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 splice_region 0001 Exclusive familial 7.78e-01 3.15e-01 2.83e-01 7.26e-07 familial Exclusive EA spliceAI splice_region 0001 5.02e-09 3.68e-01 1.57e-13 6.61e-01 EA spliceAI splice_region 0001 Exclusive familial Exclusive 9.64e-01 8.89e-01 7.66e-01 1.15e-05 familial Exclusive EA spliceAI splice_region 0001 Exclusive 2.52e-09 4.08e-01 9.15e-14 6.18e-01 EA spliceAI splice_region 0001 Exclusive Overlap 3.98e-01 7.71e-02 2.82e-01 4.00e-02 familial Exclusive Overlap 4.36e-07 4.36e-07 4.36e-07 1.74e-06 Overlap Exclusives 3.17e-04 6.21e-02 4.72e-18 1.22e-04 Evaluating how well EA spliceAI splice_region 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 splice_region 0001 Exclusive familial 0.81 0.12 0.66 0.29 6.14 familial Exclusive EA spliceAI splice_region 0001 0.51 -1.00 -1.00 -0.49 0.67 EA spliceAI splice_region 0001 Exclusive familial Exclusive 0.80 -0.10 -0.27 0.04 4.93 familial Exclusive EA spliceAI splice_region 0001 Exclusive 0.51 -0.99 -1.07 -0.70 0.46 EA spliceAI splice_region 0001 Exclusive Overlap 0.90 1.05 2.04 1.38 2.39 familial Exclusive Overlap 1.00 1.50 3.19 2.15 3.19 Overlap Exclusives 0.57 3.02 2.00 1.44 4.04 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) EA spliceAI splice_region 0001 Exclusive familial 0.01 -0.52 -1.20 -0.02 19.64 familial Exclusive EA spliceAI splice_region 0001 0.02 7.50 6.96 5.77 5.82 EA spliceAI splice_region 0001 Exclusive familial Exclusive 0.01 -0.54 -1.83 -0.30 8.21 familial Exclusive EA spliceAI splice_region 0001 Exclusive 0.01 -0.38 -0.52 -0.32 0.18 EA spliceAI splice_region 0001 Exclusive Overlap 0.00 1.19 8.88 1.34 0.65 familial Exclusive Overlap 0.36 111.82 2156.80 316.91 568.13 Overlap Exclusives 0.03 18.23 14.96 8.47 14.01 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 splice_region 0001 Exclusive 260 252 AP000781.2;BORCS8-MEF2B;AC099811.2;ATP5MF-PTCD1;RNASE4;CBS;C16orf86;HDGFL2 familial Exclusive 20 20 Overlap 3 3