Functional enrichment in lcSSc twins
| Enrichment | Hit in query list |
| PW: ensemble of genes encoding ECM and ECM-associated proteins (7.04E−11) | ADAMTSL1, ADAMTS5, ANGPTL1, BMP6, CHRDL1, CILP2, CLEC14A, COL7A1, COL9A3, COL14A1, COL23A1, CRISPLD2, CTSB, CXCL1, CXCL6, EDA, ELFN2, EREG, F7, FBLN7, FBN2, FGF5, FGL2, FRAS1, HAPLN3, IL-6, IL11, KAL1, LIF, LOXL3, LOXL4, MMP10, OGN, PCOLCE2, PCSK5, PDGFB, PRG4, RSPO1, SEMA3C, SEMA3E, SRPX2, TGFB3, THBS4, USH2A, WISP1, WNT5A |
| BP: animal organ morphogenesis (4.14E−19) | ACTC1, ADAMTS5, ALDH1A2, ALPL, AR, BMP6, CELSR1, CELSR2, COL7A1, COL14A1, DIO3, DLL4, EDA, EMX2, EPHB2, EREG, ETV4, EYA4, FBN2, FOXF1, FRAS1, HEYL, HHEX, HAND2, HMGA2, HOTTIP, HOXB3, HOXB7, HOXB8, HOXB13, HOXD3, HOXD9, HOXD10, HOXD11, HOXD13, ID3, IL-6, LIF, MAN2A1, NFIB, NKX3-2, NTRK2, PDGFB, PLAG1, RPS6KA1, SEMA3C, SHANK1, SHROOM2, SOBP, SOX8, TACSTD2, TBX2, TBX3, TBX15, TFAP2A, TFAP2B, TGFB3, TMEM100,TSHR, TSPAN12, USH2A, WNT5A, ZFPM2 |
| MF: transcription regulatory region sequence-specific DNA binding (5.82E−10) | AR, ATF5, EBF1, EGR1, EGR3, EMX2, EN1, ETV4, FOS, FOXF1, FOXQ1, GLIS1, HAND2, HEYL, HHEX, HMGA2, HOXB3, HOXB7, HOXC10, HOXD3, HOXD9, HOXD10, HOXD13, KLF5, KLF8, LIF, NFIB, NKX3-2, NFE2L3, PITX1, PLAG1, PRDM6, RUNX3, SOX8, SOX10, TBX2, TBX3, TBX15, TFAP2A, TFAP2B |
| CC: ECM (1.53E-10) | ADAMTSL1, ADAMTS5, ALPL, CLEC14A, COL7A1, COL9A3, COL14A1, COL23A1, CRISPLD2, CTSB, ELFN2, F7, FBN2, FGL2, FRAS1, HAPLN3, KAL1, L1CAM, MMP10, OGN, PCOLCE2, PDGFB, PRG4, PTPRZ1, SEMA3C, SRPX2, TGFB3, THBS4, TLR3, USH2A, WISP1, WNT5A |
| CC: Integral component of plasma membrane (2.38E−08) | ADORA2B, ADRA1D, CADM1, CD9, CD70, CD74, CELSR1, CHRM3, CMKLR1, DLL4, DRD1, EDA, EPHB2, EREG, F2RL1, GPR17, GPR133, HLA-DQA1, HRH2, IL-6, ITGB7, KCNN4, LAT, LGR5, LPHN2, LRFN5, NOTCH3, MSR1, MST1R, NTRK2, NTSR1, PPAP2A, PPAP2B, PODXL, PROCR, PTGER2, PTPRD, PTPRZ1, REEP2, ROS1, SCARA5, SCN1A, SEMA3C, SEMA3E, SHANK1, SLC14A1, SLC16A2, SLC16A5, SYT7, TLR3, TRHDE, TSHR, TSPAN12, TSPAN18 |
This systems level analysis was performed in ToppFun using the 308 DE genes identified in lcSSc twins and validated with unrelated controls.
The p value for each pathway and ontology is shown in parenthesis. Genes in red are upregulated in lcSSc twins, and in blue downregulated.
BP; biological process; CC, cellular component; DE, differentially expressed; ECM, extracellular matrix; lcSSc, limited cutaneous SSc; MF, molecular function; PW, pathway; SSc, systemic sclerosis.