GABBR1

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 receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.98678226
2synaptic vesicle maturation (GO:0016188)5.59121138
3locomotory exploration behavior (GO:0035641)5.58877904
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.50822777
5vocalization behavior (GO:0071625)5.48595524
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.41034686
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.18343456
8synaptic vesicle exocytosis (GO:0016079)5.10014841
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.98268082
10glutamate secretion (GO:0014047)4.85679279
11neuron cell-cell adhesion (GO:0007158)4.83593880
12regulation of glutamate receptor signaling pathway (GO:1900449)4.81633054
13amino acid import (GO:0043090)4.77507228
14regulation of synaptic vesicle exocytosis (GO:2000300)4.73611310
15protein localization to synapse (GO:0035418)4.66892592
16neuronal action potential propagation (GO:0019227)4.61096978
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.48458881
18exploration behavior (GO:0035640)4.46697560
19glutamate receptor signaling pathway (GO:0007215)4.45052253
20layer formation in cerebral cortex (GO:0021819)4.44866686
21neurotransmitter secretion (GO:0007269)4.41227801
22gamma-aminobutyric acid transport (GO:0015812)4.36457948
23regulation of neuronal synaptic plasticity (GO:0048168)4.35033143
24potassium ion homeostasis (GO:0055075)4.30928811
25synaptic transmission, glutamatergic (GO:0035249)4.25125106
26regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.24810828
27regulation of synapse structural plasticity (GO:0051823)4.24498672
28regulation of synaptic vesicle transport (GO:1902803)4.23562935
29dendritic spine morphogenesis (GO:0060997)4.16251263
30potassium ion import (GO:0010107)4.16149626
31synaptic vesicle docking involved in exocytosis (GO:0016081)4.15418860
32axon ensheathment in central nervous system (GO:0032291)4.12812720
33central nervous system myelination (GO:0022010)4.12812720
34neuron-neuron synaptic transmission (GO:0007270)4.06535988
35regulation of ARF protein signal transduction (GO:0032012)4.02191856
36cellular potassium ion homeostasis (GO:0030007)4.00645744
37long-term memory (GO:0007616)3.95937471
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.92821278
39transmission of nerve impulse (GO:0019226)3.84335295
40neuron recognition (GO:0008038)3.82668437
41neurotransmitter-gated ion channel clustering (GO:0072578)3.81550833
42membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.80742642
43regulation of excitatory postsynaptic membrane potential (GO:0060079)3.79120846
44proline transport (GO:0015824)3.78870250
45cellular sodium ion homeostasis (GO:0006883)3.72276397
46positive regulation of membrane potential (GO:0045838)3.69957835
47neurotransmitter transport (GO:0006836)3.68947498
48regulation of voltage-gated calcium channel activity (GO:1901385)3.65491975
49sodium ion export (GO:0071436)3.63696421
50regulation of dendritic spine morphogenesis (GO:0061001)3.63293923
51regulation of postsynaptic membrane potential (GO:0060078)3.62606959
52regulation of synapse maturation (GO:0090128)3.61553193
53prepulse inhibition (GO:0060134)3.53099043
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.52760234
55neuromuscular process controlling balance (GO:0050885)3.50639566
56axonal fasciculation (GO:0007413)3.49516428
57positive regulation of dendritic spine morphogenesis (GO:0061003)3.48505312
58regulation of synaptic plasticity (GO:0048167)3.48434622
59auditory behavior (GO:0031223)3.46838114
60positive regulation of synaptic transmission, GABAergic (GO:0032230)3.45526202
61regulation of neurotransmitter levels (GO:0001505)3.44834394
62positive regulation of synapse maturation (GO:0090129)3.44350001
63positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.43794296
64neurotransmitter uptake (GO:0001504)3.43617340
65activation of protein kinase A activity (GO:0034199)3.42796201
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.39621463
67negative regulation of synaptic transmission, GABAergic (GO:0032229)3.38979876
68acidic amino acid transport (GO:0015800)3.38906092
69G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.37738092
70cerebellar Purkinje cell differentiation (GO:0021702)3.36322722
71negative regulation of dendrite morphogenesis (GO:0050774)3.35287166
