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Fig. 6 | Genome Medicine

Fig. 6

From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Fig. 6

HNRNP expression in adult and developing fetal cortex tissues. a Heatmap showing transcript-level expression values for NDD hnRNPs for adult brain tissues in GTEx. All tissues are shown in Fig. S4, and p values among individual HNRNPs are shown in Table S3. b Heatmap showing fold change of expression of each NDD HNRNP among 48 different cell types in the developing fetal cortex. Blue indicates increase in fold change of expression and red indicates decreased expression, as determined by Z-scores. NDD HNRNPs have higher fold expression change in MGE progenitors, radial glia, and excitatory neurons, while depleted in inhibitory neurons. All HNRNPs are shown in Fig. S3. Significance indicates enrichment in particular cell types by Wilcoxon ranked sum test with Bonferroni correction based on number of cell types. P values and fold change for scRNA data from developing human cortex can be seen in Tables S4 and S5. c Correlation plot of developing fetal cortex gene expression. Pearson correlation R values are shown in the bottom half of the plot, which are visually in the top half of the plot. P values were corrected by number of genes [23] and number of cell types [48]. HNRNPs in the same homology group tend to have more correlated expression. d Specific brain region enrichment as determined by SEA, showing enrichment of expression of the NDD HNRNPs in the early fetal striatum and early-mid fetal amygdala. *p < 0.05; **p < 0.01; ***p < 0.001, ****p < 0.0001

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