# 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 heart morphogenesis 13 1.945756e-22 1.9695540926153845e-19 3.514497 86 0.02757294 556 0.02785521260611511 2.593807 12 34 0.004696673 GO Biological Process semaphorin-plexin signaling pathway 17 3.679976e-21 2.8485178931764706e-18 4.538732 60 0.01923693 482 0.018473759025103734 3.062133 10 24 0.003913894 GO Biological Process outflow tract morphogenesis 45 8.524997e-17 2.4928985671777776e-14 2.418703 113 0.03622956 577 0.03200542470710572 2.05343 19 68 0.007436399 GO Biological Process positive regulation of epithelial cell migration 55 5.095087e-16 1.2190227242363637e-13 2.20906 129 0.04135941 87 2.897628437816092e-7 2.620121 41 115 0.01604697 GO Biological Process regulation of cell-substrate adhesion 58 7.789962e-16 1.7673812061724137e-13 2.016612 157 0.05033665 53 8.87755300037736e-9 2.383498 60 185 0.02348337 GO Biological Process stem cell differentiation 60 1.329011e-15 2.9147426248333336e-13 2.0247 153 0.04905418 198 0.00011169724727777776 2.155005 39 133 0.01526419 GO Biological Process regulation of extrinsic apoptotic signaling pathway via death domain receptors 62 1.519878e-15 3.225818484193548e-13 3.453933 59 0.01891632 422 0.011732417842417062 2.320775 18 57 0.00704501 GO Biological Process positive regulation of angiogenesis 79 1.311324e-14 2.1842674070886075e-12 2.290633 108 0.03462648 289 0.0018804397684775084 1.959765 36 135 0.01409002 GO Biological Process negative regulation of osteoblast differentiation 92 4.254295e-14 6.085029120108696e-12 3.268931 57 0.01827509 656 0.04571797670121951 2.330209 13 41 0.005088063 GO Biological Process positive regulation of vasculature development 102 9.410295e-14 1.2140203127941174e-11 2.139553 117 0.03751202 237 0.0005149678594852321 1.982328 41 152 0.01604697 GO Biological Process regulation of cell-matrix adhesion 107 2.175772e-13 2.6757928736448595e-11 2.257705 101 0.03238217 125 0.00000516310840152 2.572192 35 100 0.01369863 GO Biological Process cell cycle arrest 123 7.170495e-13 7.671263715853659e-11 2.111205 112 0.03590895 284 0.001740614601866197 1.910771 39 150 0.01526419 GO Biological Process cellular response to decreased oxygen levels 127 1.366082e-12 1.4154545699212596e-10 2.113411 109 0.0349471 507 0.022900265098816566 1.624542 42 190 0.01643836 GO Biological Process negative regulation of cell junction assembly 128 1.418181e-12 1.457956545234375e-10 4.636848 33 0.01058031 344 0.004094025019767442 3.67456 10 20 0.003913894 GO Biological Process regulation of extrinsic apoptotic signaling pathway 132 2.004838e-12 1.9986108516666665e-10 2.116617 107 0.03430587 302 0.002249735842384106 1.885629 39 152 0.01526419 GO Biological Process cellular response to hypoxia 136 3.723402e-12 3.6026652145588233e-10 2.102588 106 0.03398525 491 0.020443021067820775 1.646524 41 183 0.01604697 GO Biological Process negative regulation of focal adhesion assembly 140 4.371873e-12 4.1092483433571425e-10 5.233043 28 0.008977236 637 0.041798954095761384 3.429589 7 15 0.002739726 GO Biological Process cellular response to oxygen levels 142 4.531245e-12 4.1990600672535213e-10 2.039833 113 0.03622956 581 0.031963777222030976 1.569715 44 206 