Table 2 Top 20 ReactomeDB pathways identified in differential analysis of disease-associated data sets compared with the set of common variants
Germline cancer-associated mutations | Somatic cancer-associated mutations | Mutations associated with non-cancer diseases |
|---|---|---|
Regulation of TP53 activity through phosphorylation | PIP3 activates AKT signaling | Neutrophil degranulation |
Ub-specific processing proteases | Oxidative stress-induced senescence | Intrinsic pathway of fibrin clot formation |
TP53 regulates transcription of DNA repair genes | Factors involved in megakaryocyte development and platelet production | Glycosphingolipid metabolism |
G2/M DNA damage checkpoint | Oncogene-induced senescence | Gap junction assembly |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | Ub-specific processing proteases | Urea cycle |
Factors involved in megakaryocyte development and platelet production | Ovarian tumor domain proteases | Platelet degranulation |
PIP3 activates AKT signaling | Regulation of TP53 degradation | Oligomerization of connexins into connexons |
Stabilization of p53 | Regulation of TP53 activity through Phosphorylation | Transport of connexins along the secretory pathway |
Regulation of TP53 activity through methylation | Pre-NOTCH transcription and translation | Galactose catabolism |
Regulation of TP53 degradation | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus |
Formation of senescence-associated heterochromatin foci (SAHF) | Association of TriC/CCT with target proteins during biosynthesis | Removal of aminoterminal propeptides from gamma-carboxylated proteins |
Oncogene induced senescence | TP53 regulates transcription of DNA repair Genes | Gamma-carboxylation of protein precursors |
Oxidative stress-induced senescence | G2/M DNA damage checkpoint | Extrinsic pathway of fibrin clot formation |
DNA damage/telomere stress-induced Senescence | TP53 regulates metabolic genes | Common pathway of fibrin clot formation |
SUMOylation of transcription factors | Regulation of TP53 activity through methylation | Striated muscle contraction |
Activation of NOXA and translocation to mitochondria | Regulation of TP53 activity through acetylation | RAF/MAP kinase cascade |
Regulation of TP53 activity through acetylation | TP53 regulates transcription of genes involved in Cytochrome C release | Regulation of gene expression in beta cells |
Transcriptional activation of cell cycle inhibitor p21 | Stabilization of p53 | Phenylalanine and tyrosine catabolism |
PI5P regulates TP53 acetylation | Regulation of TP53 activity through association with co-factors | Signaling by BRAF and RAF fusions |
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain | DNA damage/telomere stress-induced senescence | Signaling by RAS mutants |
