GABRA4

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: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sodium ion export (GO:0071436)6.70866729
2cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.79098765
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.76277467
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.69061862
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.63975056
6vocalization behavior (GO:0071625)5.63797996
7synaptic vesicle exocytosis (GO:0016079)5.33611511
8regulation of glutamate receptor signaling pathway (GO:1900449)5.19893366
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.15570866
10neurotransmitter-gated ion channel clustering (GO:0072578)5.10821444
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.10254051
12glutamate secretion (GO:0014047)5.06837276
13protein localization to synapse (GO:0035418)5.03062970
14regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.94532247
15cell communication by electrical coupling (GO:0010644)4.90487375
16glutamate receptor signaling pathway (GO:0007215)4.82811249
17neuron cell-cell adhesion (GO:0007158)4.81133313
18locomotory exploration behavior (GO:0035641)4.77168224
19regulation of synaptic vesicle exocytosis (GO:2000300)4.72925760
20neuronal action potential propagation (GO:0019227)4.72350215
21neuron-neuron synaptic transmission (GO:0007270)4.68589521
22synaptic transmission, glutamatergic (GO:0035249)4.65920300
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.63049084
24L-amino acid import (GO:0043092)4.56652574
25positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.54151861
26cellular sodium ion homeostasis (GO:0006883)4.52829508
27regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.52775484
28synaptic vesicle maturation (GO:0016188)4.52553777
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.51491475
30regulation of neuronal synaptic plasticity (GO:0048168)4.28517808
31regulation of synaptic vesicle transport (GO:1902803)4.27785094
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.26641465
33regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.26345416
34potassium ion import (GO:0010107)4.25719005
35cell communication involved in cardiac conduction (GO:0086065)4.23299289
36presynaptic membrane assembly (GO:0097105)4.22284561
37potassium ion homeostasis (GO:0055075)4.17893789
38negative regulation of synaptic transmission, GABAergic (GO:0032229)4.16336268
39neurotransmitter secretion (GO:0007269)4.15913718
40response to histamine (GO:0034776)4.15604932
41long-term synaptic potentiation (GO:0060291)4.06077763
42regulation of postsynaptic membrane potential (GO:0060078)4.02482086
43* gamma-aminobutyric acid signaling pathway (GO:0007214)4.02171139
44exploration behavior (GO:0035640)4.00552106
45positive regulation of synapse maturation (GO:0090129)3.97713780
46membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.94264903
47regulation of synapse structural plasticity (GO:0051823)3.94003127
48G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.92569965
49regulation of synaptic transmission, glutamatergic (GO:0051966)3.90528823
50regulation of synaptic plasticity (GO:0048167)3.90108144
51presynaptic membrane organization (GO:0097090)3.89250283
52detection of calcium ion (GO:0005513)3.85681483
53relaxation of cardiac muscle (GO:0055119)3.85382494
54long-term memory (GO:0007616)3.85199063
55amino acid import (GO:0043090)3.84097673
56postsynaptic membrane organization (GO:0001941)3.83614083
57positive regulation of membrane potential (GO:0045838)3.82093482
58behavioral fear response (GO:0001662)3.78547439
59behavioral defense response (GO:0002209)3.78547439
60regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.77766069
61regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.76441989
62behavioral response to cocaine (GO:0048148)3.72828524
63gamma-aminobutyric acid transport (GO:0015812)3.71363664
64regulation of glutamate secretion (GO:0014048)3.70624609
65regulation of dendritic spine morphogenesis (GO:0061001)3.68957773
66positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.67887176
67transmission of nerve impulse (GO:0019226)3.66707605
68negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.66604110
69positive regulation of neurotransmitter secretion (GO:0001956)3.65887984
70neuron recognition (GO:0008038)3.58254324
