# 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 adherens junction assembly 115 4.112849e-36 4.706172173130435e-34 2.847116 196 0.01043497 620 0.004250539528064516 1.545915 29 34 0.002799228 GO Biological Process labyrinthine layer morphogenesis 307 5.657494e-18 2.424982525928339e-16 2.220273 148 0.007879465 727 0.010632709115405778 1.639837 19 21 0.001833977 GO Biological Process positive regulation of mesonephros development 365 3.265198e-16 1.177170972109589e-14 2.123797 146 0.007772986 902 0.03011828126940133 1.565299 19 22 0.001833977 GO Biological Process embryonic placenta morphogenesis 371 5.407873e-16 1.9181186201347707e-14 2.069283 153 0.008145664 852 0.02410302522535211 1.533613 22 26 0.002123552 GO Biological Process focal adhesion assembly 469 1.605068e-13 4.503430663539446e-12 2.331637 97 0.005164244 762 0.01399950953871391 1.585895 21 24 0.002027027 GO Biological Process regulation of protein export from nucleus 494 4.365607e-13 1.1628951925708502e-11 2.098214 118 0.006282277 813 0.02040894538499385 1.482915 27 33 0.002606178 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 517 1.024193e-12 2.6068386241779496e-11 2.390355 86 0.004578608 793 0.017065464041614124 1.699174 15 16 0.001447876 GO Biological Process intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress 520 1.076055e-12 2.7230399509615384e-11 2.129998 110 0.005856359 642 0.005234844920404985 1.570792 26 30 0.002509653 GO Biological Process release of cytochrome c from mitochondria 582 8.358266e-12 1.8898010703436426e-10 2.453685 75 0.003992972 974 0.044127233880903484 1.55353 18 21 0.001737452 GO Biological Process response to laminar fluid shear stress 731 4.365559e-10 7.85860340369357e-9 2.165305 81 0.00431241 960 0.040976317269791666 1.682991 13 14 0.001254826 GO Biological Process definitive hemopoiesis 882 4.837024e-9 7.21659850521542e-8 2.05915 80 0.004259171 731 0.01080061197756498 1.705837 16 17 0.001544402 GO Biological Process negative regulation of TORC1 signaling 1314 8.590684e-7 0.000008603105841400305 2.180264 49 0.002608742 960 0.040976317269791666 1.682991 13 14 0.001254826 GO Biological Process positive regulation of receptor biosynthetic process 1802 0.00002904762 0.00021211855248612653 2.424501 28 0.00149071 839 0.022568139840286053 1.812452 11 11 0.001061776 GO Cellular Component nuclear transcriptional repressor complex 99 1.511975e-10 2.6390836363636363e-9 2.060418 96 0.005111005 131 0.023180117496183206 1.49996 24 29 0.002316602 Human Phenotype Supernumerary ribs 90 1.154669e-16 8.561229152222223e-15 2.440522 112 0.005962839 144 0.003399685432152778 1.812452 16 16 0.001544402 Human Phenotype Supernumerary bones of the axial skeleton 94 1.766778e-16 1.254224424893617e-14 2.425031 112 0.005962839 223 0.017953912973991033 1.705837 16 17 0.001544402 Human Phenotype Abnormality of the parietal bone 96 2.07858e-16 1.44482961875e-14 2.514684 104 0.005536922 246 0.021525223592276422 1.812452 12 12 0.001158301 Mouse Phenotype Single KO abnormal sternebra number 51 5.861417e-33 1.0524116758627451e-30 6.226118 72 0.003833253 936 0.04954899658974359 1.673032 12 13 0.001158301 Mouse Phenotype Single KO vertebral transformation 54 5.465986e-32 9.268895148518518e-30 2.155231 294 0.01565245 335 0.0002541946845343284 1.39874 71 92 0.006853282 Mouse Phenotype Single KO abnormal metanephros morphology 101 1.564482e-24 1.418412046930693e-22 2.517619 161 0.008571581 454 0.0023621651337004403 1.721829 19 20 0.001833977 Mouse Phenotype Single KO thoracic vertebral transformation 105 6.266923e-24 5.465353705809524e-22 2.541804 154 0.008198903 874 0.038420865164759725 1.359339 36 48 0.003474903 Mouse Phenotype Single KO abnormal right subclavian artery morphology 138 1.986656e-20 1.3182470284057973e-18 2.092561 195 0.01038173 768 0.023549168977864587 1.449961 28 35 0.002702703 Mouse Phenotype Single KO abnormal facial nerve morphology 148 6.465869e-20 4.0005380022297296e-18 2.224112 165 0.008784539 458 0.002359468994978166 1.61826 25 28 0.002413127 Mouse Phenotype Single KO cervical vertebral transformation 166 5.274869e-18 2.909757556204819e-16 2.410443 125 0.006654954 604 0.009107118606953641 1.478579 31 38 0.002992278 Mouse Phenotype Single KO abnormal clavicle morphology 200 1.317153e-16 6.030585010500001e-15 2.051237 163 0.00867806 677 0.013530962106351551 1.54394 23 27 0.002220077 Mouse Phenotype Single KO absent ureter 340 1.442194e-12 3.884167781764706e-11 2.13623 108 0.00574988 549 0.005820639544262295 1.71176 17 18 0.001640927 Mouse Phenotype Single KO abnormal conotruncal ridge morphology 344 1.826677e-12 