# 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 mammary gland epithelium development 94 7.446612e-10 1.0424464607234042e-7 2.077923 86 0.01907297 358 0.001589070548044693 2.043644 27 54 0.005877231 GO Biological Process mammary gland epithelial cell differentiation 99 1.911483e-9 2.540727757272727e-7 3.037902 40 0.008871147 722 0.04732760107756233 2.404287 10 17 0.002176752 GO Biological Process parasympathetic nervous system development 151 1.490219e-7 0.000012986617099999998 2.649531 38 0.008427589 608 0.022050588243421054 2.497787 11 18 0.002394428 GO Biological Process axonal transport 192 0.000001426403 0.00009776060977604167 2.597457 33 0.007318696 594 0.019311955667171716 1.991243 19 39 0.004135829 GO Biological Process positive regulation of mesonephros development 198 0.000001622476 0.0001078290994141414 2.363248 39 0.008649368 708 0.04357729235875706 2.22943 12 22 0.002612103 GO Biological Process organelle transport along microtubule 237 0.000006208908 0.0003447384825822785 2.019527 49 0.01086715 436 0.004747893961009175 1.857858 30 66 0.006530257 GO Biological Process labyrinthine layer blood vessel development 251 0.000009887096 0.0005183438098167331 2.687428 26 0.005766245 483 0.007978604111801242 2.530226 13 21 0.002829778 GO Biological Process positive regulation of stress fiber assembly 252 0.00001021216 0.0005332611644444444 2.04894 45 0.00998004 466 0.006693630322532189 2.000162 23 47 0.00500653 GO Biological Process establishment of epithelial cell polarity 262 0.000013122 0.0006590549541984733 2.15364 39 0.008649368 203 0.000014001992765517241 2.919491 20 28 0.004353505 GO Biological Process base-excision repair 287 0.00002187541 0.0010029913595470384 2.300897 32 0.007096917 599 0.020351173373956595 1.946328 20 42 0.004353505 GO Biological Process mitochondrion transport along microtubule 300 0.00002955832 0.0012965264429333331 2.940162 20 0.004435573 608 0.022050588243421054 2.497787 11 18 0.002394428 GO Biological Process establishment of mitochondrion localization 318 0.00004015557 0.0016616576906603772 2.788523 21 0.004657352 577 0.017195519829116115 2.452373 12 20 0.002612103 GO Biological Process positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 347 0.00006255669 0.002372286696570605 2.205008 31 0.006875139 629 0.025317330225755167 1.98841 18 37 0.003918154 GO Biological Process positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 379 0.0001091116 0.0037883892992084433 2.23651 28 0.006209803 508 0.009805545415944882 2.255055 16 29 0.003482804 GO Biological Process 4-hydroxyproline metabolic process 719 0.001991806 0.03645365111821975 2.406418 15 0.00332668 711 0.04422253146554149 2.724859 8 12 0.001741402 GO Cellular Component cleavage furrow 51 0.000001403664 0.00004755943905882353 2.267204 43 0.009536483 74 0.012323839135135135 1.886441 24 52 0.005224205 GO Cellular Component axon cytoplasm 54 0.00000161994 0.00005183808 2.581679 33 0.007318696 80 0.0277114392 1.941462 19 40 0.004135829 GO Cellular Component transcription factor AP-1 complex 68 0.00001839041 0.0004673327717647059 6.324053 9 0.001996008 76 0.0198993888 4.087288 5 5 0.001088376 GO Cellular Component BLOC-1 complex 157 0.002162684 0.02380329905732484 2.849547 11 0.002439565 78 0.02257095876923077 2.497787 11 