GRIN3A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)6.23931290
2vocalization behavior (GO:0071625)5.75181934
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51746778
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.31460798
5pyrimidine nucleobase catabolic process (GO:0006208)5.11663236
6regulation of glutamate receptor signaling pathway (GO:1900449)5.10084249
7locomotory exploration behavior (GO:0035641)5.08789286
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.03841201
9* ionotropic glutamate receptor signaling pathway (GO:0035235)5.02750217
10protein localization to synapse (GO:0035418)4.88053978
11synaptic vesicle exocytosis (GO:0016079)4.70225188
12behavioral response to nicotine (GO:0035095)4.68408003
13* glutamate receptor signaling pathway (GO:0007215)4.64848308
14neuron recognition (GO:0008038)4.59640353
15exploration behavior (GO:0035640)4.56880241
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.51666677
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.46659369
18nucleobase catabolic process (GO:0046113)4.29439714
19dendritic spine morphogenesis (GO:0060997)4.24565773
20postsynaptic membrane organization (GO:0001941)4.22488989
21synaptic vesicle maturation (GO:0016188)4.19170447
22* synaptic transmission, glutamatergic (GO:0035249)4.16631732
23presynaptic membrane assembly (GO:0097105)4.14785671
24regulation of synaptic vesicle exocytosis (GO:2000300)4.14543092
25layer formation in cerebral cortex (GO:0021819)4.09759028
26glutamate secretion (GO:0014047)4.05494262
27neurotransmitter secretion (GO:0007269)4.04813182
28proline transport (GO:0015824)4.01638159
29axonal fasciculation (GO:0007413)4.00580774
30* neuron-neuron synaptic transmission (GO:0007270)3.99192527
31gamma-aminobutyric acid transport (GO:0015812)3.98367516
32neuronal action potential propagation (GO:0019227)3.97167443
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.91535260
34neurotransmitter-gated ion channel clustering (GO:0072578)3.90638730
35regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.86625047
36positive regulation of synapse assembly (GO:0051965)3.82568626
37neuromuscular synaptic transmission (GO:0007274)3.81094621
38regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.79551426
39presynaptic membrane organization (GO:0097090)3.79530405
40establishment of mitochondrion localization (GO:0051654)3.73689148
41transmission of nerve impulse (GO:0019226)3.73429943
42regulation of neuronal synaptic plasticity (GO:0048168)3.71564079
43startle response (GO:0001964)3.70543042
44positive regulation of synaptic transmission, GABAergic (GO:0032230)3.70439358
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.69293664
46G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.68975610
47regulation of synapse structural plasticity (GO:0051823)3.68164536
48glycine transport (GO:0015816)3.60593137
49regulation of synaptic vesicle transport (GO:1902803)3.59961640
50long-term memory (GO:0007616)3.58939715
51regulation of excitatory postsynaptic membrane potential (GO:0060079)3.52024259
52neurotransmitter transport (GO:0006836)3.50263111
53regulation of synaptic transmission, glutamatergic (GO:0051966)3.47132050
54membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.44280441
55positive regulation of membrane potential (GO:0045838)3.44086000
56mitochondrion transport along microtubule (GO:0047497)3.43007790
57establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.43007790
58dendrite morphogenesis (GO:0048813)3.42171086
59positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.41575503
60regulation of postsynaptic membrane potential (GO:0060078)3.40044856
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.34932283
62positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.33419866
63synapse assembly (GO:0007416)3.32895436
64cellular potassium ion homeostasis (GO:0030007)3.31884391
65response to histamine (GO:0034776)3.30736343
66regulation of respiratory system process (GO:0044065)3.27017047
67regulation of dendritic spine morphogenesis (GO:0061001)3.25632519
68negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.24632189
69regulation of vesicle fusion (GO:0031338)3.24419101
70regulation of neurotransmitter levels (GO:0001505)3.19158839
71synaptic vesicle docking involved in exocytosis (GO:0016081)3.19088870
72positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.18876433
73long-term synaptic potentiation (GO:0060291)3.18643040
74innervation (GO:0060384)3.16441947