71fear response (GO:0042596)3.53028227
72positive regulation of neurotransmitter transport (GO:0051590)3.46310697
73striatum development (GO:0021756)3.40672120
74positive regulation of potassium ion transmembrane transport (GO:1901381)3.39787978
75neurotransmitter uptake (GO:0001504)3.39355940
76synaptic transmission, dopaminergic (GO:0001963)3.38442810
77regulation of cell communication by electrical coupling (GO:0010649)3.37820033
78G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.37774862
79neurotransmitter transport (GO:0006836)3.37729698
80central nervous system myelination (GO:0022010)3.37654380
81axon ensheathment in central nervous system (GO:0032291)3.37654380
82auditory behavior (GO:0031223)3.37329937
83negative regulation of amino acid transport (GO:0051956)3.36764157
84cellular potassium ion homeostasis (GO:0030007)3.36524934
85long term synaptic depression (GO:0060292)3.36172291
86regulation of neurotransmitter secretion (GO:0046928)3.35210767
87membrane depolarization (GO:0051899)3.34190798
88cerebellar granule cell differentiation (GO:0021707)3.31457384
89learning (GO:0007612)3.30936445
90startle response (GO:0001964)3.29950605
91dendritic spine morphogenesis (GO:0060997)3.28046496
92primary amino compound metabolic process (GO:1901160)3.25794214
93regulation of dendritic spine development (GO:0060998)3.25216407
94regulation of female receptivity (GO:0045924)3.24914024
95cerebellar Purkinje cell differentiation (GO:0021702)3.24803478
96mechanosensory behavior (GO:0007638)3.24390468
97synaptic vesicle endocytosis (GO:0048488)3.23836244
98regulation of vesicle fusion (GO:0031338)3.23827257
99C4-dicarboxylate transport (GO:0015740)3.21805733
100neuronal ion channel clustering (GO:0045161)3.21506761
101positive regulation of dendritic spine development (GO:0060999)3.20637345
102serotonin metabolic process (GO:0042428)3.19908501
103positive regulation of synaptic transmission (GO:0050806)3.19686826
104negative regulation of cytosolic calcium ion concentration (GO:0051481)3.18920298
105regulation of neurotransmitter transport (GO:0051588)3.18798246
106axonal fasciculation (GO:0007413)3.18621509
107regulation of neurotransmitter levels (GO:0001505)3.18447480
108regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.18201453
109regulation of synapse maturation (GO:0090128)3.16731754
110positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.16322421
111activation of protein kinase A activity (GO:0034199)3.13824839
112regulation of synaptic transmission (GO:0050804)3.13644067
113positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12789269
114female mating behavior (GO:0060180)3.12144176
115* synaptic transmission (GO:0007268)3.12101178
116response to auditory stimulus (GO:0010996)3.11609572
117proline transport (GO:0015824)3.09816301
118membrane hyperpolarization (GO:0060081)3.09342393
119layer formation in cerebral cortex (GO:0021819)3.08530577
120prepulse inhibition (GO:0060134)3.07519332
121acidic amino acid transport (GO:0015800)3.04161650
122neuromuscular process controlling balance (GO:0050885)3.03850683
123regulation of voltage-gated calcium channel activity (GO:1901385)3.03635118
124response to amphetamine (GO:0001975)3.03503468
125negative regulation of dendrite morphogenesis (GO:0050774)3.03493676
126positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.03224524
127membrane depolarization during action potential (GO:0086010)3.01756107
128negative regulation of dendrite development (GO:2000171)3.01453936
129regulation of protein kinase A signaling (GO:0010738)2.97954571

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.14725427
2GBX2_23144817_ChIP-Seq_PC3_Human4.27796507
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.25325935
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17605401
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11812590
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.74631536
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69811548
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69811548
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.69273318
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66221854
11REST_21632747_ChIP-Seq_MESCs_Mouse2.65050967
12* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53893252
13* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52770040
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.48569030
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45236285
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.41710977
17TAF15_26573619_Chip-Seq_HEK293_Human2.38298931
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.36748068
19DROSHA_22980978_ChIP-Seq_HELA_Human2.21433180
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.15539263
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.13518567
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.13492591
23* RNF2_27304074_Chip-Seq_ESCs_Mouse2.09788879
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.09335220
25CTBP1_25329375_ChIP-Seq_LNCAP_Human2.05243023
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.99574123
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99533062
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92569324
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88261979
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87033145
31SMAD4_21799915_ChIP-Seq_A2780_Human1.84386182
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82980708
33AR_21572438_ChIP-Seq_LNCaP_Human1.81317468
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.79989447
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.75314378
36P300_19829295_ChIP-Seq_ESCs_Human1.71024640
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66299612
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.61026121
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55003132
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.52732969
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47368537
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.45669109
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43099321
44AR_25329375_ChIP-Seq_VCAP_Human1.42920222
45FUS_26573619_Chip-Seq_HEK293_Human1.42175402
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.41154722
47BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40767486
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.37425736
49CBX2_27304074_Chip-Seq_ESCs_Mouse1.36351534
50RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.36190880
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35812955
52OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35385306
53* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33287654
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.32287840
55ZNF274_21170338_ChIP-Seq_K562_Hela1.29974751
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28853560
57* STAT3_23295773_ChIP-Seq_U87_Human1.28642994
58TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28194551
59* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26332310
60* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.25898729
61EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.23749292
62VDR_22108803_ChIP-Seq_LS180_Human1.22198038
63MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.21475825
64UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.18844857
65TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18633009
66RING1B_27294783_Chip-Seq_ESCs_Mouse1.17507283
67* TCF4_23295773_ChIP-Seq_U87_Human1.17233167
68AR_19668381_ChIP-Seq_PC3_Human1.16218555
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14794916
70RNF2_27304074_Chip-Seq_NSC_Mouse1.14396897
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.14356734
72CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13449389
73PRDM14_20953172_ChIP-Seq_ESCs_Human1.12342483
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11644672
75RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11203224
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10458066
77RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.09428394
78TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.09314495
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08582889
80JUN_21703547_ChIP-Seq_K562_Human1.08171455
81* RUNX2_22187159_ChIP-Seq_PCA_Human1.07879881
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07291172
83TP53_18474530_ChIP-ChIP_U2OS_Human1.05722595
84AHR_22903824_ChIP-Seq_MCF-7_Human1.05694515
85LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05095155
86ER_23166858_ChIP-Seq_MCF-7_Human1.04641791
87BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.03976066
88TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02872908
89EP300_21415370_ChIP-Seq_HL-1_Mouse1.02859476
90TP53_16413492_ChIP-PET_HCT116_Human1.02407194
91NANOG_18555785_Chip-Seq_ESCs_Mouse1.02303311
92BCAT_22108803_ChIP-Seq_LS180_Human1.02193706
93YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01688668
94CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.00367120
95FLI1_27457419_Chip-Seq_LIVER_Mouse1.00234226
96KDM2B_26808549_Chip-Seq_REH_Human0.99800435
97* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98715022
98DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98597314
99MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98530211
100GATA1_22025678_ChIP-Seq_K562_Human0.98313002
101NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97437066
102RING1B_27294783_Chip-Seq_NPCs_Mouse0.96534298
103FLI1_21867929_ChIP-Seq_TH2_Mouse0.96268228
104CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96133670
105TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.95613826
106RXR_22108803_ChIP-Seq_LS180_Human0.94081640
107CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.93206780
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92271936
109POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92271936
110IGF1R_20145208_ChIP-Seq_DFB_Human0.91684926
111SMAD3_21741376_ChIP-Seq_HESCs_Human0.90976083
112CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90863137
113SOX9_26525672_Chip-Seq_HEART_Mouse0.90104015
114MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89356411
115E2F1_18555785_Chip-Seq_ESCs_Mouse0.89133091

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.43814881
2MP0003880_abnormal_central_pattern5.95192583
3* MP0003635_abnormal_synaptic_transmissio4.29322356
4* MP0009745_abnormal_behavioral_response3.82114536
5MP0002063_abnormal_learning/memory/cond3.56670954
6MP0002822_catalepsy3.55499911
7MP0002064_seizures3.41358665
8MP0009046_muscle_twitch3.31505968
9MP0004270_analgesia3.29653631
10MP0001968_abnormal_touch/_nociception3.14598041
11MP0002572_abnormal_emotion/affect_behav3.00912447
12MP0002272_abnormal_nervous_system2.70601317
13MP0001501_abnormal_sleep_pattern2.66082672
14MP0001486_abnormal_startle_reflex2.57649026
15MP0002736_abnormal_nociception_after2.55924700
16MP0002734_abnormal_mechanical_nocicepti2.27845486
17MP0001440_abnormal_grooming_behavior2.24242718
18MP0005423_abnormal_somatic_nervous2.20208284
19MP0002735_abnormal_chemical_nociception2.10857715
20MP0002067_abnormal_sensory_capabilities2.09291186
21MP0003329_amyloid_beta_deposits1.85857267
22MP0005646_abnormal_pituitary_gland1.85304492
23MP0001529_abnormal_vocalization1.81949691
24MP0003879_abnormal_hair_cell1.80170614
25MP0009780_abnormal_chondrocyte_physiolo1.78750725
26MP0004924_abnormal_behavior1.77342724
27MP0005386_behavior/neurological_phenoty1.77342724
28* MP0001970_abnormal_pain_threshold1.74169560
29* MP0002733_abnormal_thermal_nociception1.72956971
30MP0002557_abnormal_social/conspecific_i1.72829229
31MP0004147_increased_porphyrin_level1.71200904
32MP0002184_abnormal_innervation1.67134502
33MP0001984_abnormal_olfaction1.65711104
34MP0000778_abnormal_nervous_system1.65242939
35MP0002909_abnormal_adrenal_gland1.63390741
36MP0008569_lethality_at_weaning1.62684716
37MP0003787_abnormal_imprinting1.62380333
38MP0006276_abnormal_autonomic_nervous1.52503856
39MP0004811_abnormal_neuron_physiology1.52395319
40MP0001188_hyperpigmentation1.49955752
41MP0001905_abnormal_dopamine_level1.48454888
42MP0002066_abnormal_motor_capabilities/c1.38249057
43MP0000955_abnormal_spinal_cord1.33988597
44MP0004142_abnormal_muscle_tone1.31459764
45MP0003633_abnormal_nervous_system1.28911858
46MP0002882_abnormal_neuron_morphology1.27598670
47MP0001502_abnormal_circadian_rhythm1.27307175
48MP0004858_abnormal_nervous_system1.25867776
49MP0004885_abnormal_endolymph1.24710423
50MP0002837_dystrophic_cardiac_calcinosis1.15786857
51MP0003122_maternal_imprinting1.13720940
52MP0000751_myopathy1.09937574
53MP0003631_nervous_system_phenotype1.09586867
54MP0002876_abnormal_thyroid_physiology1.09110239
55MP0004084_abnormal_cardiac_muscle1.08941924
56MP0008872_abnormal_physiological_respon1.08072178
57MP0002638_abnormal_pupillary_reflex1.05010854
58MP0002152_abnormal_brain_morphology1.00680601
59MP0008877_abnormal_DNA_methylation1.00201889
