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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