72postsynaptic membrane organization (GO:0001941)3.35069101
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.33718489
74synaptic vesicle endocytosis (GO:0048488)3.33665708
75mating behavior (GO:0007617)3.32283576
76* gamma-aminobutyric acid signaling pathway (GO:0007214)3.30286209
77response to auditory stimulus (GO:0010996)3.30092776
78neuromuscular process controlling posture (GO:0050884)3.29759801
79regulation of vesicle fusion (GO:0031338)3.28257077
80long-term synaptic potentiation (GO:0060291)3.28050800
81dendrite morphogenesis (GO:0048813)3.27077150
82regulation of neurotransmitter secretion (GO:0046928)3.26785351
83glycine transport (GO:0015816)3.24669656
84neuronal ion channel clustering (GO:0045161)3.23659302
85cerebellar Purkinje cell layer development (GO:0021680)3.22200456
86cell differentiation in hindbrain (GO:0021533)3.17721056
87membrane depolarization (GO:0051899)3.17687378
88cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14970704
89membrane depolarization during action potential (GO:0086010)3.14359411
90positive regulation of dendritic spine development (GO:0060999)3.13012312
91synapse assembly (GO:0007416)3.12798692
92G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.11874521
93regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11543397
94presynaptic membrane assembly (GO:0097105)3.11469497
95membrane hyperpolarization (GO:0060081)3.10928341
96learning (GO:0007612)3.10809137
97regulation of dendritic spine development (GO:0060998)3.10749539
98response to histamine (GO:0034776)3.10296212
99cerebellar granule cell differentiation (GO:0021707)3.08399950
100regulation of neurotransmitter transport (GO:0051588)3.07259030
101cell communication involved in cardiac conduction (GO:0086065)3.04174517
102behavioral fear response (GO:0001662)3.03870117
103behavioral defense response (GO:0002209)3.03870117
104negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.02489190
105cytoskeletal anchoring at plasma membrane (GO:0007016)3.02331860
106cell communication by electrical coupling (GO:0010644)3.02066137
107adult walking behavior (GO:0007628)3.01497440
108vesicle transport along microtubule (GO:0047496)3.00826895
109establishment of mitochondrion localization (GO:0051654)3.00384308
110presynaptic membrane organization (GO:0097090)2.99661084
111positive regulation of neurotransmitter secretion (GO:0001956)2.99346269
112L-amino acid import (GO:0043092)2.98773256
113neuromuscular process (GO:0050905)2.98242107
114positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.98108206
115positive regulation of neurotransmitter transport (GO:0051590)2.98047235
116social behavior (GO:0035176)2.97592113
117intraspecies interaction between organisms (GO:0051703)2.97592113
118innervation (GO:0060384)2.96706171
119negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.95188073
120regulation of synaptic transmission (GO:0050804)2.94726895
121dendritic spine organization (GO:0097061)2.94039427
122L-glutamate transport (GO:0015813)2.93673991

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.12307458
2GBX2_23144817_ChIP-Seq_PC3_Human3.38385940
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15497276
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12984455
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.12759888
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.77770449
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.77770449
8REST_21632747_ChIP-Seq_MESCs_Mouse2.69935889
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67397525
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.66061869
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63215329
12RARB_27405468_Chip-Seq_BRAIN_Mouse2.57926506
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56799716
14DROSHA_22980978_ChIP-Seq_HELA_Human2.54612509
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.54420533
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53084607
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53065289
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.51594867
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.31144047
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29372401
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.28324532
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.20759334