0.01722114 GO Biological Process platelet degranulation 149 7.205629e-12 6.363682685302014e-10 2.284354 86 0.02757294 599 0.0338929926293823 1.736012 30 127 0.01174168 GO Biological Process positive regulation of endothelial cell migration 156 1.110427e-11 9.366736469871795e-10 2.252097 87 0.02789356 152 0.000019504538174342105 2.743671 28 75 0.0109589 GO Cellular Component stress fiber 30 3.644468e-14 2.0992135679999998e-12 3.324032 56 0.01795447 27 0.000446233984 2.826584 20 52 0.007827789 GO Cellular Component actin filament bundle 36 1.02164e-12 4.9038720000000004e-11 2.981791 58 0.0185957 22 0.0002524395141818182 2.787597 22 58 0.008610568 GO Cellular Component actomyosin 42 2.070502e-11 8.518636799999999e-10 2.729567 59 0.01891632 34 0.00102870432 2.52626 22 64 0.008610568 GO Cellular Component caveola 83 5.555201e-7 0.000011565526901204818 2.010009 61 0.01955755 52 0.011893016492307692 2.127377 22 76 0.008610568 GO Cellular Component T-tubule 89 0.000001598213 0.00003103047262921348 2.18386 46 0.01474832 28 0.00044516106514285716 3.006458 18 44 0.00704501 GO Cellular Component laminin complex 96 0.00000558897 0.00010060145999999999 5.206963 12 0.003847387 46 0.0051879744 5.51184 6 8 0.002348337 GO Cellular Component basal lamina 98 0.000006153476 0.00010850210742857142 3.174149 21 0.006732927 63 0.02705448137142857 3.149623 9 21 0.003522505 GO Cellular Component transcription factor AP-1 complex 103 0.000009101175 0.00015268767378640775 8.126581 8 0.002564925 67 0.03932200692537313 5.879295 4 5 0.001565558 GO Cellular Component pronucleus 132 0.0001810471 0.0023700711272727276 3.877778 11 0.003526771 72 0.048561624000000005 3.429589 7 15 0.002739726 GO Molecular Function neuropilin binding 9 3.366827e-18 1.579415954888889e-15 6.020455 39 0.01250401 58 0.026348562968965518 4.286986 7 12 0.002739726 GO Molecular Function extracellular matrix binding 58 1.9091e-8 0.0000013896931379310343 2.567036 46 0.01474832 31 0.002737155286451613 2.737907 19 51 0.007436399 GO Molecular Function histone acetyltransferase binding 59 1.976246e-8 0.0000014141882393220338 3.15173 33 0.01058031 63 0.03092465554603175 2.994086 11 27 0.004305284 GO Molecular Function death domain binding 64 7.822425e-8 0.0000051603559921875 4.865187 18 0.00577108 69 0.049572992368115944 4.409472 6 10 0.002348337 GO Molecular Function fibronectin binding 92 0.00000253263 0.00011622569413043479 2.83767 27 0.008656621 63 0.03092465554603175 2.994086 11 27 0.004305284 GO Molecular Function Wnt-activated receptor activity 128 0.00003215513 0.00106061686609375 2.67961 23 0.007374158 47 0.016119254646808513 3.499581 10 21 0.003913894 GO Molecular Function Wnt-protein binding 140 0.00006019584 0.0018153345462857144 2.278169 29 0.009297852 62 0.030545155358064516 2.84482 12 31 0.004696673 GO Molecular Function S100 protein binding 161 0.00009391492 0.002462787529440994 4.186985 11 0.003526771 68 0.04297281364411765 3.957218 7 13 0.002739726 Mouse Phenotype Single KO abnormal palatal shelf elevation 7 1.367588e-23 1.7890004737142855e-20 4.215717 73 0.02340494 252 0.005338607308333334 2.98558 13 32 0.005088063 Mouse Phenotype Single KO failure of palatal shelf elevation 15 6.104788e-19 