Original Article

Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family

Table 3

Pathways derived from the genes located in the CNV flanks of a KDS family.

CNVsCopy numbersRelated genesRelated pathways

rs2002594; rs19866171FAM162AMitochondrial apoptotic cascades
rs10517547; rs10517548; rs2122642; rs2345041; rs1823535; rs1823536; rs14707241LPHN3G-protein-coupled-receptor proteolysis
rs7642231PGAM1Glycolysis/gluconeogenesis; metabolism of carbohydrates
rs137964; rs104832011GRAP2T cell receptor signaling pathway
rs104913334HLA-DQB1Antigen processing and presentation
rs28952014SPTLC1Sphingolipid metabolism
rs1988981; rs1321555; rs1358815; rs1964875;4PRIM2Purine and pyrimidine metabolism; telomere maintenance
rs3797819; rs10515399; rs1896582; rs1366081; rs93267594FERAdherens junction
rs342597; rs10507638; rs105076393DIAPH3Regulation of actin cytoskeleton
rs10520675; rs10520671; rs7167737; rs1948066; rs10520673; rs9653133NTRK3MAPK pathway
rs6816712; rs2911940; rs10517654; rs10517655; rs7662187; rs105176583PDGFCCytokine-cytokine receptor interaction; Focal adhesion; Gap junction
rs855858; rs855860; rs104897363ROR1transmembrane receptor protein tyrosine kinase signaling pathway
rs29123GAB2Fc epsilon RI signaling pathway
rs10491050; rs7092874; rs79041183SORCS1neuropeptide signaling pathway
rs10485060; rs9322451; rs18526293OPRM1Neuroactive ligand-receptor interaction
rs1060447; rs4919231; rs1932796; rs716838; rs2169462; rs105097223HPSE2Glycosaminoglycan degradation