# 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 signal release 16 1.77741e-13 1.461808636875e-10 2.094113 120 0.0405954 94 2.917193511914893e-7 2.088407 62 167 0.018574 GO Biological Process neurotransmitter secretion 28 1.085053e-11 5.0993615810714285e-9 2.345934 80 0.0270636 134 0.00004372351732164179 2.193838 39 100 0.01168364 GO Biological Process regulation of cyclic nucleotide biosynthetic process 30 1.603025e-11 7.0314019916666675e-9 2.024798 109 0.03687415 103 5.340802447669904e-7 2.142943 56 147 0.01677651 GO Biological Process neurotransmitter transport 37 3.884131e-11 1.3813859413243241e-8 2.091638 97 0.03281461 121 0.00001194304314876033 2.049189 51 140 0.01527861 GO Biological Process presynaptic process involved in chemical synaptic transmission 39 5.62097e-11 1.896572928974359e-8 2.251167 81 0.02740189 139 0.00006216422362805756 2.142943 40 105 0.01198322 GO Biological Process regulation of cAMP biosynthetic process 41 7.381136e-11 2.368984600585366e-8 2.048481 99 0.0334912 96 3.3940940163541663e-7 2.258948 51 127 0.01527861 GO Biological Process regulation of postsynaptic membrane potential 49 2.656016e-10 7.132758070204081e-8 2.088063 89 0.03010825 59 8.530582699661016e-10 2.700108 48 100 0.01437987 GO Biological Process regulation of adenylate cyclase activity 53 1.011669e-9 2.511802334150943e-7 2.271201 69 0.02334235 179 0.00041467750860893856 2.207367 31 79 0.009286998 GO Biological Process regulation of cyclase activity 55 1.706172e-9 4.082094063272727e-7 2.144992 76 0.02571042 180 0.0004289740424888889 2.094499 35 94 0.01048532 GO Biological Process adenylate cyclase-activating G-protein coupled receptor signaling pathway 56 2.732623e-9 6.421176081607143e-7 2.229643 68 0.02300406 140 0.00006806652537857144 2.47169 29 66 0.008687837 GO Biological Process regulation of lyase activity 59 7.454442e-9 0.0000016625932589491528 2.093118 74 0.02503383 226 0.0012291181417699115 2.013238 34 95 0.01018574 GO Biological Process calcium ion regulated exocytosis 63 1.767788e-8 0.00000369243210984127 2.321569 56 0.01894452 348 0.016118459100000003 1.953203 25 72 0.007489515 GO Biological Process synaptic vesicle exocytosis 64 1.822591e-8 0.0000037474179639062502 2.456977 50 0.01691475 273 0.003892860229010989 2.177506 24 62 0.007189934 GO Biological Process peptide hormone secretion 67 3.199802e-8 0.000006284506644477612 2.43717 49 0.01657645 184 0.00045340757674456526 2.424666 25 58 0.007489515 GO Biological Process peptide secretion 68 3.543062e-8 0.000006856346008529412 2.428822 49 0.01657645 197 0.0006114262553045685 2.38357 25 59 0.007489515 GO Biological Process positive regulation of cAMP metabolic process 71 5.340137e-8 0.000009897304617323945 2.127517 63 0.02131258 232 0.0014928726684482758 2.017744 33 92 0.009886159 GO Biological Process positive regulation of cyclic nucleotide biosynthetic process 74 7.531796e-8 0.000013393365346486488 2.027933 69 0.02334235 241 0.0019298345100414937 1.949335 35 101 0.01048532 GO Biological Process transmission of nerve impulse 80 1.17368e-7 0.000019305568899999997 2.38052 47 0.01589986 65 7.586175646769231e-9 3.290226 31 53 0.009286998 GO Biological Process positive regulation of cyclase activity 83 1.727608e-7 0.000027389871893975904 2.278027 50 0.01691475 342 0.015031156324561402 2.062582 22 60 0.006590773 GO Biological Process positive regulation of cAMP biosynthetic process 84 1.977434e-7 0.00003097744524523809 2.089244 60 0.0202977 216 0.0011125294826388888 2.100988 31 83 0.009286998 