GRM1

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 metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.63756429
2vocalization behavior (GO:0071625)5.52840302
3ionotropic glutamate receptor signaling pathway (GO:0035235)5.40442859
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.40055893
5locomotory exploration behavior (GO:0035641)5.39125559
6neuronal action potential propagation (GO:0019227)5.18667191
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.18371207
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.13030026
9synaptic vesicle maturation (GO:0016188)4.94638415
10synaptic vesicle exocytosis (GO:0016079)4.84416635
11* glutamate receptor signaling pathway (GO:0007215)4.83207925
12cerebellar granule cell differentiation (GO:0021707)4.68059099
13regulation of glutamate receptor signaling pathway (GO:1900449)4.67915780
14synaptic transmission, glutamatergic (GO:0035249)4.65838884
15gamma-aminobutyric acid transport (GO:0015812)4.60337039
16short-term memory (GO:0007614)4.50453915
17glutamate secretion (GO:0014047)4.46685875
18regulation of synaptic vesicle exocytosis (GO:2000300)4.45580551
19neurotransmitter secretion (GO:0007269)4.42823840
20neuron cell-cell adhesion (GO:0007158)4.38108854
21neuron-neuron synaptic transmission (GO:0007270)4.38072123
22cerebellar Purkinje cell differentiation (GO:0021702)4.36985350
23cellular potassium ion homeostasis (GO:0030007)4.32097121
24gamma-aminobutyric acid signaling pathway (GO:0007214)4.31872503
25long-term memory (GO:0007616)4.26766197
26membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.25361246
27protein localization to synapse (GO:0035418)4.22413364
28exploration behavior (GO:0035640)4.21986229
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.11485618
30cellular sodium ion homeostasis (GO:0006883)4.07654508
31regulation of synapse structural plasticity (GO:0051823)4.07160962
32regulation of synaptic vesicle transport (GO:1902803)4.02386122
33neurotransmitter-gated ion channel clustering (GO:0072578)3.97524780
34C4-dicarboxylate transport (GO:0015740)3.94645790
35positive regulation of dendritic spine morphogenesis (GO:0061003)3.93379284
36positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.92210887
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.89828426
38regulation of excitatory postsynaptic membrane potential (GO:0060079)3.89820793
39sodium ion export (GO:0071436)3.88105480
40synaptic vesicle docking involved in exocytosis (GO:0016081)3.87313522
41* G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.87135749
42positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.86659662
43transmission of nerve impulse (GO:0019226)3.86023314
44regulation of neuronal synaptic plasticity (GO:0048168)3.85801022
45regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.77029716
46neuromuscular process controlling posture (GO:0050884)3.74903079
47cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.74128220
48positive regulation of synapse maturation (GO:0090129)3.73158161
49layer formation in cerebral cortex (GO:0021819)3.72960145
50neurotransmitter transport (GO:0006836)3.71885170
51regulation of postsynaptic membrane potential (GO:0060078)3.71391668
52dendritic spine morphogenesis (GO:0060997)3.67108787
53regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.65722405
54prepulse inhibition (GO:0060134)3.65250211
55positive regulation of membrane potential (GO:0045838)3.64971953
56cerebellar Purkinje cell layer development (GO:0021680)3.61526825
57righting reflex (GO:0060013)3.61381876
58membrane depolarization during action potential (GO:0086010)3.57314399
59cell differentiation in hindbrain (GO:0021533)3.55583896
60response to pheromone (GO:0019236)3.54682794
61neurofilament cytoskeleton organization (GO:0060052)3.50854345
62negative regulation of synaptic transmission, GABAergic (GO:0032229)3.50794949
63regulation of neurotransmitter levels (GO:0001505)3.45649801
64proline transport (GO:0015824)3.41697022
65cell communication by electrical coupling (GO:0010644)3.41118569
66neuron recognition (GO:0008038)3.41028975
67chemosensory behavior (GO:0007635)3.40270801
68membrane depolarization (GO:0051899)3.38417746
69behavioral response to nicotine (GO:0035095)3.38174253
70neuromuscular process controlling balance (GO:0050885)3.34709093
71long-term synaptic potentiation (GO:0060291)3.34009336
72retina layer formation (GO:0010842)3.32886167
