Fig. 6
From: Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Consequence of coding and noncoding variation in EBF3. A GTEx expression data of EBF3 with color corresponding to the organ system. B Human Protein Atlas highlighting where EBF3 expression is detected in the human body. C LacZ staining assay for reporter activity driven by the hs737 enhancer at mouse E11.5. D Phenotypic analysis comparing the frequency of ataxia, hypotonia, ID and GDD, autism, and having 7 or more symptoms between all patients, individuals with EBF3 mutations, individuals with mutations specifically in the EBF3 DNA binding domain, and in the hs737 enhancer. E Gene regulatory network encompassing EBF3 built using current molecular biological knowledge