# 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 positive regulation of adherens junction organization 45 1.213507e-12 3.5485641362222223e-10 3.393347 48 0.01070234 344 0.0038684476273255814 2.428558 16 26 0.003362757 GO Biological Process positive regulation of focal adhesion assembly 46 1.376736e-12 3.9383628313043476e-10 3.434428 47 0.01047938 359 0.004777992579944289 2.466504 15 24 0.003152585 GO Biological Process positive regulation of cell junction assembly 55 7.930475e-12 1.8974021913636363e-9 3.079338 51 0.01137124 351 0.004085588324786325 2.291462 18 31 0.003783102 GO Biological Process regulation of cyclin-dependent protein kinase activity 113 9.302513e-9 0.0000010832899873185838 2.136332 70 0.01560758 526 0.024574640142015207 1.624991 35 85 0.007356032 GO Biological Process positive regulation of cell-matrix adhesion 137 4.088833e-8 0.0000039273688647445254 2.212155 59 0.01315496 504 0.021184812478373016 1.887412 22 46 0.004623792 GO Biological Process regulation of focal adhesion assembly 141 4.854653e-8 0.000004530665165035461 2.081936 67 0.01493868 485 0.01834186885670103 1.82704 25 54 0.005254309 GO Biological Process regulation of adherens junction organization 145 6.610475e-8 0.000005999120036206897 2.051495 68 0.01516165 493 0.018808943435496956 1.800115 26 57 0.005464481 GO Biological Process positive regulation of morphogenesis of an epithelium 146 6.998649e-8 0.0000063078919308904116 2.266987 54 0.01204013 489 0.018899141479141103 2.096528 17 32 0.00357293 GO Biological Process regulation of mitochondrial membrane potential 160 1.165136e-7 0.00000958251539 2.3597 48 0.01070234 567 0.031302197529100524 1.69999 28 65 0.005884826 GO Biological Process positive regulation of viral process 164 1.614592e-7 0.000012955131785365854 2.012442 67 0.01493868 539 0.026292927100185527 1.555795 41 104 0.008617066 GO Biological Process negative regulation of cardiac muscle hypertrophy in response to stress 202 7.380057e-7 0.00004807632181336634 4.159686 18 0.004013378 408 0.008517840051470589 3.946406 6 6 0.001261034 GO Biological Process blood vessel endothelial cell migration 217 0.000001209235 0.00007332867910138248 2.30674 42 0.009364548 246 0.00047196748746747963 2.683556 17 25 0.00357293 GO Biological Process positive regulation of mitochondrial membrane permeability 233 0.000001685618 0.00009519762773390558 3.141208 24 0.005351171 536 0.025984286777985074 2.367844 12 20 0.002522068 GO Biological Process negative regulation of tyrosine phosphorylation of STAT protein 248 0.00000362642 0.00019241959991935482 4.635027 14 0.003121516 362 0.0051111155436464085 3.228878 9 11 0.001891551 GO Biological Process negative regulation of muscle adaptation 287 0.000007887255 0.0003616320158362369 3.123287 21 0.004682274 562 0.030534967793594308 2.870113 8 11 0.001681379 GO Biological Process positive regulation of mesonephros development 346 0.00001900473 0.0007227839366184971 2.193133 36 0.008026756 503 0.020906885778727638 2.331967 13 22 0.00273224 GO Biological Process regulation of cell migration involved in sprouting angiogenesis 381 0.00003205342 0.0011070628708136484 2.254337 32 0.007134894 574 0.032400644587108014 2.230577 13 23 0.00273224 GO Biological Process Schwann cell development 419 0.00004690713 0.001473152562458234 2.353805 28 0.006243032 599 0.03838073886811352 2.124988 14 26 0.002942413 GO Biological Process branching involved in mammary gland duct morphogenesis 431 0.00005414033 0.0016529758758004642 2.132761 34 0.007580825 446 0.012552538275560538 2.443013 13 21 0.00273224 GO Biological Process mitochondrion transport along microtubule 479 0.00008326205 0.0022873597410229644 2.808101 19 0.004236343 572 0.032113067164335665 2.411693 11 18 0.002311896 GO Cellular Component cytoplasmic microtubule 87 0.00008395411 0.0016675023227586208 2.034753 36 0.008026756 64 0.0120397779 1.894275 24 50 0.005044136 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 14 