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 AF_001 Exclusive Familial 7.06e-01 5.97e-01 5.15e-01 1.96e-04 Familial Exclusive EA_spliceAI AF_001 1.44e-06 3.38e-01 3.54e-22 3.61e-01 EA_spliceAI AF_001 Exclusive Familial Exclusive 7.65e-01 4.24e-01 6.83e-01 3.29e-04 Familial Exclusive EA_spliceAI AF_001 Exclusive 2.46e-06 5.28e-01 9.39e-23 6.33e-01 EA_spliceAI AF_001 Exclusive Overlap 9.68e-01 9.85e-01 9.97e-01 1.39e-01 Familial Exclusive Overlap 7.45e-12 7.45e-12 7.45e-12 9.39e-10 Overlap Exclusives 9.67e-05 5.61e-02 4.51e-18 2.00e-02 Evaluating how well EA_spliceAI AF_001 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 AF_001 Exclusive Familial 0.78 0.03 -0.89 -0.27 5.49 Familial Exclusive EA_spliceAI AF_001 0.52 1.23 1.64 1.31 1.23 EA_spliceAI AF_001 Exclusive Familial Exclusive 0.79 -0.08 -0.90 -0.24 5.07 Familial Exclusive EA_spliceAI AF_001 Exclusive 0.51 1.12 1.07 0.99 0.81 EA_spliceAI AF_001 Exclusive Overlap 0.73 -0.12 -0.78 -0.23 1.80 Familial Exclusive Overlap 1.00 1.59 3.70 2.51 3.82 Overlap Exclusives 0.54 1.65 2.30 1.63 2.71 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 AF_001 Exclusive Familial 0.02 1.10 6.75 1.09 44.79 Familial Exclusive EA_spliceAI AF_001 0.02 8.68 9.40 5.86 6.08 EA_spliceAI AF_001 Exclusive Familial Exclusive 0.02 1.32 7.18 2.68 48.46 Familial Exclusive EA_spliceAI AF_001 Exclusive 0.01 1.33 0.69 0.31 0.31 EA_spliceAI AF_001 Exclusive Overlap 0.00 0.19 0.52 -0.11 0.91 Familial Exclusive Overlap 0.27 26.69 1263.23 552.85 178.01 Overlap Exclusives 0.02 6.34 6.43 6.88 8.08 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 AF_001 Exclusive 283 278 AC069368.1;CBS;TEX52;C16orf86;AP000781.2 Familial Exclusive 18 18 Overlap 5 5