# 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 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay 64 4.297074e-16 8.8351869946875e-14 2.796328 84 0.01520913 616 0.024319946839285716 1.468504 50 118 0.009228498 GO Biological Process RNA catabolic process 66 1.185716e-15 2.3640661884848485e-13 2.017612 157 0.02842658 654 0.03373893153058104 1.308614 91 241 0.01679587 GO Biological Process mRNA catabolic process 72 2.092169e-15 3.823729426527778e-13 2.100364 140 0.02534854 512 0.008388273943164062 1.383014 85 213 0.01568845 GO Biological Process nuclear-transcribed mRNA catabolic process 76 6.975533e-15 1.207776825618421e-12 2.140218 129 0.02335687 549 0.012512476038797814 1.382767 79 198 0.01458103 GO Biological Process cytoskeleton-dependent intracellular transport 92 9.510347e-14 1.3602897410108697e-11 2.054356 130 0.02353793 268 0.00021604249797014925 1.604908 69 149 0.01273533 GO Biological Process axonal transport 97 8.917475e-13 1.209742819845361e-10 3.277252 51 0.009234112 333 0.0008561506209009009 2.13272 24 39 0.004429679 GO Biological Process transport along microtubule 107 4.407173e-12 5.419999019345794e-10 2.064208 111 0.02009777 346 0.0009501136482947976 1.597457 59 128 0.01088963 GO Biological Process anterograde axonal transport 118 2.643394e-11 2.947832342881356e-9 3.76234 37 0.006699258 369 0.0014163277762601627 2.235916 20 31 0.003691399 GO Biological Process mitochondrial membrane organization 125 1.202124e-10 1.26549997728e-8 2.013175 102 0.01846822 567 0.0149721988010582 1.481294 53 124 0.009782207 GO Biological Process gene silencing by miRNA 127 1.343504e-10 1.3920605618897639e-8 2.873002 50 0.009053051 592 0.020211054805067567 1.8116 23 44 0.004245109 GO Biological Process axo-dendritic transport 130 1.618725e-10 1.638523251923077e-8 2.788706 52 0.009415173 488 0.006763000637090163 1.883516 25 46 0.004614249 GO Biological Process regulation of mitochondrial membrane permeability 182 5.985187e-9 4.3274217435714286e-7 2.205527 67 0.01213109 468 0.0049122350177350435 1.709098 36 73 0.006644518 GO Biological Process regulation of membrane permeability 184 7.223933e-9 5.166289910163043e-7 2.113301 73 0.01321745 472 0.00509422526970339 1.668656 39 81 0.007198228 GO Biological Process organelle transport along microtubule 237 3.037464e-7 0.00001686497416708861 2.052526 61 0.01104472 481 0.0063190366085239084 1.732835 33 66 0.006090808 GO Biological Process cytoplasmic microtubule organization 287 0.00000127892 0.00005863870480836237 2.420452 38 0.006880319 690 0.03996081256666667 1.775099 21 41 0.003875969 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 301 0.000001677495 0.0000733360687873754 2.77977 29 0.00525077 345 0.0009457579266956522 2.45485 17 24 0.003137689 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 309 0.000001933672 0.0000823468927119741 2.652769 31 0.005612892 262 0.00019296016068702287 2.532605 19 26 0.003506829 GO Biological Process peroxisome proliferator activated receptor signaling pathway 321 0.000002701277 0.00011073552661370717 4.192331 16 0.002896976 602 0.021715381816112957 3.032461 7 8 0.00129199 GO Biological Process mitochondrial calcium ion transport 339 0.000004014012 0.00015581234191150444 3.163366 22 0.003983342 708 0.04493185156779661 2.021641 