# 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 response to estrogen 90 1.738467e-43 2.541831917e-41 2.647289 268 0.02044397 819 0.03849523255677655 1.449754 40 74 0.00571347 GO Biological Process positive regulation of myeloid leukocyte differentiation 166 4.984765e-33 3.9514772671686745e-31 2.550724 215 0.01640095 466 0.003186999671030043 1.716509 32 50 0.004570776 GO Biological Process negative regulation of morphogenesis of an epithelium 214 5.000868e-28 3.0750664491588784e-26 2.904378 145 0.0110611 851 0.04305830457696827 1.937033 13 18 0.001856878 GO Biological Process regulation of epidermal cell differentiation 217 2.490917e-27 1.5105058434562212e-25 2.262126 223 0.01701121 861 0.043910620146341464 1.50571 32 57 0.004570776 GO Biological Process positive regulation of myeloid cell differentiation 218 2.662593e-27 1.6072046461926605e-25 2.100374 263 0.02006255 464 0.003147854007327586 1.551062 48 83 0.006856163 GO Biological Process membrane raft organization 305 4.287378e-21 1.8497576099016395e-19 3.555877 80 0.006102678 644 0.016058767505745343 1.950578 16 22 0.002285388 GO Biological Process labyrinthine layer morphogenesis 320 2.324813e-20 9.560066958437499e-19 2.622406 122 0.009306583 735 0.027877833843537415 1.915747 15 21 0.002142551 GO Biological Process branching involved in salivary gland morphogenesis 325 5.864008e-20 2.374291731446154e-18 2.492408 131 0.009993134 702 0.022028259725071223 2.050976 13 17 0.001856878 GO Biological Process T cell differentiation in thymus 357 1.40377e-18 5.174288355742297e-17 2.084358 177 0.01350217 551 0.008199356182577134 1.690855 29 46 0.004142265 GO Biological Process labyrinthine layer development 360 1.85185e-18 6.769026152777778e-17 2.124507 168 0.01281562 821 0.03881404925943971 1.564526 28 48 0.003999429 GO Biological Process thymic T cell selection 404 6.000658e-17 1.954521253019802e-15 2.823002 88 0.006712945 722 0.025265844998614957 1.976244 14 19 0.001999714 GO Biological Process positive regulation of osteoclast differentiation 429 2.68619e-16 8.239527787878787e-15 2.614861 96 0.007323213 650 0.017699954282615386 1.899782 17 24 0.002428225 GO Biological Process regulation of astrocyte differentiation 505 1.147963e-14 2.991296062772278e-13 2.125616 130 0.009916851 386 0.0011730938274870466 2.123286 19 24 0.002713898 GO Biological Process regulation of water loss via skin 513 1.344488e-14 3.448755865886939e-13 3.049927 66 0.005034709 875 0.048270535587428574 1.828667 15 22 0.002142551 GO Biological Process cell differentiation involved in embryonic placenta development 519 2.08557e-14 5.287864283236994e-13 2.280579 109 0.008314898 589 0.011005863651782685 1.887365 19 27 0.002713898 GO Biological Process aorta morphogenesis 542 5.54432e-14 1.3460831527675277e-12 2.027955 138 0.01052712 670 0.019590852091940298 1.819959 19 28 0.002713898 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 566 1.445885e-13 3.36155489664311e-12 2.787773 70 0.005339843 824 0.039058227600728156 2.011534 12 16 0.001714041 GO Biological Process preganglionic parasympathetic fiber development 569 1.842888e-13 4.2619618966608084e-12 2.440664 88 0.006712945 824 0.039058227600728156 2.011534 12 16 0.001714041 GO Biological Process negative regulation of fibroblast growth factor receptor signaling pathway 612 1.123811e-12 2.4163772792483662e-11 2.087372 115 0.008772599 492 0.0040715951945121944 2.458542 11 12 0.001571204 GO Biological Process parasympathetic nervous system development 728 5.662151e-11 1.0234649039697802e-9 2.158433 90 0.006865512 851 0.04305830457696827 1.937033 13 18 0.001856878 GO Cellular Component lamellipodium membrane 106 1.560581e-9 2.544041479245283e-8 2.555838 54 0.004119307 123 0.045092665756097564 