Table 2 Top enriched GO Molecular Function terms from analysis of 2123 genes carrying filtered variant in SHC AIS cohort
Term | Count | P-Value | Genes | Fold enrichment |
|---|---|---|---|---|
alpha-1,4-glucosidase activity | 5 | 1.12 ×10−3 | GAA, GANC, SI, MGAM, MGAM2 | 9.51 |
carnitine O-octanoyltransferase activity | 3 | 4.86 ×10−2 | CAT, CPT2, CROT | 9.51 |
serotonin:sodium:chloride symporter activity | 3 | 4.82 ×10−2 | HTT, SLC18A2, VAT1 | 9.51 |
inositol 1,4,5-trisphosphate-gated calcium channel activity | 3 | 4.78 ×10−2 | ITPR1, ITPR2, ITPR3 | 9.51 |
phosphatidylcholine flippase activity | 4 | 2.62 ×10−2 | ABCA3, ATP8B1, ATP8B2, ATP10A | 7.61 |
minus-end-directed microtubule motor activity | 13 | 4.95 ×10−8 | DNAH2, DNAH3, DNAH5, DNAH7, DNAH8, DNAH10, DNAH12, DNAH14, DNAH17, DNHD1, DYNC1H1, DYNC2H1 | 7.28 |
DEAD/H-box RNA helicase binding | 5 | 2.58 ×10−2 | AKAP8L, SMAD1, SMAD3, SMAD5, SP7 | 5.95 |
acyl-CoA dehydrogenase activity | 7 | 4.54 ×10−3 | ACAD8, ACAD11, ACADM, ACADS, GCDH, IVD, TECR | 5.55 |
manganese ion transmembrane transporter activity | 5 | 4.76 ×10−3 | ATP2C2, ATP13A1, SLC30A10, SLC39A14, TRPM2 | 5.29 |
dynein light intermediate chain binding | 14 | 2.13 ×10−5 | DNAH1, DNAH2, DNAH3, DNAH5, DNAH7, DNAH8, DNAH10,DNAH12, DNAH14, DNAH17, DNHD1, DYNC1H1, DYNC2H1, HOOK1 | 4.76 |