3.726769581066667e-16 4.823455 50 0.01603078 452 0.02976361296902655 3.006458 9 22 0.003522505 Mouse Phenotype Single KO increased skin papilloma incidence 54 2.407921e-11 4.083209740185185e-9 5.241244 26 0.008336005 452 0.02976361296902655 3.006458 9 22 0.003522505 Mouse Phenotype Single KO abnormal autonomic nervous system morphology 69 1.28401e-10 1.7040115318840578e-8 2.17562 84 0.02693171 287 0.007721903473867597 2.139617 23 79 0.009001957 Mouse Phenotype Single KO abnormal sympathetic system morphology 106 8.411903e-9 7.266773185943397e-7 2.353911 57 0.01827509 222 0.003691490695900901 2.493451 19 56 0.007436399 Mouse Phenotype Single KO increased papilloma incidence 119 1.652921e-8 0.0000012719157644537814 3.176232 33 0.01058031 252 0.005338607308333334 2.98558 13 32 0.005088063 Mouse Phenotype Single KO abnormal osteocyte morphology 126 3.265018e-8 0.0000023728388750793654 4.883093 19 0.006091696 311 0.009014206743086816 3.91953 8 15 0.003131115 Mouse Phenotype Single KO abnormal paravertebral ganglion morphology 192 4.339587e-7 0.0000206966657078125 2.531269 38 0.01218339 284 0.007360554590492957 2.556215 16 46 0.006262231 Mouse Phenotype Single KO abnormal osteoblast differentiation 240 0.000002241809 0.00008553435422083333 2.272297 41 0.01314524 192 0.0021079289998958335 2.776334 17 45 0.00665362 Mouse Phenotype Single KO decreased chondrocyte number 244 0.000002500268 0.000093831779 2.776725 28 0.008977236 255 0.0058257300827450976 4.199497 8 14 0.003131115 Mouse Phenotype Single KO abnormal cell adhesion 246 0.000002537917 0.00009447034946747968 2.187829 44 0.01410709 269 0.0066845112814126395 2.366666 19 59 0.007436399 Mouse Phenotype Single KO increased hemoglobin content 258 0.000003545385 0.00012583368389534885 2.228652 41 0.01314524 502 0.0379540868247012 2.08225 17 60 0.00665362 Mouse Phenotype Single KO increased width of hypertrophic chondrocyte zone 271 0.000004460764 0.00015072773412546126 2.45523 33 0.01058031 276 0.007046630004347826 2.895108 13 33 0.005088063 Mouse Phenotype Single KO hypotension 297 0.000008253345 0.000254464242979798 2.779028 25 0.00801539 171 0.001156896450994152 3.67456 12 24 0.004696673 Mouse Phenotype Single KO liver hypoplasia 305 0.000008990675 0.0002699265933606558 2.021374 47 0.01506893 425 0.02411721104470588 2.191843 17 57 0.00665362 Mouse Phenotype Single KO abnormal superior cervical ganglion morphology 329 0.00001567468 0.00043627065276595744 2.377235 31 0.009939083 405 0.020421602251851852 2.449706 14 42 0.005479452 Mouse Phenotype Single KO abnormal sympathetic ganglion morphology 363 0.00003257562 0.0008217491800000001 2.020332 41 0.01314524 272 0.006781899758455882 2.498701 17 50 0.00665362 Mouse Phenotype Single KO decreased bone strength 372 0.00003690151 0.0009083524921236558 2.385726 28 0.008977236 348 0.012142305672126439 2.994086 11 27 0.004305284 Mouse Phenotype Single KO abnormal kidney corticomedullary boundary morphology 381 0.00004334138 0.0010416719597375328 3.184289 17 0.005450465 392 0.01892531618086735 4.409472 6 10 0.002348337 Mouse Phenotype Single KO abnormal retinal apoptosis 411 0.00005626928 0.0012536686057420924 2.100244 35 0.01122155 488 0.03601836521926229 