73membrane hyperpolarization (GO:0060081)3.27676228
74* regulation of synaptic transmission, glutamatergic (GO:0051966)3.27107529
75regulation of synaptic plasticity (GO:0048167)3.26262496
76activation of protein kinase A activity (GO:0034199)3.25837357
77axon ensheathment in central nervous system (GO:0032291)3.25689556
78central nervous system myelination (GO:0022010)3.25689556
79synaptic vesicle endocytosis (GO:0048488)3.25470318
80auditory behavior (GO:0031223)3.25455630
81regulation of neurotransmitter secretion (GO:0046928)3.24645526
82serotonin metabolic process (GO:0042428)3.23893020
83regulation of dendritic spine morphogenesis (GO:0061001)3.21726216
84postsynaptic membrane organization (GO:0001941)3.20850668
85mechanosensory behavior (GO:0007638)3.20390089
86potassium ion homeostasis (GO:0055075)3.19071039
87adult walking behavior (GO:0007628)3.19024764
88positive regulation of potassium ion transmembrane transport (GO:1901381)3.17357065
89response to histamine (GO:0034776)3.16434112
90startle response (GO:0001964)3.15784552
91regulation of vesicle fusion (GO:0031338)3.12005246
92glycine transport (GO:0015816)3.10415803
93potassium ion import (GO:0010107)3.10079332
94presynaptic membrane organization (GO:0097090)3.09262581
95positive regulation of synaptic transmission, GABAergic (GO:0032230)3.07745279
96response to auditory stimulus (GO:0010996)3.07708263
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.07671842
98neuronal action potential (GO:0019228)3.07446464
99regulation of neurotransmitter transport (GO:0051588)3.07039950
100synapse assembly (GO:0007416)3.06488611
101axonal fasciculation (GO:0007413)3.05739923
102acidic amino acid transport (GO:0015800)3.04567847
103detection of calcium ion (GO:0005513)3.03700460
104positive regulation of synapse assembly (GO:0051965)3.02192346
105mating behavior (GO:0007617)3.02156382
106regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.02107785
107behavioral fear response (GO:0001662)3.01756923
108behavioral defense response (GO:0002209)3.01756923
109presynaptic membrane assembly (GO:0097105)3.01398355
110regulation of voltage-gated calcium channel activity (GO:1901385)3.00344122
111* synaptic transmission (GO:0007268)2.99874603
112negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.99338882
113primary amino compound metabolic process (GO:1901160)2.99317598
114positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98911465
115regulation of synapse maturation (GO:0090128)2.98512173
116long term synaptic depression (GO:0060292)2.97779269
117positive regulation of dendritic spine development (GO:0060999)2.97689037
118regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.96859554
119innervation (GO:0060384)2.96730803
120learning (GO:0007612)2.96077032
121adult behavior (GO:0030534)2.95376181
122metanephric tubule development (GO:0072170)2.95118280
123metanephric nephron tubule development (GO:0072234)2.95118280
124regulation of dendritic spine development (GO:0060998)2.93580224
125regulation of synaptic transmission, GABAergic (GO:0032228)2.91383905
126negative regulation of heart rate (GO:0010459)2.91147415
127detection of light stimulus involved in sensory perception (GO:0050962)2.89693600

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.18574497
2GBX2_23144817_ChIP-Seq_PC3_Human3.53210621
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.21568899
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07818671
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02142679
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.71235345
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.71235345
8REST_21632747_ChIP-Seq_MESCs_Mouse2.66539825
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58622411
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55986371
11* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51097444
12DROSHA_22980978_ChIP-Seq_HELA_Human2.49698047
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48946248
14* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47585796
15IKZF1_21737484_ChIP-ChIP_HCT116_Human2.43522009
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.42863405
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.42774201
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.32860293
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.27104080
20* EZH2_27294783_Chip-Seq_ESCs_Mouse2.24457875
