# 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 neurotransmitter transport 8 3.661571e-12 6.022826598625e-9 2.284811 88 0.03584521 78 7.712992641282051e-7 2.280201 50 140 0.01700102 GO Biological Process signal release 12 2.981822e-11 3.2698163081666663e-8 2.080209 99 0.04032587 73 4.96732060849315e-7 2.179162 57 167 0.01938116 GO Biological Process neurotransmitter secretion 13 1.367766e-10 1.3844948303076922e-7 2.400975 68 0.02769857 108 0.00006182753713148148 2.298443 36 100 0.01224073 GO Biological Process presynaptic process involved in chemical synaptic transmission 15 2.059496e-10 1.8067271909333332e-7 2.342468 70 0.02851324 98 0.00002838009586530612 2.310604 38 105 0.01292078 GO Biological Process regulation of neuronal synaptic plasticity 29 8.574215e-9 0.000003890623971896552 2.823027 41 0.01670061 103 0.000050665650549514564 2.936899 23 50 0.007820469 GO Biological Process memory 30 1.637183e-8 0.000007181230365666667 2.07287 72 0.0293279 79 9.385370250253165e-7 2.49302 41 105 0.01394084 GO Biological Process synaptic vesicle cycle 33 2.41922e-8 0.000009646823024242424 2.206016 61 0.02484725 131 0.00021100577040458014 2.237888 34 97 0.01156069 GO Biological Process synaptic vesicle exocytosis 34 2.514166e-8 0.000009730561880588235 2.603375 44 0.01792261 192 0.0022119367465104167 2.368467 23 62 0.007820469 GO Biological Process calcium ion regulated exocytosis 43 1.719921e-7 0.000052633582416279066 2.346088 47 0.0191446 243 0.008522678158024691 2.128188 24 72 0.00816049 GO Biological Process regulation of cholesterol metabolic process 48 4.533481e-7 0.00012428349266458335 3.113029 27 0.01099796 142 0.0005393086413380281 2.650196 22 53 0.007480449 GO Biological Process regulation of vascular permeability 52 0.000001110216 0.0002809486989230769 3.042094 26 0.01059063 283 0.01326618772720848 2.766644 13 30 0.004420265 GO Biological Process associative learning 56 0.000001192614 0.0002802429933214286 2.228781 45 0.01832994 104 0.000054473907407692305 2.57156 29 72 0.009860592 GO Biological Process long-term memory 59 0.000001251 0.00027901540677966103 2.75903 30 0.01221996 262 0.011030787898473282 2.708603 14 33 0.004760286 GO Biological Process regulation of short-term neuronal synaptic plasticity 62 0.000001779677 0.00037772209101612903 3.727164 19 0.007739308 232 0.006447717152586207 3.830738 9 15 0.003060184 GO Biological Process regulation of cholesterol biosynthetic process 69 0.000003018168 0.0005755952566956522 3.118106 23 0.009368635 181 0.001754565079723757 2.736241 18 42 0.006120367 GO Biological Process regulation of glutamate receptor signaling pathway 73 0.000005530488 0.000996927282082192 2.427275 33 0.01344196 183 0.0018474790175956285 2.918657 16 35 0.005440326 GO Biological Process regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity 76 0.000006474183 0.0011209707118026316 3.161438 21 0.008553971 189 0.002106718999100529 3.696326 11 19 0.003740224 GO Biological Process regulation of telomeric DNA binding 83 0.000009104487 0.0014434451136506024 5.43661 11 0.004480652 326 0.02425118529785276 6.384563 4 4 0.001360082 GO Biological Process social behavior 91 0.0000132978 0.001922920331868132 2.173324 38 0.01547862 193 0.002817673943160622 2.50375 20 51 0.006800408 GO Biological Process regulation of calcium ion-dependent exocytosis 93 0.00001338029 0.0018932390979569892 2.172697 38 0.01547862 268 0.01116602034925373 2.160929 22 65 0.007480449 GO Cellular Component axon part 14 5.642355e-13 6.96427817142857e-11 2.097772 114 0.04643585 24 2.2740472800000003e-10 2.337518 