Fig. 3: CNV gene dosage sensitivity predicts spatial coupling of gene expression brain anatomy. | Nature Communications

Fig. 3: CNV gene dosage sensitivity predicts spatial coupling of gene expression brain anatomy.

From: Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders

Fig. 3

a Top dosage-sensitive (DS) genes in brain tissue and blood-derived lymphoblastoid cell lines (LCLs) from CNV carriers (brain: +21. LCLs: +21,+X, −X, see “Methods”). b Raincloud plots showing the different distributions of ranks for DS and non-DS (nDS) genes (N genes per DS/nDS set provided in Supplementary Dataset 5). Boxplots show the median, interquartile range (IQR), and whiskers (1.5× IQR). Neighboring barplots show decile-specific differences in proportions of DS vs. nDS genes. The statistically significant (*, PRAND < 0.05) median rank differences between DS and nDS gene sets are driven by a subset of DS genes (DSSS), which are significantly enriched at extreme ranks. c DSSS gene names highlighted from the DS gene set. d Spatial correlations between DSSS−nDS differential gene expression and both regional PLS scores and regional MS change for each CNV. Colors represent high (blue) and low (red) rank. All permuted P values were not further corrected for multiple comparisons, and were determined based on one-sided tests of gene set enrichment (median rank; see “Methods”).

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