# 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 actin filament organization 31 5.061104e-36 2.1483570172903227e-33 2.061565 365 0.03920516 339 0.0006264332245722713 1.42762 96 199 0.01513002 GO Biological Process negative regulation of fibroblast growth factor receptor signaling pathway 33 6.983155e-35 2.784585958939394e-32 3.526964 138 0.01482277 588 0.013731821564455784 2.466115 10 12 0.001576044 GO Biological Process regulation of keratinocyte differentiation 97 2.126631e-21 2.8849832297938143e-19 2.651842 126 0.01353383 756 0.03398494513888889 1.713301 22 38 0.003467297 GO Biological Process synaptic vesicle exocytosis 104 5.438398e-21 6.881142238653847e-19 2.371534 152 0.01632653 683 0.024094206065885793 1.575132 33 62 0.005200946 GO Biological Process regulation of fibroblast growth factor receptor signaling pathway 110 2.254649e-20 2.6971751082727274e-18 2.333821 152 0.01632653 650 0.019803286818153847 1.934952 17 26 0.002679275 GO Biological Process regulation of epidermal cell differentiation 125 1.955434e-19 2.05852448048e-17 2.242494 157 0.01686359 671 0.021355645005961252 1.609465 31 57 0.004885737 GO Biological Process regulation of mitochondrial membrane permeability 136 7.140819e-19 6.909267442720588e-17 2.460558 126 0.01353383 409 0.0022661931109290955 1.662094 41 73 0.006461781 GO Biological Process mitotic DNA damage checkpoint 182 1.512962e-16 1.0939047779120879e-14 2.159694 143 0.01535983 789 0.0372201564486692 1.420482 48 100 0.007565012 GO Biological Process calcium ion regulated exocytosis 185 2.122049e-16 1.5094077184324324e-14 2.066559 157 0.01686359 717 0.028045701453277547 1.520771 37 72 0.005831363 GO Biological Process regulation of membrane permeability 195 7.175702e-16 4.84231090348718e-14 2.215407 129 0.01385607 443 0.0033605679952595936 1.607542 44 81 0.006934594 GO Biological Process intermediate filament-based process 214 3.128641e-15 1.92382181864486e-13 2.6825 85 0.009129968 579 0.012585215327633853 1.761511 25 42 0.00394011 GO Biological Process intermediate filament cytoskeleton organization 243 3.982371e-14 2.156544032469136e-12 2.609038 82 0.008807734 660 0.01982678293348485 1.732295 24 41 0.003782506 GO Biological Process hepatocyte apoptotic process 313 3.684824e-12 1.5491565180830673e-10 3.950524 38 0.004081633 588 0.013731821564455784 2.466115 10 12 0.001576044 GO Biological Process actin filament bundle organization 349 3.559337e-11 1.3420434264469913e-9 2.098316 98 0.01052632 584 0.013429791490068491 1.682761 29 51 0.004570528 GO Biological Process activation of JUN kinase activity 412 7.796103e-10 2.490022314975728e-8 2.195524 76 0.008163265 609 0.015448305153858784 1.808484 22 36 0.003467297 GO Biological Process endoplasmic reticulum organization 421 9.154544e-10 2.8613929809026127e-8 2.372464 64 0.006874329 587 0.013565559298296422 1.775603 24 40 0.003782506 GO Biological Process positive regulation of epidermal growth factor receptor signaling pathway 426 1.233015e-9 3.8087428133802816e-8 2.411267 61 0.006552095 439 0.0032613757189066056 1.919571 24 37 0.003782506 GO Biological Process positive regulation of ERBB signaling pathway 437 1.706227e-9 5.1378126070938214e-8 2.298986 66 0.007089151 365 0.0009933552444931508 1.972892 26 39 0.004097715 GO Biological Process prostaglandin biosynthetic process 469 4.795235e-9 1.3454263830490404e-7 3.155076 36 0.00386681 652 0.019826213211656445 2.1373 13 18 0.002048857 GO Biological Process desmosome organization 494 1.252943e-8 3.3375459386639683e-7 3.221945 33 0.003544576 546 0.009601917443772893 