1.828667 15 22 0.002142551 GO Cellular Component autophagosome membrane 122 5.780585e-8 8.187582688524591e-7 2.052044 69 0.005263559 102 0.01753135623529412 1.78803 20 30 0.002856735 GO Cellular Component desmosome 143 8.380056e-7 0.00001012638934825175 2.017519 59 0.004500725 124 0.046233002322580645 1.78803 16 24 0.002285388 GO Molecular Function protein binding involved in cell adhesion 84 2.167956e-12 1.0896559800000002e-10 2.022883 121 0.0092303 69 0.0058658412069565215 1.835084 26 38 0.003713755 GO Molecular Function protein binding involved in cell-cell adhesion 88 6.296004e-12 3.02065101e-10 2.132072 102 0.007780914 56 0.0024234596649999997 1.989905 23 31 0.003285245 Mouse Phenotype Single KO abnormal anterior commissure morphology 23 1.105387e-40 4.4008820691304347e-38 2.624127 254 0.019376 567 0.009782350425396826 1.700809 26 41 0.003713755 Mouse Phenotype Single KO abnormal vibrissa morphology 49 4.552533e-34 8.507662179795918e-32 2.08416 338 0.02578381 600 0.012336011271333333 1.439835 51 95 0.007284674 Mouse Phenotype Single KO decreased fibroblast cell migration 73 6.784051e-30 8.509802055753426e-28 2.640034 182 0.01388359 563 0.009700966461634104 1.762487 23 35 0.003285245 Mouse Phenotype Single KO abnormal adrenal gland secretion 78 1.003307e-28 1.1778566921794872e-26 3.211366 128 0.009764284 829 0.03353378452955368 1.877432 14 20 0.001999714 Mouse Phenotype Single KO abnormal fibroblast migration 83 1.345831e-27 1.4847921044578314e-25 2.482701 187 0.01426501 567 0.009782350425396826 1.700809 26 41 0.003713755 Mouse Phenotype Single KO abnormal adrenal gland physiology 92 3.11532e-26 3.1007592652173916e-24 2.724905 150 0.01144252 524 0.007794478592938931 1.931073 18 25 0.002571061 Mouse Phenotype Single KO decreased cell migration 101 4.175384e-25 3.785543691881188e-23 2.345307 189 0.01441758 559 0.009476697243470484 1.654879 29 47 0.004142265 Mouse Phenotype Single KO rectal prolapse 116 2.38043e-23 1.8791032336206894e-21 2.834758 124 0.00945915 721 0.02347308682108183 1.78803 18 27 0.002571061 Mouse Phenotype Single KO abnormal epidermis stratum spinosum morphology 146 4.460457e-21 2.7975619691095884e-19 2.483004 140 0.01067969 795 0.031080758509433964 1.500127 33 59 0.004713612 Mouse Phenotype Single KO acanthosis 153 8.249005e-21 4.937002534967321e-19 2.983095 101 0.00770463 917 0.047834730041439476 1.581719 23 39 0.003285245 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 188 5.53985e-19 2.6983194920212763e-17 2.663122 110 0.008391182 662 0.01625509972960725 2.050976 13 17 0.001856878 Mouse Phenotype Single KO decreased erythroid progenitor cell number 203 1.740649e-18 7.851784676354681e-17 2.060455 181 0.01380731 870 0.036308378598850576 1.525085 29 51 0.004142265 Mouse Phenotype Single KO epidermis stratum spinosum hyperplasia 212 2.345526e-18 1.0131123387735849e-16 2.663439 106 0.008086048 709 0.022494913133991535 1.635394 25 41 0.003570918 Mouse Phenotype Single KO abnormal rectum morphology 222 6.671499e-18 2.7518430785135133e-16 2.115871 164 0.01251049 487 0.006339423064887063 1.764504 25 38 0.003570918 Mouse Phenotype Single KO abnormal hair shaft morphology 223 7.008248e-18 2.877781476950673e-16 2.062938 174 0.01327332 757 0.02693148697886394 1.485441 36 65 0.005142123 Mouse Phenotype Single KO increased IgG1 level 227 9.154182e-18 3.6927244305726874e-16 2.047331 176 0.01342589 783 0.030033544933588757 1.452775 39 72 0.005570633 Mouse Phenotype Single KO increased B cell proliferation 271 4.36245e-16 1.4740573671586716e-14 2.084297 151 0.0115188 521 0.007637728911708253 1.57517 37 63 0.005284959 Mouse Phenotype Single KO decreased atrioventricular cushion size 276 5.63506e-16 1.8695740731884056e-14 2.567947 97 0.007399497 