60MP0008874_decreased_physiological_sensi0.98853709
61MP0005645_abnormal_hypothalamus_physiol0.98545257
62MP0000013_abnormal_adipose_tissue0.95865135
63MP0001348_abnormal_lacrimal_gland0.95208428
64MP0004130_abnormal_muscle_cell0.93499487
65MP0004145_abnormal_muscle_electrophysio0.93009085
66MP0002069_abnormal_eating/drinking_beha0.91324405
67MP0004085_abnormal_heartbeat0.89961174
68MP0005171_absent_coat_pigmentation0.89474014
69MP0001963_abnormal_hearing_physiology0.86642005
70MP0010386_abnormal_urinary_bladder0.86390973
71MP0005535_abnormal_body_temperature0.85639674
72MP0002229_neurodegeneration0.84120241
73MP0004036_abnormal_muscle_relaxation0.83717927
74MP0001485_abnormal_pinna_reflex0.83354004
75MP0004742_abnormal_vestibular_system0.83108889
76MP0001664_abnormal_digestion0.83101083
77MP0000604_amyloidosis0.82952474
78MP0001177_atelectasis0.82511756
79MP0005551_abnormal_eye_electrophysiolog0.81950626
80MP0003075_altered_response_to0.79014508
81MP0001986_abnormal_taste_sensitivity0.78399228
82MP0004484_altered_response_of0.77857476
83MP0004215_abnormal_myocardial_fiber0.74936023
84MP0005409_darkened_coat_color0.74812514
85MP0004233_abnormal_muscle_weight0.74105263
86MP0003123_paternal_imprinting0.73839612
87MP0003632_abnormal_nervous_system0.71376704
88MP0005499_abnormal_olfactory_system0.70148113
89MP0005394_taste/olfaction_phenotype0.70148113
90MP0000631_abnormal_neuroendocrine_gland0.69598107
91MP0001346_abnormal_lacrimal_gland0.64066138
92MP0002752_abnormal_somatic_nervous0.63939473
93MP0003690_abnormal_glial_cell0.62909680
94MP0010234_abnormal_vibrissa_follicle0.62159746
95MP0002090_abnormal_vision0.60851853
96MP0003634_abnormal_glial_cell0.59213086
97MP0000569_abnormal_digit_pigmentation0.58111680
98MP0000579_abnormal_nail_morphology0.57992495
99MP0004043_abnormal_pH_regulation0.57086898
100MP0003137_abnormal_impulse_conducting0.54575210
101MP0005167_abnormal_blood-brain_barrier0.54446504
102MP0001765_abnormal_ion_homeostasis0.54286224
103MP0000920_abnormal_myelination0.54189558
104MP0010768_mortality/aging0.54123899
105MP0005620_abnormal_muscle_contractility0.53758267
106MP0000026_abnormal_inner_ear0.53169754
107MP0001943_abnormal_respiration0.52559285
108MP0001299_abnormal_eye_distance/0.51692502
109MP0004510_myositis0.51100558
110MP0003956_abnormal_body_size0.48339315
111MP0005623_abnormal_meninges_morphology0.47794784
112MP0010770_preweaning_lethality0.47342625
113MP0002082_postnatal_lethality0.47342625
114MP0010769_abnormal_survival0.47031327
115MP0008961_abnormal_basal_metabolism0.46015075

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.71510174
2Focal seizures (HP:0007359)6.19894595
3Myokymia (HP:0002411)6.14156044
4Epileptic encephalopathy (HP:0200134)5.97803260
5Atonic seizures (HP:0010819)5.84805678
6Febrile seizures (HP:0002373)5.08693728
7Hyperventilation (HP:0002883)4.99418031
8Absence seizures (HP:0002121)4.86633529
9Visual hallucinations (HP:0002367)4.80627428
10Dialeptic seizures (HP:0011146)4.57509677
11Generalized tonic-clonic seizures (HP:0002069)4.23604742
12Broad-based gait (HP:0002136)4.12045343
13Progressive cerebellar ataxia (HP:0002073)3.97800023
14Gaze-evoked nystagmus (HP:0000640)3.74935871
15Poor eye contact (HP:0000817)3.57474630
16Amblyopia (HP:0000646)3.45579971
17Dysdiadochokinesis (HP:0002075)3.36316047
18Impaired vibration sensation in the lower limbs (HP:0002166)3.22089560
19Abnormal social behavior (HP:0012433)3.19453706
20Impaired social interactions (HP:0000735)3.19453706
21Truncal ataxia (HP:0002078)3.09362399
22Dysmetria (HP:0001310)3.05663672
23Epileptiform EEG discharges (HP:0011182)3.05071553
24Abnormal eating behavior (HP:0100738)2.95560190
25Syncope (HP:0001279)2.95086535
26Excessive salivation (HP:0003781)2.93862620
27Drooling (HP:0002307)2.93862620
28Anxiety (HP:0000739)2.91525321
29Bundle branch block (HP:0011710)2.89130549
30Obstructive sleep apnea (HP:0002870)2.88256535
31Scanning speech (HP:0002168)2.87813449
32Depression (HP:0000716)2.82885591
33Action tremor (HP:0002345)2.82518042
34Dysmetric saccades (HP:0000641)2.79372048
35Progressive inability to walk (HP:0002505)2.74452190
36Urinary bladder sphincter dysfunction (HP:0002839)2.73891176
37Impaired smooth pursuit (HP:0007772)2.68262356
38Stereotypic behavior (HP:0000733)2.67846962
39EEG with generalized epileptiform discharges (HP:0011198)2.65397364