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.16613056
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.06650897
25* IKZF1_21737484_ChIP-ChIP_HCT116_Human2.00872566
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.97139245
27AR_21572438_ChIP-Seq_LNCaP_Human1.90834739
28RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.88802452
29* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.82875641
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.82864807
31* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.78665091
32* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.76964279
33TAF15_26573619_Chip-Seq_HEK293_Human1.73897133
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.72540352
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61520843
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.60882274
37ZFP281_27345836_Chip-Seq_ESCs_Mouse1.58893592
38SMAD4_21799915_ChIP-Seq_A2780_Human1.57810686
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56950042
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43102336
41SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.41354837
42ZNF274_21170338_ChIP-Seq_K562_Hela1.41112838
43KDM2B_26808549_Chip-Seq_SUP-B15_Human1.38727565
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.36750490
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35139217
46ZFP57_27257070_Chip-Seq_ESCs_Mouse1.33622146
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30804180
48P300_19829295_ChIP-Seq_ESCs_Human1.29436112
49SOX2_21211035_ChIP-Seq_LN229_Gbm1.27870842
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.27638954
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.26623958
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25719328
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.24316063
54* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.23497024
55EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.23379578
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.20995659
57STAT3_23295773_ChIP-Seq_U87_Human1.20501368
58TET1_21490601_ChIP-Seq_MESCs_Mouse1.20492066
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.20287764
60AR_19668381_ChIP-Seq_PC3_Human1.20120928
61AR_25329375_ChIP-Seq_VCAP_Human1.17966069
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17186396
63OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.16983000
64WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16717096
65GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16688365
66CTCF_27219007_Chip-Seq_Bcells_Human1.16339140
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15825573
68RING1B_27294783_Chip-Seq_NPCs_Mouse1.15662463
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15625489
70CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.15594956
71BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14975005
72TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14400326
73LXR_22292898_ChIP-Seq_THP-1_Human1.11760547
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10725140
75SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10717107
76PIAS1_25552417_ChIP-Seq_VCAP_Human1.10464103
77KDM2B_26808549_Chip-Seq_K562_Human1.06664626
78* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.06384999
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05888609
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04681831
81TCF4_23295773_ChIP-Seq_U87_Human1.04201430
82ARNT_22903824_ChIP-Seq_MCF-7_Human1.03798759
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03607674
84ESR2_21235772_ChIP-Seq_MCF-7_Human1.03589730
85TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03116645
86GATA1_26923725_Chip-Seq_HPCs_Mouse1.02568743
87IGF1R_20145208_ChIP-Seq_DFB_Human1.02008335
88CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01448393
89RNF2_27304074_Chip-Seq_NSC_Mouse1.01327186
90KDM2B_26808549_Chip-Seq_DND41_Human1.01225150
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00996859
92DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00937479
93TP53_16413492_ChIP-PET_HCT116_Human1.00534255
94AHR_22903824_ChIP-Seq_MCF-7_Human1.00141860
95* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.98699131
96ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.98470224
97* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97559822
98NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97077033
99RUNX2_22187159_ChIP-Seq_PCA_Human0.96680662
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95999569
101SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95950113
102SMAD3_21741376_ChIP-Seq_ESCs_Human0.93990116
103PRDM14_20953172_ChIP-Seq_ESCs_Human0.93343225
104OCT4_19829295_ChIP-Seq_ESCs_Human0.92952606
105TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92900573
106UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92807386
107TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91906159
108POU3F2_20337985_ChIP-ChIP_501MEL_Human0.91173763
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.90865851
110ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.90634337
111SMC4_20622854_ChIP-Seq_HELA_Human0.90342213
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.89349867
113TP53_20018659_ChIP-ChIP_R1E_Mouse0.89325004
114GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88958630
115PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88556532
116VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88509320
117* DPY_21335234_ChIP-Seq_ESCs_Mouse0.87528338
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86984164
119* KDM2B_26808549_Chip-Seq_JURKAT_Human0.86668482
120FUS_26573619_Chip-Seq_HEK293_Human0.86190863
121POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.85023988
122TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85023988
123KLF4_19829295_ChIP-Seq_ESCs_Human0.84733874
124RXR_22108803_ChIP-Seq_LS180_Human0.83575268
125CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82978954
126PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.82875672
127ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.79552587
128SRY_22984422_ChIP-ChIP_TESTIS_Rat0.77286017
129PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.76586660
130RUNX1_26923725_Chip-Seq_HPCs_Mouse0.76342820
131SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.75765328
132TP53_23651856_ChIP-Seq_MEFs_Mouse0.75480986
133* CREB1_26743006_Chip-Seq_LNCaP_Human0.74568076
134LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74407742

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.39069112
2MP0003880_abnormal_central_pattern5.08839001
3* MP0003635_abnormal_synaptic_transmissio4.22033709
4MP0004270_analgesia3.73942885
5* MP0009745_abnormal_behavioral_response3.47317060
6* MP0002063_abnormal_learning/memory/cond3.30644797
7MP0009046_muscle_twitch3.26475362
8* MP0002064_seizures3.20633189
9MP0005423_abnormal_somatic_nervous3.10222581
10MP0001968_abnormal_touch/_nociception3.02222456
11MP0002822_catalepsy2.92216587
12* MP0002572_abnormal_emotion/affect_behav2.79794833
13MP0001486_abnormal_startle_reflex2.71010782
14* MP0002272_abnormal_nervous_system2.67266625
15* MP0002734_abnormal_mechanical_nocicepti2.48179029
16MP0002736_abnormal_nociception_after2.31015131
17MP0001440_abnormal_grooming_behavior2.27285567
18MP0002735_abnormal_chemical_nociception2.15019159
19* MP0001501_abnormal_sleep_pattern2.08298493
20MP0002067_abnormal_sensory_capabilities2.03626090
21* MP0002733_abnormal_thermal_nociception2.00779283
22MP0003329_amyloid_beta_deposits1.98265044
23MP0008569_lethality_at_weaning1.96854109
24* MP0001970_abnormal_pain_threshold1.95374236
25MP0000778_abnormal_nervous_system1.88857386
26MP0002184_abnormal_innervation1.86292532
27MP0005386_behavior/neurological_phenoty1.83435605
28MP0004924_abnormal_behavior1.83435605
29MP0006276_abnormal_autonomic_nervous1.81812589
30MP0002557_abnormal_social/conspecific_i1.79778398
31MP0004858_abnormal_nervous_system1.76320310
32MP0009780_abnormal_chondrocyte_physiolo1.72386415
33MP0002909_abnormal_adrenal_gland1.67550798
34MP0004811_abnormal_neuron_physiology1.67462259
35MP0004885_abnormal_endolymph1.66290751
36MP0000955_abnormal_spinal_cord1.61986013
37MP0001529_abnormal_vocalization1.58524154
38MP0005646_abnormal_pituitary_gland1.50704869
39* MP0002066_abnormal_motor_capabilities/c1.46533464
40* MP0002882_abnormal_neuron_morphology1.43627593
41MP0004142_abnormal_muscle_tone1.41674805
42MP0001905_abnormal_dopamine_level1.40920813
43MP0001984_abnormal_olfaction1.39159463
44MP0003633_abnormal_nervous_system1.37205944
45MP0003879_abnormal_hair_cell1.34590460
46MP0005645_abnormal_hypothalamus_physiol1.32395009
47MP0001502_abnormal_circadian_rhythm1.28949447