2.286393 14 45 0.005479452 Mouse Phenotype abnormal palatal shelf elevation 24 8.026857e-17 3.1976991573749996e-14 2.963246 80 0.02564925 442 0.004938063982126696 2.556215 16 46 0.006262231 Mouse Phenotype failure of palatal shelf elevation 30 9.0342e-15 2.8791995399999997e-12 3.396365 57 0.01827509 565 0.01468681793681416 2.672407 12 33 0.004696673 Mouse Phenotype interstitial pneumonia 40 6.57298e-14 1.5711065445e-11 5.379225 32 0.0102597 332 0.0013823616339759036 3.67456 11 22 0.004305284 Mouse Phenotype abnormal liver lobule morphology 47 3.513663e-13 7.147687647446809e-11 2.038198 125 0.04007695 425 0.004219024088470588 1.629721 53 239 0.02074364 Mouse Phenotype palatal shelf hypoplasia 58 2.445456e-12 4.0312077268965517e-10 3.319229 48 0.01538955 772 0.03947376504792746 2.939648 8 20 0.003131115 Mouse Phenotype decreased retinal apoptosis 83 6.444739e-11 7.423873443253012e-9 6.01041 22 0.007053543 547 0.014160936931809873 4.409472 6 10 0.002348337 Mouse Phenotype abnormal sympathetic system morphology 116 2.012919e-9 1.6590964274999998e-7 2.090481 80 0.02564925 272 0.0006180515120955883 2.386078 25 77 0.009784736 Mouse Phenotype increased hemoglobin content 128 4.155696e-9 3.10411011375e-7 2.382077 58 0.0185957 321 0.0011672661522429905 2.380701 23 71 0.009001957 Mouse Phenotype abnormal lung endothelial cell proliferation 136 5.466039e-9 3.8427057999264704e-7 6.707067 16 0.005129849 536 0.01370131969925373 5.249371 5 7 0.001956947 Mouse Phenotype ectopic Bergmann glia cells 142 9.691706e-9 6.525521201830986e-7 6.978315 15 0.004809234 451 0.005243937145676275 6.124266 5 6 0.001956947 Mouse Phenotype clavicle hypoplasia 155 1.788581e-8 0.0000011032659961935483 3.793643 26 0.008336005 547 0.014160936931809873 4.409472 6 10 0.002348337 Mouse Phenotype abnormal liver sinusoid morphology 158 2.015727e-8 0.0000012197699903164557 2.354835 54 0.01731324 357 0.0018349227488235293 2.261267 24 78 0.009393346 Mouse Phenotype abnormal plasma cell differentiation 159 2.018853e-8 0.0000012139782096226414 6.09595 16 0.005129849 738 0.03617770984552846 3.67456 6 12 0.002348337 Mouse Phenotype abnormal bone marrow morphology 164 2.50148e-8 0.0000014583323341463413 2.407356 51 0.01635139 634 0.02116365051104101 2.05343 19 68 0.007436399 Mouse Phenotype premature bone ossification 194 8.715611e-8 0.000004295358596443299 2.491049 44 0.01410709 636 0.021287957358490567 2.826584 10 26 0.003913894 Mouse Phenotype abnormal cell adhesion 218 2.160135e-7 0.000009473876483944953 2.147019 56 0.01795447 468 0.007311543896794872 2.127377 22 76 0.008610568 Mouse Phenotype abnormal Bergmann glial cell morphology 225 2.751554e-7 0.000011692270130666666 3.884038 21 0.006732927 616 0.018967068340909093 3.67456 7 14 0.002739726 Mouse Phenotype abnormal osteoblast differentiation 242 4.265838e-7 0.000016853585585950413 2.013468 62 0.01987817 329 0.001319263105987842 2.413144 22 67 0.008610568 Mouse Phenotype cardiac ischemia 256 7.351378e-7 0.00002745567385078125 8.098292 10 0.003206156 650 0.022426252181538462 5.879295 4 5 0.001565558 Mouse Phenotype pancytopenia 259 8.093728e-7 0.00002987804378687259 3.183547 25 0.00801539 790 0.04396622219240506 2.534179 10 29 0.003913894