# 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 1 1.603858e-31 2.1105167422e-27 6.1168 69 0.03326905 9 1.2908367837555556e-11 3.420489 46 118 0.02149533 GO Biological Process translational initiation 2 6.372414e-30 4.1927297913e-26 5.02115 78 0.03760849 49 1.7800842621020408e-9 2.883861 47 143 0.02196262 GO Biological Process protein targeting to ER 3 7.255328e-30 3.1824287050666665e-26 6.376191 63 0.03037608 28 1.2439719660714286e-10 3.47497 40 101 0.01869159 GO Biological Process mRNA catabolic process 4 1.415148e-29 4.655483133e-26 3.955197 99 0.04773385 11 1.1842440853727274e-11 2.718797 66 213 0.03084112 GO Biological Process SRP-dependent cotranslational protein targeting to membrane 5 3.344389e-29 8.801762970200001e-26 6.717477 59 0.02844744 40 3.88785615775e-10 3.528794 37 92 0.01728972 GO Biological Process cotranslational protein targeting to membrane 6 1.37629e-28 3.018433351666667e-25 6.397918 60 0.0289296 32 1.795116237625e-10 3.491813 39 98 0.0182243 GO Biological Process protein localization to endoplasmic reticulum 7 2.06925e-28 3.8898943928571425e-25 5.235992 71 0.03423337 51 1.7860914535490197e-9 3.0427 43 124 0.02009346 GO Biological Process nuclear-transcribed mRNA catabolic process 8 2.110503e-28 3.4715136221250003e-25 4.064644 92 0.04435873 26 6.828351873461538e-11 2.703193 61 198 0.02850467 GO Biological Process RNA catabolic process 9 1.87917e-27 2.747555336666667e-24 3.559079 104 0.05014465 20 3.7743117524e-11 2.548552 70 241 0.03271028 GO Biological Process establishment of protein localization to endoplasmic reticulum 10 7.740194e-27 1.01853212846e-23 5.588789 63 0.03037608 39 3.972533394871795e-10 3.34259 40 105 0.01869159 GO Biological Process translation 11 9.290087e-27 1.111347771209091e-23 2.920632 133 0.06412729 66 1.627424570969697e-8 2.028467 86 372 0.04018692 GO Biological Process viral transcription 12 1.484383e-25 1.6277496580833333e-22 5.371895 62 0.02989392 57 4.107974311403508e-9 3.105947 40 113 0.01869159 GO Biological Process viral gene expression 13 2.536088e-25 2.5671063070769234e-22 5.138346 64 0.03085824 64 1.421111139625e-8 2.901737 42 127 0.01962617 GO Biological Process mRNA metabolic process 14 6.035453e-25 5.672894716214285e-22 2.175266 209 0.1007715 12 1.0952854173e-11 1.903983 143 659 0.06682243 GO Biological Process peptide biosynthetic process 15 1.978591e-23 1.7357519312666667e-20 2.653086 135 0.06509161 73 4.4548388469863014e-8 1.969741 88 392 0.0411215 GO Biological Process protein targeting to membrane 16 6.960167e-23 5.724302347062501e-20 4.34822 68 0.03278689 61 6.914206715245901e-9 2.881113 44 134 0.02056075 GO Biological Process multi-organism metabolic process 17 7.150799e-22 5.535139061235295e-19 4.160213 68 0.03278689 65 1.495085900553846e-8 2.745699 46 147 0.02149533 GO Biological Process nucleobase-containing compound catabolic process 18 3.489634e-21 2.5511163225555557e-18 2.573067 128 0.06171649 78 1.4554741388974357e-7 1.985246 81 358 0.03785047 GO Biological Process posttranscriptional regulation of gene expression 19 4.656031e-21 3.2246690488947367e-18 2.162269 178 0.08582449 59 5.911216839491525e-9 1.843075 117 557 0.0546729 GO Biological Process ncRNA metabolic process 21 1.456805e-20 9.128617616666668e-18 2.338167 148 0.07135969 165 0.00028408047957575756 1.565145 99 555 0.04626168 GO Cellular Component