Extended Data Fig. 7: Expression of family members of disrupted transcription factor binding motifs in critical region. | Nature Genetics

Extended Data Fig. 7: Expression of family members of disrupted transcription factor binding motifs in critical region.

From: Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Extended Data Fig. 7

NFAT family, NKX2-2 and FOXA2: a) In single-cell RNA-seq in human islets (GSE101207)30, boxplots of mean normalised counts from independent islet donors in cells assigned to islet cell type clusters (data shown as in Extended Data Fig. 3e). Data points from independent human donors, the central lines in the boxplots correspond to the median, boxes span from interquartile range, and whiskers extend to the furthest data point within 1.5x IQR from the boxes. b) Over the course of pancreatic differentiation from embryonic stem cells to maturing beta-cells, expression data over a beta-cell differentiation psuedotime19, Gaussian process regression median and 95% CI shown. ES – embryonic stem cell, DE – definitive endoderm, GT – gut tube, FG – foregut, PE – pancreatic endoderm, EP – endocrine precursors, IB – immature beta-cells, MB – maturing beta-cells. c) scRNA-seq across alpha and beta-cell maturation, all data quantified by (GSE167880)20, which quantified their own data over maturation and adult endocrine cells (GSE114297)31.

Back to article page