Table 3 Functional annotation of genes located in the top 10 cold (1 in chr5, 5 in chr9, 1 in chr13, 1 in chr15, 1 in chr18 and 1 in chr22) and the top 10 hot (3 in chr3, 4 in chr17 and 3 in chr20) chromosomal interaction regions by using DAVID
GO term | Tissue expression | Disease | Pathways | |
|---|---|---|---|---|
Top 10 cold regions (45 genes) | phosphatidylcholine biosynthetic process (2 genes); phosphatidylcholine metabolic process (2 genes); ethanolamine and derivative metabolic process (2 genes); intracellular organelle lumen (5 genes); glycerophospholipid biosynthetic process (2 genes). | Thalamus_3rd (7 genes); testis_normal_3rd (14 genes); brain_normal_3rd (3 genes); Cardiac Myocytes_3rd (10 genes); Testis Seminiferous Tubule_3rd (6 genes). | NA | NA |
Top 10 hot regions (69 genes) | protein amino acid dephosphorylation (4 genes); dephosphorylation (4 genes); phosphoprotein phosphatase activity (4 genes); intracellular receptor-mediated signaling pathway (3 genes); clathrin coat of trans-Golgi network vesicle (2 genes). | breast (mammary gland) cancer_disease_3rd (32 genes); mammary gland_normal_3rd (33genes); mammary gland_neoplasia_3rd (6 genes); ovary_neoplasia_3rd (3 genes); placenta_normal_3rd (4 genes). | Many sequence variants affecting diversity of adult human height (4 genes); breast cancer (4 genes); CANCER (5 genes). | REACTOME_PATHWAY: Membrane Trafficking (2 genes) |