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Table Genes Functions Supplemental Table 2 : Gene Description Symbol Entrez Gene Name Molecular Function Canonical Pathway Description Biological process AHDC1 AT-hook DNA binding DNA binding _ Gene mutations: Xia-Gibbs syndrome _ motif containing 1 AQP2 Aquaporin 2 actin binding; channel activity; Apelin endothelial Water chanel protein from kidney collecting tubule. actin filament depolymerization; glycerol transmembrane signaling pathway; Gene mutations: nephrogenic diabetes insipidus apoptotic process; excretion; cell transporter activity eNOS signaling homeostatis; glycerol transport BAIAP3 BAI1 associated protein calcium ion binding; phospholipid _ P53-target gene encodes brain-specific angiogenesis exocytosis; G-protein coupled receptor 3 binding; protein binding; syntaxin inhibitor. Two C2 domains from proteins involved in signaling pathway; regulation of binding signal transduction or membrane trafficking synaptic transmission; retrograde transport BLK BLK proto-oncogene, ATP-binding; kinase activity; PI3K Signaling in B Involved in b cell proliferation and differentiation B cell receptor signaling pathway; cell Src family tyrosine protein binding; transferase lymphocytes; Tec and has a role in B-cell receptor signaling and B-cell differentiation and proliferation; kinase activity kinase signaling development innate immune response; intracellular signal transduction DAAM1 Dishevelled associated actin binding; identical protein PCP pathway; Role of Involved in cell motility, adhesion, cytokinesis, actin cytoskeleton organization; Wnt activator of binding; protein binding; Rho macrophages; reorganization of the actin cytoskeleton, cell polarity and receptor signalling pathway morphogenesis 1 GTPase binding Fibroblasts and movement (activated during Wnt/Fz signalling) and Endothelial Cells in regulates cell growth Rheumatoid Arthritis EBF1 Early B cell factor 1 RNA polymerase II core B cell receptor Transcriptional activator which recognizes variations multicellular organismal promoter proximal region signalling; IL-17 of the palindromic sequence 5- development; positive regulation of sequence-specific DNA binding; Signaling pathway ATTCCCNNGGAATT-3. Named Transcription transcription; DNA-dependent; transcription factor involved in factor COE1 and activates target genes positive regulation of transcription positive regulation of from RNA polymerase II promoter transcription activity; DNA binding EIF4E2 Eukaryotic translation RNA binding; translation initiation _ Recognizes and binds the 7-methylguanosine-containing negative regulation of translation initiation factor 4E factor activity; ubiquitin protein mRNA cap during an early step in the initiation. Acts as family member 2 ligase binding a repressor of translation initiation EMX2 Empty spiracles sequence-specific DNA binding _ Known expressed in three human tissues: dorsal brain development; multicellular homeobox 2 RNA polymerase II transcription telencephalon, olfactory neuroepithelium, and epithelial organismal development; neuron factor activity urogenetial system differentiation; regulation of gene expression FAM149B1 Family with sequence _ _ _ _ similarity 149 member B1 FLT1 Fms related tyrosine ATP binding; vascular endothelial eNOS signalling; IL-8 Binds to VEGFR-1, VEGFR-B and placental growth angiogenesis; blood vessel kinase 1 growth factor-activated receptor signaling; NF-kB factor and plays an important role in angiogenesis and morphogenesis; cell differentiation; cell activity; kinase activity; signalling; Nitric oxide vasculogenesis. Expression of this receptor is found in migration; cell proliferation; cellular transferase activity; protein signalling in the vascular endothelial cells and peripheral blood response to vascular endothelial growth binding; transmembrane signalling cardiovascular system; monocytes factor stimulus; monocyte chemotaxis; receptor activity PTEN signalling; negative regulation of apoptotic process; STAT3 pathway; negative regulation of signal VEGF family ligand- transduction; positive regulation of receptor interactions; kinase activity; vascular endothelial VEGF signaling growth factor signalling pathway FOXD4L3 Forhead box D4 like 6 protein binding; sequence-specific _ _ anatomical structure morphogenesis; cell DNA binding; sequence-sequence differentiation; regulation of DNA binding RNA polymerase II transcription from RNA polymerase II transcription factor activity promoter GPC6 Glypican 6 heparan sulfate proteoglycan _ The glypicans comprise a family of cell migration; glycosaminoglycan binding; protein binding glycosylphosphatidylinositol-anchored heparin sulfate biosynthetic process; regulation