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.15295344
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.13393732
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.12641190
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02950702
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.99402075
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.93091568
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87481139
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80850653
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.80417237
30TAF15_26573619_Chip-Seq_HEK293_Human1.78225255
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.70608964
32AR_21572438_ChIP-Seq_LNCaP_Human1.68863293
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64789693
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64101515
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.61653660
36ZNF274_21170338_ChIP-Seq_K562_Hela1.57678053
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51196944
38* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50510094
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47356040
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.41127935
41P300_19829295_ChIP-Seq_ESCs_Human1.38092542
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.36763818
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35123531
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33240072
45CDX2_19796622_ChIP-Seq_MESCs_Mouse1.28778316
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.28518011
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.25784872
48AR_25329375_ChIP-Seq_VCAP_Human1.25278619
49* STAT3_23295773_ChIP-Seq_U87_Human1.25016444
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.23326426
51RING1B_27294783_Chip-Seq_ESCs_Mouse1.23267778
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.22240433
53TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.22175883
54* AR_19668381_ChIP-Seq_PC3_Human1.22010136
55CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.21557334
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.20487593
57NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20479246
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.19888719
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18279894
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16982146
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16936504
62* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15587518
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15134789
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.14565474
65* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.13983739
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12696854
67ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12320775
68FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.11000447
69MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10919279
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10617076
71TP53_16413492_ChIP-PET_HCT116_Human1.10598417
72* TCF4_23295773_ChIP-Seq_U87_Human1.10351389
73FLI1_27457419_Chip-Seq_LIVER_Mouse1.10004449
74RNF2_27304074_Chip-Seq_NSC_Mouse1.08631730
75CBP_20019798_ChIP-Seq_JUKART_Human1.07719717
76IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07719717
77DNAJC2_21179169_ChIP-ChIP_NT2_Human1.07238810
78TAL1_26923725_Chip-Seq_HPCs_Mouse1.04365895
79MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04014076
80* FLI1_21867929_ChIP-Seq_TH2_Mouse1.03723666
81WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02984812
82ARNT_22903824_ChIP-Seq_MCF-7_Human1.02822120
83IGF1R_20145208_ChIP-Seq_DFB_Human1.02070506
84* RUNX2_22187159_ChIP-Seq_PCA_Human1.00790396
85UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00337807
86NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99992453
87* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.99901898
88AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99756938
89P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99015932
90RBPJ_22232070_ChIP-Seq_NCS_Mouse0.98478699
91ZNF217_24962896_ChIP-Seq_MCF-7_Human0.98266199
92KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98264507
93RING1B_27294783_Chip-Seq_NPCs_Mouse0.97995583
94YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97911235
95TP53_18474530_ChIP-ChIP_U2OS_Human0.97061988
96LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96996995
