GRIK1

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: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1short-term memory (GO:0007614)5.31523302
2pyrimidine nucleobase catabolic process (GO:0006208)5.13815167
3neuron cell-cell adhesion (GO:0007158)5.12477118
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.93631951
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.85972836
6neuronal action potential (GO:0019228)4.83050340
7synaptic vesicle exocytosis (GO:0016079)4.81311891
8protein localization to synapse (GO:0035418)4.76108137
9regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.75101748
10response to pheromone (GO:0019236)4.74266416
11cerebellar granule cell differentiation (GO:0021707)4.37603510
12glutamate secretion (GO:0014047)4.35684556
13vocalization behavior (GO:0071625)4.32924280
14regulation of synaptic vesicle exocytosis (GO:2000300)4.26420430
15presynaptic membrane organization (GO:0097090)4.18500431
16C4-dicarboxylate transport (GO:0015740)4.18342794
17urinary tract smooth muscle contraction (GO:0014848)4.17288168
18presynaptic membrane assembly (GO:0097105)4.13993706
19neuronal action potential propagation (GO:0019227)4.12585666
20membrane depolarization during action potential (GO:0086010)4.09411528
21positive regulation of phosphoprotein phosphatase activity (GO:0032516)4.08199451
22negative regulation of dendrite morphogenesis (GO:0050774)4.05320900
23synaptic vesicle maturation (GO:0016188)4.04790369
24nucleobase catabolic process (GO:0046113)4.02747998
25positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.98403624
26positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.96324360
27behavioral response to nicotine (GO:0035095)3.91332749
28response to histamine (GO:0034776)3.83443198
29* regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.83355086
30proline transport (GO:0015824)3.82524730
31mating behavior (GO:0007617)3.80286061
32regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.78496162
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.77397261
34cell migration in hindbrain (GO:0021535)3.71669373
35cerebellar Purkinje cell layer development (GO:0021680)3.70940835
36detection of temperature stimulus involved in sensory perception of pain (GO:0050965)3.64402606
37detection of temperature stimulus involved in sensory perception (GO:0050961)3.64402606
38negative regulation of microtubule polymerization (GO:0031115)3.62494289
39gamma-aminobutyric acid transport (GO:0015812)3.61754472
40neurotransmitter secretion (GO:0007269)3.61419057
41regulation of synaptic vesicle transport (GO:1902803)3.61366733
42retina layer formation (GO:0010842)3.59181387
43detection of temperature stimulus (GO:0016048)3.57304434
44G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.56339480
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.56187987
46neurofilament cytoskeleton organization (GO:0060052)3.54204309
47cellular potassium ion homeostasis (GO:0030007)3.53985636
48regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.52505199
49* neuron-neuron synaptic transmission (GO:0007270)3.51637045
50neurotransmitter catabolic process (GO:0042135)3.46688384
51positive regulation of action potential (GO:0045760)3.45153700
52cell differentiation in hindbrain (GO:0021533)3.45129610
53regulation of glutamate receptor signaling pathway (GO:1900449)3.45068253
54layer formation in cerebral cortex (GO:0021819)3.44837581
55behavioral response to cocaine (GO:0048148)3.43363397
56negative regulation of dendrite development (GO:2000171)3.40035525
57* synaptic transmission, glutamatergic (GO:0035249)3.39753302
58adult walking behavior (GO:0007628)3.38890644
59neuron recognition (GO:0008038)3.36827664
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.36293035
