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

Table 2

Genes mined within 100 bp of the CNVs of a KDS family.

CNV types	Functional class	Representative genes
Deleted CNVs	Binding and transporters	ZNF509, RNF150, DMRTC2, MYRIP, DDX26B, ZNF509, DMRTC2, ZNF509, MYRIP, FRMD4A, SCHIP1, DNAJC18, SDK1, CDH17, RP13-102H20.1, SLC5A9, MYRIP, ENTHD1
	Cell cycle	NEK7, PPP1R1C, MID1, FAM162A, RFC3, CTAGE5, RHOJ, CDC73, EIF4G3, CDKL1
	signal transduction	SDK1, LPHN3, FNDC3B, HAND2, MDGA1, MATR3, DST, MDGA1, CRADD, ARHGEF1, PKIB, NRG1, PIK3AP, ARHGAP25, GRAP2
	Immune response	C4orf7, CSN3, PROL1, GPX3, C1RL, GRAP2
Enlarged CNVs	Binding and transporters	ROR1, ERCC6, ALKBH8, C1orf83, KIAA0999, TUBA8, SLC28A2, LOC401898, KIAA2022, ZNF331, ZNF487, C1orf83, ELAC2, PCDH9, DNAJC3, LRRC50, ZNF208, LOC401898, LOC730087, ELAC2, CRB1, FSTL5, CDH19, TRPM3, TMTC1, SYT1, FSTL5, CPLX4, CDH19, DIAPH3, ERGIC2, LOC348751, COG2, SLC28A2
	Nervous development	ROR1, SEMA5A, SEMA5B, OPRM1, DYM, CNTN5, NTRK3, VIPR2, PCDH9
	Metabolism regulation	AHCYL1, PTTG2, PRIM2, HPGD, HPSE2, ALKBH8, PNLIPRP3, MBTPS1
	Biogenesis	SPATA5L1, ODF2, FMN1, SPTLC1, TBC1D1, HNT, MATN2, DGFC, GREM1, BMP
	Immune response	NTRK3, GPR177, ASTN2, CNTN5, GAB2, ELMOD1, DNAJC3, FER, HLA-DQB1