75cell migration in hindbrain (GO:0021535)3.10216667
76regulation of synapse assembly (GO:0051963)3.09603091
77membrane hyperpolarization (GO:0060081)3.08030555
78behavioral fear response (GO:0001662)3.07995349
79behavioral defense response (GO:0002209)3.07995349
80cerebellar Purkinje cell differentiation (GO:0021702)3.07903319
81righting reflex (GO:0060013)3.07759466
82regulation of synaptic plasticity (GO:0048167)3.06154699
83intraspecies interaction between organisms (GO:0051703)3.05248198
84social behavior (GO:0035176)3.05248198
85auditory behavior (GO:0031223)3.04876318
86membrane depolarization (GO:0051899)3.02636331
87response to auditory stimulus (GO:0010996)3.00033722
88synapse organization (GO:0050808)2.99913178
89regulation of respiratory gaseous exchange (GO:0043576)2.99458555
90neuronal ion channel clustering (GO:0045161)2.99185398
91learning (GO:0007612)2.99067587
92synaptic vesicle endocytosis (GO:0048488)2.98275736
93regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.98247279
94positive regulation of synapse maturation (GO:0090129)2.98191361
95G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.97305790
96membrane depolarization during action potential (GO:0086010)2.94962526
97positive regulation of dendritic spine development (GO:0060999)2.94377576
98central nervous system neuron axonogenesis (GO:0021955)2.94289371
99regulation of neurotransmitter secretion (GO:0046928)2.92698994
100positive regulation of dendritic spine morphogenesis (GO:0061003)2.91533444
101fear response (GO:0042596)2.90805220
102dendritic spine organization (GO:0097061)2.90606676
103L-amino acid import (GO:0043092)2.89184308
104regulation of synaptic transmission, GABAergic (GO:0032228)2.87016881
105* synaptic transmission (GO:0007268)2.85701075
106regulation of dendritic spine development (GO:0060998)2.85537483
107activation of protein kinase A activity (GO:0034199)2.85413157
108regulation of glutamate secretion (GO:0014048)2.85385637
109regulation of synapse organization (GO:0050807)2.84784542
110synaptic transmission, cholinergic (GO:0007271)2.84742748
111central nervous system projection neuron axonogenesis (GO:0021952)2.81150794
112negative regulation of microtubule polymerization (GO:0031115)2.81093260
113positive regulation of synaptic transmission (GO:0050806)2.80519189
114adult walking behavior (GO:0007628)2.79969118
115axon extension (GO:0048675)2.79418833
116mechanosensory behavior (GO:0007638)2.78870569
117regulation of neurotransmitter transport (GO:0051588)2.77894385
118cranial nerve morphogenesis (GO:0021602)2.74217658
119sodium ion export (GO:0071436)2.73942869
120* dendrite development (GO:0016358)2.71758685
121cerebellar granule cell differentiation (GO:0021707)2.71686932
122positive regulation of neurotransmitter secretion (GO:0001956)2.71102396
123neuromuscular process controlling balance (GO:0050885)2.70721128
124suckling behavior (GO:0001967)2.70582311
125axonogenesis (GO:0007409)2.68918914
126regulation of calcium ion-dependent exocytosis (GO:0017158)2.67646170
127serotonin metabolic process (GO:0042428)2.67094151
128ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.66999943
129nerve growth factor signaling pathway (GO:0038180)2.60905486

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.12229655
2GBX2_23144817_ChIP-Seq_PC3_Human3.94314163
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.16165886
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10056873
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06870932
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69018943
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69018943
8* EZH2_27304074_Chip-Seq_ESCs_Mouse2.68974081
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.67681638
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.66365218
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63305930
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.56368492
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51962613
14REST_21632747_ChIP-Seq_MESCs_Mouse2.44962030
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.38257284
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31575215
17TAF15_26573619_Chip-Seq_HEK293_Human2.29253960
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27306755
19AR_21572438_ChIP-Seq_LNCaP_Human2.25798615
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19601055
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.18103894
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.18079452
23* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17198491
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.10465622
25CTBP1_25329375_ChIP-Seq_LNCAP_Human2.04473069
26DROSHA_22980978_ChIP-Seq_HELA_Human2.02320939
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94419523
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94320168
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.93232916
30CBX2_27304074_Chip-Seq_ESCs_Mouse1.91515150
31REST_18959480_ChIP-ChIP_MESCs_Mouse1.84299539
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.82679267
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.75477573
34P300_19829295_ChIP-Seq_ESCs_Human1.75259377
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72092922
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.71624638
37RARB_27405468_Chip-Seq_BRAIN_Mouse1.69415079
38RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.68354271
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.63970307
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.62282696
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59457384
42ZNF274_21170338_ChIP-Seq_K562_Hela1.58896040
43* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.48365081
44TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47771862
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47385157
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.44133881
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.44132784
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43696853
49RNF2_27304074_Chip-Seq_NSC_Mouse1.43366042
50FUS_26573619_Chip-Seq_HEK293_Human1.43262141
51* PIAS1_25552417_ChIP-Seq_VCAP_Human1.41052845
52VDR_22108803_ChIP-Seq_LS180_Human1.40375948
53* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40021184
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.38248072
55IGF1R_20145208_ChIP-Seq_DFB_Human1.36797409
56SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35835039
57AR_25329375_ChIP-Seq_VCAP_Human1.33660696
58TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33613301
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.29856667
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.29676847
61SMAD_19615063_ChIP-ChIP_OVARY_Human1.27877168
62VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.25427066
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24113015
64* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.22799642
65CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21427517
66MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19310640
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18785439
68* STAT3_23295773_ChIP-Seq_U87_Human1.18334584
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16977224
70TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16977224
71CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.16931388
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.15189498
73ER_23166858_ChIP-Seq_MCF-7_Human1.14865971
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.13485736
75RUNX2_22187159_ChIP-Seq_PCA_Human1.12472462
76EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11370606
77TCF4_23295773_ChIP-Seq_U87_Human1.10630736
78RING1B_27294783_Chip-Seq_NPCs_Mouse1.09803587
79AHR_22903824_ChIP-Seq_MCF-7_Human1.09697406
80* AR_19668381_ChIP-Seq_PC3_Human1.08512649
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.07485274
82ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06976148
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05829708
84TP53_18474530_ChIP-ChIP_U2OS_Human1.05591291
85PRDM14_20953172_ChIP-Seq_ESCs_Human1.04637628
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02892244
87YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01946048
88BCAT_22108803_ChIP-Seq_LS180_Human1.01926799
89JUN_21703547_ChIP-Seq_K562_Human1.01366862
90NANOG_18555785_Chip-Seq_ESCs_Mouse0.99946431
91* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99478996
92SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99377640
93P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99175288
94KDM2B_26808549_Chip-Seq_K562_Human0.98594012
95* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98383635
96OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.95958913
97MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95021504
98SMAD3_21741376_ChIP-Seq_ESCs_Human0.92557591
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91959699
100WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91802371
101RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91463959
102KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.91331486
103CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90093131
104* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87222304
105BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.87095797
106CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.86814061
107IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.85665495
108CBP_20019798_ChIP-Seq_JUKART_Human0.85665495
109TP53_20018659_ChIP-ChIP_R1E_Mouse0.85446236
110KDM2B_26808549_Chip-Seq_REH_Human0.85124636
111* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.85069628
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.84969525
113TP53_16413492_ChIP-PET_HCT116_Human0.84265557

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.25818031
2MP0004859_abnormal_synaptic_plasticity5.10751726
3* MP0003635_abnormal_synaptic_transmissio3.84512346
4MP0005423_abnormal_somatic_nervous3.32783276
5MP0004270_analgesia3.30107069
6MP0009745_abnormal_behavioral_response3.23593532
7MP0002063_abnormal_learning/memory/cond3.07809577
8MP0001968_abnormal_touch/_nociception3.06970264
9MP0009046_muscle_twitch3.04266802
10MP0002064_seizures2.98165271
11MP0002572_abnormal_emotion/affect_behav2.80145356
12MP0002734_abnormal_mechanical_nocicepti2.66395451
13MP0001486_abnormal_startle_reflex2.64209040
14MP0002736_abnormal_nociception_after2.51760957
15* MP0002272_abnormal_nervous_system2.47760626
16MP0006276_abnormal_autonomic_nervous2.36213572
17MP0002735_abnormal_chemical_nociception2.29317979
18MP0001440_abnormal_grooming_behavior2.28898096
19MP0001501_abnormal_sleep_pattern2.20683549
20MP0000778_abnormal_nervous_system2.18670668
21MP0005645_abnormal_hypothalamus_physiol2.11154726
22MP0002067_abnormal_sensory_capabilities2.07196439
23MP0001529_abnormal_vocalization2.06115608
24MP0002733_abnormal_thermal_nociception2.02228995
25MP0002184_abnormal_innervation1.98345656
26MP0001970_abnormal_pain_threshold1.97440215
27MP0003283_abnormal_digestive_organ1.96954261
28MP0002557_abnormal_social/conspecific_i1.87195180
29MP0001984_abnormal_olfaction1.86584696
30MP0003329_amyloid_beta_deposits1.76123128
31MP0005646_abnormal_pituitary_gland1.72862752
32MP0005386_behavior/neurological_phenoty1.71885561
33MP0004924_abnormal_behavior1.71885561
34MP0004858_abnormal_nervous_system1.66675147
35MP0004142_abnormal_muscle_tone1.59731071
36MP0003787_abnormal_imprinting1.57968930
37MP0003122_maternal_imprinting1.56549048
38MP0008569_lethality_at_weaning1.53443487
39MP0000955_abnormal_spinal_cord1.52837943
40MP0004811_abnormal_neuron_physiology1.46524406
41MP0001905_abnormal_dopamine_level1.43647718
42* MP0002882_abnormal_neuron_morphology1.42059440
43MP0002822_catalepsy1.40960591
44MP0009780_abnormal_chondrocyte_physiolo1.39573624
45MP0002066_abnormal_motor_capabilities/c1.37712205
46MP0004885_abnormal_endolymph1.33192679
47MP0001188_hyperpigmentation1.32224951
48MP0001502_abnormal_circadian_rhythm1.31843544
49MP0004742_abnormal_vestibular_system1.28479663
50MP0000751_myopathy1.19772567
51MP0003172_abnormal_lysosome_physiology1.19730143
52MP0002909_abnormal_adrenal_gland1.16846812
53MP0002152_abnormal_brain_morphology1.16292212
54MP0004130_abnormal_muscle_cell1.16038771
55MP0003879_abnormal_hair_cell1.15827442
56MP0001348_abnormal_lacrimal_gland1.09635824
57MP0005377_hearing/vestibular/ear_phenot1.08526353
58MP0003878_abnormal_ear_physiology1.08526353
59* MP0005551_abnormal_eye_electrophysiolog1.06969736
60MP0003633_abnormal_nervous_system1.06926006
61MP0002837_dystrophic_cardiac_calcinosis1.06411271
62MP0000631_abnormal_neuroendocrine_gland1.03393730
63MP0001963_abnormal_hearing_physiology1.00474619
64MP0003634_abnormal_glial_cell1.00141782
65MP0005499_abnormal_olfactory_system0.97773101
66MP0005394_taste/olfaction_phenotype0.97773101
67MP0003690_abnormal_glial_cell0.97505574
68MP0003631_nervous_system_phenotype0.95529498
69MP0002638_abnormal_pupillary_reflex0.95301565
70MP0000015_abnormal_ear_pigmentation0.94214647
71MP0006072_abnormal_retinal_apoptosis0.92286866
72MP0002752_abnormal_somatic_nervous0.92223845
73MP0002229_neurodegeneration0.88814926
74MP0005174_abnormal_tail_pigmentation0.88428450
75MP0005409_darkened_coat_color0.88334315
76MP0003123_paternal_imprinting0.86825426
77MP0002069_abnormal_eating/drinking_beha0.84891414
78MP0003136_yellow_coat_color0.83694113
79MP0004145_abnormal_muscle_electrophysio0.83641000