GO Cellular Component axon part 18 1.593052e-14 1.5293299199999998e-12 2.063166 135 0.04566982 28 8.430399771428572e-10 2.182464 71 183 0.02127022 GO Cellular Component transport vesicle membrane 24 2.759097e-10 1.98654984e-8 2.048308 93 0.03146143 49 0.000177669504 1.779732 56 177 0.01677651 GO Cellular Component terminal bouton 39 1.111782e-7 0.000004926049476923077 2.335821 49 0.01657645 80 0.0368597736 1.905318 21 62 0.006291192 GO Cellular Component voltage-gated calcium channel complex 40 1.636451e-7 0.00000706946832 2.597185 39 0.0131935 51 0.0002913422230588235 2.678678 20 42 0.005991612 GO Cellular Component main axon 41 2.738827e-7 0.000011543153795121952 2.146908 55 0.01860622 38 5.234466694736841e-7 2.767968 31 63 0.009286998 GO Cellular Component synaptic vesicle membrane 43 3.488481e-7 0.000014018825972093022 2.183484 52 0.01759134 69 0.0134705088 1.875075 27 81 0.008088676 GO Cellular Component node of Ranvier 51 0.000008809824 0.00029849756611764706 3.325693 19 0.006427605 64 0.0084111237 3.375135 9 15 0.002696225 GO Cellular Component axon initial segment 55 0.00001100713 0.00034582401163636364 3.73543 16 0.00541272 61 0.007009643331147541 3.75015 8 12 0.002396645 GO Cellular Component neurofilament 59 0.00003256845 0.000953869179661017 3.409251 16 0.00541272 52 0.00125347392 4.922072 7 8 0.002097064 GO Cellular Component neuronal cell body membrane 60 0.00003630021 0.0010454460480000002 2.593625 24 0.00811908 40 0.00000431004672 4.018018 15 21 0.004493709 GO Cellular Component presynaptic active zone 71 0.0002433169 0.005921853566197182 2.093162 29 0.009810555 57 0.004365064421052632 2.636824 15 32 0.004493709 GO Cellular Component sodium channel complex 72 0.0002711092 0.0065066208000000006 2.824608 16 0.00541272 67 0.008640838208955223 2.946546 11 21 0.003295386 GO Cellular Component postsynaptic density membrane 87 0.0006281009 0.01247538339310345 2.710241 15 0.005074425 70 0.01563453668571429 4.218919 6 8 0.001797484 GO Cellular Component postsynaptic specialization membrane 91 0.0007788883 0.014790318487912088 2.652069 15 0.005074425 78 0.03573663507692308 3.75015 6 9 0.001797484 GO Molecular Function voltage-gated ion channel activity 10 6.13854e-15 2.591691588e-12 2.017113 147 0.04972936 7 7.306056402857143e-15 2.490334 85 192 0.02546435 GO Molecular Function potassium channel activity 15 7.81943e-13 2.2009088973333333e-10 2.046304 120 0.0405954 10 1.1713550576000001e-11 2.619379 61 131 0.01827442 GO Molecular Function voltage-gated cation channel activity 17 1.127273e-12 2.7996156505882353e-10 2.034519 120 0.0405954 8 3.4442389925e-14 2.751022 67 137 0.0200719 GO Molecular Function sodium channel activity 28 1.018462e-7 0.000015356952014285713 2.687585 38 0.01285521 39 0.0033255957856410255 2.5001 20 45 0.005991612 GO Molecular Function voltage-gated calcium channel activity 32 3.023427e-7 0.00003989033998125 2.532918 39 0.0131935 25 0.00011241797806400001 2.953243 21 40 0.006291192 GO Molecular Function excitatory extracellular ligand-gated ion channel activity 44 0.00001245978 0.0011955725263636365 2.048046 44 0.01488498 33 0.0008627353783636364 2.578228 22 48 0.006590773 GO Molecular Function outward rectifier potassium channel activity 51 0.00003270934 0.002707820264313725 3.2587 17 0.005751015 51 0.0204847218 3.75015 8 12 0.002396645 GO Molecular Function acid-thiol ligase activity 55 0.00006071031 0.004660344160363637 2.704752 21 0.007104195 47 0.015933729187234045 2.812612 13 26 0.003894548 GO Molecular