Comparing distributions of experimental and random diffusion values (p-values for KS tests) Seeds Recipients Randomize Seeds (degree-matched) Randomize Recipients (degree-matched) Randomize Seeds (uniform) Randomize Recipients (uniform) mu_spliceAI Exclusive Familial 1.87e-01 6.01e-01 2.86e-01 3.18e-07 Familial Exclusive mu_spliceAI 4.36e-07 7.86e-01 1.00e-06 5.47e-01 mu_spliceAI Exclusive Familial Exclusive 1.32e-01 7.12e-01 1.35e-01 7.93e-08 Familial Exclusive mu_spliceAI Exclusive 3.58e-07 7.60e-01 1.78e-06 6.67e-01 mu_spliceAI Exclusive Overlap 9.70e-01 7.33e-01 8.32e-01 6.93e-01 Familial Exclusive Overlap 1.98e-02 1.98e-02 1.98e-02 1.98e-02 Overlap Exclusives 4.75e-03 2.04e-03 8.50e-06 1.75e-03 Evaluating how well mu_spliceAI genes are linked to Familial genes, comparing against random ROC results Seeds Recipients AUROC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) mu_spliceAI Exclusive Familial 0.80 0.78 0.84 0.42 4.74 Familial Exclusive mu_spliceAI 0.52 -1.72 -0.43 -0.64 0.66 mu_spliceAI Exclusive Familial Exclusive 0.81 0.73 0.93 0.65 5.18 Familial Exclusive mu_spliceAI Exclusive 0.51 -1.55 -0.50 -0.54 0.37 mu_spliceAI Exclusive Overlap 0.63 0.05 -0.28 0.19 0.52 Familial Exclusive Overlap 1.00 1.75 1.51 2.58 1.59 Overlap Exclusives 0.58 0.23 0.79 0.53 3.04 PRC results Seeds Recipients AUPRC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) mu_spliceAI Exclusive Familial 0.00 -0.36 -2.45 -0.54 2.16 Familial Exclusive mu_spliceAI 0.01 1.31 1.01 0.32 0.52 mu_spliceAI Exclusive Familial Exclusive 0.00 -0.36 -2.78 -0.35 2.53 Familial Exclusive mu_spliceAI Exclusive 0.01 -0.55 -0.18 -0.43 0.02 mu_spliceAI Exclusive Overlap 0.00 -0.28 -0.53 -0.25 -0.23 Familial Exclusive Overlap 0.03 98.78 175.35 388.44 200.71 Overlap Exclusives 0.03 15.87 24.15 11.80 17.98 Z-scores are computed for the experimental area under ROC or PRC based on distributions of the random areas under these curves Seeds: Genes where diffusion signal starts FROM) Recipients: Genes that receive the diffusion signal and that are in the other validated group Random genes are selected either uniformly or degree matched Number of genes ** #Total # Mapped in the network Not mapped genes mu_spliceAI Exclusive 120 118 AC139530.2;AC113554.1 Familial Exclusive 22 22 Overlap 1 1