# 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 regulation of intrinsic apoptotic signaling pathway 24 3.251896e-28 1.7829874776666667e-25 2.069807 282 0.02146936 373 0.0012587761812600537 1.338062 99 155 0.01104541 GO Biological Process mitochondrial membrane organization 44 2.335193e-24 6.983819247045454e-22 2.049856 247 0.01880472 189 0.000008525221767195767 1.486736 88 124 0.009818141 GO Biological Process positive regulation of mRNA catabolic process 48 8.262838e-24 2.2652226092083332e-21 3.227366 104 0.007917777 627 0.02050114904832536 1.675957 20 25 0.002231396 GO Biological Process protein-lipid complex assembly 74 1.080897e-20 1.9220977868918917e-18 3.499459 80 0.006090598 719 0.03519214409179416 1.589269 22 29 0.002454535 GO Biological Process regulation of mitochondrial membrane permeability 80 2.646776e-20 4.353615673e-18 2.256162 163 0.01240959 185 0.000007220158362702703 1.63578 57 73 0.006359478 GO Biological Process response to epidermal growth factor 91 2.662622e-19 3.85026845032967e-17 2.331442 144 0.01096308 308 0.00041429663155519473 1.695909 34 42 0.003793373 GO Biological Process cellular response to epidermal growth factor stimulus 92 5.643198e-19 8.07161331326087e-17 2.376221 136 0.01035402 334 0.0007127150789221558 1.709035 31 38 0.003458663 GO Biological Process nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 112 6.35422e-18 7.465641158928571e-16 2.169629 155 0.01180053 335 0.000730977343522388 1.402549 79 118 0.008814013 GO Biological Process regulation of mRNA catabolic process 113 6.532406e-18 7.607073500353983e-16 2.556535 111 0.008450704 770 0.04287161184935065 1.554315 23 31 0.002566105 GO Biological Process plasma lipoprotein particle assembly 121 2.042567e-17 2.2213338142975208e-15 3.508819 66 0.005024743 755 0.04063028613245033 1.611497 20 26 0.002231396 GO Biological Process regulation of membrane permeability 126 2.635036e-17 2.7519395812698412e-15 2.05717 169 0.01286639 213 0.00002286911876901408 1.577675 61 81 0.006805757 GO Biological Process mitochondrial transmembrane transport 132 6.838757e-17 6.817515406287878e-15 2.234579 136 0.01035402 372 0.0012550474072043011 1.463938 58 83 0.006471048 GO Biological Process regulation of cholesterol biosynthetic process 139 1.787493e-16 1.6922029055395684e-14 2.55921 101 0.00768938 380 0.0014492342600789473 1.646029 33 42 0.003681803 GO Biological Process mitochondrial translational termination 143 3.125738e-16 2.876334709230769e-14 2.360637 116 0.008831367 495 0.007322119525252525 1.396631 58 87 0.006471048 GO Biological Process regulation of cholesterol metabolic process 146 5.625292e-16 5.070083385479453e-14 2.392014 111 0.008450704 433 0.0034974464288683605 1.541564 39 53 0.004351222 GO Biological Process apoptotic mitochondrial changes 153 1.075739e-15 9.252058497385621e-14 2.147264 137 0.01043015 407 0.00244480867009828 1.526825 43 59 0.004797501 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 164 3.536551e-15 2.837650890792683e-13 2.678624 85 0.00647126 796 0.046112276967336684 1.639523 18 23 0.002008256 GO Biological Process mitochondrial translation 166 3.793665e-15 3.0072793816265057e-13 2.110934 137 0.01043015 405 0.002444080204271605 1.390104 71 107 0.007921455 GO Biological Process mitochondrial translational elongation 192 1.82398e-14 1.2500912927083334e-12 