61retinal ganglion cell axon guidance (GO:0031290)3.35341848
62auditory behavior (GO:0031223)3.28036342
63* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.25198908
64synapse assembly (GO:0007416)3.24198950
65anterograde axon cargo transport (GO:0008089)3.23148495
66regulation of dopamine secretion (GO:0014059)3.20193767
67* ionotropic glutamate receptor signaling pathway (GO:0035235)3.18606064
68* membrane depolarization (GO:0051899)3.18059743
69regulation of dendritic spine morphogenesis (GO:0061001)3.16493108
70positive regulation of synapse assembly (GO:0051965)3.15064951
71transmission of nerve impulse (GO:0019226)3.14056625
72synaptic transmission, cholinergic (GO:0007271)3.12943123
73innervation (GO:0060384)3.11952715
74* regulation of postsynaptic membrane potential (GO:0060078)3.11217123
75positive regulation of potassium ion transmembrane transport (GO:1901381)3.11069429
76long-term memory (GO:0007616)3.10442938
77neurotransmitter transport (GO:0006836)3.09905822
78axon cargo transport (GO:0008088)3.08301169
79locomotory exploration behavior (GO:0035641)3.06261607
80postsynaptic membrane organization (GO:0001941)3.06128079
81cerebellar Purkinje cell differentiation (GO:0021702)3.05831998
82* glutamate receptor signaling pathway (GO:0007215)3.05344852
83protein localization to cilium (GO:0061512)3.04863412
84gamma-aminobutyric acid signaling pathway (GO:0007214)3.04566709
85neuromuscular synaptic transmission (GO:0007274)3.04304720
86action potential (GO:0001508)3.02487919
87regulation of action potential (GO:0098900)3.01804740
88* membrane hyperpolarization (GO:0060081)2.98999846
89mitochondrion transport along microtubule (GO:0047497)2.98808707
90establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.98808707
91axon regeneration (GO:0031103)2.98760587
92potassium ion homeostasis (GO:0055075)2.96733034
93* regulation of synaptic transmission, glutamatergic (GO:0051966)2.95720007
94regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.94261272
95negative regulation of heart rate (GO:0010459)2.94147500
96regulation of vesicle fusion (GO:0031338)2.94066681
97chemosensory behavior (GO:0007635)2.93467403
98regulation of neurotransmitter secretion (GO:0046928)2.91860705
99synaptic vesicle endocytosis (GO:0048488)2.91723827
100sodium ion export (GO:0071436)2.91581191
101positive regulation of cardiac muscle hypertrophy (GO:0010613)2.91406240
102positive regulation of muscle hypertrophy (GO:0014742)2.91406240
103neuronal ion channel clustering (GO:0045161)2.90606168
104neurotransmitter-gated ion channel clustering (GO:0072578)2.90006209
105establishment of mitochondrion localization (GO:0051654)2.89936108
106axon development (GO:0061564)2.89443731
107positive regulation of vesicle fusion (GO:0031340)2.88911859
108calcium ion-dependent exocytosis (GO:0017156)2.86774036
109prepulse inhibition (GO:0060134)2.86076849
110cellular sodium ion homeostasis (GO:0006883)2.85967506
111response to auditory stimulus (GO:0010996)2.85783351
112* synaptic transmission (GO:0007268)2.85030743
113* adult behavior (GO:0030534)2.85027798
114membrane repolarization (GO:0086009)2.84077647
115positive regulation of membrane potential (GO:0045838)2.82022314
116regulation of dopamine metabolic process (GO:0042053)2.81724676
117regulation of catecholamine metabolic process (GO:0042069)2.81724676
118dendrite morphogenesis (GO:0048813)2.80030785
119startle response (GO:0001964)2.79414223
120* positive regulation of synaptic transmission, GABAergic (GO:0032230)2.78978204
121regulation of neurotransmitter levels (GO:0001505)2.78847757
122exploration behavior (GO:0035640)2.78686500
123neuromuscular process controlling posture (GO:0050884)2.77566070
124regulation of neuronal synaptic plasticity (GO:0048168)2.76477166