18 0.002394428 GO Cellular Component compact myelin 175 0.003335934 0.03293996544 2.206777 16 0.003548459 85 0.03702575435294117 2.627542 9 14 0.001959077 GO Molecular Function uracil DNA N-glycosylase activity 25 2.356771e-8 0.0000039801148648 14.33831 9 0.001996008 101 0.03658528535841584 4.087288 5 5 0.001088376 GO Molecular Function double-stranded RNA binding 33 3.877196e-7 0.00004960461064242425 2.160663 53 0.01175427 72 0.009224659527777778 1.857858 30 66 0.006530257 GO Molecular Function protein kinase B binding 34 8.435865e-7 0.00010475359420588235 5.718132 13 0.002883123 85 0.016239649811764706 3.065466 9 12 0.001959077 GO Molecular Function Ral GTPase binding 51 0.000008665824 0.0007173942927058823 3.81245 16 0.003548459 99 0.03543896477171717 2.829661 9 13 0.001959077 GO Molecular Function mRNA 5'-UTR binding 58 0.0000209838 0.001527475924137931 3.121119 19 0.004213795 94 0.02495984866595745 2.415215 13 22 0.002829778 GO Molecular Function leucine zipper domain binding 60 0.00002452959 0.001726065483 3.203002 18 0.003992016 105 0.04078990807619048 2.972573 8 11 0.001741402 GO Molecular Function MRF binding 79 0.0001179166 0.0063018213316455695 4.079302 11 0.002439565 101 0.03658528535841584 4.087288 5 5 0.001088376 GO Molecular Function ATP-dependent DNA helicase activity 145 0.0009874771 0.028752609077241382 2.059914 24 0.005322688 91 0.024127129351648346 2.102034 18 35 0.003918154 GO Molecular Function LRR domain binding 166 0.001477924 0.03758912727710843 2.11052 21 0.004657352 88 0.024400674777272726 2.644716 11 17 0.002394428 Human Phenotype Supernumerary ribs 170 0.001046259 0.04106874298235294 2.087744 23 0.005100909 102 0.015084309957843137 2.81001 11 16 0.002394428 Human Phenotype Supernumerary bones of the axial skeleton 174 0.001134722 0.04351724083908046 2.074492 23 0.005100909 139 0.02441589250791367 2.644716 11 17 0.002394428 Mouse Phenotype Single KO abnormal carotid artery morphology 42 4.558849e-7 0.00009939376260238096 2.247457 48 0.01064538 274 0.004132637649270073 2.145826 21 40 0.00457118 Mouse Phenotype Single KO abnormal facial nerve morphology 50 0.000001684316 0.00030846563224 2.302191 41 0.009092925 308 0.006521677834090909 2.335593 16 28 0.003482804 Mouse Phenotype Single KO increased cochlear inner hair cell number 74 0.000006402878 0.0007923128898108107 2.539115 30 0.00665336 388 0.019611891467525774 2.829661 9 13 0.001959077 Mouse Phenotype Single KO abnormal common carotid artery morphology 85 0.00001354514 0.0014592099644705882 2.919539 22 0.004879131 261 0.0036699782459770117 3.344145 9 11 0.001959077 Mouse Phenotype Single KO increased hemangiosarcoma incidence 86 0.00001561981 0.0016631465136046511 2.740286 24 0.005322688 465 0.03314942308602151 2.213948 13 24 0.002829778 Mouse Phenotype Single KO thin interventricular septum 93 0.0000188992 0.0018608599397849463 2.854875 22 0.004879131 346 0.010265190196820808 2.581445 12 19 0.002612103 Mouse Phenotype Single KO increased squamous cell carcinoma incidence 145 0.0000823557 0.005200904447586207 2.577901 22 0.004879131 436 0.025417437738532108 2.200847 14 26 0.003047453 Mouse Phenotype Single KO increased cochlear outer hair cell number 155 0.0001133102 0.006694074202580645 2.131412 31 0.006875139 445 0.028158618678651683 2.554555 