2.663404 9 10 0.00141844 GO Cellular Component desmosome 96 3.728225e-8 6.710805000000001e-7 2.40744 50 0.005370569 85 0.004690336828235294 2.096198 17 24 0.002679275 GO Cellular Component apicolateral plasma membrane 102 7.526331e-8 0.0000012750490164705882 2.452954 46 0.004940924 119 0.03119702157983193 2.02481 13 19 0.002048857 GO Cellular Component zonula adherens 177 0.00005634817 0.0005501109477966102 3.119065 17 0.001825994 126 0.038802144 2.589421 7 8 0.001103231 Mouse Phenotype Single KO abnormal fibroblast physiology 10 6.955627e-38 6.369267643899999e-35 2.025813 401 0.04307197 294 0.003790739486054422 1.366932 97 210 0.01528763 Mouse Phenotype Single KO increased cell proliferation 39 1.848159e-26 4.339382554615384e-24 2.006076 283 0.03039742 502 0.024974841930278883 1.353946 70 153 0.01103231 Mouse Phenotype Single KO decreased fibroblast cell migration 57 1.21334e-21 1.9492200666666665e-19 2.6348 129 0.01385607 234 0.001079463161880342 2.02926 24 35 0.003782506 Mouse Phenotype Single KO decreased cell migration 64 3.49673e-20 5.0030557203125e-18 2.428693 139 0.01493018 352 0.006666095690624999 1.76301 28 47 0.004412924 Mouse Phenotype Single KO abnormal fibroblast migration 66 8.563339e-20 1.188098412469697e-17 2.467611 132 0.0141783 232 0.0010674895106465518 1.948832 27 41 0.004255319 Mouse Phenotype Single KO abnormal anterior commissure morphology 83 1.200489e-17 1.3244431051807228e-15 2.182038 150 0.01611171 185 0.0003296367548324324 2.021011 28 41 0.004412924 Mouse Phenotype Single KO acanthosis 96 6.85782e-16 6.54136018125e-14 3.035907 73 0.007841031 474 0.021163295210970462 1.745251 23 39 0.003624901 Mouse Phenotype Single KO enlarged inguinal lymph nodes 101 1.352037e-15 1.2258022583168315e-13 4.885729 40 0.004296455 621 0.041719985041867955 2.589421 7 8 0.001103231 Mouse Phenotype Single KO absent segment of posterior cerebral artery 111 8.023646e-15 6.619146524504504e-13 3.616512 53 0.005692803 468 0.02008145752991453 2.01773 15 22 0.002364066 Mouse Phenotype Single KO absent hypoglossal canal 152 1.420287e-12 8.556294775657895e-11 6.592746 24 0.002577873 328 0.004732091924390244 2.959338 8 8 0.001260835 Mouse Phenotype Single KO epidermis stratum spinosum hyperplasia 156 1.49854e-12 8.796237679487179e-11 2.582733 73 0.007841031 612 0.04093343586601307 1.660116 23 41 0.003624901 Mouse Phenotype Single KO increased fat cell size 159 2.17875e-12 1.2547681603773586e-10 2.062857 115 0.01235231 374 0.009484267262566844 1.655223 33 59 0.005200946 Mouse Phenotype Single KO absent hypoglossal nerve 175 1.637814e-11 8.569978741714287e-10 4.118538 34 0.003651987 559 0.033456778556350625 2.170181 11 15 0.001733649 Mouse Phenotype Single KO blood in lymph vessels 179 2.69117e-11 1.376706351396648e-9 2.512483 68 0.007303974 632 0.04196432868354431 1.775603 18 30 0.002836879 Mouse Phenotype Single KO abnormal white fat cell number 227 1.065951e-9 4.299961809251101e-8 2.699521 50 0.005370569 461 0.01951267314967462 2.1373 13 18 0.002048857 Mouse Phenotype Single KO abnormal urothelium morphology 316 3.873638e-8 0.0000011224969356329115 2.511532 46 0.004940924 571 0.03421728744658494 2.088945 12 17 0.001891253 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 342 1.020307e-7 0.000002731857075730994 2.155407 59 0.006337272 532 0.029068397340225566 1.836831 18 29 0.002836879 Mouse Phenotype Single KO fused dorsal root ganglion 382 3.953908e-7 0.00000947799360104712 2.585043 37 0.003974221 559 0.033456778556350625 2.170181 11 15 0.001733649 Mouse Phenotype Single KO thin hypoglossal nerve 