40Inability to walk (HP:0002540)2.62644490
41Cerebral inclusion bodies (HP:0100314)2.57860002
42Supranuclear gaze palsy (HP:0000605)2.57518612
43Status epilepticus (HP:0002133)2.57354842
44Absent speech (HP:0001344)2.55454639
45Protruding tongue (HP:0010808)2.55215099
46Sudden death (HP:0001699)2.55146439
47Postural instability (HP:0002172)2.49928313
48Fetal akinesia sequence (HP:0001989)2.46834030
49Genetic anticipation (HP:0003743)2.46281767
50Ankle clonus (HP:0011448)2.44700600
51Hemiparesis (HP:0001269)2.44677012
52Abnormality of binocular vision (HP:0011514)2.42917940
53Diplopia (HP:0000651)2.42917940
54Hypsarrhythmia (HP:0002521)2.40526388
55Annular pancreas (HP:0001734)2.35154735
56Bradykinesia (HP:0002067)2.34966272
57Torticollis (HP:0000473)2.34375761
58Generalized myoclonic seizures (HP:0002123)2.32062794
59Neurofibrillary tangles (HP:0002185)2.31035657
60Ventricular fibrillation (HP:0001663)2.30343582
61Resting tremor (HP:0002322)2.28051953
62Impaired vibratory sensation (HP:0002495)2.27334439
63Sleep apnea (HP:0010535)2.26829267
64Urinary urgency (HP:0000012)2.26808211
65Prolonged QT interval (HP:0001657)2.26519466
66Blue irides (HP:0000635)2.25899842
67Abnormality of the lower motor neuron (HP:0002366)2.25618270
68Tetraplegia (HP:0002445)2.23164244
69Focal dystonia (HP:0004373)2.23147640
70Gait imbalance (HP:0002141)2.21668924
71Abnormality of ocular smooth pursuit (HP:0000617)2.21135133
72Primary atrial arrhythmia (HP:0001692)2.20196251
73Degeneration of the lateral corticospinal tracts (HP:0002314)2.19967925
74Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.19967925
75Insidious onset (HP:0003587)2.18681073
76Termporal pattern (HP:0011008)2.18681073
77Akinesia (HP:0002304)2.18369230
78Abnormal EKG (HP:0003115)2.15202011
79Polyphagia (HP:0002591)2.14784196
80Cerebral hypomyelination (HP:0006808)2.13840122
81Atrial fibrillation (HP:0005110)2.12788528
82Mutism (HP:0002300)2.12728264
83Morphological abnormality of the pyramidal tract (HP:0002062)2.11307485
84Heart block (HP:0012722)2.10518285
85Spastic gait (HP:0002064)2.09635049
86Supraventricular tachycardia (HP:0004755)2.08256348
87Incomplete penetrance (HP:0003829)2.07992522
88Hemiplegia (HP:0002301)2.05075698
89Pheochromocytoma (HP:0002666)2.04142311
90Neuronal loss in central nervous system (HP:0002529)2.04104782
91Clonus (HP:0002169)2.03962015
92Limb dystonia (HP:0002451)2.02680470
93Supraventricular arrhythmia (HP:0005115)2.00405326
94Thickened helices (HP:0000391)1.99509990
95Spastic tetraparesis (HP:0001285)1.97581066
96Craniofacial dystonia (HP:0012179)1.97308945
97Congenital primary aphakia (HP:0007707)1.97115026
98Gait ataxia (HP:0002066)1.95461533
99Abnormality of salivation (HP:0100755)1.94856867
100Delusions (HP:0000746)1.91044222
101Papilledema (HP:0001085)1.90105497
102Agnosia (HP:0010524)1.87352205
103Lower limb muscle weakness (HP:0007340)1.86787361
104Medial flaring of the eyebrow (HP:0010747)1.86336524
105Increased circulating renin level (HP:0000848)1.86072756
106Rigidity (HP:0002063)1.82521798
107Intention tremor (HP:0002080)1.82140104
108Neuroendocrine neoplasm (HP:0100634)1.81708961
109Spastic tetraplegia (HP:0002510)1.81589400
110Specific learning disability (HP:0001328)1.81489014
111Fair hair (HP:0002286)1.81091015
112Generalized hypopigmentation of hair (HP:0011358)1.80907239
113Nephrogenic diabetes insipidus (HP:0009806)1.80840183
114Abnormal hair whorl (HP:0010721)1.79055634
115Lower limb amyotrophy (HP:0007210)1.77108433
116Lower limb asymmetry (HP:0100559)1.76370499
117Abnormality of the corticospinal tract (HP:0002492)1.75464271
118Psychosis (HP:0000709)1.71977903
119Hyperthyroidism (HP:0000836)1.71712287
120Abnormality of saccadic eye movements (HP:0000570)1.70884078
121Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.68663340
122Deeply set eye (HP:0000490)1.67800251
123Ankyloglossia (HP:0010296)1.66679607
124Absent/shortened dynein arms (HP:0200106)1.64379470
125Dynein arm defect of respiratory motile cilia (HP:0012255)1.64379470
126Dyskinesia (HP:0100660)1.63714943

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.82466169
2NTRK34.78430562
3CASK3.80550026
4MAP3K93.27141177
5DAPK22.83863085
6MAP3K42.81485117
7RIPK42.75730926
8MAP2K72.69160814
9MAP3K122.31124112
10MINK12.17456134
11DAPK12.08851749
12PLK22.05741343
13KSR21.96418877
