# 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 catenin import into nucleus 21 9.681255e-96 6.066458787857143e-93 6.350111 212 0.02755752 415 0.012818029699518072 2.122414 16 24 0.002712784 GO Biological Process negative regulation of protein kinase activity 45 5.418674e-74 1.5845406925777777e-71 2.462026 517 0.06720395 245 0.0008741690201632654 1.404918 109 247 0.01848084 GO Biological Process extracellular matrix organization 49 6.389744e-72 1.715972271346939e-69 2.319661 563 0.07318341 313 0.0034576849057507985 1.327373 128 307 0.02170227 GO Biological Process extracellular structure organization 50 6.528323e-72 1.71812404714e-69 2.319511 563 0.07318341 325 0.003952691917261539 1.323064 128 308 0.02170227 GO Biological Process negative regulation of protein phosphorylation 55 4.189603e-70 1.0023815614000001e-67 2.005717 752 0.0977512 192 0.00014871074997395832 1.343333 173 410 0.02933198 GO Biological Process negative regulation of kinase activity 57 1.337394e-68 3.0875030957894734e-66 2.345049 526 0.06837385 251 0.0010348043622709165 1.386805 115 264 0.01949813 GO Biological Process nephron development 64 6.975844e-67 1.4342989249375e-64 2.540047 442 0.05745483 268 0.0015042951443656717 1.565716 60 122 0.01017294 GO Biological Process negative regulation of cellular response to growth factor stimulus 66 6.009938e-66 1.1982541536666669e-63 2.693055 394 0.05121539 545 0.03629206324587156 1.406717 57 129 0.009664293 GO Biological Process positive regulation of cell morphogenesis involved in differentiation 70 1.313464e-65 2.4691246822857144e-63 2.618827 411 0.05342519 294 0.002701866751564626 1.510477 65 137 0.01102068 GO Biological Process negative regulation of transferase activity 84 6.128126e-60 9.60000119452381e-58 2.121776 567 0.07370337 596 0.04526084415604027 1.229232 139 360 0.02356731 GO Biological Process regulation of cellular component size 100 1.038871e-54 1.3670503489e-52 2.060218 554 0.07201352 369 0.006617429301897019 1.301047 132 323 0.02238047 GO Biological Process supramolecular fiber organization 103 7.405528e-54 9.461101257475728e-52 2.070776 539 0.07006369 528 0.03380469840719697 1.235691 144 371 0.02441506 GO Biological Process regulation of Rho protein signal transduction 105 1.021682e-53 1.2804108036190476e-51 2.752251 309 0.04016639 276 0.0016669678167391304 1.542832 63 130 0.01068159 GO Biological Process in utero embryonic development 117 2.014254e-52 2.265433195384615e-50 2.017567 558 0.07253347 127 0.000007133176840629921 1.454498 143 313 0.02424551 GO Biological Process regulation of dendrite development 119 2.191585e-52 2.4234510096638655e-50 2.362725 396 0.05147537 217 0.0003799253139078341 1.591811 66 132 0.01119023 GO Biological Process chondrocyte differentiation 158 1.149686e-46 9.575138021518987e-45 2.73199 271 0.03522683 462 0.020735869600216447 1.64316 32 62 0.005425568 GO Biological Process connective tissue development 185 2.226051e-44 1.583384059945946e-42 2.036564 462 0.0600546 175 0.00006534630065828571 1.526839 94 196 0.01593761 GO Biological Process positive regulation of Wnt signaling pathway 189 7.797679e-44 5.4290824317989414e-42 2.353901 333 0.0432861 549 0.03658645427140255 1.367325 67 156 0.01135978 GO Biological Process cartilage development 194 3.120928e-43 2.1169222449484534e-41 2.177699 386 0.05017548 296 0.0027723305624662163 1.48569 70 150 0.01186843 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 234 5.989879e-40 3.368411015427351e-38 5.380556 100 0.01299883 373 0.006712321230831098 2.214693 16 23 0.002712784 GO Cellular Component cytoplasmic side of membrane 29 6.442805e-46 3.8390231172413793e-44 2.483946 315 0.04094631 27 0.000027070784000000005 1.55014 93 191 0.01576806 GO Cellular Component growth cone 45 2.28543e-34 8.776051200000002e-33 2.023267 362 0.04705576 67 0.011014751713432837 1.422018 67 150 0.01135978 GO Cellular Component cytoplasmic side of plasma membrane 55 3.497319e-23 1.0987940421818182e-21 2.030029 238 0.03093722 36 0.00013051934399999998 1.536283 83 172 0.01407257 GO Cellular Component extrinsic component