This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
Transcription factors with Perturb-seq knockdown data for GDF6. 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 = GDF6 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 GDF6, 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 |
|---|---|---|---|---|
| chr8:96,153,052–96,153,642 | 7.2 kb | Proximal (<10kb) | 31 | |
| chr8:96,153,788–96,155,013 | 5.8 kb | Proximal (<10kb) | 147 | |
| chr8:96,155,099–96,155,253 | 5.6 kb | Proximal (<10kb) | 51 | |
| chr8:96,157,542–96,159,094 | 1.7 kb | Proximal (<10kb) | 98 | |
| chr8:96,159,549–96,160,042 | 763 bp | At TSS | 71 | |
| chr8:96,160,183–96,162,079 | at TSS | At TSS | 394 | |
| chr8:96,164,428–96,164,610 | 3.6 kb | Proximal (<10kb) | 125 |
Genomic view of the GDF6 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.