125glycine transport (GO:0015816)2.74440105
126synaptic vesicle docking involved in exocytosis (GO:0016081)2.74163855
127tachykinin receptor signaling pathway (GO:0007217)2.73943318
128neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.73554314
129synaptic vesicle transport (GO:0048489)2.73453022
130establishment of synaptic vesicle localization (GO:0097480)2.73453022
131membrane assembly (GO:0071709)2.72651921
132response to cocaine (GO:0042220)2.71154996
133ATP hydrolysis coupled proton transport (GO:0015991)2.70466254
134energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.70466254
135regulation of synapse structural plasticity (GO:0051823)2.70291542
136glycosphingolipid biosynthetic process (GO:0006688)2.70130939
137axonal fasciculation (GO:0007413)2.68795019
138regulation of neurotransmitter transport (GO:0051588)2.67567310
139sodium ion transmembrane transport (GO:0035725)2.67552096
140detection of calcium ion (GO:0005513)2.67093814

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.01863121
2GBX2_23144817_ChIP-Seq_PC3_Human4.02473619
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.03753852
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02306552
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01940706
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.95855149
7TAF15_26573619_Chip-Seq_HEK293_Human2.94273098
8RBPJ_22232070_ChIP-Seq_NCS_Mouse2.78359736
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74942012
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.62359020
11* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59697821
12* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59697821
13* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.50797130
14* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50534874
15* EED_16625203_ChIP-ChIP_MESCs_Mouse2.46644509
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42681987
17REST_21632747_ChIP-Seq_MESCs_Mouse2.42258914
18* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.35252592
19* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31659620
20VDR_22108803_ChIP-Seq_LS180_Human2.23985014
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.15734410
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.12488835
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11491864
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.06121529
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.03572724
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.02002122
27CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00955482
28RNF2_27304074_Chip-Seq_ESCs_Mouse1.98138487
29CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.97818005
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.96596417
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94955922
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.81998797
33P300_19829295_ChIP-Seq_ESCs_Human1.77432171
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.76574683
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.72936378
36TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.68040643
37IGF1R_20145208_ChIP-Seq_DFB_Human1.65010596
38DROSHA_22980978_ChIP-Seq_HELA_Human1.64589743
39AR_21572438_ChIP-Seq_LNCaP_Human1.63740075
40* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.61165643
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60195051
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55050243
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.53796887
44RARB_27405468_Chip-Seq_BRAIN_Mouse1.52915173
45* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51051160
46TOP2B_26459242_ChIP-Seq_MCF-7_Human1.50994730
47RNF2_27304074_Chip-Seq_NSC_Mouse1.46061901
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44708414
