A novel approach to investigate tissue-specific trinucleotide repeat instability

BMC Systems Biology

Table 2 Pathways significantly correlated with the instability index.

Name	Size	NES	P value
Negative correlation
G1 to S cell cycle reactome	150	-1.87	0.0000
Nuclear membrane	208	-1.72	0.0023
Negative regulation of progression through cell cycle	183	-1.64	0.0024
Mitosis	261	-1.82	0.0044
M phase of mitotic cell cycle	262	-1.81	0.0044
Protein kinase inhibitor activity	41	-1.71	0.0046
G1 pathway	68	-1.85	0.0046
Cell cycle pathway	57	-1.85	0.0066
Mitotic cell cycle	427	-1.76	0.0069
Kinase inhibitor activity	42	-1.72	0.0070
Protein amino acid-ribosylation	30	-1.92	0.0071
Eicosanoid synthesis	29	-1.79	0.0072
P53 pathway	43	-1.77	0.0085
Notch pathway	17	-1.70	0.0086
Cell cycle	176	-1.82	0.0087
Integrin mediated cell adhesion	222	-1.73	0.0089
RNA helicase activity	41	-1.78	0.0097
Positive correlation
UDP-galactose beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	21	1.84	0.0000
Adrenoceptor activity	25	1.94	0.0017
Amine receptor activity	47	1.88	0.0018
Beta-1,3-galactosyltransferase activity	25	1.94	0.0020
Mono amine GPCRS	45	1.88	0.0038
Glutamate metabolism	51	1.78	0.0042
Neuromuscular junction development	15	1.76	0.0057
Serotonin receptor activity	22	1.81	0.0057
Oxidoreductase activity, acting on the CH-CH groups of donors, oxygen as acceptor	15	1.72	0.0064

Gene set enrichment analysis was performed using Pearson correlation between expression level and instability index as a ranking metric. Significant gene sets were identified by permutation-based nominal p value (p < 0.01). NES, normalized enrichment score.

ISSN: 1752-0509