Function voltage-gated sodium channel activity 81 0.0005159273 0.026891914328395064 2.65923 16 0.00541272 32 0.000656548443 3.42405 14 23 0.004194128 Mouse Phenotype Single KO abnormal neurotransmitter secretion 12 8.61473e-11 6.573756884166666e-8 2.602671 60 0.0202977 69 5.893101480724638e-7 2.966028 29 55 0.008687837 Mouse Phenotype Single KO abnormal response to tactile stimuli 17 9.442745e-10 5.086306821470589e-7 2.162625 77 0.02604871 115 0.000024452160053043477 2.301228 36 88 0.0107849 Mouse Phenotype Single KO abnormal inhibitory postsynaptic currents 19 2.263999e-9 0.0000010911283601578948 2.256184 67 0.02266576 38 2.1415892784473682e-10 3.190426 38 67 0.01138406 Mouse Phenotype Single KO abnormal miniature excitatory postsynaptic currents 22 5.407624e-9 0.000002250800589454545 2.031543 81 0.02740189 63 2.179412511746032e-7 2.638994 38 81 0.01138406 Mouse Phenotype Single KO absence seizures 31 3.290891e-8 0.000009720867382903226 2.812765 38 0.01285521 120 0.0000442244411675 3.266259 18 31 0.005392451 Mouse Phenotype Single KO decreased neurotransmitter release 41 8.422973e-8 0.000018811991161219512 3.608395 25 0.008457375 480 0.04766128837708334 2.55692 10 22 0.002995806 Mouse Phenotype Single KO abnormal hippocampus layer morphology 42 1.088172e-7 0.000023724740485714285 2.159754 58 0.01962111 154 0.0005013940323636364 2.234678 29 73 0.008687837 Mouse Phenotype Single KO abnormal paired-pulse facilitation 44 2.000958e-7 0.00004164266455909091 2.225166 52 0.01759134 282 0.008211523514184398 2.20597 20 51 0.005991612 Mouse Phenotype Single KO abnormal conditioned place preference behavior 47 3.012525e-7 0.000058692960478723404 2.740479 34 0.01150203 217 0.0021863645642857146 2.727382 16 33 0.004793289 Mouse Phenotype Single KO abnormal insulin-like growth factor I level 50 3.208267e-7 0.000058756201838 2.345282 45 0.01522327 355 0.020618086919436618 2.045536 20 55 0.005991612 Mouse Phenotype Single KO impaired conditioned place preference behavior 51 3.735347e-7 0.0000670677891745098 2.932631 30 0.01014885 185 0.000939198346918919 3.150126 14 25 0.004194128 Mouse Phenotype Single KO abnormal hippocampus pyramidal cell layer 59 6.29895e-7 0.00009776183923728813 2.217759 48 0.01623816 173 0.0006911121363005779 2.343844 25 60 0.007489515 Mouse Phenotype Single KO impaired behavioral response to addictive substance 64 0.000001090576 0.00015603756924999999 2.50387 36 0.01217862 157 0.0005015144254394904 2.678678 20 42 0.005991612 Mouse Phenotype Single KO nonconvulsive seizures 66 0.000001115782 0.0001548062996060606 2.367745 40 0.0135318 140 0.00013375544870714286 2.968869 19 36 0.005692031 Mouse Phenotype Single KO decreased circulating insulin-like growth factor I level 69 0.000001545151 0.00020505721314492754 2.365221 39 0.0131935 319 0.015055365293416927 2.201175 18 46 0.005392451 Mouse Phenotype Single KO abnormal circulating insulin-like growth factor I level 81 0.000003406309 0.0003850811297901234 2.232021 41 0.01387009 403 0.02963157483622829 2.01659 19 53 0.005692031 Mouse Phenotype Single KO hyporesponsive to tactile stimuli 85 0.000004005619 0.0004315229786235294 2.359606 36 0.01217862 263 0.005596013305703421 2.452021 17 39 0.00509287 Mouse Phenotype Single KO abnormal Purkinje cell innervation 86 0.00000430662 0.00045855487604651166 3.502404 19 0.006427605 493 0.05019341754766734 4.018018 5 7 0.001497903 Mouse Phenotype Single KO increased chemical nociceptive threshold 88 0.000006111627 0.0006359564595340909 2.380142 34 0.01150203 