Fig. 6: Monogenic disorders related to cell types.
a, Cell type correlation based on the expression levels of highly expressed genes (z-score > 0.75) specific to each of the 129 cell types using Euclidean distance. b, Correlations between seven cell lineages and ten disorder domains. Dot size represents log2(OR) values; the color represents the significant levels of a two-sided Fisher’s test. c, Expression level of nine epithelium-specific skin disorder genes in different cell lineages. The star above the violin represents a significant expression difference between this cell lineage and epithelial cells based on a two-sided Wilcoxon rank-sum test. The central band in the box plot represents the median, the box boundaries represent the 25% to 75% percentiles, and the whiskers extend 1.5 times the IQR. d, Expression levels of nine epithelium-specific skin disorder genes in different epithelial cell types. Dot size represents log10 counts per million (CPM) values and the color represents the z-score of genes in each cell type. e, Putative cellular communication between epithelial cells and other cell types implicating skin disorder genes. Cell types (inner color) in different tissues (outer color) are connected by putative interactions (dotted lines) between a ligand (left square) expressed in one epithelial cell and a receptor (right square) expressed in the other cell types. Bold italic indicates a skin-disorder-related gene. f, The expression distribution of LAMA3 in the placenta primarily occurs in UTCs; it is associated with the skin disorder EB. g, Reclustering and trajectory analysis of UTCs in the placenta. The distribution of LAMA3 expression (log10(CPM)) in different cell subtypes through the trajectory line is shown. h, Putative cellular communication between UTC subtypes and other cell types in the placenta. i, Expression levels of muscle disorder genes in different muscle cell types. j, Expression distribution of MYBPC1 in the esophagus. k, Reclustering and trajectory analysis of SMCs in the esophagus. The distribution of MYBPC1 expression (log10(CPM)) in different cell subtypes through the trajectory line is shown.
