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Table 3 Biological processes associated with genes rearranged in patients with PS

From: Assessment of copy number variations in 120 patients with Poland syndrome

Genes Annotations List sizea Reference Supportb Reference sizec Hyp_cd
FYN, CDH6, CDH9, FRK, CDH12 Panther P00012: Cadherin signaling pathway (modular enrichment) 61 140 34208 7.40x10-5
FYN, TRIO, KIF18A, MYH11, FRK, TUBE1, ABCC6, KIAA0430, REV3L, DNAH5, ABCC1 GO 0000166: nucleotide binding (MF) (modular enrichment) 61 2120 34208 3.70x10-3
CDH6,HDAC2, CDH9,CDH12 Panther P00057: Wnt signaling pathway (modular enrichment) 61 280 34208 4.05x10-3
FYN, KIF18A, HDAC2 GO 0005515: protein binding (MF); GO 0007596: blood coagulation (BP) (modular enrichment) 61 251 34208 1.92x10-2
TRIO, LGALS12, PSMD7, TNFRSF19 GO:0006915, apoptotic process (BP) (modular enrichment) 61 594 34208 3.02x10-2
KIF18A, TUBE1, DNAH5 GO 0007018, microtubule-based movement (BP) 61 90 34208 2.88x10-2
GLG1 GO 0032330: regulation of chondrocyte differentiation (BP) 61 3 34208 4.17x10-2
MYH11 GO 0030241, skeletal muscle myosin thick filament assembly (BP) 61 3 34208 4.17x10-2
  1. Abbreviations: aTotal number of genes in the input CNV list. bNumber of annotated genes in the reference list. cTotal number of genes in the reference list. dHyp_c = Corrected hypergeometric pValue using FDR procedure with a cut-off of 5% GeneCodis. BP = biological processes. MF = molecular function