Table 5.
Identification of CUP-associated gene mutations/variations from maternal blood specimens from sPTL.
| Gene | P-value | Chrom | Position | Category | Ref_alle | Mut_alle | Type | AA | Significance | Description |
|---|---|---|---|---|---|---|---|---|---|---|
| COL23A1 | 0.007972 | chr5 | 177987740 | exon2 | C | T | Point_M | p.G102R | Nonsynonymous | Collagen, type XXIII, alpha 1 |
| COL4A2 | 0.02807 | chr13 | 111077400 | intronic | AT | A | InDel | Del_T | Collagen, type IV, alpha 2 | |
| COL4A2 | 0.04936 | chr13 | 111120699 | intronic | C | CT | InDel | Ins_T | Collagen, type IV, alpha 2 | |
| COL18A1 | 0.0086 | chr21 | 46900356 | intronic | G | C | SNV | Collagen, type XVIII, alpha 1 | ||
| COL22A1 | 0.02772 | chr8 | 139691995 | intronic | T | TGTTA | InDel | Ins_GTTA | Collagen, type XXII, alpha 1 | |
| COL23A1 | 0.007972 | chr5 | 177987780 | intronic | G | A | SNV | Collagen, type XXIII, alpha 1 | ||
| COL28A1 | 0.02708 | chr7 | 7459630 | intronic | T | TTATG | InDel | Ins_TATG | Collagen, type XXVIII, alpha 1 | |
| COL28A1 | 0.02755 | chr7 | 7459616 | intronic | AT | A | InDel | Del_T | Collagen, type XXVIII, alpha 1 | |
| UBE2F-SCLY | 0.00987 | chr2 | 239007755 | ncRNA_exonic | C | CATT | InDel | Ins_ATT | UBE2F-SCLY readthrough | |
| UBR5 | 0.002894 | chr8 | 103306033 | exon34 | T | C | Point_M | p.V1463V | Synonymous | Ubiquitin protein ligase E3 component n-recognin 5 |
| UBR5 | 0.002894 | chr8 | 103327127 | intronic | A | C | SNV | Ubiquitin protein ligase E3 component n-recognin 5 | ||
| UBA7 | 0.02729 | chr3 | 49842881 | intronic | TG | T | InDel | Del_G | Ubiquitin-like modifier activating enzyme 7 | |
| USP31 | 0.001936 | chr16 | 23102027 | exon7 | C | A | Point_M | p.D445Y | Nonsynonymous | Ubiquitin specific peptidase |
| USPL1 | 0.005818 | chr13 | 31233063 | exon9 | G | A | Point_M | p.S950N | Nonsynonymous | Ubiquitin specific peptidase like 1 |
| USPL1 | 0.005818 | chr13 | 31231806 | exon9 | T | C | Point_M | p.L531S | Nonsynonymous | Ubiquitin specific peptidase like 1 |
| PSMG2 | 0.02867 | chr18 | 12712817 | intronic | C | CATT | InDel | Ins_ATT | Proteasome (prosome, macropain) assembly chaperone 2 | |
| PSMA4 | 0.03335 | chr15 | 78836631 | intronic | CTGA | C | InDel | Del_TGA | Proteasome (prosome, macropain) subunit, alpha type, 4 |
P val (Rubba et al., 2001), P-value of co-variants; Ref_alle, reference allele; Mut-alle, mutant allele; AA, amino acid; Chrom, chromosome; InDel, Insertion and deletion; Ins, insertion; Del, deletion; SNV, single nucleotide variation.