# 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 chondrocyte differentiation 37 9.219136e-211 3.2787732601081083e-208 9.745189 335 0.1256564 230 0.014788124249130433 2.610818 16 62 0.00862069 GO Biological Process nephron development 42 5.536465e-198 1.734627212738095e-195 6.715992 405 0.151913 195 0.008589385415384615 2.156065 26 122 0.01400862 GO Biological Process cartilage development 44 6.312211e-197 1.8877814670227275e-194 6.625834 407 0.1526632 240 0.017531055818333332 1.955938 29 150 0.015625 GO Biological Process connective tissue development 61 1.546153e-171 3.3353815290163935e-169 5.367897 422 0.1582896 179 0.006428457469329609 1.909826 37 196 0.01993534 GO Biological Process bone development 62 3.128123e-171 6.639188799516129e-169 5.948597 387 0.1451613 304 0.03580470401842105 1.828359 30 166 0.01616379 GO Biological Process regulation of organ morphogenesis 68 8.56247e-166 1.6569638636764708e-163 4.870883 445 0.1669167 119 0.0005189397615378151 1.950249 48 249 0.02586207 GO Biological Process chordate embryonic development 71 1.067633e-160 1.9787299502816898e-158 3.389371 626 0.2348087 29 4.0785113502068966e-7 1.841097 101 555 0.0544181 GO Biological Process embryo development ending in birth or egg hatching 72 1.525893e-159 2.788781387083333e-157 3.370407 626 0.2348087 32 6.1052167425e-7 1.824658 101 560 0.0544181 GO Biological Process regulation of cellular component size 74 6.064142e-159 1.0783519537567567e-156 4.721628 440 0.1650413 271 0.02560194160405904 1.597408 51 323 0.02747845 GO Biological Process regulation of canonical Wnt signaling pathway 92 6.536049e-139 9.348681390326086e-137 4.886895 375 0.1406602 346 0.04998004981213872 1.643999 39 240 0.02101293 GO Biological Process kidney development 93 6.294706e-137 8.906670564946236e-135 3.994809 451 0.1691673 101 0.0001845952337227723 1.999391 50 253 0.02693966 GO Biological Process positive regulation of cell death 94 9.67732e-136 1.3547218497872338e-133 3.240461 567 0.2126782 327 0.04095720641284404 1.384586 88 643 0.04741379 GO Biological Process renal system development 97 5.173709e-131 7.018642961958764e-129 3.774014 460 0.1725431 90 0.00011177710778666666 1.993296 53 269 0.02855603 GO Biological Process regulation of anatomical structure size 107 2.34454e-122 2.883345968224299e-120 3.500505 470 0.1762941 344 0.04934678554069767 1.465209 63 435 0.03394397 GO Biological Process urogenital system development 109 1.934515e-121 2.3354387967889906e-119 3.485985 469 0.175919 76 0.000043289370073684206 1.976484 59 302 0.03178879 GO Biological Process single organism cell adhesion 114 7.512453e-120 8.671611318157894e-118 3.704404 432 0.1620405 217 0.012544923440092165 1.58239 61 390 0.03286638 GO Biological Process embryo development 121 2.539399e-114 2.7616488794214877e-112 2.397842 740 0.2775694 14 3.4214584310000003e-9 1.732732 155 905 0.08351293 GO Biological Process regulation of Wnt signaling pathway 122 4.393404e-114 4.738754363606558e-112 3.78105 403 0.1511628 185 0.006843968870702703 1.691472 53 317 0.02855603 GO Biological Process skeletal system development 125 3.892369e-113 4.09757469368e-111 3.074819 513 0.1924231 147 0.0019809773440816326 1.616959 74 463 0.03987069 GO Biological Process positive regulation of cell differentiation 129 1.16197e-111 1.1852994751937987e-109 2.340454 754 0.2828207 34 6.904860145294118e-7 1.639638 141 870 0.07596983 GO Molecular Function transcription factor binding 16 1.937199e-60 5.11178386125e-58 2.472716 396 0.1485371 20 0.006171075745 1.562311 82 531 0.04418103 GO Molecular Function transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding 22 1.293988e-33 2.4832806072727273e-31 2.037291 330 0.1237809 1 2.0926017906e-10 