Fig. 2: Distribution and predicted deleteriousness of RFX variants. | Genetics in Medicine

Fig. 2: Distribution and predicted deleteriousness of RFX variants.

From: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Fig. 2: Distribution and predicted deleteriousness of RFX variants.

(a) Mapping of selected RFX variants to domains. Whole-gene deletion and intronic variants are not illustrated. RFX3 (NP_602304.1), RFX4 (NP_998759.1), RFX7 (NP_073752.5). (b) Missense variant deleteriousness scores for the currently reported variants (current) and prior reported variants (prior) in RFX3, 4, and 7. The distribution of MPC scores for missense variants reported in this study is significantly different from that of prior reported missense variants, Kolmogorov–Smirnov (K-S) test p value <0.05 (p value = 0.015). CADD Combined Annotation Dependent Depletion, MPC Missense badness, PolyPhen-2, and Constraint, NsynD Nonsynonymous Damaging score.

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