The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Transcription factors with Perturb-seq knockdown data for TGFBR1. 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 = TGFBR1 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 TGFBR1, 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 |
|---|---|---|---|---|
| chr9:98,807,121–98,808,181 | 297.5 kb | Distal (>10kb) Multiome | 366 | |
| chr9:98,848,233–98,848,856 | 256.5 kb | Distal (>10kb) Multiome HiCAR | 494 | |
| chr9:98,850,508–98,851,258 | 254.2 kb | Distal (>10kb) Multiome | 114 | |
| chr9:98,943,613–98,944,680 | 161.1 kb | Distal (>10kb) Multiome | 250 | |
| chr9:98,974,780–98,975,407 | 130.0 kb | Distal (>10kb) Multiome | 363 | |
| chr9:98,998,541–98,999,328 | 106.1 kb | Distal (>10kb) Multiome | 303 | |
| chr9:99,104,286–99,106,069 | 136 bp | At TSS Multiome | 701 | |
| chr9:99,184,218–99,185,128 | 79.6 kb | Distal (>10kb) Multiome | 374 | |
| chr9:99,221,253–99,222,741 | 116.9 kb | Distal (>10kb) Multiome | 903 |
Genomic view of the TGFBR1 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.