14MAP2K41.85898865
15KSR11.78541732
16MARK11.77834812
17CDK191.72907475
18TNIK1.68353195
19NTRK21.68331471
20PRPF4B1.68054532
21ARAF1.66037702
22FRK1.56210440
23PAK61.49877564
24MAP3K131.49409489
25NTRK11.43656130
26CDK51.41125019
27CAMKK11.32940228
28GRK51.30517558
29BMPR21.27661321
30FES1.26925491
31PNCK1.24261255
32PRKCG1.20950246
33CCNB11.19054166
34SIK21.15984795
35CAMKK21.15972254
36CAMK2A1.15606569
37MAPK131.13946918
38CAMK2B1.13304144
39PTK2B1.10642687
40PRKD31.10523893
41RAF11.05483471
42AKT31.04987858
43NME11.04958233
44OXSR11.04282702
45MAP3K20.88258054
46SGK2230.86706283
47SGK4940.86706283
48CDK180.86095803
49SIK30.85871560
50SGK20.85539488
51STK380.83992236
52CDK150.80818372
53CDK140.78443873
54SGK10.76763777
55BRAF0.74506962
56CAMK10.74244562
57PIK3CA0.69820251
58CDK11A0.69425629
59WNK10.67360250
60UHMK10.66478883
61MARK20.65136819
62FGR0.64327979
63DYRK1A0.63718306
64PRKCE0.62206213
65PINK10.59834824
66TYRO30.59273447
67STK110.59244041
68PKN10.58084740
69CSNK1G20.57629060
70MAPKAPK50.57005636
71PDK10.56372696
72PRKCH0.55782983
73SGK30.55687626
74PDPK10.55000067
75CAMK2D0.53919171
76MAP3K10.53188148
77DAPK30.53061366
78MAP2K10.48796315
79TNK20.48209444
80TAOK10.47119304
81STK390.45827164
82RET0.45808271
83CAMK2G0.45763899
84ALK0.45106968
85MAP3K110.43781862
86PDK40.43549679
87PDK30.43549679
88MUSK0.43041119
89INSRR0.42857962
90CSNK1D0.41705135
91RPS6KA30.41574807
92MAPK120.40983798
93PRKCA0.40909710
94NEK60.39626282
95FER0.39500782
96PRKG10.39147973
97DMPK0.38892399
98GRK70.38823914
99BCR0.38572429
100PRKCZ0.37898887
101PRKCB0.37048669
102WNK30.36970669
103PHKG10.36426643
104PHKG20.36426643
105FYN0.36170909
106LATS20.34891480
107MAP3K60.34225734
108ADRBK20.33976741
109MOS0.33829771
110CAMK40.33702132
111PRKACA0.33645632
112MAP3K70.33419280
113MAPK70.33088800
114PAK30.33086992
115MAPK100.31072628
116ROCK20.30657519
117LIMK10.30464669
118CSNK1A10.29273337
119PRKACB0.28493608
120CSNK1E0.28014491

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.13479428
2Synaptic vesicle cycle_Homo sapiens_hsa047213.38119251
3Long-term potentiation_Homo sapiens_hsa047202.99369242
4* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.91769773
5Circadian entrainment_Homo sapiens_hsa047132.86434530
6Amphetamine addiction_Homo sapiens_hsa050312.77485918
7Olfactory transduction_Homo sapiens_hsa047402.76068534
8* GABAergic synapse_Homo sapiens_hsa047272.71755946
9Glutamatergic synapse_Homo sapiens_hsa047242.68317030
10* Morphine addiction_Homo sapiens_hsa050322.67538702
11Salivary secretion_Homo sapiens_hsa049702.31942919
12Dopaminergic synapse_Homo sapiens_hsa047282.28494377
13Collecting duct acid secretion_Homo sapiens_hsa049662.22395087
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.92736185
15Renin secretion_Homo sapiens_hsa049241.92105045
16Insulin secretion_Homo sapiens_hsa049111.91748383
17Calcium signaling pathway_Homo sapiens_hsa040201.81586577
18Long-term depression_Homo sapiens_hsa047301.81157912
19* Taste transduction_Homo sapiens_hsa047421.80751582
20Gastric acid secretion_Homo sapiens_hsa049711.78220534
21Cocaine addiction_Homo sapiens_hsa050301.77833814
22Serotonergic synapse_Homo sapiens_hsa047261.77704537
23Cholinergic synapse_Homo sapiens_hsa047251.76927140
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.72811280
25Oxytocin signaling pathway_Homo sapiens_hsa049211.71709845
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.54166588
27Vibrio cholerae infection_Homo sapiens_hsa051101.35036017
28GnRH signaling pathway_Homo sapiens_hsa049121.34497770
29* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.33769047
30Gap junction_Homo sapiens_hsa045401.30039381
31cAMP signaling pathway_Homo sapiens_hsa040241.29996488
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22762745
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.16301641
34Pancreatic secretion_Homo sapiens_hsa049721.15022278
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.10915515
36Cardiac muscle contraction_Homo sapiens_hsa042601.10193850
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09398747
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09138778
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07885399
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06861455
41Estrogen signaling pathway_Homo sapiens_hsa049151.04485776
