Fig. 5: Genome-wide distribution of SMC1A in CdLS-derived cells.

a Heatmap showing the signal around all SMC1A peaks in control and CdLS patient 3-derived cells and its colocalization with CTCF and RAD21. b (left) Venn diagrams showing the overlap of genomic positions of SMC1A (dark blue) with CTCF (light red) and RAD21 (green) (up), SMC1A (dark blue) with NIPBL (light red) (bottom) or NIPBL (dark blue) with CTCF (light blue) and RAD21 (green) (right). b (right) Bam graph showing the mean signal of NIPBL (Control, black; Patient, red), SMC1A (Control, blue; Patient, orange), CTCF (green), and MNase (gray) around NIPBL peaks in control and CdLS patient 3-derived cells. c Heatmap comparing the signal in control and CdLS patient 3-derived cells around differential SMC1A peaks. Signals of SMC1A, NIPBL, CTCF, DNase, and MNase genomic distribution are depicted. The heatmap is divided into two categories, SMC1A peaks gained (pink) or lost (light blue) in the patient compared with the control. d Bam graphs showing mean signal of the indicated proteins around gained (left) and lost (right) SMC1A genomic positions. NIPBL (Control, black; Patient, red), SMC1A (Control, blue; Patient, orange), CTCF (green), DNase (brown), and MNase (gray). e Pie charts showing the overlap of gained (left) and lost (right) SMC1A peaks with NIPBL and CpG islands (CGI). NIPBL, green; NIPBL&CGI, red; no NIPBL, blue; no NIPBL&CGI, violet. f Plots of percentages of SMC1A gained and lost peaks overlapping with CpG islands (CGI, black), promoters (blue), enhancers (pink), and CTCF (green).