14 24 0.002583979 GO Biological Process positive regulation of sodium ion transmembrane transport 463 0.00002961432 0.0008416735137796976 2.299405 31 0.005612892 525 0.010101244423238094 2.371248 13 19 0.002399409 GO Cellular Component axon cytoplasm 28 3.294192e-13 2.032987062857143e-11 3.321214 52 0.009415173 40 0.0004262381568 2.166044 25 40 0.004614249 GO Cellular Component cytoplasmic microtubule 42 6.111552e-10 2.5144671085714287e-8 2.570305 56 0.01013942 51 0.0017987616 1.940775 28 50 0.005167959 GO Molecular Function cyclin-dependent protein serine/threonine kinase inhibitor activity 53 0.000003030042 0.00024137428913207547 4.407222 15 0.002715915 72 0.008392427097222223 2.888058 10 12 0.0018457 GO Molecular Function cyclin-dependent protein serine/threonine kinase regulator activity 74 0.00001076123 0.0006139717981081081 2.515563 29 0.00525077 92 0.035675739380434786 2.0316 17 29 0.003137689 Human Phenotype Poor speech 9 1.082753e-9 8.028011965555555e-7 2.323295 66 0.01195003 78 0.0027541293242307695 1.980383 28 49 0.005167959 Human Phenotype Long eyelashes 44 2.368199e-7 0.00003591589074318182 2.112713 58 0.01050154 163 0.01914927884355828 1.906118 22 40 0.004060539 Human Phenotype Foot acroosteolysis 291 0.0004743331 0.010877061086941581 2.913426 14 0.002534854 198 0.03348089113686869 3.032461 7 8 0.00129199 Mouse Phenotype Single KO abnormal Mullerian duct morphology 18 2.240752e-9 0.000001139920336888889 2.549962 53 0.009596234 374 0.010552066501604278 1.980383 20 35 0.003691399 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 23 5.327994e-9 0.0000021212365677391306 2.591769 49 0.00887199 357 0.009053774703641456 1.967002 21 37 0.003875969 Mouse Phenotype Single KO large lymphoid organs 24 6.726992e-9 0.0000025666277393333334 2.736256 44 0.007966685 620 0.04929645842096774 1.841137 17 32 0.003137689 Mouse Phenotype Single KO abnormal liver sinusoid morphology 32 2.970003e-8 0.0000084988492096875 2.139775 65 0.01176897 492 0.02519963592886179 1.627815 31 66 0.005721669 Mouse Phenotype Single KO thin hypoglossal nerve 36 3.281189e-8 0.000008346068798055556 3.933276 24 0.004345464 578 0.0418808702750865 2.310447 10 15 0.0018457 Mouse Phenotype Single KO abnormal interventricular septum thickness 37 3.294963e-8 0.000008154588159729731 2.414843 50 0.009053051 520 0.029675160338461536 1.773133 22 43 0.004060539 Mouse Phenotype Single KO embryo tumor 58 3.41233e-7 0.00005387363070689656 4.931699 16 0.002896976 622 0.04930072856913183 2.695521 7 9 0.00129199 Mouse Phenotype Single KO rectal prolapse 82 0.000001645597 0.00018376502108536586 2.278968 42 0.007604563 618 0.04842900225566343 1.925372 15 27 0.002768549 Mouse Phenotype Single KO short scala media 150 0.00001861439 0.0011363464615333331 3.273312 18 0.003259098 547 0.0334394723345521 3.46567 5 5 0.0009228498 Mouse Phenotype Single KO decreased kidney apoptosis 171 0.00003601579 0.0019286350235672516 2.810988 21 0.003802281 457 0.019905729050109407 3.032461 7 8 0.00129199 Mouse Phenotype Single KO short premaxilla 200 0.0000768306 0.003517689021 2.21288 30 0.005431831 596 0.045955541442953024 2.39931 9 13 0.00166113 Mouse Phenotype Single KO rickets 224 0.0001037436 0.004240982791071429 3.394435 14 0.002534854 622 0.04930072856913183 2.695521 7 9 