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_AF001_25 Exclusive	Familial	5.35e-01	8.75e-01	4.44e-01	4.12e-04
Familial Exclusive	EA_spliceAI_AF001_25	1.29e-07	4.45e-01	1.47e-17	4.50e-02
EA_spliceAI_AF001_25 Exclusive	Familial Exclusive	6.89e-01	7.55e-01	6.66e-01	2.76e-03
Familial Exclusive	EA_spliceAI_AF001_25 Exclusive	4.80e-08	3.86e-01	1.19e-16	7.07e-02
EA_spliceAI_AF001_25 Exclusive	Overlap	8.46e-01	7.13e-01	6.95e-01	1.59e-03
Familial Exclusive	Overlap	4.36e-07	4.36e-07	4.36e-07	4.36e-07
Overlap	Exclusives	3.85e-04	1.20e-02	1.03e-46	2.15e-03



Evaluating how well EA_spliceAI_AF001_25 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_AF001_25 Exclusive	Familial	0.79	0.06	-0.63	-0.10	4.76
Familial Exclusive	EA_spliceAI_AF001_25	0.54	1.43	1.81	1.73	2.42
EA_spliceAI_AF001_25 Exclusive	Familial Exclusive	0.76	-0.16	-0.74	-0.39	4.41
Familial Exclusive	EA_spliceAI_AF001_25 Exclusive	0.54	1.26	1.77	1.52	2.02
EA_spliceAI_AF001_25 Exclusive	Overlap	0.94	0.55	0.94	0.66	2.83
Familial Exclusive	Overlap	1.00	1.49	2.88	2.67	3.50
Overlap	Exclusives	0.57	3.18	3.09	2.02	3.93

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_AF001_25 Exclusive	Familial	0.02	0.50	3.31	2.60	4.04
Familial Exclusive	EA_spliceAI_AF001_25	0.02	1.98	1.26	1.60	2.24
EA_spliceAI_AF001_25 Exclusive	Familial Exclusive	0.02	1.26	3.18	2.60	32.30
Familial Exclusive	EA_spliceAI_AF001_25 Exclusive	0.01	1.00	0.38	0.69	0.61
EA_spliceAI_AF001_25 Exclusive	Overlap	0.00	-0.01	1.69	0.22	1.90
Familial Exclusive	Overlap	0.02	8.02	121.28	106.76	212.90
Overlap	Exclusives	0.02	6.96	10.59	6.76	7.97

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_AF001_25 Exclusive	259	253	AC069368.1;C16orf86;SMIM6;PRR36;AP000781.2;CBS
Familial Exclusive	20	20	
Overlap	3	3