# 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 leukocyte mediated immunity 48 5.40643e-42 1.482150257708333e-39 2.062909 416 0.08316673 368 0.011892667950543478 1.236173 197 618 0.04068567 GO Biological Process coronary artery morphogenesis 94 4.277683e-32 5.988301127340426e-30 7.534622 60 0.0119952 528 0.04074021415530303 3.016178 7 9 0.001445684 GO Biological Process regulation of gene expression, epigenetic 97 3.197028e-31 4.3370815929896905e-29 2.571337 197 0.03938425 156 0.00011075677242307691 1.532413 98 248 0.02023957 GO Biological Process positive regulation of skeletal muscle cell differentiation 107 1.967964e-29 2.4202278762616824e-27 7.876392 53 0.01059576 464 0.032287308094827584 3.877943 5 5 0.001032631 GO Biological Process synaptic vesicle exocytosis 113 4.651952e-28 5.417259855575221e-26 3.368603 116 0.02319072 422 0.0229526200507109 1.751329 28 62 0.005782734 GO Biological Process apoptotic signaling pathway 119 2.299105e-27 2.5423464449579832e-25 2.057914 271 0.05417833 401 0.017059527774314215 1.336318 102 296 0.02106568 GO Biological Process gene silencing 130 6.29995e-26 6.377003234615385e-24 2.803273 140 0.0279888 182 0.0003437391810934066 1.594265 74 180 0.01528294 GO Biological Process positive regulation of glucose transport 136 2.432227e-25 2.3533584627205886e-23 3.844242 88 0.01759296 509 0.03854935513163065 1.815207 22 47 0.004543577 GO Biological Process calcium ion regulated exocytosis 140 4.874697e-25 4.581866987357142e-23 2.988918 122 0.02439024 457 0.030464582304157547 1.66967 31 72 0.006402313 GO Biological Process negative regulation of gene expression, epigenetic 168 2.878546e-22 2.2546896913095237e-20 3.359621 91 0.01819272 542 0.042640331341328414 1.49675 44 114 0.009087154 GO Biological Process regulation of glucose transport 169 3.553853e-22 2.767168735325444e-20 3.029432 105 0.0209916 544 0.04376173004963235 1.624544 31 74 0.006402313 GO Biological Process regulation of skeletal muscle cell differentiation 175 2.237834e-21 1.6827232917714288e-19 4.527468 61 0.01219512 526 0.04081276358555133 2.369854 11 18 0.002271789 GO Biological Process synaptic vesicle transport 203 7.625153e-19 4.942827011182266e-17 2.338693 138 0.02758896 310 0.005708713787096775 1.636563 46 109 0.009500207 GO Biological Process vesicle-mediated transport in synapse 205 1.025914e-18 6.585366988292682e-17 2.330094 138 0.02758896 326 0.007021779641104294 1.621685 46 110 0.009500207 GO Biological Process synaptic vesicle localization 212 7.328267e-18 4.548710634575472e-16 2.273328 138 0.02758896 337 0.008730719262908011 1.607075 46 111 0.009500207 GO Biological Process primary miRNA processing 213 8.597534e-18 5.311499995586854e-16 7.489307 32 0.006397441 528 0.04074021415530303 3.016178 7 9 0.001445684 GO Biological Process thymus development 222 2.585235e-17 1.5323922236486486e-15 2.643933 100 0.019992 555 0.047107394336936934 1.809707 21 45 0.004337051 GO Biological Process synaptic vesicle cycle 229 5.046193e-17 2.899687933930131e-15 2.289688 129 0.02578968 413 0.01995843372711864 1.599152 40 97 0.008261049 GO Biological Process intrinsic apoptotic signaling pathway 230 5.564981e-17 3.1838949990869563e-15 2.115364 153 0.03058776 442 0.02678477533348416 1.451101 58 155 0.01197852 GO Biological Process cellular response to dsRNA 276 1.90294e-14 9.072749079710144e-13 3.386542 56 0.01119552 292 0.004560688581164383 1.976991 26 51 0.005369682 GO Cellular Component vacuolar lumen 56 4.859358e-22 1.49945904e-20 2.434234 151 0.03018792 55 0.007193852509090908 1.482743 65 170 0.0134242 GO Cellular Component nucleosome 69 3.112114e-17 7.793815930434783e-16 3.594522 63 0.01259496 61 0.013515186570491803 1.58811 43 105 0.008880628 GO Cellular Component DNA packaging complex 78 1.066579e-14 2.362882707692308e-13 3.057398 66 0.01319472 65 0.015562881083076926 1.558102 45 112 0.00929368 GO Cellular Component sex chromosome 151 0.000001908068 0.000021835374198675498 3.033527 25 