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) spliceAI_06 AF_1 Z_2 Exclusive familial 2.54e-01 2.70e-02 6.91e-02 3.56e-04 familial Exclusive spliceAI_06 AF_1 Z_2 3.14e-08 1.96e-01 1.06e-04 6.37e-01 spliceAI_06 AF_1 Z_2 Exclusive familial Exclusive 3.16e-01 1.86e-02 2.78e-01 3.47e-04 familial Exclusive spliceAI_06 AF_1 Z_2 Exclusive 1.50e-08 2.22e-01 1.10e-04 3.36e-01 spliceAI_06 AF_1 Z_2 Exclusive Overlap 6.77e-01 9.17e-01 3.35e-01 4.88e-01 familial Exclusive Overlap 9.85e-05 9.85e-05 9.85e-05 9.85e-04 Overlap Exclusives 3.83e-04 2.12e-03 1.49e-18 6.04e-04 Evaluating how well spliceAI_06 AF_1 Z_2 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) spliceAI_06 AF_1 Z_2 Exclusive familial 0.72 -0.09 -1.26 -0.49 3.56 familial Exclusive spliceAI_06 AF_1 Z_2 0.48 -2.30 -1.92 -1.44 -0.42 spliceAI_06 AF_1 Z_2 Exclusive familial Exclusive 0.73 0.01 -1.42 -0.17 3.21 familial Exclusive spliceAI_06 AF_1 Z_2 Exclusive 0.48 -2.56 -2.39 -1.67 -0.88 spliceAI_06 AF_1 Z_2 Exclusive Overlap 0.63 -0.31 -0.34 -1.00 0.60 familial Exclusive Overlap 0.99 1.75 2.00 2.73 2.26 Overlap Exclusives 0.56 0.98 -0.12 0.38 2.54 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) spliceAI_06 AF_1 Z_2 Exclusive familial 0.00 -0.81 -2.48 -1.13 2.39 familial Exclusive spliceAI_06 AF_1 Z_2 0.01 -0.33 -0.06 -0.21 0.21 spliceAI_06 AF_1 Z_2 Exclusive familial Exclusive 0.00 -0.81 -2.52 -0.77 2.43 familial Exclusive spliceAI_06 AF_1 Z_2 Exclusive 0.01 -1.63 -1.70 -1.23 -0.72 spliceAI_06 AF_1 Z_2 Exclusive Overlap 0.00 -0.52 -0.44 -0.90 -0.28 familial Exclusive Overlap 0.02 2.57 126.19 88.08 18.96 Overlap Exclusives 0.03 42.17 34.71 9.92 22.86 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 spliceAI_06 AF_1 Z_2 Exclusive 120 117 AC113554.1;AC139530.2;PRR5-ARHGAP8 familial Exclusive 21 21 Overlap 2 2