2.276307 90 400 0.04849138 GO Molecular Function transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding 23 4.395402e-32 8.06842923652174e-30 2.052551 310 0.1162791 16 0.00000607152890125 1.900007 77 410 0.04148707 GO Molecular Function transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding 25 1.168282e-31 1.9729946416e-29 2.247954 252 0.09452363 13 0.000002147558298 2.17846 59 274 0.03178879 GO Molecular Function transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding 30 7.054395e-28 9.927885230000001e-26 2.337978 205 0.07689422 15 0.0000038387915773333335 2.283021 51 226 0.02747845 GO Molecular Function transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding 36 3.244929e-25 3.805580621666666e-23 2.663346 146 0.05476369 18 0.000010910290682222222 2.662347 35 133 0.01885776 Mouse Phenotype Single KO decreased embryo size 38 1.617811e-136 3.8984987702631574e-134 3.427615 533 0.199925 38 0.016397112175789475 1.548713 77 503 0.04148707 Mouse Phenotype Single KO abnormal embryo size 44 1.437417e-125 2.9914607884090905e-123 3.110112 556 0.2085521 26 0.005886232301538461 1.537375 93 612 0.05010776 Mouse Phenotype Single KO embryonic lethality during organogenesis 51 4.590093e-116 8.241466980588235e-114 2.697283 628 0.2355589 52 0.020215961728846155 1.425874 105 745 0.05657328 Mouse Phenotype Single KO abnormal thoracic cage morphology 53 1.531738e-115 2.6464386539622645e-113 3.389212 463 0.1736684 68 0.02378785260735294 1.560086 66 428 0.03556034 Mouse Phenotype Single KO abnormal embryonic growth/weight/body size 57 1.01882e-106 1.6367253929824562e-104 2.581332 622 0.2333083 47 0.021442459825531914 1.404785 114 821 0.06142241 Mouse Phenotype Single KO abnormal prenatal body size 58 2.651184e-105 4.185671015172414e-103 2.674524 583 0.2186797 33 0.012790480950909091 1.453034 107 745 0.05765086 Mouse Phenotype Single KO abnormal prenatal growth/weight/body size 72 5.63423e-89 7.1656450152777785e-87 2.252575 662 0.2483121 40 0.016992507545 1.374028 135 994 0.07273707 Mouse Phenotype Single KO abnormal digestive system morphology 79 3.888269e-81 4.5069467383544306e-79 2.223694 625 0.2344336 59 0.022055829566101696 1.389295 117 852 0.06303879 Mouse Phenotype Single KO neonatal lethality 95 1.712476e-69 1.6506466033684208e-67 2.14697 582 0.2183046 27 0.006884147812962962 1.487782 105 714 0.05657328 Mouse Phenotype Single KO abnormal lung morphology 96 4.175374e-68 3.982697887291667e-66 2.587725 411 0.1541635 85 0.034422315704705886 1.502722 71 478 0.03825431 Mouse Phenotype Single KO abnormal respiration 98 3.112694e-66 2.9084631589795917e-64 2.488468 427 0.160165 97 0.03682702786701031 1.497218 70 473 0.03771552 Mouse Phenotype Single KO abnormal respiratory system morphology 127 2.025322e-48 1.4603050042519685e-46 2.005749 483 0.1811703 71 0.023624247477464787 1.413898 103 737 0.05549569 Mouse Phenotype Single KO neonatal lethality, complete penetrance 139 2.299437e-45 1.5148161589208634e-43 2.10904 408 0.1530383 85 0.034422315704705886 1.502722 71 478 0.03825431 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 169 3.932296e-37 2.1306529273372784e-35 8.2924 65 0.0243811 83 0.03292311089759036 3.488592 10 29 0.005387931 Mouse Phenotype Single KO abnormal white adipose tissue amount 171 1.246914e-36 6.677188010526316e-35 3.148036 166 0.06226557 72 0.023438587869444447 1.84397 37 203 0.01993534 Mouse Phenotype Single KO abnormal white adipose tissue morphology 180 1.805165e-34 9.183275502777779e-33 2.797332 186 0.06976744 88 0.035195200047727276 1.720286 42 247 0.02262931 Mouse Phenotype Single KO abnormal epididymal fat pad morphology 198 5.670138e-31 2.62229563969697e-29 3.754623 111 0.04163541 73 0.02343953667123288 2.271145 