97SMAD4_21741376_ChIP-Seq_EPCs_Human0.96477699
98AHR_22903824_ChIP-Seq_MCF-7_Human0.95817389
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95498033
100POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95498033
101BCAT_22108803_ChIP-Seq_LS180_Human0.94753414
102TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93534476
103VDR_22108803_ChIP-Seq_LS180_Human0.93451369
104CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92671397
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.92467649
106ER_23166858_ChIP-Seq_MCF-7_Human0.92271558
107RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91496516
108EP300_21415370_ChIP-Seq_HL-1_Mouse0.90008830
109PRDM14_20953172_ChIP-Seq_ESCs_Human0.89804164
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.89608407
111TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.89414919
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.88651192
113NANOG_18555785_Chip-Seq_ESCs_Mouse0.88036850
114SMAD3_21741376_ChIP-Seq_HESCs_Human0.85559803
115GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85074175
116FUS_26573619_Chip-Seq_HEK293_Human0.84153054

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.86576704
2MP0003880_abnormal_central_pattern4.67130647
3* MP0003635_abnormal_synaptic_transmissio4.17250766
4* MP0009046_muscle_twitch3.88501199
5MP0009745_abnormal_behavioral_response3.61045421
6MP0002064_seizures3.35349789
7* MP0002063_abnormal_learning/memory/cond3.11460083
8MP0004270_analgesia3.09187377
9MP0001968_abnormal_touch/_nociception2.94856615
10* MP0002272_abnormal_nervous_system2.90068744
11* MP0002572_abnormal_emotion/affect_behav2.79872869
12MP0005423_abnormal_somatic_nervous2.70360867
13MP0001501_abnormal_sleep_pattern2.55810128
14MP0002734_abnormal_mechanical_nocicepti2.50859126
15MP0001486_abnormal_startle_reflex2.49998029
16MP0008569_lethality_at_weaning2.44209056
17MP0001440_abnormal_grooming_behavior2.39585275
18MP0002822_catalepsy2.38684713
19MP0002736_abnormal_nociception_after2.31535665
20* MP0002067_abnormal_sensory_capabilities2.25358027
21MP0002735_abnormal_chemical_nociception2.17319500
22MP0002184_abnormal_innervation1.92391021
23MP0001970_abnormal_pain_threshold1.90400639
24MP0004145_abnormal_muscle_electrophysio1.90260232
25MP0002733_abnormal_thermal_nociception1.89090567
26* MP0002557_abnormal_social/conspecific_i1.74363834
27* MP0004924_abnormal_behavior1.72063404
28* MP0005386_behavior/neurological_phenoty1.72063404
29MP0004142_abnormal_muscle_tone1.71622591
30MP0003329_amyloid_beta_deposits1.68811426
31MP0006276_abnormal_autonomic_nervous1.62290698
32MP0002909_abnormal_adrenal_gland1.61161692
33MP0002837_dystrophic_cardiac_calcinosis1.57341154
34MP0000778_abnormal_nervous_system1.57269446
35MP0001984_abnormal_olfaction1.56268663
36MP0004858_abnormal_nervous_system1.52203265
37MP0001529_abnormal_vocalization1.51973833
38* MP0002066_abnormal_motor_capabilities/c1.48007933
39MP0003879_abnormal_hair_cell1.47930514
40MP0004215_abnormal_myocardial_fiber1.46100504
41MP0005646_abnormal_pituitary_gland1.45593083
42MP0004885_abnormal_endolymph1.44908362
43MP0004811_abnormal_neuron_physiology1.44534053
44MP0008877_abnormal_DNA_methylation1.44307413
45MP0000751_myopathy1.43982663
46MP0000955_abnormal_spinal_cord1.43177133
47MP0000569_abnormal_digit_pigmentation1.40777150
48MP0003633_abnormal_nervous_system1.38943131
49MP0003646_muscle_fatigue1.34002070
50MP0009780_abnormal_chondrocyte_physiolo1.33728236
51MP0002882_abnormal_neuron_morphology1.32262433
52MP0003787_abnormal_imprinting1.28267536
53MP0001502_abnormal_circadian_rhythm1.24498725
54MP0004742_abnormal_vestibular_system1.23659932
55MP0003631_nervous_system_phenotype1.21369390
56MP0005645_abnormal_hypothalamus_physiol1.19048347
57MP0003890_abnormal_embryonic-extraembry1.17736097
58MP0001188_hyperpigmentation1.17446313
59MP0001905_abnormal_dopamine_level1.16975058
60MP0000566_synostosis1.13203757
61MP0003122_maternal_imprinting1.13022885
62MP0003137_abnormal_impulse_conducting1.10918158
63MP0008872_abnormal_physiological_respon1.09694797
64MP0002152_abnormal_brain_morphology1.07786316
65MP0004484_altered_response_of1.06830198
66MP0001986_abnormal_taste_sensitivity1.06270644
67MP0008875_abnormal_xenobiotic_pharmacok1.06244764
68MP0004085_abnormal_heartbeat1.05472763
69MP0003690_abnormal_glial_cell1.04877411
70MP0002229_neurodegeneration1.04040436