48MP0003787_abnormal_imprinting1.23520676
49MP0003122_maternal_imprinting1.19130191
50MP0003631_nervous_system_phenotype1.18551718
51MP0002152_abnormal_brain_morphology1.14735232
52MP0003123_paternal_imprinting1.14325355
53MP0004145_abnormal_muscle_electrophysio1.12061855
54MP0001188_hyperpigmentation1.11110413
55MP0004742_abnormal_vestibular_system1.09879498
56MP0003690_abnormal_glial_cell1.06485532
57MP0008872_abnormal_physiological_respon1.06430106
58MP0002229_neurodegeneration1.04449752
59MP0000751_myopathy0.99688229
60* MP0000920_abnormal_myelination0.98364316
61MP0003634_abnormal_glial_cell0.96852584
62MP0001177_atelectasis0.96431308
63MP0005409_darkened_coat_color0.96108182
64MP0003172_abnormal_lysosome_physiology0.95713022
65MP0002069_abnormal_eating/drinking_beha0.93199713
66MP0005551_abnormal_eye_electrophysiolog0.92899859
67MP0001986_abnormal_taste_sensitivity0.91849104
68MP0003632_abnormal_nervous_system0.91575596
69MP0001348_abnormal_lacrimal_gland0.87285369
70MP0003283_abnormal_digestive_organ0.86655055
71MP0000604_amyloidosis0.86262612
72MP0000013_abnormal_adipose_tissue0.85713135
73* MP0008874_decreased_physiological_sensi0.83912613
74MP0001963_abnormal_hearing_physiology0.83392545
75MP0004085_abnormal_heartbeat0.83374815
76MP0010386_abnormal_urinary_bladder0.81594923
77MP0000569_abnormal_digit_pigmentation0.80907154
78MP0003075_altered_response_to0.79760676
79MP0008961_abnormal_basal_metabolism0.78584579
80* MP0002752_abnormal_somatic_nervous0.77052149
81MP0000631_abnormal_neuroendocrine_gland0.76951779
82MP0001485_abnormal_pinna_reflex0.76901856
83* MP0005535_abnormal_body_temperature0.73488684
84MP0005499_abnormal_olfactory_system0.72962438
85MP0005394_taste/olfaction_phenotype0.72962438
86MP0000579_abnormal_nail_morphology0.72866172
87MP0004130_abnormal_muscle_cell0.71954136
88MP0003137_abnormal_impulse_conducting0.71019968
89MP0002090_abnormal_vision0.70581115
90MP0002249_abnormal_larynx_morphology0.70073927
91MP0005623_abnormal_meninges_morphology0.69709988
92MP0005167_abnormal_blood-brain_barrier0.66601856
93MP0001664_abnormal_digestion0.66180005
94MP0001299_abnormal_eye_distance/0.65270864
95MP0002837_dystrophic_cardiac_calcinosis0.64026554
96MP0004215_abnormal_myocardial_fiber0.63516789
97MP0001346_abnormal_lacrimal_gland0.63048331
98MP0004484_altered_response_of0.62160384
99MP0000026_abnormal_inner_ear0.59840335
100MP0003861_abnormal_nervous_system0.59329190
101MP0001943_abnormal_respiration0.59251582
102MP0002653_abnormal_ependyma_morphology0.58492680
103* MP0010768_mortality/aging0.57868887
104MP0002638_abnormal_pupillary_reflex0.57682534
105MP0003938_abnormal_ear_development0.55949568
106MP0004147_increased_porphyrin_level0.55717920
107MP0004510_myositis0.55617970
108MP0004233_abnormal_muscle_weight0.54666526
109* MP0010769_abnormal_survival0.54194836
110MP0006072_abnormal_retinal_apoptosis0.53210691
111MP0000747_muscle_weakness0.53069258
112* MP0002082_postnatal_lethality0.52247336
113* MP0010770_preweaning_lethality0.52247336
114MP0003121_genomic_imprinting0.52238280
115MP0002133_abnormal_respiratory_system0.51125091
116MP0005388_respiratory_system_phenotype0.51125091
117MP0003183_abnormal_peptide_metabolism0.48620943
118* MP0003956_abnormal_body_size0.48250559
119MP0008877_abnormal_DNA_methylation0.48023954

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.59677030
2Myokymia (HP:0002411)6.74836344
3Focal seizures (HP:0007359)5.79572496
4Visual hallucinations (HP:0002367)5.37366955
5Atonic seizures (HP:0010819)4.54640473
6Epileptic encephalopathy (HP:0200134)4.48217785
7Progressive cerebellar ataxia (HP:0002073)4.39905268
8Absence seizures (HP:0002121)4.19491536
9Febrile seizures (HP:0002373)4.15427195
10Action tremor (HP:0002345)4.07702169
11Supranuclear gaze palsy (HP:0000605)4.02221542
12Generalized tonic-clonic seizures (HP:0002069)3.88721524
13Dialeptic seizures (HP:0011146)3.82233336
14Broad-based gait (HP:0002136)3.71778796
15Ankle clonus (HP:0011448)3.42203492
16Dysdiadochokinesis (HP:0002075)3.36062872
17Poor eye contact (HP:0000817)3.34950997
18Gaze-evoked nystagmus (HP:0000640)3.33250125
19Neurofibrillary tangles (HP:0002185)3.30071404
20Dysmetria (HP:0001310)3.30009592
21Depression (HP:0000716)3.21041603
22Mutism (HP:0002300)3.19433461
23Cerebral inclusion bodies (HP:0100314)3.13924146