80MP0003183_abnormal_peptide_metabolism0.82340766
81MP0004133_heterotaxia0.79300291
82MP0000026_abnormal_inner_ear0.79131912
83MP0002102_abnormal_ear_morphology0.79126459
84MP0004085_abnormal_heartbeat0.77254140
85MP0000013_abnormal_adipose_tissue0.76919334
86MP0001485_abnormal_pinna_reflex0.76900249
87MP0001299_abnormal_eye_distance/0.76685350
88MP0001177_atelectasis0.75743740
89MP0005535_abnormal_body_temperature0.74337186
90MP0004215_abnormal_myocardial_fiber0.72978338
91MP0003632_abnormal_nervous_system0.72358305
92MP0003137_abnormal_impulse_conducting0.72130895
93MP0002876_abnormal_thyroid_physiology0.72008799
94MP0003938_abnormal_ear_development0.71815357
95MP0000604_amyloidosis0.71578728
96MP0003861_abnormal_nervous_system0.71371649
97MP0000920_abnormal_myelination0.71330381
98MP0008872_abnormal_physiological_respon0.68975427
99MP0008877_abnormal_DNA_methylation0.68006800
100MP0004484_altered_response_of0.67104089
101MP0005187_abnormal_penis_morphology0.66657655
102MP0001943_abnormal_respiration0.66546646
103MP0000538_abnormal_urinary_bladder0.66500756
104MP0005310_abnormal_salivary_gland0.66393221
105MP0002751_abnormal_autonomic_nervous0.65665101
106MP0010386_abnormal_urinary_bladder0.65483036
107MP0000569_abnormal_digit_pigmentation0.65264740
108MP0009379_abnormal_foot_pigmentation0.64589098
109MP0005379_endocrine/exocrine_gland_phen0.64213545
110MP0003121_genomic_imprinting0.63901329
111MP0005253_abnormal_eye_physiology0.63756515
112MP0008874_decreased_physiological_sensi0.61739192
113MP0003646_muscle_fatigue0.61582487
114MP0002090_abnormal_vision0.61388420
115MP0003890_abnormal_embryonic-extraembry0.59646514
116MP0005195_abnormal_posterior_eye0.59469650
117MP0001664_abnormal_digestion0.58879298
118MP0005167_abnormal_blood-brain_barrier0.58550187
119MP0003315_abnormal_perineum_morphology0.58276326
120MP0002095_abnormal_skin_pigmentation0.57919494
121MP0005623_abnormal_meninges_morphology0.57178865
122MP0002082_postnatal_lethality0.56121711
123MP0010770_preweaning_lethality0.56121711
124MP0003385_abnormal_body_wall0.53260504

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.82970941
2Myokymia (HP:0002411)5.56899071
3Focal seizures (HP:0007359)5.25395662
4Visual hallucinations (HP:0002367)4.46143844
5Atonic seizures (HP:0010819)4.36751321
6Progressive cerebellar ataxia (HP:0002073)4.35731487
7Epileptic encephalopathy (HP:0200134)4.18502595
8Febrile seizures (HP:0002373)4.02538339
9Absence seizures (HP:0002121)3.85494569
10Generalized tonic-clonic seizures (HP:0002069)3.78853404
11Hyperventilation (HP:0002883)3.73576299
12Dialeptic seizures (HP:0011146)3.65537828
13Broad-based gait (HP:0002136)3.48595153
14Action tremor (HP:0002345)3.25435785
15Excessive salivation (HP:0003781)3.24844415
16Drooling (HP:0002307)3.24844415
17Polyphagia (HP:0002591)3.24350389
18Mutism (HP:0002300)3.21821264
19Progressive inability to walk (HP:0002505)3.06262952
20Abnormal eating behavior (HP:0100738)3.04992962
21Impaired vibration sensation in the lower limbs (HP:0002166)3.04831289
22Diplopia (HP:0000651)2.98746042
23Abnormality of binocular vision (HP:0011514)2.98746042
24Supranuclear gaze palsy (HP:0000605)2.96346358
25Truncal ataxia (HP:0002078)2.94401498
26Hemiparesis (HP:0001269)2.91815308
27Limb dystonia (HP:0002451)2.82291934
28Dysdiadochokinesis (HP:0002075)2.82290313
29Amblyopia (HP:0000646)2.79724515
30Neurofibrillary tangles (HP:0002185)2.75274036
31Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.72500273
32Degeneration of the lateral corticospinal tracts (HP:0002314)2.72500273
33Disinhibition (HP:0000734)2.72236189
34Ankle clonus (HP:0011448)2.69731630
35Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.69212529
36Abnormal ciliary motility (HP:0012262)2.66580510
37Cerebral inclusion bodies (HP:0100314)2.64015753
38Gaze-evoked nystagmus (HP:0000640)2.56715883
39Dysmetria (HP:0001310)2.55301180
40Sleep apnea (HP:0010535)2.53946888
41Anxiety (HP:0000739)2.49897987
42Absent speech (HP:0001344)2.49743693
43Depression (HP:0000716)2.48583746
44Poor eye contact (HP:0000817)2.47542828
45Urinary bladder sphincter dysfunction (HP:0002839)2.46032310
46Morphological abnormality of the pyramidal tract (HP:0002062)2.41369207
47Epileptiform EEG discharges (HP:0011182)2.37414904
48Fetal akinesia sequence (HP:0001989)2.34422857
49Abnormal social behavior (HP:0012433)2.34111151
50Impaired social interactions (HP:0000735)2.34111151
51Impaired vibratory sensation (HP:0002495)2.33945943
52Gait imbalance (HP:0002141)2.33472293