71MP0003632_abnormal_nervous_system1.00891947
72MP0005551_abnormal_eye_electrophysiolog0.97736571
73MP0000920_abnormal_myelination0.95562956
74MP0008874_decreased_physiological_sensi0.93283328
75MP0003136_yellow_coat_color0.92144142
76MP0004510_myositis0.89286582
77MP0004036_abnormal_muscle_relaxation0.88119620
78MP0003121_genomic_imprinting0.87820962
79MP0000013_abnormal_adipose_tissue0.87045629
80MP0006035_abnormal_mitochondrial_morpho0.86826767
81MP0002069_abnormal_eating/drinking_beha0.86308198
82MP0005535_abnormal_body_temperature0.85074894
83MP0004043_abnormal_pH_regulation0.84227275
84MP0001963_abnormal_hearing_physiology0.81812782
85MP0005253_abnormal_eye_physiology0.80892308
86MP0003634_abnormal_glial_cell0.79603906
87MP0004233_abnormal_muscle_weight0.78331467
88MP0001485_abnormal_pinna_reflex0.75899359
89MP0003123_paternal_imprinting0.74821531
90MP0001177_atelectasis0.72592439
91MP0003283_abnormal_digestive_organ0.72432558
92MP0005409_darkened_coat_color0.71226106
93MP0002752_abnormal_somatic_nervous0.70913658
94MP0005187_abnormal_penis_morphology0.70633187
95MP0010386_abnormal_urinary_bladder0.69052073
96MP0000604_amyloidosis0.67536264
97MP0005167_abnormal_blood-brain_barrier0.67128208
98MP0005623_abnormal_meninges_morphology0.66754689
99MP0000026_abnormal_inner_ear0.66568742
100MP0004084_abnormal_cardiac_muscle0.66287450
101MP0005171_absent_coat_pigmentation0.66275588
102MP0005499_abnormal_olfactory_system0.65554280
103MP0005394_taste/olfaction_phenotype0.65554280
104MP0002102_abnormal_ear_morphology0.65003332
105MP0006072_abnormal_retinal_apoptosis0.62817964
106MP0002638_abnormal_pupillary_reflex0.62608347
107MP0005410_abnormal_fertilization0.60445052
108MP0004147_increased_porphyrin_level0.59764611
109MP0000631_abnormal_neuroendocrine_gland0.59127391
110MP0005620_abnormal_muscle_contractility0.58856801
111MP0000747_muscle_weakness0.58777120
112MP0003075_altered_response_to0.58400774
113MP0001943_abnormal_respiration0.55292068
114* MP0003698_abnormal_male_reproductive0.55274929
115MP0010769_abnormal_survival0.55152771
116MP0002090_abnormal_vision0.55050482
117MP0000538_abnormal_urinary_bladder0.54861630
118MP0001299_abnormal_eye_distance/0.54588322
119MP0005174_abnormal_tail_pigmentation0.54505409

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.76175619
2Myokymia (HP:0002411)6.33785357
3Focal seizures (HP:0007359)5.81281710
4Progressive cerebellar ataxia (HP:0002073)5.76295181
5Visual hallucinations (HP:0002367)5.48256532
6Action tremor (HP:0002345)5.26272805
7Atonic seizures (HP:0010819)4.90654030
8Febrile seizures (HP:0002373)4.55822257
9Gaze-evoked nystagmus (HP:0000640)4.53109100
10Epileptic encephalopathy (HP:0200134)4.50221410
11Absence seizures (HP:0002121)4.29357319
12Broad-based gait (HP:0002136)4.08820861
13Generalized tonic-clonic seizures (HP:0002069)3.88551905
14Dysmetric saccades (HP:0000641)3.86933349
15Dialeptic seizures (HP:0011146)3.86344818
16Scanning speech (HP:0002168)3.68368951
17Truncal ataxia (HP:0002078)3.45210659
18Poor eye contact (HP:0000817)3.42232786
19* Dysdiadochokinesis (HP:0002075)3.41831692
20Impaired smooth pursuit (HP:0007772)3.40937588
21* Dysmetria (HP:0001310)3.37733787
22Genetic anticipation (HP:0003743)3.24507188
23Impaired vibration sensation in the lower limbs (HP:0002166)3.19500910
24Depression (HP:0000716)3.17732812
25Hemiplegia (HP:0002301)3.17396841
26Anxiety (HP:0000739)3.16909162
27Abnormality of binocular vision (HP:0011514)3.13044161
28Diplopia (HP:0000651)3.13044161
29Hemiparesis (HP:0001269)3.10436945
30Abnormality of ocular smooth pursuit (HP:0000617)3.09407306
31Impaired social interactions (HP:0000735)3.08129080
32Abnormal social behavior (HP:0012433)3.08129080
33Hyperventilation (HP:0002883)3.07442127
34Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.06146817
35Degeneration of the lateral corticospinal tracts (HP:0002314)3.06146817
36Supranuclear gaze palsy (HP:0000605)3.05896752
37Intention tremor (HP:0002080)3.01404794
38Abnormal eating behavior (HP:0100738)2.90187083
39Ventricular fibrillation (HP:0001663)2.85939077
40Postural instability (HP:0002172)2.83827357
41Status epilepticus (HP:0002133)2.73347924
42Mutism (HP:0002300)2.68752883
43Urinary bladder sphincter dysfunction (HP:0002839)2.66947830
44Progressive inability to walk (HP:0002505)2.65817921
45Excessive salivation (HP:0003781)2.62502108
46Drooling (HP:0002307)2.62502108
47Abnormality of the lower motor neuron (HP:0002366)2.56256081