1.808093e-8 0.0000054526918899999995 3.311398 31 0.006911929 78 0.031347667984615385 2.177327 16 29 0.003362757 Human Phenotype Coronal cleft vertebrae 14 2.137292e-8 0.000010187249654285715 6.568652 15 0.003344482 85 0.009267164077647059 3.507916 8 9 0.001681379 Human Phenotype Steppage gait 51 0.000007785052 0.001018620627372549 2.665713 27 0.006020067 159 0.03989675483333333 2.10475 16 30 0.003362757 Human Phenotype Abnormality of the shoulder 55 0.00001029821 0.0012494537332727272 2.203346 38 0.008472687 126 0.02278720931349206 2.164158 17 31 0.00357293 Human Phenotype Posterior subcapsular cataract 76 0.00002560434 0.0022481284318421053 3.878752 14 0.003121516 169 0.043236854568047337 2.732127 9 13 0.001891551 Human Phenotype Bicuspid aortic valve 89 0.00003999549 0.0029987629749438204 2.065803 38 0.008472687 113 0.018882174728318584 2.152585 18 33 0.003783102 Human Phenotype Low posterior hairline 130 0.0001404297 0.007208364523846153 2.050511 33 0.00735786 51 0.004566799701568627 2.321415 20 34 0.004203447 Human Phenotype Impaired distal vibration sensation 141 0.0002038362 0.009646801153191489 3.825054 11 0.00245262 124 0.022408692784677418 3.453105 7 8 0.001471206 Human Phenotype Ectopic kidney 190 0.0004766668 0.016741039770526316 2.007138 29 0.006465998 167 0.04194567883832335 2.209987 14 25 0.002942413 Mouse Phenotype Single KO abnormal heart ventricle wall thickness 1 1.264783e-15 1.1581617931000001e-11 2.137979 136 0.0303233 327 0.017306223144648317 1.513284 51 133 0.01071879 Mouse Phenotype Single KO abnormal interventricular septum thickness 5 1.333484e-12 2.4421425976e-9 3.152153 53 0.01181717 130 0.0014002271585384614 2.202645 24 43 0.005044136 Mouse Phenotype Single KO thin ventricular wall 8 2.163479e-10 2.476372150375e-7 2.012267 99 0.02207358 340 0.019233917606470585 1.603227 39 96 0.008196721 Mouse Phenotype Single KO abnormal adipose tissue physiology 9 9.217066e-10 9.377852595777777e-7 2.01218 92 0.02051282 135 0.0017878255676296295 1.767661 43 96 0.009037411 Mouse Phenotype Single KO abnormal adipocyte glucose uptake 33 1.830921e-8 0.000005080528362727273 2.674775 43 0.009587514 271 0.010804215899261994 2.152585 18 33 0.003783102 Mouse Phenotype Single KO thin interventricular septum 38 4.319716e-8 0.000010409378792631577 3.522459 27 0.006020067 316 0.015937425254746833 2.492467 12 19 0.002522068 Mouse Phenotype Single KO abnormal Mullerian duct morphology 42 6.883764e-8 0.000015008244511428572 2.547645 43 0.009587514 470 0.04929226738085106 1.916826 17 35 0.00357293 Mouse Phenotype Single KO pale placenta 95 0.000007084984 0.0006829178788210526 3.52333 18 0.004013378 380 0.02638695578421053 2.732127 9 13 0.001891551 Mouse Phenotype Single KO persistent right dorsal aorta 99 0.000007804488 0.0007218757233939393 2.610294 28 0.006243032 464 0.04690063441163793 2.536975 9 14 0.001891551 Mouse Phenotype Single KO abnormal B cell apoptosis 126 0.0000213911 0.001554589703968254 2.04129 42 0.009364548 145 0.0022218279562758623 2.226178 22 39 0.004623792 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 174 0.00006852895 0.0036064344548850575 2.193649 31 0.006911929 336 0.01918122513125 2.553557 11 17 0.002311896 Mouse Phenotype Single KO abnormal spleen periarteriolar lymphoid sheath morphology 231 0.0002034253 0.008063919792640692 3.82597 11 0.00245262 380 0.02638695578421053 2.732127 9 13 0.001891551 Mouse Phenotype Single KO retroesophageal right subclavian artery 234 0.0002080115 0.00814000557905983 2.221174 26 0.005797101 316 0.015937425254746833 2.492467 12 19 0.002522068 Mouse Phenotype Single KO decreased transitional stage T1 B cell number 275 0.0003644883 0.012136797684 3.858501 10 0.002229654 397 0.030079707052896726 2.870113 8 11 0.001681379 Mouse Phenotype Single KO increased hemangiosarcoma incidence 333 0.0007090055 0.01949658667717718 2.295792 20 0.004459309 463 0.04692383018142548 2.137637 13 24 0.00273224 Mouse Phenotype Single KO thyroid hypoplasia 