67 183 0.02278137 GO Cellular Component transport vesicle membrane 20 9.795924e-10 8.463678336000001e-8 2.12156 80 0.03258656 41 0.000008282607453658536 1.983904 55 177 0.01870112 GO Cellular Component synaptic vesicle 25 2.078748e-8 0.0000014368306176 2.014875 76 0.03095723 52 0.00033519345230769235 1.890167 45 152 0.01530092 GO Cellular Component terminal bouton 29 5.815204e-8 0.0000034650594868965516 2.52551 44 0.01792261 64 0.0027896886 2.26549 22 62 0.007480449 GO Cellular Component synaptic vesicle membrane 34 6.989417e-7 0.00003552268404705882 2.275161 45 0.01832994 57 0.00066037248 2.207009 28 81 0.009520571 GO Cellular Component main axon 36 8.889162e-7 0.0000426679776 2.20903 47 0.0191446 34 2.462904677647059e-8 3.14161 31 63 0.01054063 GO Cellular Component axon initial segment 38 0.000001096348 0.000049854982736842106 4.497732 16 0.006517312 51 0.00026586215152941175 4.788422 9 12 0.003060184 GO Cellular Component postsynaptic density membrane 52 0.00002541171 0.0008444506707692308 3.480884 16 0.006517312 56 0.0004898176457142858 5.586493 7 8 0.002380143 GO Cellular Component postsynaptic specialization membrane 55 0.00003277704 0.0010297950021818181 3.406172 16 0.006517312 61 0.0017474281022950818 4.965771 7 9 0.002380143 GO Cellular Component node of Ranvier 57 0.00003685392 0.00111725568 3.372108 16 0.006517312 53 0.00040028109283018874 4.256375 10 15 0.003400204 GO Cellular Component neuronal cell body membrane 68 0.0001473707 0.0037449495529411764 2.602428 20 0.00814664 47 0.00007169019778723405 3.952349 13 21 0.004420265 GO Cellular Component NMDA selective glutamate receptor complex 87 0.000512562 0.010180541793103449 2.887379 14 0.005702648 48 0.00008212960800000001 5.223733 9 11 0.003060184 GO Cellular Component G-protein coupled receptor dimeric complex 101 0.001301194 0.022262012198019803 3.888058 8 0.003258656 75 0.03441742848 4.560402 5 7 0.001700102 GO Molecular Function hormone activity 26 0.000001876831 0.00030476848007692306 2.168035 46 0.01873727 49 0.02532650278367347 1.80896 34 120 0.01156069 GO Molecular Function neuropeptide hormone activity 30 0.000004576906 0.0006441232377333333 3.485629 19 0.007739308 29 0.00008415801407586207 3.648322 16 28 0.005440326 GO Molecular Function sodium channel activity 33 0.000005531024 0.0007076358584242424 2.554776 30 0.01221996 37 0.002128577212972973 2.695704 19 45 0.006460388 GO Molecular Function excitatory extracellular ligand-gated ion channel activity 34 0.000009104596 0.0011305765974117647 2.18577 39 0.01588595 30 0.00010763845452 2.926258 22 48 0.007480449 GO Molecular Function neuropeptide receptor binding 41 0.0000258152 0.00265833596097561 2.965974 20 0.00814664 38 0.004296774953157895 3.082203 14 29 0.004760286 GO Molecular Function transmitter-gated ion channel activity 46 0.00004393738 0.0040326873556521745 2.010427 40 0.01629328 28 0.00005979820652857143 2.936899 23 50 0.007820469 GO Molecular Function peptide hormone receptor binding 49 0.00006133076 0.005284458545306122 3.383193 15 0.00610998 41 0.005942774956585366 3.51151 11 20 0.003740224 GO Molecular Function neurotransmitter transporter activity 56 0.00009341959 0.007043169803214286 3.25471 15 0.00610998 45 0.013997084013333333 3.06459 12 25 0.004080245 GO Molecular Function NMDA glutamate receptor activity 60 0.0001443144 0.01015492328 3.698941 12 0.004887984 33 0.00029408200266666667 6.384563 7 7 0.002380143 GO Molecular Function ionotropic glutamate receptor activity 62 0.0001737092 0.011829036167741934 2.136275 29 0.01181263 27 0.0000554932486962963 4.368385 