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. 2019 Aug 1;10:3465. doi: 10.1038/s41467-019-11431-2

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — Predicted gene deleteriousness in humans. a Mouse lethal genes⁵¹ and the top 10% of mutants with the largest neuroanatomical abnormalities are compared to the bottom 10% and to randomly permuted sets of these genes. The dN/dS ratio examines selection pressures by comparing the rate of synonymous and non-synonymous substitutions. b, c Comparison of the gene properties of the human orthologs of lethal genes⁵¹ and of the top 10% of mutants with the largest neuroanatomical abnormalities as compared to genes in the bottom 10% and to randomly permuted sets of these genes. s_het (Selection coefficient associated with the loss of heterozygosity), RVIS (Residual Variation Intolerance Score), and pLI (probability of being Loss of function Intolerant) are all indicators of purifying selection pressure, while HIS are predicted HaploInsufficiency Scores (Supplementary Notes). d The overlap between gene sets from A and B with MIM Morbid Map genes. e Enrichments of intellectual disability-associated genes from three independent publications and developmental disorder-associated genes (Supplementary Notes) among human orthologs of NeuroAnatomical Phenotype (NAP) genes compared to human orthologs of non-NAP. *0.05 < p < 0.01; **0.01 < p < 0.001; ***p < 0.001 (right-tailed Mann–Whitney U test for a–d and right-tailed Fisher’s test for e)