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44514056
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43763341
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.42789582
52* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42419940
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.41549311
54ZNF274_21170338_ChIP-Seq_K562_Hela1.41492874
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.38480109
56IKZF1_21737484_ChIP-ChIP_HCT116_Human1.34795625
57AR_25329375_ChIP-Seq_VCAP_Human1.33428604
58KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.32109394
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.32077180
60SOX2_21211035_ChIP-Seq_LN229_Gbm1.29535194
61EWS_26573619_Chip-Seq_HEK293_Human1.29393901
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27751981
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.27690924
64* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27569639
65MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26984265
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.23213914
67* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23096163
68CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.21808482
69STAT3_23295773_ChIP-Seq_U87_Human1.20218252
70P53_22127205_ChIP-Seq_FIBROBLAST_Human1.19378613
71FLI1_27457419_Chip-Seq_LIVER_Mouse1.17845703
72CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15900529
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14691223
74AHR_22903824_ChIP-Seq_MCF-7_Human1.14678604
75PCGF2_27294783_Chip-Seq_ESCs_Mouse1.14074971
76* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13540539
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12144552
78CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.11976706
79FUS_26573619_Chip-Seq_HEK293_Human1.11803027
80SMAD_19615063_ChIP-ChIP_OVARY_Human1.08924531
81ER_23166858_ChIP-Seq_MCF-7_Human1.08718734
82* RING1B_27294783_Chip-Seq_ESCs_Mouse1.08372477
83ARNT_22903824_ChIP-Seq_MCF-7_Human1.07319634
84SOX9_26525672_Chip-Seq_HEART_Mouse1.06974121
85* PRDM14_20953172_ChIP-Seq_ESCs_Human1.06049752
86SALL1_21062744_ChIP-ChIP_HESCs_Human1.05766288
87YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03771694
88JUN_21703547_ChIP-Seq_K562_Human1.03685519
89* TAL1_26923725_Chip-Seq_HPCs_Mouse1.03037518
90AR_19668381_ChIP-Seq_PC3_Human1.02276725
91EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01253106
92TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01178669
93POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01178669
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00707742
95* RUNX2_22187159_ChIP-Seq_PCA_Human0.99521466
96* TCF4_23295773_ChIP-Seq_U87_Human0.99094274
97CBP_20019798_ChIP-Seq_JUKART_Human0.98812371
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.98812371
99RING1B_27294783_Chip-Seq_NPCs_Mouse0.98094951
100RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97351234
101EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97334819
102SMAD3_21741376_ChIP-Seq_ESCs_Human0.97037034
103* KDM2B_26808549_Chip-Seq_REH_Human0.96997697
104NANOG_18555785_Chip-Seq_ESCs_Mouse0.96537466
105* BCAT_22108803_ChIP-Seq_LS180_Human0.96011280
106MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95227585
107BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.95138568
108MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91357141
109ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.91194665
110* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.90071613
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89723978
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.89505046
113NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88458477
114SMAD4_21741376_ChIP-Seq_EPCs_Human0.86966231
115STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.86871991
116GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.86674799
117ZNF217_24962896_ChIP-Seq_MCF-7_Human0.86319055
118FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.86218431

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001968_abnormal_touch/_nociception5.94526445
2MP0002736_abnormal_nociception_after5.84120124
3* MP0002735_abnormal_chemical_nociception4.76385585
4MP0003880_abnormal_central_pattern4.02666071
5MP0004859_abnormal_synaptic_plasticity3.77779866
6MP0002734_abnormal_mechanical_nocicepti3.57500635
7MP0002733_abnormal_thermal_nociception3.42599280
8MP0004270_analgesia3.38743614
9* MP0003635_abnormal_synaptic_transmissio3.02631663
10MP0006276_abnormal_autonomic_nervous3.01361331
11* MP0001970_abnormal_pain_threshold2.86140049
12* MP0002272_abnormal_nervous_system2.83564948
13MP0005423_abnormal_somatic_nervous2.74279298
14MP0001986_abnormal_taste_sensitivity2.64882517
15MP0009046_muscle_twitch2.63997546
16MP0002064_seizures2.59738182
17MP0009745_abnormal_behavioral_response2.44141274
18MP0004858_abnormal_nervous_system2.36823151
19MP0002063_abnormal_learning/memory/cond2.35621096
20MP0002067_abnormal_sensory_capabilities2.33584304
21MP0002572_abnormal_emotion/affect_behav2.18773001
22MP0002184_abnormal_innervation2.12286564
23MP0001486_abnormal_startle_reflex1.99437032
24MP0001440_abnormal_grooming_behavior1.89877017
25MP0003329_amyloid_beta_deposits1.72250037
26MP0001984_abnormal_olfaction1.70526090
27MP0000778_abnormal_nervous_system1.69299404
28MP0005551_abnormal_eye_electrophysiolog1.68747845
29MP0004811_abnormal_neuron_physiology1.57080192
30MP0001529_abnormal_vocalization1.55876462
31MP0000955_abnormal_spinal_cord1.55767963
32MP0002557_abnormal_social/conspecific_i1.49009892
33MP0003121_genomic_imprinting1.48435855
34MP0002882_abnormal_neuron_morphology1.47211046
35MP0001501_abnormal_sleep_pattern1.45442885
36MP0004142_abnormal_muscle_tone1.41519172
37MP0004924_abnormal_behavior1.39312294
38MP0005386_behavior/neurological_phenoty1.39312294
39MP0001905_abnormal_dopamine_level1.32072777
40MP0003122_maternal_imprinting1.27065113
41MP0002229_neurodegeneration1.23650600
42MP0002066_abnormal_motor_capabilities/c1.23378989
43MP0008569_lethality_at_weaning1.21773161
44MP0002751_abnormal_autonomic_nervous1.21075447
45MP0005645_abnormal_hypothalamus_physiol1.19916071
46MP0004742_abnormal_vestibular_system1.13607847
47MP0005171_absent_coat_pigmentation1.12760527
48MP0002752_abnormal_somatic_nervous1.10942662
49MP0001188_hyperpigmentation1.07078755
50MP0003634_abnormal_glial_cell1.06527138
51MP0000920_abnormal_myelination1.06223011
52MP0002837_dystrophic_cardiac_calcinosis1.02230106
53MP0002638_abnormal_pupillary_reflex1.02133885
54MP0005187_abnormal_penis_morphology0.99136462
55MP0000751_myopathy0.98467551
56MP0003633_abnormal_nervous_system0.98210024
57MP0006072_abnormal_retinal_apoptosis0.96086242
58MP0001502_abnormal_circadian_rhythm0.96063419
59MP0006035_abnormal_mitochondrial_morpho0.94963745
60MP0003879_abnormal_hair_cell0.94527823
61MP0003136_yellow_coat_color0.93311459
62MP0008877_abnormal_DNA_methylation0.91367476
63MP0003631_nervous_system_phenotype0.90528974
64MP0002822_catalepsy0.89524569
65MP0005253_abnormal_eye_physiology0.89094747
66MP0002909_abnormal_adrenal_gland0.86020825
67MP0009780_abnormal_chondrocyte_physiolo0.85417016
68MP0002152_abnormal_brain_morphology0.84084153
69MP0000534_abnormal_ureter_morphology0.83916797
70MP0004885_abnormal_endolymph0.83797399
71MP0001485_abnormal_pinna_reflex0.83074476
72MP0001963_abnormal_hearing_physiology0.80217418
73MP0002090_abnormal_vision0.79809495
74MP0004133_heterotaxia0.79260095
75MP0000604_amyloidosis0.77706523
76MP0003861_abnormal_nervous_system0.74395084