10 16 0.002176752 Mouse Phenotype Single KO cervical vertebral transformation 181 0.0002301626 0.011644192973480662 2.168879 27 0.005988024 368 0.01440272181902174 2.043644 19 38 0.004135829 Mouse Phenotype Single KO abnormal distal convoluted tubule morphology 220 0.0004141813 0.017239355291363636 2.196902 24 0.005322688 374 0.01609239427700535 2.724859 10 15 0.002176752 Mouse Phenotype Single KO decreased molar number 251 0.0006206841 0.022643841847410355 2.614008 16 0.003548459 334 0.009017065138622753 3.576377 7 8 0.001523727 Mouse Phenotype Single KO increased histiocytic sarcoma incidence 292 0.000985841 0.030915568619863016 2.232812 20 0.004435573 447 0.02804149953691275 2.335593 12 21 0.002612103 Mouse Phenotype abnormal carotid artery morphology 33 2.356035e-9 6.826075950000001e-7 2.198939 71 0.01574629 265 0.0002491390948301887 2.207135 27 50 0.005877231 Mouse Phenotype decreased DN3 thymocyte number 39 5.365108e-9 0.0000013152768612307692 5.192259 20 0.004435573 607 0.018348708840197694 3.179002 7 9 0.001523727 Mouse Phenotype abnormal lung adenoma incidence 67 1.795386e-7 0.000025620426188059702 2.373537 46 0.01020182 733 0.033000698034106414 1.720963 24 57 0.005224205 Mouse Phenotype enlarged liver sinusoidal spaces 95 0.000001528593 0.00015384081761052632 2.284812 42 0.009314704 688 0.0256814435625 1.894109 19 41 0.004135829 Mouse Phenotype abnormal sternum manubrium morphology 168 0.00006337419 0.0036066704201785714 3.220386 16 0.003548459 817 0.04387198844430844 3.065466 6 8 0.001306051 Mouse Phenotype abnormal common carotid artery morphology 176 0.00008183083 0.004445366850170455 2.276276 28 0.006209803 322 0.0008879864858385094 3.065466 12 16 0.002612103 Mouse Phenotype abnormal neutrophil differentiation 177 0.00008334641 0.004502118791016949 2.404982 25 0.005544467 795 0.04290219135849057 2.452373 9 15 0.001959077 Mouse Phenotype increased platelet aggregation 202 0.0001494373 0.007073118937128713 2.68062 19 0.004213795 723 0.03159769002489626 2.724859 8 12 0.001741402 Mouse Phenotype decreased B cell apoptosis 280 0.0005201552 0.01776144238285714 2.202726 23 0.005100909 633 0.020675458592417064 2.335593 12 21 0.002612103 Mouse Phenotype absent brain ventricles 284 0.0005576486 0.018773515016197184 5.092663 7 0.001552451 798 0.04288753088721804 4.087288 4 4 0.0008707009 Mouse Phenotype decreased fetal cardiomyocyte proliferation 324 0.0008489831 0.025052862404629634 2.163957 22 0.004879131 380 0.001985797558736842 2.885144 12 17 0.002612103 Mouse Phenotype increased plasmacytoid dendritic cell number 351 0.001105375 0.030109659188034186 2.930866 12 0.002661344 683 0.025495393396778917 2.627542 9 14 0.001959077 Mouse Phenotype decreased mitotic index 361 0.001264876 0.03349994303601108 2.23802 19 0.004213795 683 0.025495393396778917 2.627542 9 14 0.001959077 Mouse Phenotype failure of myelopoiesis 382 0.001663898 0.04164536329319372 4.20495 7 0.001552451 798 0.04288753088721804 4.087288 4 4 0.0008707009 Mouse Phenotype decreased molar number 399 0.001901341 0.045560705015037596 2.339784 16 0.003548459 607 0.018348708840197694 3.179002 7 9 0.001523727 Mouse Phenotype delayed chorioallantoic fusion 425 0.002163834 0.04867862793882352 5.658606 5 0.001108893 837 0.047764631333333335 3.406073 5 6 0.001088376