intracellular ribonucleoprotein complex 1 1.360018e-34 2.350111104e-31 2.367889 245 0.1181292 8 1.452629808e-9 1.703119 158 814 0.07383178 GO Cellular Component ribonucleoprotein complex 2 1.645521e-34 1.421730144e-31 2.364874 245 0.1181292 7 1.14205248e-9 1.707605 159 817 0.07429907 GO Cellular Component ribosomal subunit 3 4.262696e-29 2.455312896e-26 4.579425 83 0.04001929 10 5.9773196159999996e-9 2.561147 54 185 0.02523364 GO Cellular Component ribosome 4 1.705543e-24 7.36794576e-22 3.567457 92 0.04435873 15 5.382232704e-8 2.267933 61 236 0.02850467 GO Cellular Component cytosolic ribosome 5 1.226918e-22 4.240228608e-20 4.555421 64 0.03085824 6 8.185559039999999e-10 3.21202 41 112 0.01915888 GO Cellular Component cytosolic large ribosomal subunit 8 7.586938e-19 1.6387786080000002e-16 5.921915 41 0.01976856 16 3.57642648e-7 3.596024 25 61 0.01168224 GO Cellular Component large ribosomal subunit 9 9.339841e-19 1.793249472e-16 4.665207 51 0.02459016 22 0.000008004724363636364 2.594141 34 115 0.01588785 GO Cellular Component cytosolic part 12 3.410182e-16 4.91066208e-14 2.745381 86 0.04146577 25 0.000018986635008 2.010777 55 240 0.02570093 GO Cellular Component small ribosomal subunit 16 3.227817e-12 3.48604236e-10 4.483951 33 0.01591128 43 0.001367062191627907 2.559171 21 72 0.009813084 GO Cellular Component chromosome, telomeric region 17 9.459695e-12 9.615501741176472e-10 3.010965 52 0.02507232 49 0.01892984855510204 1.786384 34 167 0.01588785 GO Cellular Component nuclear chromosome, telomeric region 27 2.778718e-10 1.77837952e-8 3.135006 42 0.02025072 50 0.028373770367999998 1.861215 28 132 0.01308411 GO Cellular Component cytoplasmic ribonucleoprotein granule 42 1.497034e-8 6.1592256e-7 2.21707 62 0.02989392 48 0.014514948 1.764397 37 184 0.01728972 GO Cellular Component cytosolic small ribosomal subunit 43 1.710031e-8 6.871938530232558e-7 4.398915 22 0.01060752 44 0.0024248972945454545 2.991238 15 44 0.007009346 GO Cellular Component ribonucleoprotein granule 44 2.139236e-8 8.401363199999999e-7 2.163272 64 0.03085824 47 0.011779889974468084 1.75486 39 195 0.0182243 GO Cellular Component protein-DNA complex 46 3.31287e-8 0.0000012444868173913045 2.253117 57 0.02748312 36 0.000341453088 1.954671 45 202 0.02102804 GO Cellular Component nucleosome 55 6.952186e-7 0.000021842504378181817 3.30253 24 0.01157184 28 0.00007764934628571428 2.506943 30 105 0.01401869 GO Cellular Component DNA packaging complex 67 0.000007438844 0.00019185555868656717 2.793077 25 0.012054 31 0.00009928101367741936 2.428601 31 112 0.01448598 GO Cellular Component exon-exon junction complex 100 0.0006103757 0.010547292096000001 3.935627 9 0.004339441 53 0.04738671577358491 3.34259 8 21 0.003738318 GO Molecular Function structural constituent of ribosome 2 1.064671e-26 2.247520481e-23 4.569552 76 0.03664417 10 2.9362962944e-8 2.653955 49 162 0.0228972 GO Molecular Function mRNA binding 10 8.942537e-15 3.7755391214e-12 2.463149 94 0.04532305 14 0.0000016452292615714284 2.318597 51 193 0.02383178 GO Molecular Function mRNA 3'-UTR binding 20 3.33629e-11 7.04290819e-9 3.202742 45 0.0216972 24 0.000346493207 2.924766 22 66 0.01028037 GO Molecular Function G-rich strand telomeric DNA binding 24 1.092778e-10 1.9223786316666667e-8 9.764886 15 0.007232401 45 0.028514984564444443 5.264579 6 10 0.002803738 GO Molecular