Table 4 14 candidate genes were screened out in 4 cases
From: Analysis of copy number variants detected by sequencing in spontaneous abortion
Case | Maternal age | Gestational weeks | Number of abortions | Gene | Cytoband | Type | PhyloP | human placental expression profile | RVIS_ExAC % |
|---|---|---|---|---|---|---|---|---|---|
Case1 | 26 | 12+ 1 | 2 | LZTR1 | 22q11.21 | del | 0.42968 | 16 TPM | 1.37% |
Case2 | 28 | 11+ 5 | 3 | TSHZ1 | 18q22.3 | del | 0.512115 | 64 TPM | 4.18% |
Case3 | 30 | 7+ 0 | 2 | AMIGO2 | 12q13.11 | dup | 1.2425 | 36 TPM | 13.03% |
Case4 | 28 | 10+ 6 | 1 | H1-4 | 6p22.2 | dup | 4.28406 | 265 TPM | 22.11% |
H2BC4 | 6p22.2 | dup | 3.37532 | 116 TPM | 23.36% | ||||
H2AC7 | 6p22.2 | dup | 4.27069 | 28 TPM | 23.42% | ||||
H3C8 | 6p22.2 | dup | 4.26379 | 423 TPM | 23.61% | ||||
H4C3 | 6p22.2 | dup | 4.42397 | 40 TPM | 24.55% | ||||
H3C6 | 6p22.2 | dup | 4.28406 | 265 TPM | 22.11% | ||||
PHKG2 | 16p11.2 | dup | 0.551319 | 12 TPM | 11.38% | ||||
PRR14 | 16p11.2 | dup | 0.692316 | 29 TPM | 14.18% | ||||
RNF40 | 16p11.2 | dup | 0.654751 | 37 TPM | 3.95% | ||||
SRCAP | 16p11.2 | dup | 0.65965 | 6 TPM | 0.23% | ||||
ZNF629 | 16p11.2 | dup | 0.441559 | 14 TPM | 23.18% |