458 | |
| chr12:121,839,137–121,840,260 | 79.0 kb | Distal (>10kb) Multiome | 564 | |
| chr12:121,888,344–121,889,335 | 29.8 kb | Distal (>10kb) Multiome | 1141 | |
| chr12:121,918,184–121,919,001 | 1 bp | At TSS Multiome | 407 | |
| chr12:122,021,348–122,022,698 | 103.4 kb | Distal (>10kb) Multiome | 537 | |
| chr12:122,063,787–122,064,537 | 145.6 kb | Distal (>10kb) Multiome | 742 | |
| chr12:122,078,081–122,079,394 | 160.1 kb | Distal (>10kb) Multiome | 952 | |
| chr12:122,097,641–122,098,611 | 179.5 kb | Distal (>10kb) Multiome | 462 | |
| chr12:122,155,564–122,156,340 | 237.4 kb | Distal (>10kb) Multiome | 197 | |
| chr12:122,182,856–122,183,527 | 264.6 kb | Distal (>10kb) Multiome | 228 | |
| chr12:122,203,186–122,204,669 | 285.1 kb | Distal (>10kb) Multiome | 500 |
Genomic view of the CFAP251 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.