This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
Transcription factors with Perturb-seq knockdown data for SASH1. 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 = SASH1 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 SASH1, 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 |
|---|---|---|---|---|
| chr6:148,341,969–148,343,662 | 116 bp | At TSS Multiome | 830 | |
| chr6:148,346,965–148,349,179 | 4.1 kb | Proximal (<10kb) | 267 | |
| chr6:148,559,643–148,560,385 | 217.2 kb | Distal (>10kb) Multiome | 610 | |
| chr6:148,578,251–148,578,701 | 235.6 kb | Distal (>10kb) Multiome | 348 | |
| chr6:148,599,951–148,600,589 | 257.3 kb | Distal (>10kb) Multiome | 183 |
Genomic view of the SASH1 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.