2.275648 110 0.008374572 649 0.023818418550077044 1.355553 55 85 0.006136338 GO Biological Process translational termination 193 1.841391e-14 1.2554851901036269e-12 2.139782 126 0.009592691 413 0.0026925882076029055 1.411332 64 95 0.007140466 GO Cellular Component ficolin-1-rich granule lumen 38 1.250197e-18 5.685106357894738e-17 2.027294 190 0.01446517 89 0.002285945959550562 1.351578 80 124 0.008925583 GO Cellular Component large ribosomal subunit 41 1.085173e-17 4.573607180487804e-16 2.181004 151 0.011496 70 0.0002496653897142857 1.42092 78 115 0.008702443 GO Cellular Component mitochondrial ribosome 44 2.825005e-16 1.1094565090909093e-14 2.500759 104 0.007917777 111 0.01828754854054054 1.355553 55 85 0.006136338 GO Cellular Component mitochondrial large ribosomal subunit 47 2.766856e-15 1.017261099574468e-13 2.953267 73 0.00555767 120 0.0295733952 1.437708 35 51 0.003904943 GO Cellular Component peptidase complex 53 3.147118e-14 1.0260792271698112e-12 2.068792 134 0.01020175 102 0.01572782061176471 1.356954 57 88 0.006359478 GO Cellular Component mitochondrial nucleoid 120 3.501853e-8 5.042668319999999e-7 2.178285 62 0.004720213 116 0.023607906206896553 1.49639 30 42 0.003347094 GO Cellular Component zonula adherens 174 0.000006084544 0.000060425816275862074 2.991045 23 0.001751047 124 0.03749989935483871 2.094946 8 8 0.0008925583 GO Cellular Component pronucleus 245 0.000123189 0.0008688595591836735 2.26016 27 0.002055577 122 0.03078889495081967 1.81562 13 15 0.001450407 GO Molecular Function insulin-like growth factor I binding 74 3.179587e-8 0.0000018140832856756758 2.560637 45 0.003425961 75 0.007847127415999999 2.094946 12 12 0.001338837 Human Phenotype Increased serum lactate 2 1.493503e-19 4.9830727595e-16 2.245761 158 0.01202893 23 1.4437667984347826e-7 1.634058 78 100 0.008702443 Human Phenotype Exercise intolerance 7 1.628721e-15 1.5526364618571428e-12 2.431832 104 0.007917777 104 0.001075167234326923 1.526318 51 70 0.005690059 Human Phenotype Abnormality of mitochondrial metabolism 17 2.485791e-13 9.757460790000002e-11 2.123247 117 0.008907499 91 0.0006216915115934066 1.548438 51 69 0.005690059 Human Phenotype Abnormality of the mitochondrion 19 4.980144e-13 1.7490789953684213e-10 2.092354 118 0.008983632 97 0.0007434609440206184 1.534327 52 71 0.005801629 Human Phenotype Abnormal CSF metabolite level 32 1.68355e-10 3.510727859375e-8 2.174922 84 0.006395128 124 0.002125074431532258 1.529643 46 63 0.00513221 Human Phenotype Increased CSF lactate 50 5.934036e-9 7.9195644456e-7 2.115701 74 0.005633803 156 0.00499797861602564 1.51703 42 58 0.004685931 Human Phenotype Glycosuria 101 2.858639e-7 0.00001888682974950495 2.135164 56 0.004263418 152 0.004771216950657895 1.733748 24 29 0.002677675 Human Phenotype Increased muscle lipid content 159 0.000004574265 0.00019197528518867922 2.69216 28 0.002131709 169 0.007031794179881657 1.874425 17 19 0.001896686 Human Phenotype Abnormal activity of mitochondrial respiratory chain 170 0.00000638751 0.00025072855429411763 2.456223 32 0.002436239 248 0.031615624616935484 1.833078 14 16 0.001561977 Human Phenotype Increased intramyocellular lipid droplets 199 0.00001813905 0.0006082506565326634 2.594497 26 0.001979444 219 0.019210104424657534 1.848482 15 17 0.001673547 Human Phenotype Acute encephalopathy 205 