Table 1. Features of the Blood Expression Axes.
Axis | Gene Ontology1 | Abnormal mouse phenotype1 | TF/miR1 , 2 | Human Disease1 | N genes3 |
Axis 1 | Translation | T cell physiology (4.0E-06) | ELK1 | T-negative SCID | 866 |
Ribosome constituents | Leukopoiesis (4.0E-04) | NRF2 | anemia | ||
Axis 2 | Oxygen transporter activity | Platelet aggregation (9.0E-04) | GATA3 | hemolytic anemia | 237 |
Wound healing | Haematopoiesis (8.0E-06) | ||||
Axis 3 | B-cell activation | B-cell morphology (4.0E-19) | miR-486 | SLE | 99 |
External to plasma membrane | Immunoglobulin level (4.0E-16) | miR-146a | Immunodeficiency | ||
Axis 4 | mRNA metabolism, RNA splicing | Embryonic lethality (3.0E-10) | ELK1, NRF1 | 982 | |
Intracellular transport | Low embryonic growth (5.0E-06) | miR-590, 548, 561 | |||
Axis 5 | Cytokine receptor activity | Adaptive immunity (7.0E-14) | ETS2, PEA3, AP1 | 1028 | |
Inflammatory response | Innate immunity (3.0E-14) | miR-1207 | Liver disease | ||
Axis 6 | miR-483, 590 | 550 | |||
Axis 7 | Viral response | Response to infection (4.0E-13) | IRF, ISRE, ICSBP | 169 | |
Interferon-mediated signaling | Susceptibility to viral infection (3.0E-12) | ||||
Axis 8 | RNA processing | B cell activation (0.03) | NRF1, ARNT | 571 | |
miR-590, 548, 607 | |||||
Axis 9 | Signal transduction by phosphorylation | B cell number (7.0E-05) | STAT5A, STAT6 | 242 | |
Programmed cell death | T-cell morphology (2.0E-04) | miR-548, 155, 34b, 603, 103 |
See Dataset S3 for details of the GO catergories, number of genes, and significance levels.
Simply reflecting enrichment frm the ToppFun analysis, not meant to imply that these are the only regulatory factors or that there is direct evidence for their involvement in regulation of the axes. Dataset S3 shows that each bind only a subset of genes in the axis.
The number of genes associated with each Axis in a multivariate model including all 9 Axes, at Bonferroni significance and in common between the CHDWB and Morocco studies.