Function sequence-specific single stranded DNA binding 25 1.726268e-10 2.9153213983999996e-8 8.570257 16 0.007714561 47 0.03681991827234042 4.38715 7 14 0.003271028 GO Molecular Function single-stranded RNA binding 37 1.455298e-7 0.000016606130151351353 2.533382 41 0.01976856 32 0.0031200461256249996 2.491468 23 81 0.01074766 GO Molecular Function chromatin DNA binding 39 2.908604e-7 0.000031487502789743594 2.465238 41 0.01976856 44 0.02036390543181818 2.109207 25 104 0.01168224 GO Molecular Function enhancer sequence-specific DNA binding 49 0.00000390082 0.00033610738857142855 2.049478 49 0.02362584 43 0.019817272693023257 2.193575 23 92 0.01074766 GO Molecular Function single-stranded DNA binding 65 0.0000234613 0.0015239016707692308 2.114366 38 0.01832208 46 0.0310620066173913 2.084982 24 101 0.01121495 GO Molecular Function double-stranded RNA binding 70 0.00004685245 0.0028258720557142857 2.393021 27 0.01301832 40 0.010174452141 2.525935 19 66 0.008878505 GO Molecular Function pre-mRNA binding 72 0.00004882778 0.002863206766111111 2.745214 21 0.01012536 49 0.048221633314285715 2.845719 12 37 0.005607477 Human Phenotype Somatic mosaicism 28 7.300853e-10 1.73994971675e-7 12.11242 12 0.005785921 13 0.025504216266153845 6.580724 6 8 0.002803738 Human Phenotype Cloverleaf skull 71 6.046481e-7 0.00005682840522957746 8.272766 10 0.004821601 26 0.0431935077076923 8.774299 4 4 0.001869159 Mouse Phenotype Single KO embryonic lethality between implantation and placentation, complete penetrance 32 6.156338e-11 1.7616745958125e-8 3.633765 37 0.01783992 130 0.027877070686923074 2.580676 15 51 0.007009346 Mouse Phenotype Single KO single kidney 57 9.996971e-9 0.0000016060046218771931 2.893835 39 0.01880424 70 0.0017661249795714285 3.50972 14 35 0.006542056 Mouse Phenotype Single KO abnormal optic vesicle formation 60 1.344683e-8 0.0000020522103718333335 3.270154 32 0.01542912 88 0.009753862625113636 3.574714 11 27 0.005140187 Mouse Phenotype Single KO decreased forebrain size 96 1.055534e-7 0.000010068255039583334 3.045084 31 0.01494696 32 0.0000675302423625 3.925344 17 38 0.007943925 Mouse Phenotype Single KO abnormal forebrain size 115 3.710345e-7 0.000029544025360869567 2.868788 31 0.01494696 38 0.00009011919383684211 3.824694 17 39 0.007943925 Mouse Phenotype Single KO microcephaly 147 0.000002097004 0.00013062765733333335 2.015025 54 0.02603664 62 0.0011289908994354838 2.718797 22 71 0.01028037 Mouse Phenotype Single KO abnormal neural fold formation 194 0.00001216528 0.0005742137575257733 2.853048 23 0.01108968 149 0.041947178387248325 3.133678 10 28 0.004672897 Mouse Phenotype Single KO abnormal neural fold morphology 203 0.00001877929 0.0008471032439901478 2.390395 30 0.0144648 98 0.013542539584693878 2.800308 15 47 0.007009346 Mouse Phenotype Single KO holoprosencephaly 208 0.00002153062 0.0009478648429807693 2.559903 26 0.01253616 103 0.016169199452427185 3.001734 13 38 0.006074766 Mouse Phenotype Single KO abnormal inner cell mass morphology 278 0.0001125188 0.0037062397539568345 2.07171 33 0.01591128 92 0.010947034247826086 2.325718 22 83 0.01028037 Mouse Phenotype Single KO increased susceptibility to otitis media 303 0.0001895226 0.005727585637623763 2.423067 22 0.01060752 127 0.02466943387559055 3.37473 10 26 0.004672897 Mouse Phenotype Single KO failure of primitive streak