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Fig. 1 | Molecular Autism

Fig. 1

From: De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types

Fig. 1

Disruption of protein interaction helps identify important de novo missense (dnMis) variants in ASD probands. a Data source of dnMis variants and a schematic diagram showing the proteome-wide mapping of dnMis variants onto protein–protein interaction interfaces for predicting interaction disruption. b Interaction disruptions are more common in ASD probands than in unaffected siblings. c Interaction disruption predictions rescue disruptive dnMis variants that were not recognized as damaging by MPC. Left: a Venn diagram showing the logical relations between genes affected by disruptive dnMis variants predicted by interaction disruption (red) and by MPC (Missense badness, PolyPhen-2, and Constraint; solid blue: MPC ≥ 2; dashed blue: MPC ≥ 1). Right: a co-crystal structure of ADAP1-KIF13B (PDB ID: 3MDB) displaying the interface location of an ASD proband dnMis variant ADAP1 G144R

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