Table 2.
Gene | Location on a chromosome | The information of variants | Reference gene | Sample gene | Mutations | The number of samples | GO_CC | GO_BP | GO_MF | KEGG |
---|---|---|---|---|---|---|---|---|---|---|
TLR2 | 4q31.3 | Heterozygous/exon/pathogenic | C | T | c.1339C>T | II:3/III:2 | + | + | + | + |
TLR4 | 9q33.1 | Heterozygous/exon/pathogenic | G | A | c.820G>A, etc | II:3/III:2 | + | + | − | + |
CD36 | 7q21.11 | Heterozygous/exon/pathogenic | C | T | c.1039C>T, etc | II:2/II:4 | + | + | − | + |
FKBP6 | 7q11.23 | Heterozygous/exon/likely pathogenic | C | T | c.201C>T, etc | I:2/II:5 | − | + | + | − |
CD46 | 1q32.2 | Heterozygous/exon/pathogenic | C | T | c.38C>T, etc | II:4 | + | − | + | + |
ITGB5 | 3q21.2 | Heterozygous/exon/dominant inheritance | A | G | c.608T>C | I:2/II:2/II:4/II:5/III:2 | − | − | − | + |
KEL | 7q34 | Heterozygous/exon/pathogenic | T | A | c.1481A>T | II:2,II:4,III:2 | + | + | + | − |
“+”: the gene is expressed in this pathway.
“–”: the gene is not expressed in this pathway.