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) EA spliceAI 0001 Exclusive Familial 4.44e-01 7.51e-01 5.12e-01 1.43e-06 Familial Exclusive EA spliceAI 0001 3.13e-09 6.44e-01 7.60e-23 1.97e-01 EA spliceAI 0001 Exclusive Familial Exclusive 5.12e-01 7.15e-01 8.21e-01 3.79e-05 Familial Exclusive EA spliceAI 0001 Exclusive 9.27e-09 6.24e-01 1.77e-24 2.07e-01 EA spliceAI 0001 Exclusive Overlap 3.01e-01 1.93e-01 4.07e-01 4.13e-02 Familial Exclusive Overlap 1.83e-09 1.83e-09 1.83e-09 9.14e-09 Overlap Exclusives 1.35e-03 4.20e-02 2.23e-32 2.35e-03 Evaluating how well EA spliceAI 0001 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) EA spliceAI 0001 Exclusive Familial 0.80 0.33 0.16 -0.19 4.73 Familial Exclusive EA spliceAI 0001 0.52 1.04 0.73 0.53 1.20 EA spliceAI 0001 Exclusive Familial Exclusive 0.79 0.43 -0.14 -0.26 4.47 Familial Exclusive EA spliceAI 0001 Exclusive 0.51 1.23 0.63 0.33 0.94 EA spliceAI 0001 Exclusive Overlap 0.83 0.52 0.29 0.27 2.64 Familial Exclusive Overlap 1.00 1.73 3.70 2.52 3.74 Overlap Exclusives 0.56 4.18 2.90 2.40 4.24 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) EA spliceAI 0001 Exclusive Familial 0.02 0.56 1.78 1.34 54.63 Familial Exclusive EA spliceAI 0001 0.02 7.11 5.49 4.30 5.16 EA spliceAI 0001 Exclusive Familial Exclusive 0.02 0.48 1.61 1.88 31.18 Familial Exclusive EA spliceAI 0001 Exclusive 0.02 1.49 0.76 0.07 0.39 EA spliceAI 0001 Exclusive Overlap 0.00 0.88 2.86 0.61 14.59 Familial Exclusive Overlap 0.28 105.09 1365.87 580.24 1187.23 Overlap Exclusives 0.03 13.15 9.70 6.98 9.81 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 EA spliceAI 0001 Exclusive 328 319 SMIM6;RNASE4;AC069368.1;PRR36;AP000781.2;TEX52;CBS;C16orf86;AC099811.2 Familial Exclusive 19 19 Overlap 4 4