of signal proteoglycans, are implicated in the control of cell transduction; retinoid metabolic process; growth and cell division. Putative cell surface coreceptor Wnt receptor signalling pathway for growth factors, extracellular matrix proteins, proteases and anti-proteases. HMGA2 High mobility group 5’-deoxyribose-5-phosphate lyase Regulation of the Belongs to the non-histone chromosomal high mobility cell division; chromatin organization; AT-hook 2 activity; AT DNA binding; C2H2 Epithelial- group (HMG) protein family, as architectural factors and DNA damage response; endodermal / zinc finger domain binding; cAMP Mesenchymal are essential components of the enhancesome. This mesodermal cell differentiation; response element binding; DNA- Transition Pathway protein contains structural DNA-binding domains and epithelial to mesenchymal transition; dependent protein kinase activity; may act as a transcriptional regulating factor. Is involved negative regulation of retroviral genome MH1 domain binding; in adipogenesis and mesenchymal differentiation. replication; negative regulation of transcription regulation apoptotic process; negative regulation of transcription; positive regulation of angiogenesis IGLV8-61 Immunoglobulin Antigen binding _ Participates in the antigen recognition. Membrane- adaptive immune response; lambda variable 8-61 bound antibodies or secreted glycoproteins produced immunoglobulin production by B lymphocytes. In the humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. LOC100131 Uncharacterized _ _ _ _ 655 MCMBP Minichromosome chromatin binding; protein binding _ Encodes a protein which is a component of the cell cycle; cell division; DNA-dependent maintenance complex hexameric minichromosome maintenance (MCM) DNA replication binding protein complex which regulates initiation and elongation of DNA MEI4 Meiotic double- Protein binding _ Required for DNA double-strand breaks formation in DNA recombination; meiotic cell cycle; stranded break unsynapsed regions during meiotic recombination meiotic DNA double-strand break formation protein 4 formation, synapsis MIR3677 microRNA 3677 _ _ Non-coding RNAs involved in post-transcriptional _ regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs NDUFC1 NADH: ubiquinone NADH dehydrogenase _ Subunit of the NADH: ubiquinone oxidoreductase, the mitochondrial electron transport, NADH oxidoreductase subunit (ubiquinone) activity first enzyme complex in the electron transport chain to ubiquinone; mitochondrial respiratory C1 located in the inner mitochondrial membrane chain complex I assembly; oxidation- reduction process OSER1 Oxidative stress _ _ _ cellular response to hydrogen peroxide responsive serine rich 1 RPL34 Ribosomal protein L34 cadherin binding; RNA binding; EIF2 Signaling Component of the 60S subunit belongs to the L34E nuclear-transcribed mRNA catabolic structural constituent of ribosome family of ribosomal proteins. It is located in the process; nonsense-mediated decay; SRP- cytoplasm and overexpression of this gene has been dependent cotranslational protein observed in some cancer cells targeting to membrane; translation initiation SLC46A3 Solute carrier family 46 _ _ Transmembrane protein, transports small molecules transmembrane transport member 3 across membrane. Found in lysosomal membranes where it transports catabolites from the lysosomes to the cytoplasm. Effective transporter of the cytotoxic drug maytansine SNAPC2 Small nuclear RNA sequence-specific DNA binding _ Subunit of the snRNA-activating protein complex regulation of transcription; DNA- activating complex transcription factor activity associated with the TATA box-binding protein. Is dependent; transcription from RNA polypeptide 2 polymerase III promoter necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription SPHK2 Sphinganine kinase ATP binding; sphinganine kinase Ceramide Signaling; One of two sphingosine kinase isozymes, catalyses the blood vessel development; cell activity; nucleotide binding; Ras PDGF Signaling sphingosine phosphorylation into sphingosine 1- proliferation; lipid phosphorylation; GTPase binding; sphingosine-1- phosphate. It mediates many cellular processes including metabolic process; negative regulation phosphate receptor activity; migration, proliferation and apoptosis of apoptotic process; positive regulation transferase activity of cell proliferation; sphingosine metabolic process TMEM17 Transmembrane protein protein binding _ Transmembrane component of the tectonic-like complex cell projection organization; cilium 17 localized at the transition zone of primary cilia and morphogenesis; smoothened signalling acting as a barrier
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