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.99938722
43Axon guidance_Homo sapiens_hsa043600.98589394
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.98190400
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96518582
46Melanogenesis_Homo sapiens_hsa049160.95770305
47Oxidative phosphorylation_Homo sapiens_hsa001900.94951816
48Glioma_Homo sapiens_hsa052140.92258587
49Alzheimers disease_Homo sapiens_hsa050100.91241985
50Phototransduction_Homo sapiens_hsa047440.90457587
51Type II diabetes mellitus_Homo sapiens_hsa049300.88403440
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.84505641
53Vitamin B6 metabolism_Homo sapiens_hsa007500.83775394
54ErbB signaling pathway_Homo sapiens_hsa040120.83051131
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77275242
56Oocyte meiosis_Homo sapiens_hsa041140.76677519
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.68124017
58Dilated cardiomyopathy_Homo sapiens_hsa054140.67192097
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66775588
60Thyroid hormone synthesis_Homo sapiens_hsa049180.66596584
61Parkinsons disease_Homo sapiens_hsa050120.64339319
62Mineral absorption_Homo sapiens_hsa049780.62909849
63MAPK signaling pathway_Homo sapiens_hsa040100.62107873
64Type I diabetes mellitus_Homo sapiens_hsa049400.61433833
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59782190
66Circadian rhythm_Homo sapiens_hsa047100.58859712
67Dorso-ventral axis formation_Homo sapiens_hsa043200.58112560
68Choline metabolism in cancer_Homo sapiens_hsa052310.56862799
69Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56607854
70Glucagon signaling pathway_Homo sapiens_hsa049220.56303132
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55113069
72African trypanosomiasis_Homo sapiens_hsa051430.54835314
73Rap1 signaling pathway_Homo sapiens_hsa040150.50230038
74Ras signaling pathway_Homo sapiens_hsa040140.49771841
75VEGF signaling pathway_Homo sapiens_hsa043700.48928756
76Rheumatoid arthritis_Homo sapiens_hsa053230.48359935
77Fatty acid biosynthesis_Homo sapiens_hsa000610.47686609
78Alcoholism_Homo sapiens_hsa050340.47220205
79Inositol phosphate metabolism_Homo sapiens_hsa005620.46956360
80Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43226650
81Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41552990
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.39122299
83Huntingtons disease_Homo sapiens_hsa050160.37875968
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36804338
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36102649
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34917738
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34180034
88Nitrogen metabolism_Homo sapiens_hsa009100.34136153
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.33176962
90Wnt signaling pathway_Homo sapiens_hsa043100.31737297
91Regulation of autophagy_Homo sapiens_hsa041400.31171980
92Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.30961495
93Bile secretion_Homo sapiens_hsa049760.30678726
94Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29903571
95Histidine metabolism_Homo sapiens_hsa003400.29498705
96Prion diseases_Homo sapiens_hsa050200.28767193
97Ether lipid metabolism_Homo sapiens_hsa005650.28505505
98Non-small cell lung cancer_Homo sapiens_hsa052230.28124720
99Butanoate metabolism_Homo sapiens_hsa006500.26538950
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26487002
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26384892
102Ovarian steroidogenesis_Homo sapiens_hsa049130.24997728
103SNARE interactions in vesicular transport_Homo sapiens_hsa041300.22668024
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.21626943
105Arginine biosynthesis_Homo sapiens_hsa002200.20984933
106Chemokine signaling pathway_Homo sapiens_hsa040620.19458568
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.19411028
108mTOR signaling pathway_Homo sapiens_hsa041500.18809192
109Longevity regulating pathway - mammal_Homo sapiens_hsa042110.18770397
110Arginine and proline metabolism_Homo sapiens_hsa003300.18346395
111Insulin signaling pathway_Homo sapiens_hsa049100.18341703
112Tight junction_Homo sapiens_hsa045300.17451371
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.14149371
114Endocytosis_Homo sapiens_hsa041440.13968046

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