431 0.000001294308 0.00002749878968909513 2.819464 29 0.00311493 361 0.008320930388088644 2.36747 12 15 0.001891253 Mouse Phenotype Single KO increased hemangiosarcoma incidence 457 0.00000249924 0.0000500777695404814 2.267248 41 0.004403867 464 0.019941577810344828 1.972892 16 24 0.002521671 Mouse Phenotype caudal vertebral fusion 10 1.243945e-49 1.1893358145e-46 4.60779 146 0.01568206 397 0.00132374308813602 2.437102 14 17 0.002206462 Mouse Phenotype abnormal fibroblast physiology 19 4.960834e-43 2.496343888105263e-40 2.026915 456 0.04897959 241 0.00005070630726970954 1.427033 122 253 0.01922774 Mouse Phenotype abnormal fibroblast proliferation 32 6.556428e-35 1.958937753375e-32 2.215472 300 0.03222342 836 0.022140165244019138 1.322998 76 170 0.01197794 Mouse Phenotype absent mandible 54 1.614534e-27 2.858622143333333e-25 2.689201 161 0.01729323 513 0.004405132903508772 1.972892 20 30 0.003152088 Mouse Phenotype abnormal adrenal gland physiology 61 4.349161e-26 6.816775134590164e-24 2.802011 142 0.01525242 684 0.011585004992105264 1.849586 20 32 0.003152088 Mouse Phenotype abnormal long bone epiphyseal plate proliferative zone 71 3.137729e-24 4.225327742112676e-22 2.068973 239 0.02567132 205 0.000011307337637560977 1.826752 50 81 0.007880221 Mouse Phenotype decreased fibroblast cell migration 93 1.194236e-21 1.227751655483871e-19 2.49001 143 0.01535983 296 0.0002163925625675676 1.995833 29 43 0.004570528 Mouse Phenotype abnormal fibroblast migration 103 4.081248e-20 3.788428361941747e-18 2.340853 149 0.0160043 245 0.00006330985906530611 1.972892 34 51 0.00535855 Mouse Phenotype abnormal stride length 108 1.899385e-19 1.6814833319444443e-17 2.00082 205 0.02201933 787 0.017642511179161373 1.498399 40 79 0.006304177 Mouse Phenotype short stride length 109 2.509225e-19 2.2009816720183485e-17 2.019133 199 0.02137487 737 0.014220748591587515 1.54219 37 71 0.005831363 Mouse Phenotype decreased cell migration 133 1.953233e-17 1.4041248656390978e-15 2.005052 181 0.01944146 271 0.00014020948952767526 1.810938 41 67 0.006461781 Mouse Phenotype abnormal epidermis stratum granulosum morphology 144 1.001296e-16 6.648188233333333e-15 2.138569 148 0.01589689 343 0.0005463743554810495 1.685699 45 79 0.007092199 Mouse Phenotype decreased organ/body region tumor incidence 171 2.251987e-15 1.2591372928070175e-13 2.236244 122 0.01310419 902 0.027180417831485584 1.598043 27 50 0.004255319 Mouse Phenotype absent segment of posterior cerebral artery 180 8.023646e-15 4.2618933003333333e-13 3.616512 53 0.005692803 729 0.013460576477366256 2.01773 15 22 0.002364066 Mouse Phenotype abnormal epidermis suprabasal layer morphology 204 6.10299e-14 2.860327813235294e-12 2.744806 74 0.007948443 1117 0.04991620917636526 1.753682 16 27 0.002521671 Mouse Phenotype absent hypoglossal canal 235 1.420287e-12 5.778452768936171e-11 6.592746 24 0.002577873 481 0.0033692407434511434 2.959338 8 8 0.001260835 Mouse Phenotype absent hypoglossal nerve 273 1.637814e-11 5.735948591208792e-10 4.118538 34 0.003651987 853 0.02289269923681125 2.170181 11 15 0.001733649 Mouse Phenotype abnormal cerebral artery morphology 277 2.196196e-11 7.580444027436824e-10 2.922655 53 0.005692803 996 0.03581777145783132 1.849586 15 24 0.002364066 Mouse Phenotype blood in lymph vessels 282 2.69117e-11 9.124211478723405e-10 2.512483 68 0.007303974 933 0.029680131344051446 1.775603 18 30 0.002836879 Mouse Phenotype increased squamous cell carcinoma incidence 355 1.368393e-9 3.685409992394366e-8 2.036428 88 0.009452202 1095 0.04598017618904109 1.536579 27 52 0.004255319