Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ACVR1. 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 = ACVR1 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 ACVR1, 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 |
|---|---|---|---|---|
| chr2:157,627,920–157,629,637 | 246.9 kb | Distal (>10kb) Multiome | 670 | |
| chr2:157,838,590–157,839,785 | 36.6 kb | Distal (>10kb) Multiome | 639 | |
| chr2:157,872,304–157,872,514 | 3.3 kb | Proximal (<10kb) | 3 | |
| chr2:157,875,253–157,877,212 | 540 bp | At TSS Multiome | 825 | |
| chr2:157,932,333–157,934,074 | 57.1 kb | Distal (>10kb) Multiome | 348 | |
| chr2:157,937,889–157,939,211 | 62.5 kb | Distal (>10kb) Multiome | 350 | |
| chr2:158,011,047–158,011,661 | 135.5 kb | Distal (>10kb) Multiome | 194 |
Genomic view of the ACVR1 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.