Science Advances

Supplementary Materials

This PDF file includes:

  • section S1. Sequential convergence from variant to gene to pathway level
  • section S2. Autism genetic association dissected across multiple levels
  • section S3. Pathways of DN events, integrated molecular mechanism
  • section S4. Subpathway biology, coherent fine details
  • section S5. Superpathway biology, emergent big picture
  • fig. S1. Multilevel recurrence of de novo mutations in SSC study.
  • fig. S2. Autism genetic association analysis across variant, gene, and pathway levels with the SSC exome DN mutation data.
  • fig. S3. Prevalence of DN variant types by gene- and pathway-level effects in the SSC exome study.
  • fig. S4. An integrated view of autism associated DN variants or genes from multiple sources.
  • fig. S5. An integrated view of DN variants by gene level effects in the selected KEGG pathway, hsa04310 Wnt signaling pathway.
  • fig. S6. An integrated view of DN variants by gene level effects in the selected KEGG pathways, hsa04727 GABAergic synapse.
  • fig. S7. An integrated view of DN variants by gene level effects in the selected KEGG pathways, hsa04724 Glutamatergic synapse.
  • fig. S8. 1D protein domain structure and missense variants of genes in Wnt signaling pathway for both probands and siblings.
  • fig. S9. 1D protein domain structure and missense variants of genes in synapse pathways for both probands and siblings.
  • fig. S10. 1D protein domain structure and DN mutations of gene pairs in Wnt signaling and synapse pathways.
  • fig. S11. 1D and 3D protein structures and missense variants hitting mGluR inhibitor GRK (ADRBK2) and interacting G proteins.
  • fig. S12. Selected GO terms and emerging biological themes from the SSC exome variant data.
  • table S1. The actual (and expected) counts of DN events by gene-level (columns) and pathway-level (rows) effects.
  • table S2. Other pathways connected by three or more selected pathways in Table 1.
  • table S3. Significant GO groups selected from SSC, their test statistics, and references.
  • Legends for tables S4 to S6
  • References (58–89)

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Other Supplementary Material for this manuscript includes the following:

  • table S4 (Microsoft Excel format). Validated and selected variants in the multilevel integrated analyses of SSC and ASC data.
  • table S5 (Microsoft Excel format). Validated variants and functional annotations in the selected pathways of SSC data.
  • table S6 (Microsoft Excel format). Genes hit by LGD or missense events in probands in selected pathways.

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