Evidence-Based Complementary and Alternative Medicine / 2011 / Article / Tab 2

Original Article

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 typesFunctional classRepresentative genes

Deleted CNVsBinding and transportersZNF509, RNF150, DMRTC2, MYRIP, DDX26B, ZNF509, DMRTC2, ZNF509, MYRIP, FRMD4A, SCHIP1, DNAJC18, SDK1, CDH17, RP13-102H20.1, SLC5A9, MYRIP, ENTHD1
Cell cycleNEK7, PPP1R1C, MID1, FAM162A, RFC3, CTAGE5, RHOJ, CDC73, EIF4G3, CDKL1
signal transductionSDK1, LPHN3, FNDC3B, HAND2, MDGA1, MATR3, DST, MDGA1, CRADD, ARHGEF1, PKIB, NRG1, PIK3AP, ARHGAP25, GRAP2
Immune responseC4orf7, CSN3, PROL1, GPX3, C1RL, GRAP2
Enlarged CNVsBinding and transportersROR1, 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 developmentROR1, SEMA5A, SEMA5B, OPRM1, DYM, CNTN5, NTRK3, VIPR2, PCDH9
Metabolism regulationAHCYL1, PTTG2, PRIM2, HPGD, HPSE2, ALKBH8, PNLIPRP3, MBTPS1
BiogenesisSPATA5L1, ODF2, FMN1, SPTLC1, TBC1D1, HNT, MATN2, DGFC, GREM1, BMP
Immune responseNTRK3, GPR177, ASTN2, CNTN5, GAB2, ELMOD1, DNAJC3, FER, HLA-DQB1

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