Fig. 1

Dosage-sensitive gene products tend to undergo phase separation. A Comparison of SaPS rank score between human proteome and gene sets with high dosage sensitivity. HI/TS genes: haploinsufficient/triplosensitive gene products from ClinGen. High pLI/pHaplo/pTriplo genes: genes with top 20% pLI/pHaplo/pTriplo scores. Low LOEUF genes: genes with bottom 20% LOEUF scores. P-value was calculated with the two-sided Mann–Whitney U test. B Kernel density regression plot of LOEUF score and SaPS rank score. The coefficient is represented with the Spearman correlation coefficient. P-value was calculated with Spearman’s rank correlation test. C, D AUC performance of predicting self-assembling (C) and partner-dependent phase-separating proteins (D) on the test set. E Comparison of SaPS DM score between the human proteome and gene sets with high dosage sensitivity. P-value was calculated with the two-sided Mann–Whitney U test. F Heatmap of Spearman correlation coefficient between LOEUF score and factors. The bar represents the multiple regression coefficients between LOEUF score and factors. G Comparison of pLI score in proteins sets. Disordered regions were calculated with the ESpritz DisProt program. P-value was calculated with the two-sided Mann–Whitney U test. PS: phase-separating