Fig. 3: Neuron-specific BioID2 reveals an OTUD7A PPI network enriched for postsynaptic and axonal proteins which is impacted by patient mutations.

a Workflow for lentiviral neuron-specific BioID2 experiment in mouse cortical neurons. b Left: STRING analysis of functional interactions for WT OTUD7A BioID2. proteins with SAINT scores ≥ 0.6. Node size represents significance (SAINT SCORE). Node colors represent AIS (including those shared with AIS-BioID2 study by Hamdan et al. [73]): red, postsynapse: blue, and proteins that are both AIS and postsynaptic: purple. Data shown are from 3 biological replicates. Right: enrichment of ASD (SFARI Category 1/2/Syndromic) and epilepsy genes from Wang et al. [63]. Fisher’s exact test. c Top 15 significant GO: cellular component terms from functional enrichment analysis of the OTUD7A-BioID2 hits. p < 0.05, Functional enrichment analysis was performed using gProfiler with Bonferroni correction for multiple testing. A custom background statistical domain scope was used (Sharma et al., mouse whole brain proteome) [62]. d Venn diagram of shared protein interactors between WT OTUD7A, OTUD7A N492_K494del and OTUD7A L233F. e Dotplot showing SAINT SCORE and average abundance of WT OTUD7A and OTUD7A patient mutation interactors. f Dotplot of enriched GO: cellular component pathways in WT OTUD7A and patient mutation BioID2 hits.