Fig. 5
From: Phase separation as a possible mechanism for dosage sensitivity
LoF genetic perturbations on phase-separating genes cause disturbed phenotypes. A Comparison of p-value of energy test between known phase-separating (PS) protein or proteins with top 5% phase separation score and other proteins in the human proteome. P-value was calculated with the two-sided Mann–Whitney U test. B Plot of cumulative distribution function for p-value of energy test of gene sets. ClinGen-HI&TS genes: haploinsufficient/triplosensitive gene from ClinGen. pHaplo-HI: haploinsufficient genes according pHaplo score. pTriplo-TS: triplosensitive genes according pTriplo score. SaPS top-score: genes with top 5% SaPS scores. C Confocal images of live SOX2 knockdown HEK 293T cells transfected with mCherry-tagged wild-type SOX2 protein, FUS-SOX2 (1–128) proteins and mCherry, and stained with Hoechst (blue). Scale bar, 5 µm. D SOX2 knockdown (KD) cells were transfected with the indicated SOX2 constructs. Data are shown as percentage over the SOX2-Full Length transfection. The values shown represent the mean ± SEM, ****P < 0.0001 (n = 3 replicates). E SOX2 target gene mRNA expression in cell lines