48* Horizontal nystagmus (HP:0000666)2.53926518
49Ankle clonus (HP:0011448)2.53256902
50Pheochromocytoma (HP:0002666)2.43411887
51Abnormality of the corticospinal tract (HP:0002492)2.41998916
52Bundle branch block (HP:0011710)2.37388926
53Spastic gait (HP:0002064)2.35679100
54Amblyopia (HP:0000646)2.35194081
55Stereotypic behavior (HP:0000733)2.33360993
56Postural tremor (HP:0002174)2.31960983
57Fetal akinesia sequence (HP:0001989)2.27506291
58Neurofibrillary tangles (HP:0002185)2.27357045
59Bradykinesia (HP:0002067)2.27086483
60Gait ataxia (HP:0002066)2.26327164
61Epileptiform EEG discharges (HP:0011182)2.25418685
62Agitation (HP:0000713)2.20115068
63Syncope (HP:0001279)2.18527194
64Sudden death (HP:0001699)2.18241928
65Neuronal loss in central nervous system (HP:0002529)2.18183685
66Impaired vibratory sensation (HP:0002495)2.17064522
67EEG with generalized epileptiform discharges (HP:0011198)2.16537488
68Absent speech (HP:0001344)2.16479264
69Annular pancreas (HP:0001734)2.16461294
70Limb ataxia (HP:0002070)2.15648726
71Urinary urgency (HP:0000012)2.13008392
72Abnormal EKG (HP:0003115)2.12565762
73Morphological abnormality of the pyramidal tract (HP:0002062)2.12532913
74Cerebral inclusion bodies (HP:0100314)2.12205273
75Psychosis (HP:0000709)2.12005173
76Prolonged QT interval (HP:0001657)2.11797811
77Neuroendocrine neoplasm (HP:0100634)2.10242103
78* Abnormality of saccadic eye movements (HP:0000570)2.09234953
79Tetraplegia (HP:0002445)2.08317276
80Limb dystonia (HP:0002451)2.04820928
81Hypsarrhythmia (HP:0002521)2.01322620
82Focal dystonia (HP:0004373)1.99981194
83Incomplete penetrance (HP:0003829)1.97644677
84Torticollis (HP:0000473)1.97364365
85Generalized myoclonic seizures (HP:0002123)1.96641447
86Amyotrophic lateral sclerosis (HP:0007354)1.96104972
87Dynein arm defect of respiratory motile cilia (HP:0012255)1.88930764
88Absent/shortened dynein arms (HP:0200106)1.88930764
89Blue irides (HP:0000635)1.88253012
90Myotonia (HP:0002486)1.88078390
91Polyphagia (HP:0002591)1.87524796
92Lower limb asymmetry (HP:0100559)1.87453966
93Papilledema (HP:0001085)1.87249651
94Gait imbalance (HP:0002141)1.87246656
95Abnormal ciliary motility (HP:0012262)1.84157694
96Lower limb muscle weakness (HP:0007340)1.82394781
97Inability to walk (HP:0002540)1.82110950
98Termporal pattern (HP:0011008)1.80095770
99Insidious onset (HP:0003587)1.80095770
100Retinal dysplasia (HP:0007973)1.80032071
101Abnormal pancreas size (HP:0012094)1.78060783
102Exercise-induced myalgia (HP:0003738)1.76887097
103Atrial fibrillation (HP:0005110)1.76756966
104Type II lissencephaly (HP:0007260)1.76625672
105Spastic tetraplegia (HP:0002510)1.75917568
106Primary atrial arrhythmia (HP:0001692)1.74847506
107Megalencephaly (HP:0001355)1.74555144
108Pointed chin (HP:0000307)1.73211620
109Abnormality of salivation (HP:0100755)1.71530530
110Dyskinesia (HP:0100660)1.69608910
111Decreased central vision (HP:0007663)1.66240658
112Ulnar claw (HP:0001178)1.65775862
113Shawl scrotum (HP:0000049)1.60399895
114Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.59694943
115Optic nerve hypoplasia (HP:0000609)1.57867605
116Sleep apnea (HP:0010535)1.55502372
117Protruding tongue (HP:0010808)1.54980539
118Prominent supraorbital ridges (HP:0000336)1.54956206
119Cerebral hypomyelination (HP:0006808)1.54778632
120Increased circulating renin level (HP:0000848)1.54256299
121Medial flaring of the eyebrow (HP:0010747)1.50908022
122Congenital primary aphakia (HP:0007707)1.48814559
123Akinesia (HP:0002304)1.48622455
124Clonus (HP:0002169)1.45032644
125Specific learning disability (HP:0001328)1.41693723
126Intellectual disability, profound (HP:0002187)1.40985578
127Abnormal drinking behavior (HP:0030082)1.39923676
128Polydipsia (HP:0001959)1.39923676

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.57167930
2MAP3K93.32852483
3EPHA43.32519823
4MAP3K43.19793932
5MAP2K72.63855599
6MINK12.47283297
7MARK12.37486409
8NTRK22.36228962
9FRK2.24080646
10RIPK42.21923989
11TNIK2.14244588
12MAP2K42.12981675
13MAP3K122.10507675
14CAMKK22.05214732
15PNCK2.03385346
16CASK1.91142324
17PAK61.90280998
18DAPK21.88120830
19CAMKK11.81960722
20STK381.71183517
21CDK191.57174891
22MAP4K21.56408903
23PRPF4B1.56219802
24KSR21.55776954
25NTRK11.54954815
26CDK51.42614939
27WNK11.39638501
28GRK51.38915467
29FES1.36442033
30PRKCG1.35701492
31SIK21.33147126
32KSR11.33014894
33MAPK131.30128304
