# 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 negative regulation of intrinsic apoptotic signaling pathway 62 2.173575e-23 4.613237649193548e-21 2.083113 228 0.01362007 823 0.031762979946537054 1.279347 65 94 0.006404572 GO Biological Process cellular response to epidermal growth factor stimulus 66 8.132522e-23 1.6214523787575758e-20 2.34433 171 0.01021505 607 0.008061697675453047 1.509319 31 38 0.003054488 GO Biological Process mitochondrial transmembrane transport 70 2.285579e-22 4.2965620087142864e-20 2.281942 177 0.01057348 367 0.0004011271953678475 1.426609 64 83 0.00630604 GO Biological Process response to epidermal growth factor 80 2.266716e-21 3.7284644805000004e-19 2.235885 176 0.01051374 571 0.005895473978108581 1.497727 34 42 0.003350084 GO Biological Process protein refolding 89 7.047507e-21 1.0420016248651686e-18 5.41273 50 0.002986858 862 0.03674059968909512 1.585828 18 21 0.001773574 GO Biological Process high-density lipoprotein particle remodeling 96 2.16293e-20 2.9647912364583334e-18 4.397032 60 0.003584229 416 0.0009015771810817308 1.850133 17 17 0.001675042 GO Biological Process regulation of necrotic cell death 98 4.997879e-20 6.710927526632653e-18 3.872862 68 0.004062127 893 0.042104511904815234 1.507516 22 27 0.002167701 GO Biological Process reverse cholesterol transport 99 8.380618e-20 1.1139449723434344e-17 4.034527 64 0.003823178 416 0.0009015771810817308 1.850133 17 17 0.001675042 GO Biological Process response to cadmium ion 104 2.5631e-19 3.243060855769231e-17 2.410313 135 0.008064516 544 0.004227669819669118 1.435448 45 58 0.004433934 GO Biological Process regulation of cholesterol homeostasis 113 2.217719e-18 2.582563214247788e-16 4.03348 59 0.003524492 651 0.012528756668663595 1.850133 12 12 0.001182383 GO Biological Process protein-lipid complex subunit organization 119 3.981924e-18 4.403204866890757e-16 2.390133 128 0.007646356 916 0.04643630091921397 1.377759 35 47 0.003448616 GO Biological Process liver regeneration 122 4.277677e-18 4.613930462540984e-16 2.479096 119 0.007108722 761 0.022454285890932988 1.480106 28 35 0.002758893 GO Biological Process regulation of necroptotic process 126 1.131705e-17 1.1819131821428572e-15 4.267708 53 0.003166069 666 0.013823717203453453 1.66512 18 20 0.001773574 GO Biological Process cholesterol efflux 130 2.351232e-17 2.3799893760000003e-15 3.160088 76 0.004540024 474 0.0023500366603164554 1.695955 22 24 0.002167701 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 148 2.32631e-16 2.0683725195945947e-14 2.653904 94 0.005615293 421 0.0009012070864608076 1.707815 24 26 0.002364765 GO Biological Process plasma lipoprotein particle organization 149 2.759283e-16 2.4368728185906037e-14 2.376486 115 0.006869773 926 0.049365974289416845 1.3876 33 44 0.003251552 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 171 2.108296e-15 1.6224015826900584e-13 2.472677 100 0.005973716 716 0.016872528611173186 1.608811 20 23 0.001970638 GO Biological Process RNA phosphodiester bond hydrolysis, endonucleolytic 197 2.79549e-14 1.867302178172589e-12 2.106642 129 0.007706093 385 0.000594193106935065 1.453676 55 70 0.005419253 GO Biological Process mitochondrial translational termination 199 2.915549e-14 1.92792509e-12 2.091786 131 0.007825568 679 0.014464155744329897 1.318486 62 87 0.006108976 GO Biological Process mitochondrial genome maintenance 241 8.670814e-13 4.7344083579253115e-11 2.725708 68 0.004062127 862 0.03674059968909512 1.585828 18 21 0.001773574 GO Cellular Component large ribosomal subunit 38 1.485737e-20 6.756193515789473e-19 2.130649 188 0.01123059 144 0.039080807999999995 1.238785 77 115 0.007586954 GO Cellular Component intrinsic component of mitochondrial membrane 63 1.428438e-13 3.918001371428571e-12 2.037769 132 0.007885305 106 0.005159491743396226 