13 19 0.004420265 GO Molecular Function extracellular-glutamate-gated ion channel activity 81 0.0007138527 0.037208470362962966 2.007744 27 0.01099796 34 0.00045196348570588236 4.032356 12 19 0.004080245 Human Phenotype Epileptic encephalopathy 9 0.00000114883 0.0008517936211111112 2.306641 42 0.01710794 2 0.003692417801 2.736241 24 56 0.00816049 Mouse Phenotype Single KO abnormal miniature excitatory postsynaptic currents 6 2.475519e-12 3.7780545805000004e-9 2.415928 80 0.03258656 37 1.6812756872432432e-9 3.074049 39 81 0.0132608 Mouse Phenotype Single KO abnormal excitatory postsynaptic currents 12 1.940664e-9 0.0000014808883539999998 2.016885 87 0.03543788 27 2.7303277674814813e-11 3.122884 45 92 0.01530092 Mouse Phenotype Single KO absence seizures 13 2.870609e-9 0.0000020220128163846154 3.208524 36 0.01466395 88 0.000008339845969090909 3.707166 18 31 0.006120367 Mouse Phenotype Single KO abnormal neurotransmitter secretion 19 1.858913e-8 0.000008958982284736843 2.507045 48 0.01955193 97 0.00001572343749896907 2.902074 25 55 0.00850051 Mouse Phenotype Single KO abnormal conditioned place preference behavior 21 4.367088e-8 0.000019042583245714286 3.105635 32 0.01303462 160 0.000578200451 3.095546 16 33 0.005440326 Mouse Phenotype Single KO impaired conditioned place preference behavior 24 9.109205e-8 0.00003475541257708333 3.295696 28 0.0114053 143 0.0002652567742517483 3.575355 14 25 0.004760286 Mouse Phenotype Single KO abnormal fatty acid oxidation 25 9.950515e-8 0.000036446746342000005 3.969783 22 0.008961303 312 0.01901033115128205 2.321659 16 44 0.005440326 Mouse Phenotype Single KO abnormal hippocampus layer morphology 27 1.137745e-7 0.00003858641098148148 2.286649 51 0.02077393 112 0.00004970643619464286 2.536333 29 73 0.009860592 Mouse Phenotype Single KO abnormal lipid oxidation 29 1.236083e-7 0.000039030386313793106 3.918759 22 0.008961303 361 0.028662272432132964 2.220718 16 46 0.005440326 Mouse Phenotype Single KO nonconvulsive seizures 32 2.291045e-7 0.000065559684578125 2.637118 37 0.01507128 100 0.000025072589403 3.369631 19 36 0.006460388 Mouse Phenotype Single KO abnormal hippocampus pyramidal cell layer 35 3.403682e-7 0.00008905004592571429 2.392184 43 0.01751527 124 0.00009277141316935483 2.660235 25 60 0.00850051 Mouse Phenotype Single KO abnormal inhibitory postsynaptic currents 38 4.216608e-7 0.00010160915646315791 2.148961 53 0.02158859 59 1.0452493559152541e-7 3.049344 32 67 0.01088065 Mouse Phenotype Single KO abnormal spike wave discharge 45 9.938639e-7 0.00020224026071777779 3.236173 24 0.009775967 154 0.00046364899728571434 3.830738 12 20 0.004080245 Mouse Phenotype Single KO abnormal behavioral response to alcohol 46 0.000001086014 0.000216187613 4.253087 17 0.006924644 412 0.04020605329854369 2.873053 9 20 0.003060184 Mouse Phenotype Single KO abnormal insulin-like growth factor I level 52 0.000001703304 0.0002999452832307692 2.384619 38 0.01547862 164 0.0006647099801219512 2.553825 22 55 0.007480449 Mouse Phenotype Single KO decreased chondrocyte number 57 0.000003108676 0.0004994060724912281 3.023779 24 0.009775967 288 0.014054748630555555 3.648322 8 14 0.002720163 Mouse Phenotype Single KO decreased paired-pulse facilitation 61 0.000005001954 0.0007508670947213114 2.937599 24 0.009775967 364 0.029038934997252745 3.024267 9 19 0.003060184 Mouse Phenotype Single KO abnormal olfactory bulb layer morphology 66 0.000007048978 0.000977992296151515 2.803731 25 0.0101833 141 0.00023637314793617019 4.032356 12 19 0.004080245 Mouse Phenotype Single KO decreased neurotransmitter