The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for VPS26C. 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 = VPS26C 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 VPS26C, 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 |
|---|---|---|---|---|
| chr21:36,989,570–36,990,911 | 277.9 kb | Distal (>10kb) Multiome | 1026 | |
| chr21:37,006,026–37,007,215 | 261.3 kb | Distal (>10kb) Multiome | 280 | |
| chr21:37,041,546–37,042,235 | 225.9 kb | Distal (>10kb) Multiome | 119 | |
| chr21:37,072,329–37,074,488 | 194.8 kb | Distal (>10kb) Multiome | 994 | |
| chr21:37,220,678–37,221,494 | 46.7 kb | Distal (>10kb) Multiome | 881 | |
| chr21:37,257,305–37,258,840 | 9.8 kb | Proximal (<10kb) Multiome | 787 | |
| chr21:37,266,801–37,268,388 | 347 bp | At TSS Multiome | 1079 | |
| chr21:37,365,724–37,368,330 | 98.6 kb | Distal (>10kb) Multiome | 938 | |
| chr21:37,563,444–37,565,351 | 296.0 kb | Distal (>10kb) Multiome | 839 |
Genomic view of the VPS26C 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.