1.394716 49 65 0.004828062 GO Cellular Component integral component of mitochondrial membrane 64 3.787274e-13 1.02256398e-11 2.020887 130 0.00776583 109 0.007083151266055046 1.3876 48 64 0.00472953 GO Cellular Component nuclear origin of replication recognition complex 177 0.000004839078 0.00004724252420338982 3.479311 19 0.001135006 147 0.04620528587755102 1.850133 9 9 0.0008867869 GO Cellular Component Seh1-associated complex 257 0.0002144347 0.0014418021852140078 2.083721 30 0.001792115 128 0.018161226000000003 1.726791 14 15 0.001379446 GO Molecular Function cyclin-dependent protein serine/threonine kinase inhibitor activity 23 2.63684e-14 4.8403210782608695e-12 4.168327 43 0.002568698 134 0.01952897757761194 1.850133 12 12 0.001182383 GO Molecular Function endoribonuclease activity 33 2.008066e-12 2.5691074703030303e-10 2.107239 110 0.006571087 91 0.001687627583076923 1.486714 45 56 0.004433934 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 47 2.388857e-10 2.1459051604255322e-8 2.232294 78 0.004659498 96 0.0019883456224999998 1.65874 26 29 0.002561829 Human Phenotype Increased serum lactate 7 2.606356e-17 2.4846019411428572e-14 2.007491 180 0.01075269 92 0.0003299686799782609 1.406101 76 100 0.007488423 Human Phenotype Progressive external ophthalmoplegia 12 3.558381e-15 1.97875636775e-12 3.753278 52 0.003106332 252 0.03562312201587302 1.726791 14 15 0.001379446 Human Phenotype Abnormal CSF metabolite level 18 5.808488e-14 2.153335579111111e-11 2.234764 110 0.006571087 179 0.008740157466480446 1.409625 48 63 0.00472953 Human Phenotype Increased CSF lactate 39 1.542435e-11 2.6391458346153847e-9 2.153617 96 0.005734767 249 0.03534449587148594 1.37165 43 58 0.004236871 Human Phenotype Enlarged thorax 124 1.035424e-7 0.0000055720841548387095 2.04367 67 0.004002389 230 0.02663566827478261 1.608811 20 23 0.001970638 Human Phenotype Ectropion 148 2.648359e-7 0.000011940878112837837 2.025318 64 0.003823178 237 0.030522273843881856 1.565497 22 26 0.002167701 Human Phenotype 3-Methylglutaconic aciduria 253 0.000007964718 0.00021007337238735177 2.29078 36 0.002150538 215 0.019237504795813955 1.850133 12 12 0.001182383 Mouse Phenotype Single KO absent hypoglossal nerve 27 1.735661e-13 5.88646213962963e-11 3.435805 51 0.003046595 371 0.03320402245822103 1.726791 14 15 0.001379446 Mouse Phenotype Single KO absent segment of posterior cerebral artery 43 3.44305e-12 7.332095081395348e-10 2.618529 69 0.004121864 172 0.0013759334819186048 1.766036 21 22 0.002069169 Mouse Phenotype Single KO abnormal cerebral artery morphology 120 8.647724e-9 6.598934055666668e-7 2.146812 70 0.004181601 213 0.003639181388591549 1.695955 22 24 0.002167701 Mouse Phenotype Single KO abnormal hypoglossal nerve topology 189 3.126248e-7 0.000015146588855026455 2.283167 48 0.002867384 400 0.044843156764999996 1.644563 16 18 0.00157651 Mouse Phenotype absent hypoglossal nerve 48 1.735661e-13 3.457219754375e-11 3.435805 51 0.003046595 549 0.023428385857923496 1.726791 14 15 0.001379446 Mouse Phenotype absent segment of posterior cerebral artery 60 3.44305e-12 5.486500175e-10 2.618529 69 0.004121864 274 0.0009018315546350365 1.766036 21 22 0.002069169 Mouse Phenotype pancytopenia 87 4.473773e-11 4.916522258965517e-9 2.159099 91 0.005436081 533 0.02149569314634146 1.531145 24 29 0.002364765 Mouse Phenotype abnormal cerebral artery morphology 180 8.647724e-9 4.5933827313333333e-7 2.146812 70 0.004181601 329 0.0024600136237386016 1.695955 22 24 0.002167701 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 196 1.449767e-8 7.072052187244898e-7 2.202787 64 0.003823178 661 0.04218379736459909 1.480106 24 30 0.002364765 Mouse Phenotype abnormal hypoglossal nerve topology 273 3.126248e-7 0.000010948738874725275 2.283167 48 0.002867384 599 0.0312665130851419 1.644563 16 18 0.00157651