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 | Â |
05-3A | 5q12.1 | 60407026-60464658 | 58 | loss-pat | NDUFAF2 (loss involves exon 3) | yes/no difference between CNV carriers and controls | Â | |
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 | Â | |
07-3A | 10q21.3 | 67992425-68064617 | 72 | loss-mat | CTNNA3 (loss involves exon11) | N/not attempted | Â | |
09-3B (not in 3A) | Xp22.2 | 13415099-13745233 | 33 | gain-mat | EGFL6 (complete gain) | N/not attempted | Â | |
GPM6B (almost complete gain) | N/not attempted | Â | ||||||
OFD1 (complete gain) | yes/increase in CNV carrier | increased in CNV carrier | ||||||
RAB9A (complete gain) | N/not attempted | Â | ||||||
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 | Â | |
11p15.1 | 20442396-20559837 | 117 | Gain-pat | PRMT3 (gain involves exon9-11) | yes/no difference between CNV carrier and controls | Â | ||
7p14.1 | 39470588-39647671 | 177 | Gain-mat | POU6F2 (gain involves last exon) | N/not attempted | Â | ||
C7orf10 (complete gain) | N/not attempted | Â |