77MP0001270_distended_abdomen0.74364016
78MP0005646_abnormal_pituitary_gland0.73890668
79MP0005499_abnormal_olfactory_system0.73423344
80MP0005394_taste/olfaction_phenotype0.73423344
81MP0004147_increased_porphyrin_level0.73312320
82MP0001177_atelectasis0.72674310
83MP0003632_abnormal_nervous_system0.72353228
84MP0009379_abnormal_foot_pigmentation0.71605363
85MP0008874_decreased_physiological_sensi0.70871297
86MP0001664_abnormal_digestion0.70010537
87MP0004085_abnormal_heartbeat0.68830658
88MP0004145_abnormal_muscle_electrophysio0.67488488
89MP0001299_abnormal_eye_distance/0.66700548
90MP0003137_abnormal_impulse_conducting0.66420736
91MP0010386_abnormal_urinary_bladder0.66017558
92MP0000579_abnormal_nail_morphology0.65769863
93MP0002069_abnormal_eating/drinking_beha0.65418418
94MP0004043_abnormal_pH_regulation0.65243292
95MP0003011_delayed_dark_adaptation0.64775520
96MP0008872_abnormal_physiological_respon0.64283834
97MP0003938_abnormal_ear_development0.63430953
98MP0000569_abnormal_digit_pigmentation0.62765341
99MP0003890_abnormal_embryonic-extraembry0.62472583
100MP0000631_abnormal_neuroendocrine_gland0.61782832
101MP0002876_abnormal_thyroid_physiology0.61016512
102MP0003787_abnormal_imprinting0.60213642
103MP0005195_abnormal_posterior_eye0.60168486
104MP0005595_abnormal_vascular_smooth0.59891057
105MP0004215_abnormal_myocardial_fiber0.58875539
106MP0008875_abnormal_xenobiotic_pharmacok0.58581132
107MP0000747_muscle_weakness0.56970455
108MP0005535_abnormal_body_temperature0.56745737
109MP0001943_abnormal_respiration0.54880168
110MP0002282_abnormal_trachea_morphology0.54763071
111MP0004036_abnormal_muscle_relaxation0.53611576
112MP0008260_abnormal_autophagy0.52928793
113MP0002081_perinatal_lethality0.52323669
114MP0002082_postnatal_lethality0.52225809
115MP0010770_preweaning_lethality0.52225809
116MP0002653_abnormal_ependyma_morphology0.52200010
117MP0005409_darkened_coat_color0.50818193
118MP0000538_abnormal_urinary_bladder0.50276215
119MP0005083_abnormal_biliary_tract0.47369799
120MP0008789_abnormal_olfactory_epithelium0.47054414
121MP0000026_abnormal_inner_ear0.46439874
122MP0001348_abnormal_lacrimal_gland0.46292459
123MP0008961_abnormal_basal_metabolism0.43781546

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.30228128
2Myokymia (HP:0002411)5.21289701
3Focal seizures (HP:0007359)4.88613643
4Atonic seizures (HP:0010819)4.73821469
5Ulnar claw (HP:0001178)4.59442648
6Febrile seizures (HP:0002373)4.29112784
7Insidious onset (HP:0003587)3.97007678
8Termporal pattern (HP:0011008)3.97007678
9Pheochromocytoma (HP:0002666)3.90110944
10Epileptic encephalopathy (HP:0200134)3.82317561
11Absence seizures (HP:0002121)3.77325600
12Dialeptic seizures (HP:0011146)3.75455265
13Action tremor (HP:0002345)3.66606428
14Visual hallucinations (HP:0002367)3.66212547
15Progressive cerebellar ataxia (HP:0002073)3.54966569
16Neuroendocrine neoplasm (HP:0100634)3.52414540
17Limb dystonia (HP:0002451)3.45607843
18Dysdiadochokinesis (HP:0002075)3.44454661
19Ankle clonus (HP:0011448)3.28454187
20Abnormality of pain sensation (HP:0010832)3.25660217
21Impaired pain sensation (HP:0007328)3.25660217
22Supranuclear gaze palsy (HP:0000605)3.20645642
23Dysautonomia (HP:0002459)3.18435947
24Generalized tonic-clonic seizures (HP:0002069)3.16434736
25Failure to thrive in infancy (HP:0001531)3.04018473
26Status epilepticus (HP:0002133)2.96580792
27Intention tremor (HP:0002080)2.96087723
28Congenital stationary night blindness (HP:0007642)2.93259554
29Progressive inability to walk (HP:0002505)2.90969273
30Aplasia/Hypoplasia of the brainstem (HP:0007362)2.87078789
31Hypoplasia of the brainstem (HP:0002365)2.87078789
32Retinal dysplasia (HP:0007973)2.80645426
33Abnormality of the corticospinal tract (HP:0002492)2.77787041