0.00001976199 0.0006432768744878049 2.072071 41 0.003121431 271 0.040833761405904064 1.658499 19 24 0.002119826 Human Phenotype Decreased activity of mitochondrial respiratory chain 234 0.00003533905 0.0010077670113247863 2.396314 28 0.002131709 297 0.048839911680134684 1.81562 13 15 0.001450407 Human Phenotype Increased hepatocellular lipid droplets 507 0.001474891 0.019412125528599607 2.26567 18 0.001370384 288 0.045720129010416666 1.920367 11 12 0.001227268 Mouse Phenotype Single KO extramedullary hematopoiesis 1 1.112117e-34 1.0183655369000001e-30 2.336132 268 0.0204035 207 0.00693552949468599 1.359877 74 114 0.008256164 Mouse Phenotype Single KO abnormal cellular replicative senescence 121 6.840926e-11 5.177054494380165e-9 2.048356 101 0.00768938 173 0.00257548141150289 1.536294 44 60 0.004909071 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 168 3.724083e-9 2.029846906607143e-7 2.020758 85 0.00647126 335 0.03211742580597014 1.833078 14 16 0.001561977 Mouse Phenotype Single KO subcutaneous edema 201 1.955712e-8 8.909678997014925e-7 2.15428 66 0.005024743 234 0.011605491795299145 1.675957 24 30 0.002677675 Mouse Phenotype Single KO heterochrony 274 2.81864e-7 0.000009419812583941605 2.268912 49 0.003730491 180 0.0034387449978333334 1.971714 16 17 0.001785117 Mouse Phenotype Single KO dilated kidney collecting duct 354 0.000002966161 0.00007672637366384181 2.251632 41 0.003121431 336 0.03212043949702381 1.764165 16 19 0.001785117 Mouse Phenotype Single KO increased cellular sensitivity to ultraviolet irradiation 371 0.000004386638 0.00010827073899191376 2.190262 42 0.003197564 249 0.013071937443373495 1.745788 20 24 0.002231396 Mouse Phenotype Single KO increased hepatocyte proliferation 401 0.000008587037 0.00019608852321446383 2.252888 37 0.002816901 387 0.04668969740310077 1.920367 11 12 0.001227268 Mouse Phenotype Single KO abnormal DNA replication 468 0.00002974677 0.0005820324207051282 2.054249 40 0.003045299 192 0.005150235418229167 1.821692 20 23 0.002231396 Mouse Phenotype extramedullary hematopoiesis 2 8.484703e-38 4.05611226915e-34 2.018344 407 0.03098592 260 0.0013845872469230769 1.316823 110 175 0.01227268 Mouse Phenotype abnormal cellular replicative senescence 62 6.020442e-16 9.284104187419355e-14 2.059148 154 0.0117244 178 0.00016342402446067414 1.52133 61 84 0.006805757 Mouse Phenotype early cellular replicative senescence 86 3.256224e-14 3.6200881004651165e-12 2.055271 136 0.01035402 164 0.00007882082570121951 1.578384 55 73 0.006136338 Mouse Phenotype increased cellular sensitivity to ultraviolet irradiation 103 3.966518e-13 3.681929960970874e-11 2.851224 65 0.004948611 292 0.002020523837979452 1.745788 25 30 0.002789245 Mouse Phenotype subcutaneous edema 247 1.955712e-8 7.570268191093117e-7 2.15428 66 0.005024743 402 0.0070534802917910444 1.675957 24 30 0.002677675 Mouse Phenotype heterochrony 334 2.81864e-7 0.000008068567976047904 2.268912 49 0.003730491 297 0.0021760362778787882 1.971714 16 17 0.001785117 Mouse Phenotype abnormal kidney inner medulla morphology 352 4.341256e-7 0.000011791689947727271 2.174901 52 0.003958888 548 0.022400376175182483 2.094946 9 9 0.001004128 Mouse Phenotype abnormal pharyngeal muscle morphology 380 0.000001033961 0.00002601500295 2.794227 30 0.002283974 592 0.03186841188344595 1.920367 11 12 0.001227268