53Dynein arm defect of respiratory motile cilia (HP:0012255)2.33410484
54Absent/shortened dynein arms (HP:0200106)2.33410484
55Torticollis (HP:0000473)2.32210166
56Genetic anticipation (HP:0003743)2.31162023
57EEG with generalized epileptiform discharges (HP:0011198)2.29061761
58Turricephaly (HP:0000262)2.28256280
59Apathy (HP:0000741)2.27755935
60Abnormality of the corticospinal tract (HP:0002492)2.27714243
61Diminished motivation (HP:0000745)2.26797608
62Pheochromocytoma (HP:0002666)2.25759775
63Abnormal respiratory motile cilium physiology (HP:0012261)2.25385929
64Peripheral hypomyelination (HP:0007182)2.22222192
65Spastic tetraparesis (HP:0001285)2.21579242
66Abnormality of salivation (HP:0100755)2.20233483
67Neuronal loss in central nervous system (HP:0002529)2.15940036
68Inability to walk (HP:0002540)2.15670978
69Narrow nasal bridge (HP:0000446)2.14992917
70Hypsarrhythmia (HP:0002521)2.14910739
71Spastic gait (HP:0002064)2.14872796
72Specific learning disability (HP:0001328)2.11831144
73Aplasia/Hypoplasia of the brainstem (HP:0007362)2.11376685
74Hypoplasia of the brainstem (HP:0002365)2.11376685
75Agitation (HP:0000713)2.11083436
76Protruding tongue (HP:0010808)2.10228471
77Aqueductal stenosis (HP:0002410)2.08605160
78Esotropia (HP:0000565)2.07900678
79Postural instability (HP:0002172)2.06460801
80Blue irides (HP:0000635)2.06046718
81Urinary urgency (HP:0000012)2.05993667
82Hypoventilation (HP:0002791)2.03775868
83Akinesia (HP:0002304)2.01914527
84Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.01229437
85Spastic tetraplegia (HP:0002510)2.01121111
86Chronic hepatic failure (HP:0100626)2.01007474
87Neuroendocrine neoplasm (HP:0100634)2.00726678
88Amyotrophic lateral sclerosis (HP:0007354)1.99816732
89Generalized myoclonic seizures (HP:0002123)1.99054495
90Abnormal respiratory motile cilium morphology (HP:0005938)1.98682999
91Abnormal respiratory epithelium morphology (HP:0012253)1.98682999
92Lower limb muscle weakness (HP:0007340)1.98659222
93Abnormal hair whorl (HP:0010721)1.98142385
94Exotropia (HP:0000577)1.97382537
95Obstructive sleep apnea (HP:0002870)1.97041437
96Scanning speech (HP:0002168)1.95924270
97Hemiplegia (HP:0002301)1.95483419
98Inappropriate behavior (HP:0000719)1.94252337
99Insidious onset (HP:0003587)1.93764953
100Termporal pattern (HP:0011008)1.93764953
101Aplasia involving bones of the upper limbs (HP:0009823)1.93607136
102Aplasia of the phalanges of the hand (HP:0009802)1.93607136
103Aplasia involving bones of the extremities (HP:0009825)1.93607136
104Lissencephaly (HP:0001339)1.93424756
105Vaginal atresia (HP:0000148)1.92842093
106Paraplegia (HP:0010550)1.92713322
107Status epilepticus (HP:0002133)1.92426102
108Bradykinesia (HP:0002067)1.91726000
109Failure to thrive in infancy (HP:0001531)1.91512180
110Mild short stature (HP:0003502)1.90884674
111Papilledema (HP:0001085)1.90327965
112Hypoplastic nipples (HP:0002557)1.90075730
113Congenital primary aphakia (HP:0007707)1.87679096
114Impaired smooth pursuit (HP:0007772)1.87399314
115Stereotypic behavior (HP:0000733)1.86919006
116Renovascular hypertension (HP:0100817)1.86897277
117Retinal dysplasia (HP:0007973)1.86154838
118Medial flaring of the eyebrow (HP:0010747)1.85409413
119Hypoplasia of the corpus callosum (HP:0002079)1.85229524
120Clonus (HP:0002169)1.84031737
121Bronchomalacia (HP:0002780)1.83412172
122Morphological abnormality of the middle ear (HP:0008609)1.82747761
123Megalencephaly (HP:0001355)1.82098894
124Cutaneous finger syndactyly (HP:0010554)1.81982801
125Psychosis (HP:0000709)1.81380619
126Genital tract atresia (HP:0001827)1.80781162
127Focal dystonia (HP:0004373)1.80526991
128Nephrogenic diabetes insipidus (HP:0009806)1.79732225
129Intellectual disability, severe (HP:0010864)1.78466652
130Spastic paraplegia (HP:0001258)1.75769278
131Macroglossia (HP:0000158)1.73435938
132Restlessness (HP:0000711)1.72584784

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.45445655
2MARK14.18524786
3MAP3K43.29996181
4EPHA43.29504545
5CASK3.23668324
6MAP2K72.95964146
7MAP3K92.84103338
8NTRK22.83516561
9MAP3K122.64097435
10MINK12.44845893
11MAPK132.28402894
12PNCK2.17536087
13TNIK2.11162824
14MAP2K41.93929841
15SIK21.80364134
16CAMKK21.67942735
17CAMK1D1.66117218
18NTRK11.65070131
19RIPK41.62442165
20PINK11.59996189
21PAK61.58905933
22PLK21.51875965
23FES1.51667904
24FRK1.47614738
25GRK51.47007477
26PHKG21.46728411
27PHKG11.46728411
28CDK51.44761669
29KSR11.42453528
30DAPK21.32050143
31PRKCG1.31554975
32UHMK11.26361696
33CAMK2A1.16861195