34Abnormal eating behavior (HP:0100738)2.70994453
35Segmental peripheral demyelination/remyelination (HP:0003481)2.69046234
36Spastic gait (HP:0002064)2.67577561
37Polyphagia (HP:0002591)2.66562859
38Truncal ataxia (HP:0002078)2.64548598
39Dysmetric saccades (HP:0000641)2.57483800
40Nephrogenic diabetes insipidus (HP:0009806)2.57261151
41Morphological abnormality of the pyramidal tract (HP:0002062)2.56548909
42Hypoventilation (HP:0002791)2.55613135
43Myotonia (HP:0002486)2.53406423
44Steppage gait (HP:0003376)2.53387228
45Abnormal hair whorl (HP:0010721)2.50851787
46Hammertoe (HP:0001765)2.45388894
47Impaired smooth pursuit (HP:0007772)2.45004145
48Genital tract atresia (HP:0001827)2.42309469
49Urinary bladder sphincter dysfunction (HP:0002839)2.39723423
50Central scotoma (HP:0000603)2.39520352
51Amblyopia (HP:0000646)2.38621488
52Urinary urgency (HP:0000012)2.36757360
53Vaginal atresia (HP:0000148)2.35935527
54Postural tremor (HP:0002174)2.32948959
55Acute necrotizing encephalopathy (HP:0006965)2.31597286
56Mutism (HP:0002300)2.31251082
57Horizontal nystagmus (HP:0000666)2.30719699
58Inability to walk (HP:0002540)2.30369385
59Gait imbalance (HP:0002141)2.27591945
60Lower limb muscle weakness (HP:0007340)2.26483230
61Progressive macrocephaly (HP:0004481)2.26374063
62Abnormality of the vocal cords (HP:0008777)2.23860309
63Onion bulb formation (HP:0003383)2.23552155
64Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.22511028
65Pancreatic fibrosis (HP:0100732)2.20918638
66True hermaphroditism (HP:0010459)2.15417825
67Foot dorsiflexor weakness (HP:0009027)2.15115088
68Broad-based gait (HP:0002136)2.15023322
69Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.14120108
70Hemiplegia (HP:0002301)2.13371981
71Abnormality of macular pigmentation (HP:0008002)2.10187630
72Impaired vibration sensation in the lower limbs (HP:0002166)2.09947302
73Abnormal mitochondria in muscle tissue (HP:0008316)2.09713858
74Hyperventilation (HP:0002883)2.07101699
75Abnormality of ocular smooth pursuit (HP:0000617)2.06866688
76Abnormal autonomic nervous system physiology (HP:0012332)2.06508589
77Molar tooth sign on MRI (HP:0002419)2.06292535
78Abnormality of midbrain morphology (HP:0002418)2.06292535
79EEG with generalized epileptiform discharges (HP:0011198)2.05929205
80Neurofibrillary tangles (HP:0002185)2.05257010
81Epileptiform EEG discharges (HP:0011182)2.04406915
82Hypothermia (HP:0002045)2.04069382
83Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.02544071
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.02544071
85Esotropia (HP:0000565)2.02518470
86Lissencephaly (HP:0001339)2.01894036
87Pachygyria (HP:0001302)2.01787554
88Absent speech (HP:0001344)2.01766547
89Peripheral hypomyelination (HP:0007182)2.00964582
90Pancreatic cysts (HP:0001737)2.00812364
91Split foot (HP:0001839)2.00148215
92Specific learning disability (HP:0001328)1.97804362
93Type II lissencephaly (HP:0007260)1.97300865
94Depression (HP:0000716)1.95687896
95Impaired social interactions (HP:0000735)1.95331382
96Abnormal social behavior (HP:0012433)1.95331382
97Scanning speech (HP:0002168)1.94664126
98Sensory axonal neuropathy (HP:0003390)1.94241734
99Gaze-evoked nystagmus (HP:0000640)1.94081399
100Poor eye contact (HP:0000817)1.93549822
101Genetic anticipation (HP:0003743)1.93362551
102Abnormality of binocular vision (HP:0011514)1.93161043
103Diplopia (HP:0000651)1.93161043
104Oligodactyly (hands) (HP:0001180)1.92532353
105Dysmetria (HP:0001310)1.91801848
106Drooling (HP:0002307)1.90351462
107Excessive salivation (HP:0003781)1.90351462
108Medial flaring of the eyebrow (HP:0010747)1.90125410
109Abnormality of the foot musculature (HP:0001436)1.89522285
110Severe visual impairment (HP:0001141)1.89178023
111Hemiparesis (HP:0001269)1.88516254