363 0.0009221464 0.023261968553168044 3.412693 10 0.002229654 253 0.009558713608695653 3.946406 6 6 0.001261034 Mouse Phenotype Single KO abnormal transitional stage T2 B cell morphology 375 0.001046806 0.025561606778666666 2.574383 15 0.003344482 272 0.010850708345588236 2.713154 11 16 0.002311896 Mouse Phenotype Single KO exophthalmos 412 0.001427401 0.03172502659466019 2.162751 20 0.004459309 359 0.022640401923398328 2.630937 10 15 0.002101723 Mouse Phenotype Single KO abnormal retinal nerve fiber layer morphology 426 0.001699441 0.036530002903755875 2.296288 17 0.003790412 464 0.04690063441163793 2.536975 9 14 0.001891551 Mouse Phenotype abnormal adipose tissue physiology 24 3.068599e-11 1.222453126625e-8 2.008148 109 0.02430323 230 0.0002184932097652174 1.753958 52 117 0.01092896 Mouse Phenotype abnormal adipocyte glucose uptake 32 3.005632e-10 8.980264859999999e-8 2.801896 50 0.01114827 703 0.027237643365576103 1.874543 19 40 0.003993274 Mouse Phenotype abnormal interventricular septum thickness 47 2.240398e-9 4.5575415485106384e-7 2.148391 75 0.01672241 265 0.0005641076590188678 1.944606 34 69 0.00714586 Mouse Phenotype decreased susceptibility to hepatic steatosis 51 3.400158e-9 6.374296203529412e-7 2.252814 66 0.01471572 634 0.019934760402208204 1.640065 32 77 0.006725515 Mouse Phenotype increased embryonic neuroepithelium apoptosis 60 1.188985e-8 0.0000018946475975 3.458559 30 0.006688963 608 0.01650753825986842 2.209987 14 25 0.002942413 Mouse Phenotype lethality during fetal growth through weaning, incomplete penetrance 72 7.904657e-8 0.000010496725774583332 4.030228 22 0.00490524 801 0.041040992367041194 2.321415 10 17 0.002101723 Mouse Phenotype pale placenta 83 2.712258e-7 0.000031243251491566266 3.89033 21 0.004682274 407 0.00307224998992629 2.894031 11 15 0.002311896 Mouse Phenotype absent Mullerian ducts 93 5.075091e-7 0.000052175209732258065 4.272259 18 0.004013378 464 0.005441919265086207 3.946406 6 6 0.001261034 Mouse Phenotype abnormal Mullerian duct morphology 109 0.000001092946 0.00009586841014678899 2.084767 53 0.01181717 489 0.007275463479754601 1.973203 22 44 0.004623792 Mouse Phenotype increased body temperature 118 0.000001676121 0.00013580841424576273 2.458766 36 0.008026756 746 0.032425593213136726 1.916826 17 35 0.00357293 Mouse Phenotype thick interventricular septum 121 0.000002057854 0.00016260448011570246 2.257012 42 0.009364548 408 0.0030805354529411764 2.124988 21 39 0.004413619 Mouse Phenotype abnormal white fat cell number 150 0.000004204984 0.00026802568016 2.390647 35 0.00780379 645 0.020950107669767442 2.230577 13 23 0.00273224 Mouse Phenotype abnormal third pharyngeal arch artery morphology 179 0.00001053603 0.000562765267206704 2.390722 32 0.007134894 699 0.02602065132618026 2.255089 12 21 0.002522068 Mouse Phenotype decreased DN4 thymocyte number 190 0.00001524385 0.0007670865781578947 2.513293 28 0.006243032 748 0.03270980432486631 2.284761 11 19 0.002311896 Mouse Phenotype absent hypoglossal canal 191 0.00001546776 0.0007742788134031414 5.702199 10 0.002229654 876 0.0495616918630137 2.959805 6 8 0.001261034 Mouse Phenotype enlarged liver sinusoidal spaces 192 0.00001616822 0.0008051268303124999 2.132964 39 0.008695652 480 0.00656880139125 2.02133 21 41 0.004413619 Mouse Phenotype abnormal sublingual gland morphology 202 0.00001851363 0.0008762812694554455 3.273899 18 0.004013378 773 0.03762666614359638 2.630937 8 12 0.001681379 Mouse Phenotype abnormal third pharyngeal arch morphology 209 0.00002148949 0.0009830670521052633 2.153514 37 0.008249721 366 0.0020372850478688523 2.396032 17 28 0.00357293 Mouse Phenotype persistent right dorsal aorta 212 0.00002314494 0.0010438149591509435 2.36803 30 0.006688963 558 0.012059561737096774 2.553557 11 17 0.002311896 Mouse Phenotype decreased transitional stage T1 B cell number 220 0.00002955235 0.0012843182652272727 3.287964 17 0.003790412 401 0.0027231659274314216 2.785698 12 17 0.002522068