24Impaired vibration sensation in the lower limbs (HP:0002166)3.10689914
25Truncal ataxia (HP:0002078)3.07874796
26Impaired social interactions (HP:0000735)3.06371986
27Abnormal social behavior (HP:0012433)3.06371986
28Anxiety (HP:0000739)3.06078829
29Urinary bladder sphincter dysfunction (HP:0002839)3.05598663
30Papilledema (HP:0001085)2.97560338
31Postural instability (HP:0002172)2.96236375
32Tetraplegia (HP:0002445)2.95610163
33Abnormal eating behavior (HP:0100738)2.92417342
34Sleep apnea (HP:0010535)2.90753883
35Hyperventilation (HP:0002883)2.89491140
36Hemiparesis (HP:0001269)2.88981828
37Scanning speech (HP:0002168)2.87040137
38Limb dystonia (HP:0002451)2.85662153
39Abnormality of binocular vision (HP:0011514)2.85653956
40Diplopia (HP:0000651)2.85653956
41Genetic anticipation (HP:0003743)2.80361354
42Progressive inability to walk (HP:0002505)2.77823081
43Intention tremor (HP:0002080)2.76118621
44Urinary urgency (HP:0000012)2.74086367
45Drooling (HP:0002307)2.73713599
46Excessive salivation (HP:0003781)2.73713599
47Amblyopia (HP:0000646)2.73527179
48Cerebral hypomyelination (HP:0006808)2.73089004
49Spastic gait (HP:0002064)2.71907251
50Abnormality of the corticospinal tract (HP:0002492)2.66308693
51Impaired smooth pursuit (HP:0007772)2.63978687
52Hemiplegia (HP:0002301)2.63112905
53Insidious onset (HP:0003587)2.52917458
54Termporal pattern (HP:0011008)2.52917458
55Torticollis (HP:0000473)2.50324675
56Abnormality of the lower motor neuron (HP:0002366)2.47022968
57Bradykinesia (HP:0002067)2.46598644
58Megalencephaly (HP:0001355)2.45577986
59Apathy (HP:0000741)2.42652746
60Stereotypic behavior (HP:0000733)2.42496428
61Status epilepticus (HP:0002133)2.37011198
62Abnormality of ocular smooth pursuit (HP:0000617)2.34337172
63Focal dystonia (HP:0004373)2.28785844
64Fetal akinesia sequence (HP:0001989)2.28077245
65Epileptiform EEG discharges (HP:0011182)2.26813859
66Absent speech (HP:0001344)2.26796038
67Lower limb muscle weakness (HP:0007340)2.25763266
68Pheochromocytoma (HP:0002666)2.23715421
69Ventricular fibrillation (HP:0001663)2.22572500
70Amyotrophic lateral sclerosis (HP:0007354)2.19987881
71EEG with generalized epileptiform discharges (HP:0011198)2.18261200
72Generalized myoclonic seizures (HP:0002123)2.15726952
73Bronchomalacia (HP:0002780)2.14700889
74Diminished motivation (HP:0000745)2.13651756
75Neuronal loss in central nervous system (HP:0002529)2.13623140
76Split foot (HP:0001839)2.11040963
77Annular pancreas (HP:0001734)2.09889744
78Polyphagia (HP:0002591)2.09201246
79Dysmetric saccades (HP:0000641)2.06243566
80Hypsarrhythmia (HP:0002521)2.05954943
81Agitation (HP:0000713)2.04552496
82Craniofacial dystonia (HP:0012179)2.04548252
83Insomnia (HP:0100785)2.04442717
84Inability to walk (HP:0002540)2.03543177
85Lower limb asymmetry (HP:0100559)2.03318301
86Impaired vibratory sensation (HP:0002495)2.02381570
87Increased circulating renin level (HP:0000848)2.01341440
88Spastic tetraparesis (HP:0001285)2.00410902
89Pointed chin (HP:0000307)1.96894895
90Gait ataxia (HP:0002066)1.96282758
91Psychosis (HP:0000709)1.95884040
92Turricephaly (HP:0000262)1.94797179
93Peripheral hypomyelination (HP:0007182)1.94583660
94Spinal canal stenosis (HP:0003416)1.92663454
95Morphological abnormality of the pyramidal tract (HP:0002062)1.91420455
96Blue irides (HP:0000635)1.90929147
97Degeneration of the lateral corticospinal tracts (HP:0002314)1.89175082
98Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.89175082
99Thickened helices (HP:0000391)1.89054518
100Lower limb amyotrophy (HP:0007210)1.88984753
101Clonus (HP:0002169)1.88575486
102Aplasia involving bones of the upper limbs (HP:0009823)1.88348840
103Aplasia of the phalanges of the hand (HP:0009802)1.88348840
104Aplasia involving bones of the extremities (HP:0009825)1.88348840
105Rigidity (HP:0002063)1.88170239
106Incomplete penetrance (HP:0003829)1.87715658
107Rapidly progressive (HP:0003678)1.87660014
108Neuroendocrine neoplasm (HP:0100634)1.87413696
109Inappropriate behavior (HP:0000719)1.86345385
110Abnormality of saccadic eye movements (HP:0000570)1.85959779
111Obstructive sleep apnea (HP:0002870)1.85813963
112Abnormality of salivation (HP:0100755)1.85407541
113Choreoathetosis (HP:0001266)1.82291455
114Akinesia (HP:0002304)1.81849129
115Delusions (HP:0000746)1.78068772
116Memory impairment (HP:0002354)1.74875015