0.004998001 86 0.04207296223255814 2.088123 14 26 0.002891367 GO Molecular Function primary miRNA binding 26 7.555883e-24 1.226959154846154e-21 8.539738 40 0.007996801 79 0.02502960325822785 3.3932 7 8 0.001445684 GO Molecular Function proteoglycan binding 39 1.875187e-17 2.0300101317948716e-15 2.956842 84 0.01679328 62 0.0018457051822580645 2.245125 22 38 0.004543577 GO Molecular Function glycoprotein binding 47 9.977549e-15 8.96281103787234e-13 2.506776 92 0.01839264 45 0.00021765535866666668 2.276184 27 46 0.005576208 GO Molecular Function R-SMAD binding 159 0.0002077147 0.005515543794968553 2.00584 33 0.006597361 59 0.0009528295471186441 2.697699 16 23 0.00330442 Human Phenotype Abnormality of the nasal tip 64 1.527791e-29 1.59296083484375e-27 2.464093 201 0.04018393 47 0.023815851812765958 1.582201 51 125 0.01053284 Human Phenotype Ventricular septal defect 77 1.634175e-25 1.4162142564935064e-23 2.140876 230 0.04598161 11 0.012243577935454546 1.560092 70 174 0.01445684 Human Phenotype Abnormal ventricular septum morphology 80 4.228837e-25 3.527378662625e-23 2.116678 232 0.04638145 9 0.009209955968888888 1.568606 72 178 0.01486989 Human Phenotype Open bite 322 0.00009353989 0.001938483496801242 3.257504 15 0.0029988 74 0.0422330292445946 3.3932 7 8 0.001445684 Mouse Phenotype Single KO abnormal immunoglobulin light chain V-J recombination 1 1.041396e-184 9.536063172e-181 62.24579 133 0.02658936 367 0.02840626154768392 3.877943 5 5 0.001032631 Mouse Phenotype Single KO abnormal pre-B cell morphology 21 1.559622e-71 6.800694597142858e-69 4.55933 213 0.04258297 432 0.03746978690046296 1.588555 34 83 0.007021892 Mouse Phenotype Single KO abnormal central nervous system regeneration 33 1.407943e-63 3.9068285003030306e-61 19.43345 70 0.0139944 414 0.03615656932850241 3.016178 7 9 0.001445684 Mouse Phenotype Single KO small spleen 52 5.162344e-50 9.090689232307693e-48 2.456121 346 0.06917233 195 0.002857293929230769 1.432814 92 249 0.01900041 Mouse Phenotype Single KO abnormal pro-B cell morphology 55 3.193952e-48 5.317639720727273e-46 3.58013 188 0.03758497 182 0.0018725164393956044 1.859288 35 73 0.007228418 Mouse Phenotype Single KO abnormal hindlimb zeugopod morphology 70 1.740393e-44 2.2766826715714284e-42 2.351784 334 0.06677329 449 0.040966827251670376 1.34577 76 219 0.01569599 Mouse Phenotype Single KO abnormal tibia morphology 78 1.124607e-43 1.320259781923077e-41 2.38161 320 0.06397441 491 0.0495485083503055 1.341658 73 211 0.01507641 Mouse Phenotype Single KO abnormal B cell differentiation 95 1.754016e-37 1.6906867907368423e-35 2.222599 315 0.06297481 92 0.000042280606146739133 1.557407 100 249 0.02065262 Mouse Phenotype Single KO abnormal spleen red pulp morphology 96 2.065009e-37 1.9697174388541667e-35 3.258445 164 0.03278689 307 0.018288930102605863 1.581297 42 103 0.008674102 Mouse Phenotype Single KO abnormal nervous system regeneration 102 1.144193e-34 1.0271936569607844e-32 5.521784 84 0.01679328 377 0.030404737633952256 2.326766 12 20 0.002478315 Mouse Phenotype Single KO abnormal circulating amino acid level 113 7.996981e-33 6.480385399734513e-31 2.357512 244 0.04878049 362 0.027310398361878454 1.369732 77 218 0.01590252 Mouse Phenotype Single KO abnormal amino acid level 133 2.228679e-30 1.534437113007519e-28 2.164657 269 0.05377849 268 0.010092496887313432 1.368686 96 272 0.01982652 Mouse Phenotype Single KO abnormal macrophage cell number 162 6.294303e-26 3.5578353438888884e-24 2.140496 234 0.04678129 439 0.03794350004328018 1.362009 72 205 0.01486989 Mouse Phenotype Single KO abnormal osteoclast morphology 164 9.712755e-26 5.423152288719512e-24 2.207505 217 0.04338265 464 0.04399555642672413 1.407916 57 157 0.011772 Mouse Phenotype Single KO decreased circulating phosphate level 176 3.020242e-23 1.5713838632954545e-21 4.025711 76 0.01519392 381 0.030871996322834647 1.89168 20 41 0.004130525 Mouse Phenotype Single KO abnormal vocalization 185 6.853515e-23 