of cytoplasmic side of plasma membrane 61 8.558195e-21 2.424354255737705e-19 2.233622 170 0.02209801 30 0.00004032789696 1.723245 59 109 0.01000339 GO Cellular Component heterotrimeric G-protein complex 107 1.76627e-12 2.8524435140186912e-11 2.67752 68 0.008839204 80 0.0265969008 1.80692 21 37 0.003560529 GO Cellular Component cytoplasmic stress granule 116 2.161692e-11 3.2201756689655175e-10 2.610389 64 0.008319251 92 0.04037746226086956 1.702867 23 43 0.003899627 GO Cellular Component nuclear inner membrane 140 5.667677e-9 6.995532754285714e-8 2.210756 67 0.008709216 98 0.049642565877551025 1.591811 28 56 0.004747372 GO Cellular Component cleavage furrow 141 6.139092e-9 7.523653174468085e-8 2.163239 70 0.009099181 71 0.01563046093521127 1.714258 28 52 0.004747372 GO Molecular Function Rho guanyl-nucleotide exchange factor activity 8 2.192897e-79 1.15730139175e-76 4.036328 272 0.03535682 79 0.015155456873417721 1.61196 40 79 0.00678196 GO Molecular Function repressing transcription factor binding 96 5.377479e-13 2.364970451875e-11 2.071783 120 0.0155986 85 0.016920027595294117 1.697932 32 60 0.005425568 GO Molecular Function 14-3-3 protein binding 175 5.291085e-8 0.000001276512049714286 2.251561 56 0.007279345 75 0.010355113632 2.164863 17 25 0.002882333 Human Phenotype Anonychia 24 3.124947e-27 8.68865472125e-25 4.335735 83 0.01078903 21 0.022017093212380955 2.47615 14 18 0.002373686 Human Phenotype Aplasia/Hypoplasia of the skin 48 5.798908e-19 8.061690225833333e-17 2.289382 146 0.01897829 32 0.024820327765625 1.652259 41 79 0.006951509 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 70 5.61791e-50 7.349028838571428e-48 5.482176 124 0.01611855 428 0.04748895082009346 1.866261 17 29 0.002882333 Mouse Phenotype Single KO increased body temperature 87 2.733992e-45 2.877605142988506e-43 5.377176 114 0.01481867 385 0.0394567518987013 1.832994 19 33 0.003221431 Mouse Phenotype Single KO abnormal lung development 95 8.168891e-43 7.873951040736841e-41 2.369079 321 0.04172624 436 0.04914505193807339 1.397688 54 123 0.009155646 Mouse Phenotype Single KO vertebral fusion 96 1.369048e-42 1.3058721391666668e-40 2.473425 294 0.03821656 402 0.042555039089552237 1.395896 57 130 0.009664293 Mouse Phenotype Single KO abnormal keratinocyte physiology 99 4.20533e-42 3.8897178595959595e-40 3.793045 153 0.01988821 346 0.027469173893063584 1.617078 32 63 0.005425568 Mouse Phenotype Single KO fused joints 103 3.193754e-41 2.839340327961165e-39 2.380091 306 0.03977642 293 0.0177800437665529 1.430323 62 138 0.01051204 Mouse Phenotype Single KO abnormal respiratory system development 118 3.260318e-38 2.5300620276271185e-36 2.167251 344 0.04471598 345 0.027547494127536227 1.407253 61 138 0.01034249 Mouse Phenotype Single KO abnormal trophoblast layer morphology 124 4.272065e-37 3.154782193951613e-35 2.419203 266 0.03457689 444 0.04944565511711711 1.367612 61 142 0.01034249 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 125 5.168252e-37 3.7860546851199997e-35 3.204113 167 0.02170805 157 0.002428365826942675 1.862118 31 53 0.005256019 Mouse Phenotype Single KO small liver 126 5.248216e-37 3.814120151746031e-35 2.088614 362 0.04705576 331 0.025326142887613295 1.352183 79 186 0.01339437 Mouse Phenotype Single KO abnormal bone marrow cell number 160 7.367654e-33 4.216600479875e-31 2.168846 294 0.03821656 235 0.010151142368936172 1.45537 64 140 0.01085114 Mouse Phenotype Single KO decreased macrophage cell number 230 6.896081e-26 2.7455397268260868e-24 2.339945 195 0.02534772 425 0.04775509084470588 1.469364 42 91 0.007121058 Mouse Phenotype Single KO abnormal brown adipose tissue morphology 277 7.279758e-22 2.406525054368231e-20 2.151051 195 0.02534772 323 0.024265276049226004 1.454586 53 116 0.008986097 Mouse Phenotype Single KO fusion of vertebral bodies 285 2.262951e-21 7.270821862105262e-20 7.515412 39 0.005069544 320 0.024059599711874997 2.604781 9 11 0.001525941 Mouse Phenotype Single KO decreased rib number 330 2.510776e-18 6.967022979393939e-17 2.140101 163 0.02118809 100 0.00035959850338000005 1.704363 