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_AF001_3 Exclusive Familial 9.18e-01 6.57e-01 7.65e-01 4.17e-03 Familial Exclusive mu_spliceAI_AF001_3 2.33e-02 8.96e-01 1.66e-05 8.40e-01 mu_spliceAI_AF001_3 Exclusive Familial Exclusive 8.36e-01 5.79e-01 8.30e-01 4.66e-03 Familial Exclusive mu_spliceAI_AF001_3 Exclusive 2.50e-02 9.31e-01 1.17e-04 9.11e-01 mu_spliceAI_AF001_3 Exclusive Overlap 8.51e-01 1.98e-02 5.74e-01 4.16e-01 Familial Exclusive Overlap 1.98e-02 1.98e-02 1.98e-02 1.98e-02 Overlap Exclusives 6.58e-04 7.93e-03 6.97e-21 2.31e-03 Evaluating how well mu_spliceAI_AF001_3 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_AF001_3 Exclusive Familial 0.71 -0.24 -0.26 -0.47 3.89 Familial Exclusive mu_spliceAI_AF001_3 0.52 0.99 0.30 0.53 0.48 mu_spliceAI_AF001_3 Exclusive Familial Exclusive 0.71 -0.31 -0.38 -0.36 3.51 Familial Exclusive mu_spliceAI_AF001_3 Exclusive 0.51 1.02 0.19 0.20 0.42 mu_spliceAI_AF001_3 Exclusive Overlap 0.82 -0.08 1.24 -0.43 1.06 Familial Exclusive Overlap 1.00 1.01 1.29 1.74 2.03 Overlap Exclusives 0.59 2.13 2.28 1.10 3.57 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_AF001_3 Exclusive Familial 0.00 -0.41 -1.26 -0.73 3.45 Familial Exclusive mu_spliceAI_AF001_3 0.01 0.63 -0.10 0.03 -0.06 mu_spliceAI_AF001_3 Exclusive Familial Exclusive 0.00 -0.51 -1.49 -0.63 1.75 Familial Exclusive mu_spliceAI_AF001_3 Exclusive 0.01 0.39 -0.23 -0.23 -0.24 mu_spliceAI_AF001_3 Exclusive Overlap 0.00 -0.48 1.48 -0.54 -0.01 Familial Exclusive Overlap 0.01 1.54 37.79 23.18 31.89 Overlap Exclusives 0.02 19.16 19.07 6.23 18.83 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_AF001_3 Exclusive 103 99 CBS;C16orf86;AP000781.2;PRR36 Familial Exclusive 22 22 Overlap 1 1