575 0.010396916723304348 2.269423 11 13 0.001571204 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 283 9.055569e-16 2.9301005418021206e-14 2.082472 148 0.01128995 892 0.04208319035874439 1.438198 37 69 0.005284959 Mouse Phenotype Single KO abnormal bone resorption 297 2.637948e-15 8.133228901010102e-14 2.006037 157 0.0119765 336 0.0017229571373809523 1.670782 38 61 0.005427796 Mouse Phenotype abnormal anterior commissure morphology 88 7.627131e-31 8.286704487613637e-29 2.012067 332 0.02532611 382 0.0005355856952356022 1.702886 40 63 0.00571347 Mouse Phenotype decreased fibroblast cell migration 89 8.033033e-31 8.629643653146067e-29 2.522756 204 0.01556183 898 0.017936148531180404 1.621702 26 43 0.003713755 Mouse Phenotype abnormal fibroblast migration 114 1.146702e-27 9.617208615789475e-26 2.343081 210 0.01601953 870 0.015689820793103448 1.577674 30 51 0.004285102 Mouse Phenotype decreased chondrocyte number 119 4.684499e-27 3.7637390705042017e-25 2.5438 175 0.01334961 538 0.0021285469477695168 2.145636 16 20 0.002285388 Mouse Phenotype abnormal adrenal gland secretion 131 2.85736e-26 2.085436561832061e-24 2.995324 129 0.009840568 1246 0.04651233131460674 1.74916 15 23 0.002142551 Mouse Phenotype abnormal cell adhesion 151 5.260946e-25 3.3311195169536417e-23 2.125444 233 0.01777405 405 0.000758696747851852 1.623343 46 76 0.00657049 Mouse Phenotype abnormal adrenal gland physiology 172 4.864745e-23 2.7041759851744187e-21 2.368363 169 0.01289191 633 0.00451752265592417 1.843906 22 32 0.003142408 Mouse Phenotype decreased atrioventricular cushion size 221 1.633058e-19 7.065007935746607e-18 2.422335 135 0.01029827 674 0.005545423974925815 1.982381 17 23 0.002428225 Mouse Phenotype rectal prolapse 225 2.381995e-19 1.0121890753333334e-17 2.358856 141 0.01075597 1167 0.04113619021079691 1.59473 22 37 0.003142408 Mouse Phenotype increased luteinizing hormone level 226 2.47932e-19 1.0488840053097346e-17 2.160566 170 0.01296819 994 0.025664349908450707 1.584845 26 44 0.003713755 Mouse Phenotype increased circulating luteinizing hormone level 239 8.094906e-19 3.2383010989958155e-17 2.155227 166 0.01266306 910 0.018299501841758242 1.635394 25 41 0.003570918 Mouse Phenotype palatal shelf hypoplasia 263 5.093158e-18 1.8515469063878325e-16 2.28695 139 0.0106034 1025 0.02831804963414634 1.877432 14 20 0.001999714 Mouse Phenotype increased B cell proliferation 271 1.036365e-17 3.656341610701107e-16 2.058933 173 0.01319704 1177 0.04213773146559049 1.39069 42 81 0.005999143 Mouse Phenotype abnormal hair shaft melanin granule morphology 320 2.798466e-16 8.361291695625e-15 2.868645 82 0.006255244 1155 0.04141875695324676 1.966833 11 15 0.001571204 Mouse Phenotype abnormal transitional stage T1 B cell morphology 416 6.773246e-14 1.5567068511057692e-12 2.566861 83 0.006331528 1231 0.04628541458164095 1.688695 17 27 0.002428225 Mouse Phenotype abnormal kidney collecting duct epithelium morphology 667 1.981085e-10 2.8397531761619187e-9 2.377128 69 0.005263559 752 0.008300508019547872 2.269423 11 13 0.001571204 Mouse Phenotype abnormal physiological neovascularization 699 4.328279e-10 5.920268314592275e-9 2.02478 95 0.00724693 524 0.002036232079580153 1.9867 20 27 0.002856735 Mouse Phenotype abnormal dorsal-ventral axis patterning 769 2.042473e-9 2.5394127897269184e-8 2.011027 89 0.006789229 799 0.011301938437922402 1.856801 18 26 0.002571061 Mouse Phenotype abnormal stomach glandular epithelium morphology 800 3.127862e-9 3.73818607275e-8 2.058454 82 0.006255244 785 0.010648692244968153 1.899782 17 24 0.002428225 Mouse Phenotype abnormal cricoid cartilage morphology 811 4.483539e-9 5.2857110208384707e-8 2.061901 80 0.006102678 836 0.013439758173444977 2.050976 13 17 0.001856878