34PLK21.27371596
35PRKD31.25171921
36PHKG21.20851119
37PHKG11.20851119
38CAMK2A1.18525557
39LATS11.17708643
40RIPK11.16919266
41MAP3K131.15290735
42ARAF1.14211972
43PINK11.11645118
44CSNK1A1L1.11232360
45CAMK11.07612463
46CSNK1G31.07565555
47DAPK11.07331635
48OXSR11.06672749
49CAMK2B1.04142797
50LMTK21.02870845
51WNK31.01818371
52SGK2231.01209944
53SGK4941.01209944
54UHMK10.99572387
55STK38L0.98952150
56STK110.96129220
57SGK20.94756916
58PRKCH0.91469552
59TYRO30.90826474
60CAMK2D0.88575456
61CSNK1G10.86286974
62BMPR20.85543491
63TNK20.82906353
64CDK180.80587570
65PAK30.80188811
66CDK150.79826372
67ADRBK20.79745104
68SGK10.79050059
69GRK70.77114479
70BCR0.76214036
71CAMK2G0.75025642
72PTK2B0.75015886
73LIMK10.74912542
74CDK140.74081702
75SGK30.73884733
76PDK10.69475704
77CDK11A0.68577251
78CAMK1G0.68512161
79CAMK40.68127539
80STK390.66479850
81CDC42BPA0.65265231
82MUSK0.65225740
83ALK0.65006017
84DYRK1A0.63940047
85PDPK10.63767771
86BMPR1B0.62700037
87PRKCE0.62470579
88RET0.61751904
89MAP3K20.60417679
90CCNB10.60350582
91TESK10.60298758
92MARK20.59692453
93NEK60.58827110
94ROCK20.58570519
95CSNK1G20.57619757
96ACVR1B0.57608581
97RAF10.55745875
98* PRKCA0.55310850
99TAOK10.55111144
100RPS6KA30.54461463
101WNK40.53149852
102GRK10.53023154
103FER0.51033394
104FYN0.50998732
105MAP2K60.50711460
106CSNK1A10.50628717
107LATS20.50364350
108TRIM280.49029507
109PRKG10.46613950
110TSSK60.45647876
111PKN10.45337797
112DMPK0.44691668
113INSRR0.44557360
114PRKACA0.43942268
115MAPK100.43048432
116PDK40.42893519
117PDK30.42893519
118AKT30.42631831
119CDK30.42288596
120CSNK1D0.42264479
121MAPKAPK50.42264150
122MAP3K10.41412585
123PRKCZ0.41136435
124PRKCB0.38648573
125FGR0.37232539
126MAP3K70.37028690
127FGFR20.36993717
128ERBB20.35281187

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.46809076
2Synaptic vesicle cycle_Homo sapiens_hsa047212.99239488
3* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.89882200
4GABAergic synapse_Homo sapiens_hsa047272.88358577
5Circadian entrainment_Homo sapiens_hsa047132.80383312
6* Glutamatergic synapse_Homo sapiens_hsa047242.78843769
7* Long-term potentiation_Homo sapiens_hsa047202.70114352
8Morphine addiction_Homo sapiens_hsa050322.65453741
9Amphetamine addiction_Homo sapiens_hsa050312.43236987
10Olfactory transduction_Homo sapiens_hsa047402.40264096
11Salivary secretion_Homo sapiens_hsa049702.30540836
12* Taste transduction_Homo sapiens_hsa047422.08053251
13Dopaminergic synapse_Homo sapiens_hsa047282.05364832
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.04549077
15* Long-term depression_Homo sapiens_hsa047301.98208566
16Gastric acid secretion_Homo sapiens_hsa049711.95371119
17Insulin secretion_Homo sapiens_hsa049111.92274386
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84438140
19Cholinergic synapse_Homo sapiens_hsa047251.78503081
20* Calcium signaling pathway_Homo sapiens_hsa040201.73032994
21Renin secretion_Homo sapiens_hsa049241.71073828
22Serotonergic synapse_Homo sapiens_hsa047261.70516084
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70281970
24Oxytocin signaling pathway_Homo sapiens_hsa049211.62547428
25Cocaine addiction_Homo sapiens_hsa050301.61109391
26Cardiac muscle contraction_Homo sapiens_hsa042601.57590005
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43734911
28Collecting duct acid secretion_Homo sapiens_hsa049661.41356277
29GnRH signaling pathway_Homo sapiens_hsa049121.37597020
30cAMP signaling pathway_Homo sapiens_hsa040241.34851927
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26473106
32Type II diabetes mellitus_Homo sapiens_hsa049301.24549137
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.23969635
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21967655
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.18343710
36* Gap junction_Homo sapiens_hsa045401.16420062
37* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.15254088
38Pancreatic secretion_Homo sapiens_hsa049721.11107630
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09348110
40* Estrogen signaling pathway_Homo sapiens_hsa049151.06665162
41Dilated cardiomyopathy_Homo sapiens_hsa054141.03741431
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00473672
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.96548040
44Alzheimers disease_Homo sapiens_hsa050100.91250487
45Melanogenesis_Homo sapiens_hsa049160.91111133
46Thyroid hormone synthesis_Homo sapiens_hsa049180.91087421
