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Fig. 3 | Genome Medicine

Fig. 3

From: Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Fig. 3

Established NDD disease genes are brain expressed and under evolutionary constraint. Every dot represents a gene of the 43 DNM enriched gene families. The colors of the box and font represent the number of DNMs (N.DNM) identified in the gene in 10,668 NDD trios. y-axis: brain gene expression level in RPKM derived from the GTEx expression dataset; x-axis: gene constraint scores (left: pLI, indicating gene LoF intolerance; right: missense z-score, indicating gene missense intolerance). Disease-associated DNMs are likely to affect brain-expressed and evolutionary constrained genes (defined as brain expression RPKM > 1, constraint score pLI ≥ 0.9 and missense z-score > 3.09; green boxes). In support of this hypothesis, we observe that all previously known and frequently mutated genes are brain expressed and under evolutionary constraint

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