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Table 1 CNV gene analysis

From: Functional consequences of copy number variants in miscarriage

Samples Miscarriage Locus Breakpoint CNV size (kb) Type of CNV and origin Gene picked for expression (type of CNV abnormality) mRNA expression in control elective terminations/miscarriage that carries the CNV Protein expression
Miscarriages from reference Rajcan-Separovic et al. [12] 03-3A 6q26 162126633-162271770 145 loss-pat PARK2 (loss involves part of exon and intron) N/not attempted  
05-3A 5q12.1 60407026-60464658 58 loss-pat NDUFAF2 (loss involves exon 3) yes/no difference between CNV carriers and controls  
06-3A,B,C and D (not in 3E) 17q25.3 74381287-74466887 86 gain-mat TIMP2 (gain involves exon1,2) yes/decrease in CNV carriers decreased
06-3E 15q22.1 56487120-56562873 76 loss-pat LIPC (loss of exon1) N/not attempted  
07-3A 10q21.3 67992425-68064617 72 loss-mat CTNNA3 (loss involves exon11) N/not attempted  
09-3B (not in 3A) Xp22.2 13415099-13745233 33 gain-mat EGFL6 (complete gain) N/not attempted  
GPM6B (almost complete gain) N/not attempted  
OFD1 (complete gain) yes/increase in CNV carrier increased in CNV carrier
RAB9A (complete gain) N/not attempted  
TRAPPC2 (complete gain) yes/increase in CNV carrier increased in CNV carrier
10-3A 5q23.3 129388119-129441487 53 loss-pat CHSY3 (CSS3) (loss involes intron) yes/no difference between CNV carrier and controls  
11p15.1 20442396-20559837 117 Gain-pat PRMT3 (gain involves exon9-11) yes/no difference between CNV carrier and controls  
7p14.1 39470588-39647671 177 Gain-mat POU6F2 (gain involves last exon) N/not attempted  
C7orf10 (complete gain) N/not attempted  
  1. N = expression in control villi tissue low or not detectable, the expression in miscarriage therefore not attempted.