release 73 0.000009657277 0.0012113929519041097 3.302027 19 0.007739308 340 0.024706830274705882 2.902074 10 22 0.003400204 Mouse Phenotype Single KO abnormal brain wave pattern 81 0.00001457881 0.0016481254712345681 2.163997 38 0.01547862 127 0.00010211662882677166 2.770659 23 53 0.007820469 Mouse Phenotype abnormal excitatory postsynaptic currents 4 7.154762e-16 1.71016698705e-12 2.176395 131 0.05336049 12 2.07068552625e-16 3.036016 68 143 0.02312139 Mouse Phenotype abnormal miniature excitatory postsynaptic currents 5 1.442366e-15 2.7580922651999996e-12 2.436723 102 0.04154786 24 4.39006461375e-12 3.014933 51 108 0.01734104 Mouse Phenotype abnormal neurotransmitter secretion 6 7.407125e-15 1.1803253687500002e-11 2.655519 83 0.03380855 52 2.6776003390384615e-9 2.969564 40 86 0.01360082 Mouse Phenotype decreased neurotransmitter release 9 2.187649e-11 2.3240124543333335e-8 3.619697 39 0.01588595 130 0.00003531430367076923 3.278559 19 37 0.006460388 Mouse Phenotype abnormal inhibitory postsynaptic currents 21 3.5578e-9 0.000001619815514285714 2.18245 70 0.02851324 35 1.5779310497142857e-10 3.118042 42 86 0.01428086 Mouse Phenotype absence seizures 27 1.500394e-8 0.000005313061864444445 2.807194 40 0.01629328 86 0.0000024368465340697677 3.528311 21 38 0.007140428 Mouse Phenotype abnormal behavioral response to alcohol 30 4.096171e-8 0.000013054496977 4.571797 20 0.00814664 297 0.005751594995959596 3.192282 11 22 0.003740224 Mouse Phenotype abnormal response to tactile stimuli 33 4.508487e-8 0.000013062316426363637 2.054149 69 0.02810591 117 0.000022889548823076924 2.288806 38 106 0.01292078 Mouse Phenotype abnormal conditioned place preference behavior 36 9.546513e-8 0.000025353947442499996 2.881965 34 0.01384929 170 0.0002910819454235294 3.101073 17 35 0.005780347 Mouse Phenotype impaired conditioned place preference behavior 39 2.026097e-7 0.00004967054722307693 3.165327 28 0.0114053 196 0.0006658553571428572 3.310514 14 27 0.004760286 Mouse Phenotype impaired synaptic plasticity 40 2.102177e-7 0.0000502472857425 2.606633 38 0.01547862 357 0.012758222503361345 2.30931 17 47 0.005780347 Mouse Phenotype abnormal Purkinje cell innervation 42 3.622e-7 0.00008245224285714286 3.545387 23 0.009368635 442 0.03551807670135747 3.437842 7 13 0.002380143 Mouse Phenotype hyporesponsive to tactile stimuli 43 4.298533e-7 0.0000955773814255814 2.494427 39 0.01588595 289 0.004761172885121107 2.378563 19 51 0.006460388 Mouse Phenotype nonconvulsive seizures 46 5.609161e-7 0.00011658519200217391 2.403359 41 0.01670061 97 0.000006440144706494846 3.266521 22 43 0.007480449 Mouse Phenotype abnormal liquid preference 47 5.898387e-7 0.00011998825129148938 3.069666 27 0.01099796 322 0.008471437941614906 2.766644 13 30 0.004420265 Mouse Phenotype abnormal fatty acid oxidation 48 6.126814e-7 0.0001220384763625 3.143762 26 0.01059063 345 0.011686839852173912 2.164259 20 59 0.006800408 Mouse Phenotype abnormal paired-pulse facilitation 52 8.94182e-7 0.00016440911734615383 2.046441 56 0.02281059 287 0.004559974035888502 2.074983 26 80 0.00884053 Mouse Phenotype abnormal lipid oxidation 55 0.000001110561 0.00019305588583636363 3.042041 26 0.01059063 396 0.02093616594848485 2.059536 20 62 0.006800408 Mouse Phenotype abnormal glutamate-mediated receptor currents 57 0.000001412158 0.00023687092347368421 2.131129 49 0.01995927 101 0.000007980461623663365 2.793246 28 64 0.009520571 Mouse Phenotype abnormal spike wave discharge 60 0.000002138213 0.00034072424155 3.092563 24 0.009775967 223 0.0012609702778923768 3.482489 12 22 0.004080245