formation 345 0.000457102 0.012132414533333332 2.220782 23 0.01108968 49 0.00028230974936734694 3.871014 15 34 0.007009346 Mouse Phenotype absent maxilla 11 1.540417e-12 1.338902448818182e-9 4.612872 33 0.01591128 192 0.011318899403125 4.724623 7 13 0.003271028 Mouse Phenotype embryonic lethality between implantation and placentation, complete penetrance 26 2.206196e-10 8.112861521538461e-8 3.466419 37 0.01783992 267 0.03408562746629213 2.392991 15 55 0.007009346 Mouse Phenotype thin external granule cell layer 29 2.621921e-10 8.644202303793104e-8 3.595521 35 0.0168756 260 0.030940186621153845 3.290362 9 24 0.004205607 Mouse Phenotype abnormal midface morphology 44 5.214317e-9 0.0000011330473826590909 3.67957 29 0.01398264 279 0.03808708308602151 3.838756 7 16 0.003271028 Mouse Phenotype impaired somite development 50 9.928664e-9 0.0000018985591300799998 2.072395 74 0.03567985 66 0.00015806419036363636 2.367668 34 126 0.01588785 Mouse Phenotype incomplete somite formation 86 2.901378e-7 0.000032255901230232554 2.349862 45 0.0216972 100 0.0006931726912199999 2.976994 19 56 0.008878505 Mouse Phenotype single kidney 93 4.434134e-7 0.000045585758251612904 2.394105 42 0.02025072 103 0.0007620923651359223 3.173683 17 47 0.007943925 Mouse Phenotype abnormal neural fold formation 114 0.000001214974 0.00010189795099999998 3.024963 26 0.01253616 193 0.011364060937305699 3.096811 12 34 0.005607477 Mouse Phenotype abnormal neural fold morphology 124 0.000001769868 0.00013646538667741933 2.378723 38 0.01832208 124 0.0017187909936290321 2.778528 19 60 0.008878505 Mouse Phenotype abnormal optic vesicle formation 142 0.000002883199 0.00019412863126056336 2.39229 36 0.01735776 223 0.02399486011748879 2.845719 12 37 0.005607477 Mouse Phenotype increased metanephric mesenchyme apoptosis 158 0.000005626073 0.000340448632613924 2.709879 27 0.01301832 272 0.03510702535477941 3.50972 8 20 0.003738318 Mouse Phenotype abnormal maxillary-premaxillary suture morphology 213 0.0000310552 0.0013939848225352112 5.902876 9 0.004339441 301 0.04696344141528239 8.774299 3 3 0.001401869 Mouse Phenotype increased fibroblast apoptosis 222 0.00003577006 0.001540529475945946 2.894702 20 0.009643202 237 0.027129829669620253 2.559171 14 48 0.006542056 Mouse Phenotype decreased forebrain size 223 0.0000378961 0.0016247740452914798 2.089553 37 0.01783992 109 0.0008775805067889909 2.830419 20 62 0.009345794 Mouse Phenotype abnormal lateral plate mesoderm morphology 227 0.00004073771 0.001715829274493392 3.197871 17 0.008196721 299 0.04647515763210702 3.34259 8 21 0.003738318 Mouse Phenotype premature bone ossification 268 0.00008989201 0.003206930998544776 2.298793 27 0.01301832 312 0.04988577391346154 3.037257 9 26 0.004205607 Mouse Phenotype proboscis 310 0.0001857661 0.005729386071290322 2.922229 16 0.007714561 279 0.03808708308602151 3.838756 7 16 0.003271028 Mouse Phenotype abnormal inner cell mass morphology 316 0.0002064575 0.006246646068037975 2.002102 33 0.01591128 173 0.008875227603468209 2.270995 22 85 0.01028037 Mouse Phenotype increased susceptibility to otitis media 328 0.0002351546 0.006854613203048781 2.38469 22 0.01060752 241 0.027078342855186722 3.133678 10 28 0.004672897 Mouse Phenotype absent mandible 341 0.0002893985 0.00811419078739003 2.099405 28 0.01350048 196 0.013852362166836734 3.217243 11 30 0.005140187