# GREAT version 4.0.4 Species assembly: hg38 Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included # Ontology Term Name Binom Rank Binom Raw P-Value Binom FDR Q-Val Binom Fold Enrichment Binom Observed Region Hits Binom Region Set Coverage Hyper Rank Hyper FDR Q-Val Hyper Fold Enrichment Hyper Observed Gene Hits Hyper Total Genes Hyper Gene Set Coverage GO Biological Process peptidyl-serine modification 69 7.767888e-7 0.00014814150462608697 2.10901 52 0.04433078 247 0.013996104191093118 1.913043 32 184 0.01874634 GO Biological Process histone phosphorylation 95 0.00001269195 0.0017580354742105263 4.418775 13 0.01108269 294 0.025971618418027212 3.535714 9 28 0.005272408 GO Biological Process mesoderm morphogenesis 98 0.0000193611 0.0025997215806122446 2.379028 30 0.02557545 86 0.000301563119872093 3.188406 20 69 0.01171646 GO Biological Process peptidyl-serine phosphorylation 102 0.00002774768 0.0035797227560784317 2.004596 42 0.03580563 274 0.019995638386131387 1.933333 29 165 0.01698887 GO Biological Process histone-serine phosphorylation 105 0.00003867893 0.004847390855904763 5.728705 9 0.007672634 259 0.016219305814671816 5.5 6 12 0.003514938 GO Biological Process anterior/posterior axis specification 111 0.0000596077 0.007066465984684685 2.699761 21 0.01790281 167 0.0024143557986227547 3.235294 15 51 0.008787346 GO Biological Process positive regulation of stem cell proliferation 112 0.00006088928 0.007153946745714285 2.695606 21 0.01790281 63 0.00006386050167619049 4.459459 15 37 0.008787346 GO Biological Process histone H3-S28 phosphorylation 116 0.00007861082 0.00891758431362069 18.35632 4 0.00341006 324 0.030465306596604937 11 3 3 0.001757469 GO Biological Process face development 118 0.00008846268 0.009865088187457629 2.6994 20 0.0170503 207 0.006452900248792271 3.08 14 50 0.008201523 GO Biological Process mesoderm formation 125 0.0001191787 0.0125461801064 2.252467 27 0.0230179 152 0.001749201629736842 2.955224 18 67 0.01054482 GO Biological Process positive regulation of metanephros development 138 0.0001931582 0.018418614157971015 4.177397 10 0.008525149 337 0.03453059047121662 4.714286 6 14 0.003514938 GO Biological Process artery development 144 0.000287982 0.026316355125 2.007598 31 0.02642796 75 0.000110375481288 3.184211 22 76 0.01288811 GO Biological Process artery morphogenesis 147 0.0003137529 0.02808622048367347 2.116168 27 0.0230179 88 0.0003207066619772727 3.413793 18 58 0.01054482 GO Biological Process mammary gland epithelium development 148 0.0003204829 0.028494827575000003 2.229074 24 0.02046036 190 0.004436265274263158 3.055556 15 54 0.008787346 GO Biological Process regulation of stem cell proliferation 159 0.0004566261 0.037790835533962265 2.216115 23 0.01960784 147 0.0014262852114285715 3.116667 17 60 0.009958992 GO Molecular Function signal transducer, downstream of receptor, with serine/threonine kinase activity 58 0.0005413008 0.03940296513103449 2.284227 21 0.01790281 36 0.015839900227777776 2.671429 17 70 0.009958992 Human Phenotype Aplasia of the fingers 7 0.000002534335 0.002415945350714286 3.481736 20 0.0170503 89 0.04813512316853933 3.235294 10 34 0.005858231 Human Phenotype Intestinal malrotation 8 0.000003424795 0.002856707129375 3.54855 19 0.01619778 78 0.04431393862820513 3.102564 11 39 0.006444054 Human Phenotype Hypodontia 10 0.000004159448 0.0027755996504 2.812748 26 0.02216539 9 0.015002498105555555 3.065574 17 61 0.009958992 Human Phenotype Abnormality of the choanae 32 0.00003588603 0.007483358693437499 2.887478 20 0.0170503 62 0.034979930577419355 3.069767 12 43 0.007029877 Human Phenotype Hypopituitarism 48 0.00007440026 0.010343186145416667 2.656617 21 0.01790281 26 0.020453576558461535 3.142857 14 49 0.008201523 Human Phenotype Wide nasal base 50 0.00008085923 0.0107914728358 5.195559 9 0.007672634 22 0.020650896701818182 11 4 4 0.002343292 Human Phenotype Esophageal atresia 78 0.0002473133 0.021157969883333332 2.841737 16 0.01364024 42 0.023745806947619047 3.793103 10 29 0.005858231 Human Phenotype Gastrointestinal atresia 92 0.0003620821 0.026262759275000002 2.560259 18 0.01534527 51 0.03133837064705882 3.361111 11 36 0.006444054 Human Phenotype Anterior hypopituitarism 121 0.0007027031 0.038753204845454546 2.41546 18 0.01534527 55 0.031167204985454548 2.979167 13 48 0.0076157 Human Phenotype Abnormality of the anterior pituitary 128 0.0008453903 0.04407257399921875 2.00882 26 0.02216539 41 0.02387418740731707 2.571429 18 77 0.01054482 Mouse Phenotype Single KO abnormal vagina morphology 41 0.0001206457 0.026945187192682928 2.563684 21 0.01790281 176 0.016694433667613636 2.918367 13 49 0.0076157 Mouse Phenotype Single KO abnormal retinal ganglion cell morphology 42 0.0001341947 0.02925763971190476 2.421381 23 0.01960784 282 0.04897118139716312 2.508772 13 57 0.0076157 Mouse Phenotype incomplete rostral neuropore closure 26 0.000003564068 0.001310617467230769 2.394519 35 0.02983802 272 0.010340738215808823 2.315789 20 95 0.01171646 Mouse Phenotype abnormal neuropore morphology 31 0.000005257158 0.0016214092786451613 2.350919 35 0.02983802 305 0.01416802270819672 2.244898 20 98 0.01171646 Mouse Phenotype abnormal brain meninges morphology 93 0.0002322963 0.02388155832580645 4.080473 10 0.008525149 370 0.02285138950054054 4.714286 6 14 0.003514938 Mouse Phenotype abnormal meninges morphology 119 0.0004655631 0.03740545209327731 3.236827 12 0.01023018 372 0.022967408498387097 3.666667 8 24 0.004686585 Mouse Phenotype absent teeth 121 0.0004734196 0.03740797351735537 3.448144 11 0.009377664 191 0.004369673841518325 4.888889 8 18 0.004686585 Mouse Phenotype dry eyes 130 0.0005614195 0.04129024491923077 3.978597 9 0.007672634 452 0.042544355887168143 4.125 6 16 0.003514938