Fig. 1
From: Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Characterization of DNVs in hs737. A Pedigrees of families with de novo variants in hs737. Lightning symbols indicate de novo variants with red = regulatory, purple = missense, and blue = deletion. Family identifiers are shown above the pedigree and the full-scale IQ is shown below each proband. B Sequence analysis of each of the three hs737 de novo mutations, identified in individuals with autism, including transcription factor binding site analysis results. C Results of luciferase assays in neuroblastoma (Neuro2a) cell lines with rs2435357 (RET+3) as a positive control for enhancer activity, promoter only (Basal), the wild type sequence of hs737 (hs737wt), and each of the three DNVs identified in individuals with autism. Error bars represent standard error (SE). D log2 normalized expression of genes from the transcription factor binding site analysis in the brain throughout development and adulthood. E Correlogram of candidate genes and EBF3 after performing regression, with positive control MECP2 and negative control CFTR