3.392304694864865e-21 2.797983 123 0.02459016 231 0.005583649222943723 1.874339 29 60 0.005989261 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 186 8.31668e-23 4.0943999333333335e-21 4.307556 69 0.01379448 454 0.04261968327092511 2.423714 10 16 0.002065262 Mouse Phenotype Single KO aberrant origin of the right subclavian artery 193 5.821196e-22 2.7619011280829017e-20 3.781726 77 0.01539384 408 0.03505604833333333 2.077469 15 28 0.003097893 Mouse Phenotype Single KO abnormal platelet cell number 196 8.764279e-22 4.09461748994898e-20 2.08029 208 0.04158337 301 0.017798628220598006 1.395335 77 214 0.01590252 Mouse Phenotype Single KO decreased vocalization 226 9.195991e-19 3.726003964026549e-17 3.560711 70 0.0139944 465 0.04407872597419355 2.215967 12 21 0.002478315 Mouse Phenotype decreased pre-B cell number 23 3.674349e-72 1.5274109038695653e-69 4.023444 246 0.04918033 135 0.00002034017055111111 1.901684 51 104 0.01053284 Mouse Phenotype abnormal pre-B cell morphology 27 1.307474e-66 4.629910708888889e-64 3.535723 265 0.05297881 128 0.000012398458305468751 1.807763 62 133 0.01280463 Mouse Phenotype abnormal central nervous system regeneration 38 2.861284e-61 7.199141137894737e-59 17.42071 71 0.01419432 603 0.023426320975124378 2.820322 8 11 0.00165221 Mouse Phenotype decreased immature B cell number 39 9.653029e-61 2.3664771863846152e-58 3.507181 244 0.04878049 482 0.009925918773236514 1.516188 52 133 0.01073936 Mouse Phenotype abnormal pro-B cell morphology 41 2.66352e-60 6.211198712195123e-58 3.391465 253 0.05057977 112 0.0000027637735138392856 1.938971 56 112 0.01156547 Mouse Phenotype abnormal immature B cell morphology 44 4.212481e-56 9.15352973659091e-54 3.016279 277 0.05537785 310 0.0014894033274193547 1.525034 70 178 0.01445684 Mouse Phenotype abnormal immature B cell number 46 1.4173e-55 2.945827239130435e-53 3.019119 274 0.05477809 250 0.00062341467912 1.573989 69 170 0.01425031 Mouse Phenotype short tibia 68 1.333215e-45 1.874539502205882e-43 2.510734 303 0.06057577 491 0.011262565912423625 1.440379 65 175 0.0134242 Mouse Phenotype small spleen 75 5.487643e-44 6.995647296399999e-42 2.194638 380 0.07596961 346 0.0023218485058959537 1.375245 111 313 0.02292441 Mouse Phenotype abnormal B cell differentiation 80 1.541163e-42 1.841882430375e-40 2.135082 390 0.07796881 67 4.377957640746268e-8 1.591526 142 346 0.02932672 Mouse Phenotype abnormal spleen white pulp morphology 87 2.303162e-40 2.53109561862069e-38 2.20559 345 0.06897241 680 0.03228893115 1.260599 118 363 0.0243701 Mouse Phenotype abnormal tibia morphology 95 2.756261e-38 2.7739590969473687e-36 2.132201 352 0.07037185 385 0.003932121427792208 1.408722 89 245 0.01838083 Mouse Phenotype abnormal blood coagulation 100 1.170323e-37 1.1189458203e-35 2.237844 312 0.06237505 670 0.030850949614925377 1.297152 96 287 0.01982652 Mouse Phenotype abnormal hemostasis 103 1.953072e-37 1.8129438244660193e-35 2.231419 312 0.06237505 709 0.03689765207475317 1.288175 96 289 0.01982652 Mouse Phenotype abnormal hindlimb zeugopod morphology 108 1.235114e-35 1.093418977222222e-33 2.022064 370 0.07397041 422 0.005428450329383886 1.380783 94 264 0.01941347 Mouse Phenotype abnormal nervous system regeneration 118 4.790335e-34 3.8813892317796613e-32 5.209014 87 0.01739304 440 0.006681302853409091 2.326766 15 25 0.003097893 Mouse Phenotype decreased mature B cell number 119 8.804053e-34 7.073575691848739e-32 2.114387 316 0.06317473 447 0.007730513396644295 1.350594 101 290 0.02085915 Mouse Phenotype induced hyperactivity 120 9.05555e-34 7.2150094625e-32 3.672348 126 0.02518992 693 0.03437678934632035 1.842023 19 40 0.003923998 Mouse Phenotype abnormal spleen red pulp morphology 133 1.57295e-30 1.1307499962406015e-28 2.59786 189 0.03778489 787 0.047900780081321474 1.38498 55 154 0.01135894 Mouse Phenotype abnormal circulating amino acid level 151 9.533911e-29 6.03667040205298e-27 2.165035 254 0.05077969 702 0.03628161155982906 1.313497 84 248 0.0173482