The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SALL1. 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 = SALL1 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 SALL1, 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 |
|---|---|---|---|---|
| chr16:50,879,714–50,880,313 | 272.3 kb | Distal (>10kb) Multiome | 122 | |
| chr16:51,084,468–51,084,991 | 67.6 kb | Distal (>10kb) Multiome | 58 | |
| chr16:51,134,148–51,134,876 | 17.8 kb | Distal (>10kb) Multiome | 214 | |
| chr16:51,151,063–51,154,044 | 83 bp | At TSS Multiome | 698 | |
| chr16:51,154,163–51,156,635 | 3.4 kb | Proximal (<10kb) Multiome | 291 | |
| chr16:51,181,227–51,181,733 | 29.2 kb | Distal (>10kb) Multiome | 70 | |
| chr16:51,235,639–51,238,534 | 83.9 kb | Distal (>10kb) Multiome | 310 | |
| chr16:51,391,732–51,393,055 | 239.9 kb | Distal (>10kb) Multiome | 190 | |
| chr16:51,449,102–51,449,934 | 297.2 kb | Distal (>10kb) Multiome | 110 | |
| chr16:51,545,603–51,546,571 | 393.9 kb | Distal (>10kb) Multiome HiCAR | 67 |
Genomic view of the SALL1 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.