53 99 0.008986097 Mouse Phenotype Single KO dilated renal glomerular capsule 345 9.078927e-18 2.4097314359130433e-16 6.665158 35 0.004549591 445 0.049819409579775285 2.387716 9 12 0.001525941 Mouse Phenotype Single KO decreased erythroid progenitor cell number 351 1.657853e-17 4.325059806552706e-16 2.385961 123 0.01598856 206 0.006539444879126214 1.810295 29 51 0.004916921 Mouse Phenotype Single KO pale yolk sac 368 9.531965e-17 2.3718533561141302e-15 2.022557 169 0.02196802 302 0.01931388072549669 1.553911 41 84 0.006951509 Mouse Phenotype Single KO increased brown adipose tissue amount 388 1.163321e-15 2.745497525e-14 3.403126 61 0.007929286 387 0.039283459015503876 1.750992 22 40 0.003730078 Mouse Phenotype Single KO decreased fat cell size 495 9.493213e-13 1.7561485139595956e-11 2.146808 108 0.01403874 214 0.00710813836588785 1.718145 34 63 0.005764666 Mouse Phenotype kinked tail 13 7.476146e-92 5.498417838923077e-89 3.188133 424 0.05511504 244 0.002946173169467213 1.528138 60 125 0.01017294 Mouse Phenotype decreased chondrocyte number 36 1.440635e-72 3.826086454166667e-70 4.953918 200 0.02599766 395 0.010705219331392403 2.228535 14 20 0.002373686 Mouse Phenotype small liver 83 1.161279e-53 1.3377094601204818e-51 2.221058 460 0.05979462 312 0.005788385685576923 1.364409 96 224 0.0162767 Mouse Phenotype abnormal keratinocyte physiology 116 3.262945e-46 2.6893980297413797e-44 2.977513 234 0.03041726 459 0.016196779763398693 1.465029 52 113 0.008816548 Mouse Phenotype increased body temperature 117 4.195714e-46 3.4286514148717947e-44 4.977273 125 0.01624854 541 0.025276014526802216 1.819212 20 35 0.00339098 Mouse Phenotype decreased tumor incidence 139 1.504264e-43 1.0346955470503597e-41 2.200977 380 0.04939555 658 0.0443904588556231 1.285132 88 218 0.01492031 Mouse Phenotype shiny skin 143 1.796121e-42 1.2008890126573426e-40 6.125547 95 0.01234889 333 0.007260396577477477 1.966354 21 34 0.003560529 Mouse Phenotype abnormal keratinocyte proliferation 145 9.32396e-42 6.148026314482758e-40 3.406063 174 0.02261796 692 0.04902934684248555 1.503377 34 72 0.005764666 Mouse Phenotype decreased tumor growth/size 167 1.197306e-38 6.8547560874251505e-37 2.643948 236 0.03067724 624 0.038752372466346156 1.402952 52 118 0.008816548 Mouse Phenotype abnormal trophoblast layer morphology 189 2.477366e-35 1.2532326098412698e-33 2.275037 286 0.03717665 488 0.0184037984477459 1.381572 69 159 0.01169888 Mouse Phenotype abnormal basisphenoid bone morphology 192 4.495316e-35 2.238526889375e-33 2.477068 240 0.03119719 219 0.001947579629178082 1.804052 34 60 0.005764666 Mouse Phenotype abnormal embryonic hematopoiesis 205 1.407824e-33 6.565953787317073e-32 2.911347 174 0.02261796 313 0.005929958242811503 1.722287 33 61 0.005595117 Mouse Phenotype abnormal basicranium morphology 216 1.769116e-32 7.830795405555556e-31 2.216446 277 0.03600676 281 0.004376753600711743 1.591811 47 94 0.007968803 Mouse Phenotype abnormal autonomic nervous system morphology 227 8.290962e-32 3.492065536651982e-30 2.054721 322 0.04185623 613 0.03667495099673736 1.411867 51 115 0.008646999 Mouse Phenotype abnormal chondrocyte morphology 245 8.769058e-31 3.422080144408163e-29 2.081005 302 0.03925647 481 0.017180465023284824 1.483629 48 103 0.008138352 Mouse Phenotype vertebral fusion 253 4.098728e-30 1.5489303718577076e-28 2.005012 323 0.04198622 629 0.039202942459459454 1.346917 66 156 0.01119023 Mouse Phenotype decreased circulating serum albumin level 269 2.005972e-28 7.129776316728623e-27 2.546874 183 0.02378786 590 0.0325479451220339 1.431169 49 109 0.008307901 Mouse Phenotype abnormal dermal layer morphology 273 2.588137e-28 9.064167713186812e-27 2.195693 245 0.03184713 231 0.0025828590353246753 1.519456 63 132 0.01068159 Mouse Phenotype abnormal caudal vertebrae morphology 278 8.289347e-28 2.8508793765107915e-26 2.045611 283 0.03678669 334 0.007457382482335329 1.45537 64 140 0.01085114 Mouse Phenotype cortical renal glomerulopathies 294 1.583046e-26 5.148130206122449e-25 2.034329 273 0.03548681 652 0.04428294462883436 1.30696 78 190 0.01322482