Table 2. Gene Ontology (GO) analysis related to “molecular activity” of differentially methylated promoters in PAH patients.
| Term | P-value | Z-score | Genes |
|---|---|---|---|
| RNA polymerase II regulatory region DNA binding (GO:0001012) | 0.00 | −2.42 | STAT5A;TFAP2A;NR1I2;TBX5;GATA2;ACTB;FLI1;ETS2;NR2F6;SOX18;ELF5;HAND2;ALX1;NKX2-5 |
| transcription regulatory region sequence-specific DNA binding (GO:0000976) | 0.00 | −2.42 | STAT5A;TFAP2A;NR1I2;TBX5;GATA2;ACTB;FLI1;ETS2;NR2F6;SOX18;ELF5;HAND2;ALX1;NKX2-5 |
| cytidine deaminase activity (GO:0004126) | 0.00 | −2.03 | APOBEC1;APOBEC2;AICDA |
| virion binding (GO:0046790) | 0.00 | −2.27 | CRP;APCS;CLEC4M |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) | 0.00 | −2.28 | TFAP2A;SOX18;ELF5;HAND2;NR1I2;ALX1;TBX5;GATA2;NKX2-5;FLI1 |
| deaminase activity (GO:0019239) | 0.00 | −2.61 | APOBEC1;APOBEC2;AMPD2;AICDA |
| RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980) | 0.00 | −2.23 | TFAP2A;GATA2;ACTB;FLI1;NR2F6 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814) | 0.00 | −2.36 | APOBEC1;APOBEC2;AMPD2;AICDA |
| growth factor activity (GO:0008083) | 0.00 | −2.29 | BMP10;CLEC11A;NRTN;PTN;INHBA;GDF6;FGF1;TDGF1 |
| enhancer sequence-specific DNA binding (GO:0001158) | 0.00 | −2.22 | TFAP2A;GATA2;ACTB;FLI1;NR2F6 |
| sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) | 0.00 | −2.30 | TFAP2A;GFI1;NR1I2;TBX5;GATA2;FLI1;ETS2;NR2F6;SOX18;ELF5;HAND2;ALX1;NKX2-5 |
| enhancer binding (GO:0035326) | 0.01 | −2.20 | TFAP2A;GATA2;ACTB;FLI1;NR2F6 |
| hormone activity (GO:0005179) | 0.01 | −2.22 | BMP10;ADIPOQ;OXT;INHBA;CGA;METRNL |
| RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982) | 0.01 | −2.21 | TFAP2A;SOX18;GFI1;HAND2;GATA2;NKX2-5;FLI1;ETS2 |
| calcium activated cation channel activity (GO:0005227) | 0.01 | −2.33 | CATSPER4;TRPM5;KCNK18 |
| cytokine activity (GO:0005125) | 0.01 | −2.25 | BMP10;TNFSF4;CMTM5;ADIPOQ;XCL2;SCGB3A1;INHBA;GDF6 |
| quaternary ammonium group binding (GO:0050997) | 0.01 | −2.22 | CRP;CHRNA1;APOA4 |
| receptor serine/threonine kinase binding (GO:0033612) | 0.01 | −1.28 | BMP10;INHBA |
| opsonin binding (GO:0001846) | 0.01 | −1.14 | CRP;APCS |
| cholesterol transporter activity (GO:0017127) | 0.01 | −1.06 | ABCA1;APOA4 |
| olfactory receptor activity (GO:0004984) | 0.01 | −2.09 | OR10J1;OR51B2;OR10J5;OR2F1;OR9A2;OR51B6;OR51B5;OR52B4;OR10G7;OR7D4;OR2A5;OR2A2 |
| sterol transporter activity (GO:0015248) | 0.01 | −1.20 | ABCA1;APOA4 |
| passive transmembrane transporter activity (GO:0022803) | 0.01 | −2.25 | CHRNA1;GJD3;ASIC5;TRPV6;CATSPER4;GABRA5;GJA5;PDPN;ORAI1;TRPM5;KCNK18;KCNK4 |
| channel activity (GO:0015267) | 0.01 | −2.23 | CHRNA1;GJD3;ASIC5;TRPV6;CATSPER4;GABRA5;GJA5;PDPN;ORAI1;TRPM5;KCNK18;KCNK4 |
| protein homodimerization activity (GO:0042803) | 0.02 | −2.13 | CRP;TBX1;TFAP2A;CADM3;ADIPOQ;FAM109B;APOA4;GDF6;PRLR;TERT;HAND2;CHMP4C;CTSE;NKX2-5;UGT1A8;S100A10 |
| antioxidant activity (GO:0016209) | 0.02 | −1.87 | TP53INP1;APOA4;LTC4S;S100A9 |
| aspartic-type endopeptidase activity (GO:0004190) | 0.02 | −1.85 | PIP;CTSE;ASPRV1 |
| RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) | 0.02 | −1.91 | TFAP2A;SOX18;HAND2;GATA2;NKX2-5;FLI1 |
| ion gated channel activity (GO:0022839) | 0.02 | −1.86 | CATSPER4;TRPM5;KCNK18 |
| aspartic-type peptidase activity (GO:0070001) | 0.02 | −1.76 | PIP;CTSE;ASPRV1 |
| enzyme activator activity (GO:0008047) | 0.02 | −2.15 | DAOA;PCOLCE2;TBC1D21;NCF4;ARHGDIB;PLXNB2;ARHGEF10L;APOA4;PTPLAD1;LTC4S;RASAL3;PRLR |
| structural constituent of muscle (GO:0008307) | 0.02 | −1.71 | NEBL;MYOT;TCAP |
| phospholipid transporter activity (GO:0005548) | 0.02 | −1.68 | ABCA1;PITPNM3;PLSCR4 |
| drug transmembrane transporter activity (GO:0015238) | 0.02 | −1.11 | SLC47A1;ABCB4 |
| substrate-specific channel activity (GO:0022838) | 0.02 | −2.03 | CHRNA1;GJD3;ASIC5;TRPV6;CATSPER4;GABRA5;PDPN;ORAI1;TRPM5;KCNK18;KCNK4 |
| scavenger receptor activity (GO:0005044) | 0.03 | −1.55 | TMPRSS5;STAB2;HHIPL1 |
| RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978) | 0.03 | −1.80 | TFAP2A;SOX18;NKX2-5;ACTB;FLI1;ETS2 |
| lipid transporter activity (GO:0005319) | 0.03 | −1.68 | ABCA1;PITPNM3;PLSCR4;APOA4 |
Only GO categories with P-value less than 5% are represented.