22 98 0.01185345 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 225 1.724397e-24 7.017912590666666e-23 4.207659 76 0.02850713 56 0.021453379339285712 2.863279 15 53 0.008081897 Mouse Phenotype Single KO abnormal branching of the mammary ductal tree 241 1.920799e-22 7.298239187966805e-21 4.527231 64 0.024006 30 0.012720611376 3.461051 13 38 0.00700431 Mouse Phenotype Single KO pale yolk sac 253 4.412146e-21 1.5969178230039526e-19 3.177149 92 0.03450863 62 0.022915259575806448 2.40879 20 84 0.01077586 Mouse Phenotype abnormal radius morphology 52 2.227889e-165 4.096316678653846e-163 7.15693 325 0.1219055 140 0.025753407160714285 2.213076 21 96 0.01131466 Mouse Phenotype abnormal mandible morphology 61 3.071431e-153 4.814090457540984e-151 4.59552 436 0.1635409 77 0.00827847255974026 1.896922 39 208 0.02101293 Mouse Phenotype decreased embryo size 65 2.361179e-145 3.4731126798461543e-143 3.205958 611 0.2291823 46 0.003909750631304347 1.528923 94 622 0.05064655 Mouse Phenotype limb grasping 70 3.263321e-140 4.4572302972857143e-138 4.557515 404 0.1515379 135 0.023954242715555556 1.720286 42 247 0.02262931 Mouse Phenotype abnormal forelimb zeugopod morphology 71 1.716073e-138 2.310897739859155e-136 5.632138 330 0.1237809 123 0.021971714348780487 2.090272 25 121 0.01346983 Mouse Phenotype abnormal craniofacial bone morphology 76 5.702705e-136 7.17415296118421e-134 2.648175 740 0.2775694 29 0.0017848441831034483 1.513447 111 742 0.05980603 Mouse Phenotype abnormal embryo size 77 7.803112e-136 9.689032965194805e-134 2.966663 634 0.2378095 27 0.0015105916114444447 1.524467 110 730 0.05926724 Mouse Phenotype abnormal cranium morphology 78 2.424835e-134 2.9722881326923076e-132 2.656886 729 0.2734434 41 0.0038143772736585362 1.48901 107 727 0.05765086 Mouse Phenotype abnormal tooth morphology 80 1.097005e-132 1.311058100625e-130 4.573838 382 0.1432858 148 0.02728655134864865 1.755447 38 219 0.02047414 Mouse Phenotype abnormal joint morphology 83 1.489167e-129 1.7154127333734937e-127 3.687997 467 0.1751688 94 0.0112131408 1.656571 56 342 0.03017241 Mouse Phenotype small mandible 87 5.982407e-126 6.574459003103449e-124 4.938993 338 0.1267817 166 0.03327515405963856 1.914012 28 148 0.01508621 Mouse Phenotype abnormal forelimb morphology 93 6.1443e-117 6.316736806451612e-115 4.173848 371 0.1391598 42 0.003746698663571429 1.975208 41 210 0.02209052 Mouse Phenotype abnormal viscerocranium morphology 94 1.209464e-116 1.2301792876595744e-114 2.863695 580 0.2175544 103 0.014383735485436892 1.505953 78 524 0.04202586 Mouse Phenotype abnormal prenatal body size 97 4.263765e-115 4.202665687113402e-113 2.588541 662 0.2483121 35 0.0027393166465714287 1.450168 127 886 0.06842672 Mouse Phenotype abnormal embryonic growth/weight/body size 104 1.96996e-110 1.8110372653846154e-108 2.422266 707 0.2651913 75 0.0079719643496 1.377278 136 999 0.07327586 Mouse Phenotype abnormal respiratory system development 110 3.622263e-105 3.1484051402727273e-103 4.127952 339 0.1271568 188 0.04441995846382978 1.766446 33 189 0.01778017 Mouse Phenotype embryonic lethality during organogenesis 112 1.771528e-104 1.5122838578571429e-102 2.361788 702 0.2633158 81 0.009480125743703703 1.379101 131 961 0.0705819 Mouse Phenotype abnormal skeleton development 118 1.954159e-96 1.5833656100847458e-94 2.753236 516 0.1935484 101 0.01313699386039604 1.515569 77 514 0.04148707 Mouse Phenotype abnormal thoracic cage morphology 122 2.433248e-95 1.9069085350819672e-93 2.878993 479 0.1796699 78 0.008914608982692307 1.54564 77 504 0.04148707 Mouse Phenotype abnormal prenatal growth/weight/body size 124 1.647967e-93 1.2706622973387098e-91 2.155704 747 0.280195 66 0.006405981545 1.349488 159 1192 0.0856681