This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for F8. 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 = F8 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 F8, 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 |
|---|---|---|---|---|
| chrX:154,762,385–154,763,339 | 264.2 kb | Distal (>10kb) Multiome | 675 | |
| chrX:154,805,199–154,805,850 | 221.4 kb | Distal (>10kb) Multiome | 481 | |
| chrX:155,026,631–155,027,442 | 8 bp | At TSS Multiome | 744 | |
| chrX:155,070,784–155,072,076 | 44.4 kb | Distal (>10kb) Multiome | 561 | |
| chrX:155,215,967–155,217,001 | 189.5 kb | Distal (>10kb) Multiome | 532 | |
| chrX:155,263,993–155,264,650 | 237.5 kb | Distal (>10kb) Multiome | 381 |
Genomic view of the F8 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.