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 001 Exclusive	familial	6.82e-01	3.68e-01	6.96e-01	1.13e-05
familial Exclusive	EA spliceAI splice_region 001	1.91e-06	5.45e-01	4.52e-09	1.54e-01
EA spliceAI splice_region 001 Exclusive	familial Exclusive	7.12e-01	3.71e-01	4.96e-01	1.49e-05
familial Exclusive	EA spliceAI splice_region 001 Exclusive	2.47e-06	5.51e-01	6.69e-09	2.06e-01
EA spliceAI splice_region 001 Exclusive	Overlap	5.94e-01	1.98e-02	7.52e-01	2.57e-01
familial Exclusive	Overlap	1.98e-02	1.98e-02	1.98e-02	1.98e-02
Overlap	Exclusives	4.39e-03	4.89e-02	1.35e-41	1.07e-03



Evaluating how well EA spliceAI splice_region 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 splice_region 001 Exclusive	familial	0.81	0.11	0.14	0.19	5.75
familial Exclusive	EA spliceAI splice_region 001	0.53	-0.71	-0.90	-0.09	1.54
EA spliceAI splice_region 001 Exclusive	familial Exclusive	0.80	0.26	0.08	0.34	5.17
familial Exclusive	EA spliceAI splice_region 001 Exclusive	0.53	-0.61	-0.92	-0.14	1.22
EA spliceAI splice_region 001 Exclusive	Overlap	0.91	-0.57	1.48	0.19	1.31
familial Exclusive	Overlap	1.00	0.88	1.36	1.70	1.83
Overlap	Exclusives	0.58	1.12	0.48	0.77	4.18

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 001 Exclusive	familial	0.00	-1.04	-2.13	-0.53	7.85
familial Exclusive	EA spliceAI splice_region 001	0.01	-0.85	-0.60	0.06	0.66
EA spliceAI splice_region 001 Exclusive	familial Exclusive	0.00	-0.99	-1.67	-0.37	0.46
familial Exclusive	EA spliceAI splice_region 001 Exclusive	0.01	-0.79	-0.85	-0.11	0.46
EA spliceAI splice_region 001 Exclusive	Overlap	0.00	-0.65	1.61	-0.43	0.21
familial Exclusive	Overlap	0.01	0.41	37.73	27.96	29.81
Overlap	Exclusives	0.02	2.29	8.81	5.21	7.89

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 001 Exclusive	198	192	C16orf86;CBS;BORCS8-MEF2B;AP000781.2;ATP5MF-PTCD1;SMIM6
familial Exclusive	22	22	
Overlap	1	1