222 0.002464156537072072 2.916783 14 27 0.004194128 Mouse Phenotype Single KO analgesia 104 0.00001799521 0.0015844436343269233 2.713505 24 0.00811908 367 0.022611434992098094 2.690325 11 23 0.003295386 Mouse Phenotype abnormal neurotransmitter secretion 6 6.616082e-19 1.0542726667e-15 2.736879 103 0.03484438 43 1.5349536241395347e-11 3.008841 46 86 0.01378071 Mouse Phenotype abnormal excitatory postsynaptic currents 7 4.182201e-16 5.712289108714286e-13 2.069687 150 0.05074425 15 1.7139934586e-15 2.792944 71 143 0.02127022 Mouse Phenotype abnormal response to tactile stimuli 8 5.012397e-14 5.990440964625e-11 2.373566 96 0.03247632 92 9.509664704673913e-7 2.334999 44 106 0.01318155 Mouse Phenotype abnormal miniature excitatory postsynaptic currents 10 1.635996e-12 1.5641757756000002e-9 2.122935 107 0.03619756 53 1.3590472626226414e-9 2.604271 50 108 0.01497903 Mouse Phenotype decreased neurotransmitter release 12 9.808131e-12 7.81462837425e-9 3.391621 44 0.01488498 281 0.002443768463060498 2.584563 17 37 0.00509287 Mouse Phenotype hyporesponsive to tactile stimuli 21 5.789435e-10 2.6358470492857146e-7 2.70909 51 0.01725304 231 0.0009189060544155844 2.426568 22 51 0.006590773 Mouse Phenotype abnormal Purkinje cell innervation 27 1.134709e-9 4.0181306477777775e-7 3.840645 30 0.01014885 394 0.013173621423350252 3.461677 8 13 0.002396645 Mouse Phenotype abnormal paired-pulse facilitation 32 4.806924e-9 0.000001436218761375 2.154848 71 0.02401894 166 0.00014173710209638553 2.25009 32 80 0.009586579 Mouse Phenotype abnormal inhibitory postsynaptic currents 34 6.226767e-9 0.0000017510035084411765 2.045598 79 0.0267253 34 3.496989179117647e-12 3.074251 47 86 0.01408029 Mouse Phenotype abnormal channel response 45 9.222031e-8 0.000019593741864666666 2.262935 53 0.01792963 90 8.999380486e-7 3.437637 22 36 0.006590773 Mouse Phenotype abnormal adrenocorticotropin level 52 1.39402e-7 0.000025631202346153843 2.418995 45 0.01522327 124 0.00001677492099919355 3.018413 22 41 0.006590773 Mouse Phenotype impaired behavioral response to addictive substance 60 3.912724e-7 0.00006234925694 2.506121 39 0.0131935 167 0.0001438127261497006 2.640412 23 49 0.006890354 Mouse Phenotype abnormal conditioned place preference behavior 68 8.318829e-7 0.00011696518245441177 2.534308 36 0.01217862 247 0.0011377156464777328 2.732252 17 35 0.00509287 Mouse Phenotype impaired conditioned place preference behavior 69 8.411827e-7 0.00011655866369130437 2.816624 30 0.01014885 274 0.002084590762007299 2.916783 14 27 0.004194128 Mouse Phenotype absence seizures 74 0.000001611584 0.00020822100843243243 2.331415 40 0.0135318 147 0.00007585677887755101 2.960645 20 38 0.005991612 Mouse Phenotype analgesia 78 0.000002326921 0.0002852268164230769 2.850602 27 0.009133965 323 0.005250466070897833 2.812612 13 26 0.003894548 Mouse Phenotype abnormal NMDA-mediated synaptic currents 91 0.00000487249 0.000511932713076923 2.573473 30 0.01014885 549 0.04394409753005465 2.327679 12 29 0.003594967 Mouse Phenotype decreased excitatory postsynaptic current amplitude 92 0.00000532218 0.0005531017715217391 2.328501 36 0.01217862 376 0.011401093277393616 2.611711 13 28 0.003894548 Mouse Phenotype decreased respiratory quotient 95 0.000006595187 0.0006637535042842105 2.103539 44 0.01488498 361 0.009082714285595568 1.897666 28 83 0.008388256 Mouse Phenotype increased chemical nociceptive threshold 98 0.000007720802 0.0007532508971632652 2.287984 36 0.01217862 226 0.000809175774557522 2.903342 16 31 0.004793289