34KSR21.14946385
35GRK71.12381881
36EPHB21.12280933
37LATS21.02272331
38DAPK11.01121463
39BLK0.98375774
40PAK30.96267904
41CAMK2B0.93691684
42ARAF0.91717131
43STK380.91109533
44CAMKK10.90719434
45FGR0.90427652
46NME10.89525627
47TNK20.89027710
48DYRK1A0.88648022
49CDK190.84541911
50BMPR20.83159933
51DYRK20.82849102
52ERBB20.81167162
53CSNK1G20.81034393
54MUSK0.80798747
55SGK4940.79857156
56SGK2230.79857156
57WNK30.79801448
58TYRO30.78159774
59CDK180.75151443
60ERBB30.74561647
61PRKCE0.74363478
62OXSR10.74335294
63PTK2B0.73692900
64STK110.73549606
65SGK20.73502436
66CDK150.73363902
67PKN10.73357512
68CDK140.72585300
69MAP2K60.71915381
70CAMK10.67258044
71SIK30.65768838
72SGK10.65392859
73BRD40.65310061
74CAMK1G0.64228438
75MAP3K20.64048306
76CAMK40.62799262
77CDK11A0.62510183
78CAMK2D0.59327192
79MAP3K110.58448877
80FER0.58114064
81LMTK20.57819033
82ACVR1B0.57434834
83TAOK10.56294874
84PRKCH0.54857070
85MARK20.54305939
86ADRBK10.53494907
87FGFR20.52983141
88PRKCZ0.52483907
89BMPR1B0.49967935
90MARK30.49238297
91ROCK20.48910333
92MAP3K60.48706889
93PRKD30.47954160
94RET0.47485901
95CAMK2G0.47080604
96INSRR0.46998926
97RPS6KA30.46023297
98RAF10.45919220
99CDC42BPA0.45802261
100CSNK1G30.45625613
101MAP3K130.44856827
102MAPK120.44679990
103FYN0.44455787
104MAPK100.43427024
105PRKG10.43420691
106PRPF4B0.42764677
107PRKACA0.42499852
108AKT30.42307367
109RPS6KA20.42204149
110ADRBK20.41136478
111PDGFRB0.40014016
112PRKCB0.39602395
113SGK30.39418436
114ROCK10.39033374
115PRKAA10.38963876
116CSNK1A1L0.38760963
117ALK0.37391565
118BCR0.36478210
119PRKCA0.35918837
120NEK60.35525468
121CSNK1D0.33205955
122JAK10.32918482
123SIK10.32077428
124SYK0.31114708
125DYRK1B0.30502095
126JAK20.27195255
127PDK10.25896165
128MAPK150.25260415
129CDK120.25055188
130PRKACB0.24398192

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.39383534
2Synaptic vesicle cycle_Homo sapiens_hsa047212.94575554
3GABAergic synapse_Homo sapiens_hsa047272.88893761
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.87666098
5* Glutamatergic synapse_Homo sapiens_hsa047242.66989379
6Circadian entrainment_Homo sapiens_hsa047132.55168311
7Morphine addiction_Homo sapiens_hsa050322.50415977
8Long-term potentiation_Homo sapiens_hsa047202.48565167
9Olfactory transduction_Homo sapiens_hsa047402.40244543
10* Amphetamine addiction_Homo sapiens_hsa050312.19692937
11Taste transduction_Homo sapiens_hsa047422.14598734
12Salivary secretion_Homo sapiens_hsa049702.07809744
13Dopaminergic synapse_Homo sapiens_hsa047282.04795251
14Serotonergic synapse_Homo sapiens_hsa047261.92385053
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.89600704
16Long-term depression_Homo sapiens_hsa047301.88495331
17Insulin secretion_Homo sapiens_hsa049111.85227798
18Gastric acid secretion_Homo sapiens_hsa049711.79320977
19Renin secretion_Homo sapiens_hsa049241.74952361
20Collecting duct acid secretion_Homo sapiens_hsa049661.71666241
21Cholinergic synapse_Homo sapiens_hsa047251.70901199
22Calcium signaling pathway_Homo sapiens_hsa040201.66477232
23Cardiac muscle contraction_Homo sapiens_hsa042601.63067348
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.58828717
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.57697239
26Oxytocin signaling pathway_Homo sapiens_hsa049211.51268907
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51204051
28* Cocaine addiction_Homo sapiens_hsa050301.46704699
29* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.46649670
30Oxidative phosphorylation_Homo sapiens_hsa001901.45363448
31Gap junction_Homo sapiens_hsa045401.39553775
32Axon guidance_Homo sapiens_hsa043601.38182860
33Alzheimers disease_Homo sapiens_hsa050101.29631385
34GnRH signaling pathway_Homo sapiens_hsa049121.29584142
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21087629
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17170720
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.16118560
38* cAMP signaling pathway_Homo sapiens_hsa040241.13542188
39Parkinsons disease_Homo sapiens_hsa050121.07499614
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.06796722
41Estrogen signaling pathway_Homo sapiens_hsa049151.05652441
42Phototransduction_Homo sapiens_hsa047441.05627300
43Type II diabetes mellitus_Homo sapiens_hsa049301.05368189
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00481972
45Melanogenesis_Homo sapiens_hsa049161.00024731
46Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.99534590
47Vibrio cholerae infection_Homo sapiens_hsa051100.98186994
48Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.96962419
49ErbB signaling pathway_Homo sapiens_hsa040120.94538635
50Glioma_Homo sapiens_hsa052140.92319795
51Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.91330034
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89585845
53Chemokine signaling pathway_Homo sapiens_hsa040620.87369152
54Huntingtons disease_Homo sapiens_hsa050160.85507651
55Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83650257
56Dilated cardiomyopathy_Homo sapiens_hsa054140.83094856
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82932692
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.82496824
59Mineral absorption_Homo sapiens_hsa049780.82106148
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81043336
61Prolactin signaling pathway_Homo sapiens_hsa049170.79803282
62Pancreatic secretion_Homo sapiens_hsa049720.79344911
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.78940961
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.77059406
65Toll-like receptor signaling pathway_Homo sapiens_hsa046200.75860882
66Phospholipase D signaling pathway_Homo sapiens_hsa040720.74912612
67Dorso-ventral axis formation_Homo sapiens_hsa043200.72507118
68Fatty acid biosynthesis_Homo sapiens_hsa000610.71819615
69Choline metabolism in cancer_Homo sapiens_hsa052310.71232820
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.70413378
71Thyroid hormone synthesis_Homo sapiens_hsa049180.68726199
72MAPK signaling pathway_Homo sapiens_hsa040100.66966369
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66863097
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.66178569
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.65174773
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64066451
77B cell receptor signaling pathway_Homo sapiens_hsa046620.64055543
78Oocyte meiosis_Homo sapiens_hsa041140.60214235
79Type I diabetes mellitus_Homo sapiens_hsa049400.59566034
80Osteoclast differentiation_Homo sapiens_hsa043800.59273229
81Ras signaling pathway_Homo sapiens_hsa040140.55911529
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55668196
83Wnt signaling pathway_Homo sapiens_hsa043100.52154280
84Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.51854747
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51554412
86T cell receptor signaling pathway_Homo sapiens_hsa046600.49698503
87Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48455547
88Tuberculosis_Homo sapiens_hsa051520.47554669
89* Alcoholism_Homo sapiens_hsa050340.46406136
90Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.46137969
91ABC transporters_Homo sapiens_hsa020100.45218827
92Bile secretion_Homo sapiens_hsa049760.44586510
93Rap1 signaling pathway_Homo sapiens_hsa040150.44403444
94Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44224766
95Prion diseases_Homo sapiens_hsa050200.44139653
96Inositol phosphate metabolism_Homo sapiens_hsa005620.44046411
97Butanoate metabolism_Homo sapiens_hsa006500.43723245
98Platelet activation_Homo sapiens_hsa046110.42797838
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41575165
100Hedgehog signaling pathway_Homo sapiens_hsa043400.41213130
101Ovarian steroidogenesis_Homo sapiens_hsa049130.40358955
102Nitrogen metabolism_Homo sapiens_hsa009100.40173975
103African trypanosomiasis_Homo sapiens_hsa051430.38730852
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.38388640
105FoxO signaling pathway_Homo sapiens_hsa040680.38380877
106Glucagon signaling pathway_Homo sapiens_hsa049220.37497660
107Neurotrophin signaling pathway_Homo sapiens_hsa047220.36945109
108mTOR signaling pathway_Homo sapiens_hsa041500.35875814
109AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.35236007
110Lysosome_Homo sapiens_hsa041420.34087619
111Renal cell carcinoma_Homo sapiens_hsa052110.33996299
112Rheumatoid arthritis_Homo sapiens_hsa053230.32911523
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32722755
114Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31212356
115Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30919567
116Phagosome_Homo sapiens_hsa041450.30085149
117VEGF signaling pathway_Homo sapiens_hsa043700.28321727
118Melanoma_Homo sapiens_hsa052180.26200011
119Insulin signaling pathway_Homo sapiens_hsa049100.25908856
120Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25125226
121Colorectal cancer_Homo sapiens_hsa052100.22629450
122Endometrial cancer_Homo sapiens_hsa052130.22135763

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