Table 2 Functional analysis of novel nsSNV containing genes
Analysis | Functional object | Observed | Expected | +/- | P value |
|---|---|---|---|---|---|
PANTHER pathways | Integrin signaling pathway | 147 | 99.09 | + | 6.43E-04 |
Cadherin signaling pathway | 109 | 74.91 | + | 2.15E-02 | |
Endothelin signaling pathway | 62 | 38.88 | + | 6.55E-02 | |
Gonadotropin releasing hormone receptor pathway | 174 | 133.70 | + | 7.71E-02 | |
Nicotinic acetylcholine receptor signaling pathway | 75 | 49.78 | + | 8.78E-02 | |
PANTHER protein classification | Cell adhesion molecule | 443 | 316.70 | + | 9.28E-10 |
G-protein modulator | 346 | 238.47 | + | 3.82E-09 | |
enzyme modulator | 906 | 730.11 | + | 5.69E-09 | |
kinase | 431 | 312.91 | + | 1.28E-08 | |
cytoskeletal protein | 585 | 452.77 | + | 1.02E-07 | |
GO biological process | Cell communication | 2333 | 2002.60 | + | 3.16E-14 |
Cell adhesion | 820 | 616.80 | + | 6.15E-14 | |
Signal transduction | 2204 | 1905.41 | + | 5.32E-12 | |
Cellular component organization | 773 | 595.00 | + | 4.72E-11 | |
Protein modification process | 804 | 630.55 | + | 5.80E-10 | |
GO molecular function | Hydrolase activity | 1295 | 1053.92 | + | 1.81E-12 |
Transferase activity | 962 | 759.03 | + | 1.12E-11 | |
Protein binding | 1715 | 1456.91 | + | 5.40E-11 | |
Transmembrane transporter activity | 609 | 460.35 | + | 9.79E-10 | |
Enzyme regulator activity | 732 | 576.51 | + | 1.05E-08 | |
GO cellular component | Cytoskeleton | 585 | 452.77 | + | 2.03E-08 |
Intracellular | 681 | 540.47 | + | 3.98E-08 | |
Actin cytoskeleton | 302 | 229.94 | + | 8.66E-05 | |
MHC protein complex | 18 | 40.30 | - | 2.37E-03 | |
Extracellular matrix | 327 | 264.55 | + | 3.33E-03 |