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.50902228
2NTRK34.40148966
3MAP3K93.87669873
4MARK13.25625365
5MAP3K42.84312431
6MINK12.59529298
7NTRK22.32673367
8MAP2K72.24964780
9DAPK22.19245786
10PAK62.19158427
11RIPK42.18750978
12NTRK12.17877794
13KSR22.10112805
14PNCK1.90904354
15PRKD31.81892648
16TNIK1.81382999
17MAP2K41.79036507
18CAMKK11.70921530
19MAP3K121.67605008
20SIK21.64726198
21CDK51.60332934
22KSR11.50218530
23CASK1.48880435
24GRK51.36952503
25MAPK131.33540683
26FES1.31580281
27ARAF1.27533601
28STK381.27145015
29TYRO31.24781237
30MAP3K131.24365035
31PLK21.23199358
32UHMK11.21914197
33CDK191.21313723
34DAPK11.19576774
35PRKCG1.17249554
36PHKG11.15945574
37PHKG21.15945574
38PRPF4B1.14007158
39MAPK121.08455147
40MAP3K21.08283192
41LATS21.00337177
42CAMKK20.97308085
43* CAMK2A0.96116092
44STK110.94720920
45CAMK2B0.94434260
46CDK150.92786606
47CDK180.91867108
48CDK140.90619482
49RET0.89653703
50CAMK10.89304827
51SGK2230.88819293
52SGK4940.88819293
53OXSR10.88491490
54CSNK1G20.84739340
55PRKCH0.83899847
56PAK30.81660628
57CDK11A0.81601539
58TAOK10.79978712
59MARK20.79647720
60ALK0.77194115
61RAF10.77150603
62PINK10.75090793
63WNK10.74114335
64TNK20.73565877
65DYRK1A0.73218376
66SGK10.71695094
67LMTK20.71364436
68BMPR20.71149963
69PTK2B0.70732409
70FGR0.65528495
71CAMK1G0.64986281
72SGK20.64099039
73STK390.61965166
74PDPK10.60217158
75PDK10.60076242
76CAMK2D0.58525555
77SGK30.58151060
78NEK60.55241764
79CAMK2G0.55128597
80FYN0.53431776
81PRKCZ0.53408822
82MAPKAPK50.53288249
83MAP3K10.53195526
84RPS6KA30.50557099
85BRSK10.49995292
86ERBB20.49644514
87PRKCE0.49439020
88CDC42BPA0.48518955
89PKN10.47049265
90MAP3K70.45716368
91ROCK20.45351691
92RIPK10.44152897
93MAP3K110.41832881
94* MAPK100.40935582
95FGFR20.39984142
96BRAF0.38208233
97PDGFRA0.37509240
98CAMK1D0.37319407
99ROCK10.37214308
100FER0.36611752
101SCYL20.36553495
102CSNK1G30.36110066
103MAP2K60.35949878
104MAPK80.35078831
105CAMK40.34665631
106MAPK70.33879574
107PRKCB0.32741564
108JAK20.32486411
109DAPK30.32372141
110DMPK0.31556072
111MUSK0.31021841
112NME10.31012464
113MAP2K10.30593843
114TRIB30.29598684
115BMX0.29366549
116MAPK40.28493735
117PRKG10.28475025

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.87875378
2Synaptic vesicle cycle_Homo sapiens_hsa047213.03124057
3* GABAergic synapse_Homo sapiens_hsa047272.71716567
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.70711767
5Long-term potentiation_Homo sapiens_hsa047202.67845451
6Glutamatergic synapse_Homo sapiens_hsa047242.67580750
7Circadian entrainment_Homo sapiens_hsa047132.66144127
8Olfactory transduction_Homo sapiens_hsa047402.65136670
9Amphetamine addiction_Homo sapiens_hsa050312.47168709
10* Morphine addiction_Homo sapiens_hsa050322.46733185
11Salivary secretion_Homo sapiens_hsa049702.23842719
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23733193
13Dopaminergic synapse_Homo sapiens_hsa047282.19014519
14Gastric acid secretion_Homo sapiens_hsa049711.94864388
15Insulin secretion_Homo sapiens_hsa049111.91715238
16Cholinergic synapse_Homo sapiens_hsa047251.89198641
17Cocaine addiction_Homo sapiens_hsa050301.84596676
18Long-term depression_Homo sapiens_hsa047301.83243553
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78272751
20Serotonergic synapse_Homo sapiens_hsa047261.74672094
21* Taste transduction_Homo sapiens_hsa047421.72436500
22Renin secretion_Homo sapiens_hsa049241.72373448
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67088509
24Oxytocin signaling pathway_Homo sapiens_hsa049211.63050600
25Calcium signaling pathway_Homo sapiens_hsa040201.62807149
26GnRH signaling pathway_Homo sapiens_hsa049121.46647584
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.45842418
28Gap junction_Homo sapiens_hsa045401.40511699
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33727885
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31909513
31* cAMP signaling pathway_Homo sapiens_hsa040241.26616317
32Nitrogen metabolism_Homo sapiens_hsa009101.25563246
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25369175
34Axon guidance_Homo sapiens_hsa043601.20535014
35Collecting duct acid secretion_Homo sapiens_hsa049661.20453467
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14749238
37Type II diabetes mellitus_Homo sapiens_hsa049301.11809516
38* Estrogen signaling pathway_Homo sapiens_hsa049151.09978138
39* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.07938873
40Melanogenesis_Homo sapiens_hsa049161.06509195
41Glioma_Homo sapiens_hsa052141.04795637
42Cardiac muscle contraction_Homo sapiens_hsa042601.01675226
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00829785
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00310159
45ErbB signaling pathway_Homo sapiens_hsa040120.99439617
46Dorso-ventral axis formation_Homo sapiens_hsa043200.97167812
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.95753967
48Pancreatic secretion_Homo sapiens_hsa049720.93897298
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.93057278
50Vitamin B6 metabolism_Homo sapiens_hsa007500.86861322
51Oocyte meiosis_Homo sapiens_hsa041140.83792106
52Thyroid hormone synthesis_Homo sapiens_hsa049180.81952851
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80078055
54Phototransduction_Homo sapiens_hsa047440.79723174
55Choline metabolism in cancer_Homo sapiens_hsa052310.76725819
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75448485
57Vibrio cholerae infection_Homo sapiens_hsa051100.75413379
58Dilated cardiomyopathy_Homo sapiens_hsa054140.73246702
59MAPK signaling pathway_Homo sapiens_hsa040100.72043876
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71694213
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68263996
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65121490
63VEGF signaling pathway_Homo sapiens_hsa043700.62629071
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62366330
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62257986
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.59071913
67Neurotrophin signaling pathway_Homo sapiens_hsa047220.58994215
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58549297
69Ras signaling pathway_Homo sapiens_hsa040140.58159386
70Rap1 signaling pathway_Homo sapiens_hsa040150.57837323
71Bile secretion_Homo sapiens_hsa049760.55467309
72Alcoholism_Homo sapiens_hsa050340.55323498
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54023060
74Inositol phosphate metabolism_Homo sapiens_hsa005620.50812082
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50809434
76Type I diabetes mellitus_Homo sapiens_hsa049400.50167339
77Glucagon signaling pathway_Homo sapiens_hsa049220.48813902
78Endocytosis_Homo sapiens_hsa041440.47161022
79Renal cell carcinoma_Homo sapiens_hsa052110.45251400
80Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45249962
81Wnt signaling pathway_Homo sapiens_hsa043100.44396685
82Prion diseases_Homo sapiens_hsa050200.42911370
83mTOR signaling pathway_Homo sapiens_hsa041500.41984300
84Ovarian steroidogenesis_Homo sapiens_hsa049130.41038974
85Non-small cell lung cancer_Homo sapiens_hsa052230.40907190
86African trypanosomiasis_Homo sapiens_hsa051430.39907267
87Alzheimers disease_Homo sapiens_hsa050100.38292706
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37973612
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37532448
90Endometrial cancer_Homo sapiens_hsa052130.37118095
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37053269
92SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36711235
93Circadian rhythm_Homo sapiens_hsa047100.35988023
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.35746421
95Chemokine signaling pathway_Homo sapiens_hsa040620.34935372
96Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.33457176
97Insulin signaling pathway_Homo sapiens_hsa049100.33399050
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32410282
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.31579768
100AMPK signaling pathway_Homo sapiens_hsa041520.30540732
101Prolactin signaling pathway_Homo sapiens_hsa049170.28293371
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.28290472
103HIF-1 signaling pathway_Homo sapiens_hsa040660.28275358
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28205411
105Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.27907949
106Notch signaling pathway_Homo sapiens_hsa043300.27830367
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26744077
108Tight junction_Homo sapiens_hsa045300.26547842
109AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.26470480
110Platelet activation_Homo sapiens_hsa046110.24693437

Most similar genes based on co-expression Upload to Enrichr

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