Figure 3.

Enhancer gene targets from transcription factor binding sites (TFBS)-rSNVs point to regulatory machinery and pathways affected in spina bifida (SB). A. Gene Ontology analyses on our overrepresented target gene set in SB cases include biological processes of neural tube closure and skeletal system morphogenesis, as well as gene subsets that are also associated as transcriptional regulators. B. Ingenuity Pathway Analysis of our overrepresented target genes. C. Brain-specific functional module prediction of our SB overrepresented target genes.