4.8624654909883714e-11 2.050469 118 0.006282277 852 0.03212882842370892 1.682991 13 14 0.001254826 Mouse Phenotype Single KO abnormal forelimb bud morphology 350 2.318696e-12 6.066371220571428e-11 2.221617 97 0.005164244 921 0.04703473662214983 1.812452 9 9 0.0008687259 Mouse Phenotype Single KO abnormal habituation 412 3.664825e-11 8.145340418689321e-10 2.440761 71 0.003780014 936 0.04954899658974359 1.673032 12 13 0.001158301 Mouse Phenotype Single KO persistent right dorsal aorta 423 5.040889e-11 1.0912392570449174e-9 2.114718 95 0.005057765 852 0.03212882842370892 1.682991 13 14 0.001254826 Mouse Phenotype Single KO increased cochlear inner hair cell number 457 1.330184e-10 2.6653161680525163e-9 2.031779 100 0.005323963 936 0.04954899658974359 1.673032 12 13 0.001158301 Mouse Phenotype Single KO increased anti-histone antibody level 525 9.662097e-10 1.6852537567428573e-8 2.776587 48 0.002555502 819 0.02917150744932845 1.812452 10 10 0.000965251 Mouse Phenotype Single KO increased osteosarcoma incidence 1068 0.000004224008 0.00003621651802996255 2.128639 45 0.002395783 716 0.018402423879888267 1.812452 11 11 0.001061776 Mouse Phenotype Single KO decreased fetal cardiomyocyte proliferation 1316 0.00002691988 0.0001873140890273556 2.005016 43 0.002289304 921 0.04703473662214983 1.812452 9 9 0.0008687259 Mouse Phenotype abnormal sternebra morphology 83 4.632102e-36 5.335846653253012e-34 2.078022 363 0.01932599 380 0.000017376007920789476 1.529256 54 64 0.005212355 Mouse Phenotype abnormal sternebra number 94 5.861417e-33 5.9618093549999996e-31 6.226118 72 0.003833253 1332 0.03635436740540541 1.673032 12 13 0.001158301 Mouse Phenotype thoracic vertebral transformation 111 5.359014e-30 4.61599395081081e-28 2.608669 187 0.009955811 857 0.005189585848774795 1.399086 44 57 0.004247104 Mouse Phenotype cervical vertebral fusion 124 6.623862e-29 5.1073181114516126e-27 2.22103 247 0.01315019 593 0.0005902161694097809 1.510376 40 48 0.003861004 Mouse Phenotype abnormal fourth pharyngeal arch morphology 134 6.961435e-27 4.967035823507463e-25 2.224079 228 0.01213864 1164 0.02319226719329897 1.461655 25 31 0.002413127 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 157 2.737223e-25 1.666916503375796e-23 2.256512 207 0.0110206 1262 0.030497552037242474 1.476813 22 27 0.002123552 Mouse Phenotype abnormal metanephros morphology 164 7.238863e-25 4.2201688501829266e-23 2.393736 180 0.009583134 576 0.00044481108390625004 1.678196 25 27 0.002413127 Mouse Phenotype abnormal ureteric bud elongation 190 2.752257e-22 1.3849646935263156e-20 2.364158 164 0.0087313 889 0.006317671119347582 1.639837 19 21 0.001833977 Mouse Phenotype abnormal ureteric bud invasion 250 3.861666e-19 1.47685554504e-17 2.625049 114 0.006069318 1412 0.046417564829320114 1.585895 14 16 0.001351351 Mouse Phenotype cervical vertebral transformation 296 4.376467e-17 1.413628411722973e-15 2.158909 149 0.007932705 645 0.0011081863081860465 1.517401 36 43 0.003474903 Mouse Phenotype fusion of atlas and occipital bones 345 1.9514e-15 5.407923304347826e-14 3.497502 58 0.003087899 1187 0.024078746201347936 1.682991 13 14 0.001254826 Mouse Phenotype absent ureter 383 2.668416e-14 6.661285998955613e-13 2.115494 128 0.006814673 1045 0.01427826016076555 1.533613 22 26 0.002123552 Mouse Phenotype arrest of tooth development 439 3.72318e-13 8.108729835990887e-12 2.168135 110 0.005856359 1304 0.03468573160812883 1.812452 9 9 0.0008687259 Mouse Phenotype abnormal rib development 440 3.820629e-13 8.302053152045455e-12 2.117945 116 0.006175797 1282 0.0316134465 1.427992 26 33 0.002509653 Mouse Phenotype absent sternum 479 1.991507e-12 3.975114494154489e-11 2.069216 115 0.006122558 1141 0.021862873070113933 1.812452 10 10 0.000965251 Mouse Phenotype persistent right dorsal aorta 486 2.479839e-12 4.8785474648148147e-11 2.092119 111 0.005909599 893 0.006423839969092945 1.705837 16 17 0.001544402 Mouse Phenotype abnormal forelimb bud morphology 502 5.231239e-12 9.963321928087649e-11 2.043374 114 0.006069318 1332 0.03635436740540541 1.673032 12 13 0.001158301 Mouse Phenotype decreased mesenchymal cell proliferation involved in lung development 514 7.189097e-12 1.3372559614202335e-10 2.381979 80 0.004259171 1141 0.021862873070113933 1.812452 10 10 0.000965251 Mouse Phenotype exophthalmos 525 9.323589e-12 1.6979587510285714e-10 2.145568 99 0.005270724 961 0.009651641463683663 1.631207 18 20 0.001737452 Mouse Phenotype increased embryonic neuroepithelium apoptosis 568 5.106547e-11 8.595721103345069e-10 2.257279 82 0.00436565 1125 0.020569203951999997 1.522459 21 25 0.002027027