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. 2022 Oct 26;1(5):pgac243. doi: 10.1093/pnasnexus/pgac243

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© The Author(s) 2022. Published by Oxford University Press on behalf of the National Academy of Sciences.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 3. — SDV genes are associated with increased constraint. (A) A total of 14 out of 20 tested tissues with at least 20 SDV genes show a depletion in eGenes among SDV genes. Significance was tested using Fisher’s exact test at FDR < 0.05. (B) Across the 20 tested tissues, the median fold enrichment of eGenes is significantly lower than expected by chance. The red line shows the observed median fold-enrichment, while the blue distribution shows the empirical null distribution. (C) Genes with SDV expression in at least one tissue show significantly elevated mean phastCons scores in proximal promoters (100 bp upstream of TSS) indicating increased conservation. (D) Genes with SDV expression in at least one tissue show significantly increased LINSIGHT scores, indicating greater functional importance. (E) Genes with SDV expression in at least one tissue show significantly reduced LOEUF scores, indicating more intolerance to loss of function mutations. For (C)–(E), SDV genes were considered to be SDV if they showed SDV expression in at least one tissue out of the 20 tested tissues. Only genes expressed in all 20 tested tissues were considered to remove bias. For (C)–(E), P-values were calculated using the Mann–Whitney U test.