0.00129199 Mouse Phenotype Single KO decreased palatine bone horizontal plate size 248 0.0001375104 0.005077349729032258 2.170632 29 0.00525077 615 0.04861305383577235 2.520487 8 11 0.00147656 Mouse Phenotype Single KO abnormal sublingual gland morphology 276 0.0002071136 0.006871518968115942 3.345109 13 0.002353793 457 0.019905729050109407 3.032461 7 8 0.00129199 Mouse Phenotype Single KO bile duct hyperplasia 290 0.000253841 0.008015248403448276 2.84392 16 0.002896976 296 0.005137513194932433 3.46567 7 7 0.00129199 Mouse Phenotype Single KO increased sternebra number 322 0.0003471765 0.009872966492236025 3.883455 10 0.00181061 599 0.04640513833388982 2.970574 6 7 0.00110742 Mouse Phenotype Single KO atrium hypoplasia 326 0.0003622379 0.010174884816871167 2.218792 24 0.004345464 457 0.019905729050109407 3.032461 7 8 0.00129199 Mouse Phenotype Single KO abnormal thymus development 388 0.0006889545 0.016259681331185567 2.301801 20 0.00362122 470 0.021242096872340428 2.382648 11 16 0.002030269 Mouse Phenotype Single KO absent heart tube 462 0.001373791 0.027229013391774894 3.232769 10 0.00181061 599 0.04640513833388982 2.970574 6 7 0.00110742 Mouse Phenotype Single KO enlarged allantois 463 0.001374668 0.027187548328293735 2.008748 24 0.004345464 470 0.021242096872340428 2.382648 11 16 0.002030269 Mouse Phenotype enlarged liver sinusoidal spaces 8 2.356481e-14 2.816289355125e-11 2.975645 67 0.01213109 352 0.0018747007801704545 2.028685 24 41 0.004429679 Mouse Phenotype abnormal liver sinusoid morphology 27 1.475471e-10 5.224806752222222e-8 2.142527 87 0.01575231 405 0.003814968840740741 1.688403 38 78 0.007013658 Mouse Phenotype thin hypoglossal nerve 52 3.281189e-8 0.000006032970774807693 3.933276 24 0.004345464 765 0.033039404035294116 2.310447 10 15 0.0018457 Mouse Phenotype embryo tumor 82 3.41233e-7 0.00003978693552439025 4.931699 16 0.002896976 817 0.0391896847123623 2.695521 7 9 0.00129199 Mouse Phenotype short scala media 204 0.00001861439 0.0008724126607352941 3.273312 18 0.003259098 708 0.026975132614406774 3.46567 5 5 0.0009228498 Mouse Phenotype short premaxilla 238 0.00004418276 0.001774921715798319 2.103683 36 0.006518197 695 0.026747839843165467 2.188844 12 19 0.002214839 Mouse Phenotype ectopic hippocampus pyramidal cells 241 0.00004736614 0.0018791189400000003 2.613153 23 0.004164403 817 0.0391896847123623 2.695521 7 9 0.00129199 Mouse Phenotype bile duct hyperplasia 325 0.0002270218 0.006678632091692307 2.766768 17 0.003078037 810 0.038538348959259255 2.520487 8 11 0.00147656 Mouse Phenotype decreased liver function 349 0.0003048913 0.008352623837535817 3.048753 14 0.002534854 810 0.038538348959259255 2.520487 8 11 0.00147656 Mouse Phenotype increased sternebra number 365 0.0003471765 0.009094121963013698 3.883455 10 0.00181061 790 0.03673803357721519 2.970574 6 7 0.00110742 Mouse Phenotype atrium hypoplasia 370 0.0003622379 0.00936042314027027 2.218792 24 0.004345464 590 0.016098758323220337 3.032461 7 8 0.00129199 Mouse Phenotype abnormal hepatic glucose production 448 0.0007602461 0.016224805718973216 4.236978 8 0.001448488 708 0.026975132614406774 3.46567 5 5 0.0009228498 Mouse Phenotype long tail 524 0.001337303 0.024400675540076334 2.725659 13 0.002353793 407 0.003901219228746929 3.46567 7 7 0.00129199