47Axon guidance_Homo sapiens_hsa043600.86342755
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.82163078
49Oxidative phosphorylation_Homo sapiens_hsa001900.81732336
50ErbB signaling pathway_Homo sapiens_hsa040120.75982942
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.75479411
52Glioma_Homo sapiens_hsa052140.74354523
53Vibrio cholerae infection_Homo sapiens_hsa051100.74030963
54Dorso-ventral axis formation_Homo sapiens_hsa043200.73875549
55Oocyte meiosis_Homo sapiens_hsa041140.73658584
56* Phospholipase D signaling pathway_Homo sapiens_hsa040720.73652614
57Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.73070950
58ABC transporters_Homo sapiens_hsa020100.68232967
59Phototransduction_Homo sapiens_hsa047440.67857062
60Fatty acid biosynthesis_Homo sapiens_hsa000610.67734758
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67338030
62Regulation of autophagy_Homo sapiens_hsa041400.66218682
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66057514
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64759614
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64572639
66MAPK signaling pathway_Homo sapiens_hsa040100.64102836
67Choline metabolism in cancer_Homo sapiens_hsa052310.63562429
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.61312374
69Inositol phosphate metabolism_Homo sapiens_hsa005620.61098234
70Parkinsons disease_Homo sapiens_hsa050120.60734840
71Nitrogen metabolism_Homo sapiens_hsa009100.60331910
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55777266
73Bile secretion_Homo sapiens_hsa049760.55403745
74Maturity onset diabetes of the young_Homo sapiens_hsa049500.55363912
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.54395620
76Glucagon signaling pathway_Homo sapiens_hsa049220.54380764
77Circadian rhythm_Homo sapiens_hsa047100.52128447
78Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51437042
79Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46785679
80Huntingtons disease_Homo sapiens_hsa050160.46572357
81Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44219374
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43377514
83Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42722534
84Rap1 signaling pathway_Homo sapiens_hsa040150.41841893
85Ras signaling pathway_Homo sapiens_hsa040140.40741332
86VEGF signaling pathway_Homo sapiens_hsa043700.39039888
87Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39030274
88Alcoholism_Homo sapiens_hsa050340.38488522
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.38237073
90African trypanosomiasis_Homo sapiens_hsa051430.37736217
91beta-Alanine metabolism_Homo sapiens_hsa004100.37514107
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37273411
93Ovarian steroidogenesis_Homo sapiens_hsa049130.37113622
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.36546907
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36223053
96Ether lipid metabolism_Homo sapiens_hsa005650.35891541
97Type I diabetes mellitus_Homo sapiens_hsa049400.35671832
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33735189
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32998638
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31446837
101Glycerolipid metabolism_Homo sapiens_hsa005610.31035928
102Glycerophospholipid metabolism_Homo sapiens_hsa005640.30272542
103Vitamin B6 metabolism_Homo sapiens_hsa007500.29446459
104Butanoate metabolism_Homo sapiens_hsa006500.28145752
105Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.28034719
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.27831045
107Linoleic acid metabolism_Homo sapiens_hsa005910.27810751
108mTOR signaling pathway_Homo sapiens_hsa041500.27716106
109Propanoate metabolism_Homo sapiens_hsa006400.26972227
110Wnt signaling pathway_Homo sapiens_hsa043100.26811845
111Endocytosis_Homo sapiens_hsa041440.26736099
112Mineral absorption_Homo sapiens_hsa049780.26346143
113Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24812568
114Chemokine signaling pathway_Homo sapiens_hsa040620.24671444
115Arginine and proline metabolism_Homo sapiens_hsa003300.22137181
116Primary bile acid biosynthesis_Homo sapiens_hsa001200.17169402
117Sphingolipid metabolism_Homo sapiens_hsa006000.16212201
118Fatty acid elongation_Homo sapiens_hsa000620.13156058
119alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.12627813

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