112Nephronophthisis (HP:0000090)1.88075835
113Hypsarrhythmia (HP:0002521)1.87237612
114Abnormality of the parathyroid morphology (HP:0011766)1.87083489
115Congenital primary aphakia (HP:0007707)1.86037437
116Neoplasm of the peripheral nervous system (HP:0100007)1.85328367
117Akinesia (HP:0002304)1.82717066
118Distal sensory impairment (HP:0002936)1.82233004
119Anxiety (HP:0000739)1.80740207
120Postural instability (HP:0002172)1.80427810
121Agitation (HP:0000713)1.79902439
122Amyotrophic lateral sclerosis (HP:0007354)1.79644668
123Optic nerve hypoplasia (HP:0000609)1.77914431
124Cutaneous finger syndactyly (HP:0010554)1.77552917
125Postaxial hand polydactyly (HP:0001162)1.75402994
126Poor coordination (HP:0002370)1.72472180
127Calf muscle hypertrophy (HP:0008981)1.67151032
128Abnormality of the labia minora (HP:0012880)1.66988375
129Acute encephalopathy (HP:0006846)1.65953732
130Hypoplasia of the corpus callosum (HP:0002079)1.65627265
131Myelomeningocele (HP:0002475)1.59265608
132Protruding tongue (HP:0010808)1.57870082

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K93.54930447
2NTRK33.48218334
3MARK13.37581205
4MAP3K43.09509151
5CASK2.93397781
6MAP3K122.87423732
7PINK12.82232927
8MINK12.65540175
9MAP2K72.63122861
10GRK52.57025828
11KSR22.29123878
12NTRK12.10645872
13MAP2K41.99141951
14PNCK1.98662167
15MAPK131.93933054
16RIPK41.83499213
17PAK61.83128712
18BMPR1B1.72228544
19ERBB31.68999353
20PHKG11.68971340
21PHKG21.68971340
22NTRK21.64951302
23LIMK11.61927438
24UHMK11.54260871
25LMTK21.53452801
26MAP3K21.52573796
27DAPK21.47708109
28ARAF1.41442254
29CDK51.38310288
30SGK2231.34013930
31SGK4941.34013930
32RET1.23169076
33FES1.22474935
34FER1.21686216
35CDK141.18356477
36STK391.17516055
37LATS21.17077536
38CSNK1G21.14115988
39PLK21.10846771
40EPHA41.08724716
41DYRK21.03311986
42CAMK2A1.02821524
43TNIK1.02555309
44ACVR1B1.02142724
45PRKCG1.01646702
46STK110.97329294
47MAPKAPK50.97156399
48CSNK1G30.95872666
49TRIM280.95686162
50BCR0.94585430
51CDK180.93817336
52EPHA30.92911980
53SIK20.91618214
54CAMK1D0.90377125
55CDK150.90355378
56OXSR10.90297297
57TYRO30.89420960
58DYRK30.89167794
59PRKCE0.83863227
60PAK30.82852180
61CDK11A0.80605949
62KSR10.80238694
63WNK10.79735941
64SGK20.79420217
65ADRBK10.77350636
66CSNK1A1L0.77260648
67PRKD30.77031228
68CAMK2D0.75525375
69CAMK2B0.75097679
70PKN10.74761297
71NME10.74158365
72RPS6KA20.72523882
73ROCK20.70530207
74MAP2K10.69028581
75CCNB10.68985033
76DYRK1A0.68175139
77MAP3K10.67712028
78PRKCH0.66781848
79CDK190.66707166
80WNK40.65490391
81EPHB20.63612532
82ERBB40.63455673
83PRKCZ0.63217754
84FGFR20.62547658
85CDK30.61974042
86CAMK1G0.61818711
87CAMK2G0.60328121
88SIK30.59568401
89MARK30.59406930
90GRK70.58381206
91DAPK10.58055883
92FRK0.57120870
93MARK20.56973028
94TAOK10.56052103
95MAP4K20.54034221
96ADRBK20.53784650
97MAPK120.52151953
98CAMK10.51611755
99PRKACA0.51181882
100CSNK1G10.50852692
101CSNK1E0.48271699
102CAMKK20.48085993
103RPS6KA30.46810743
104GRK10.46441670
105SGK10.45973978
106MAPK100.45092089
107CAMKK10.44607729
108MAPK150.43236965
109STK380.43193976
110YES10.42786545
111RAF10.42727935
112CDC42BPA0.40451132
113TSSK60.40233263
114WNK30.40194518
115SGK30.39964518
116PRKCB0.39839347
117FYN0.39334255
118CSNK1D0.38864516
119CSNK1A10.38742449
120BRAF0.38716671
121SIK10.38368084
122* PRKCA0.37822812
123PRKG10.37793394
124ROCK10.37763288
125PRKDC0.37480581
126CAMK40.36316426
127ERBB20.36041709
128PRKACB0.34702587

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.90917132
2Synaptic vesicle cycle_Homo sapiens_hsa047213.79681444
3GABAergic synapse_Homo sapiens_hsa047272.57575077
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55135723
5Collecting duct acid secretion_Homo sapiens_hsa049662.45905593
6Nitrogen metabolism_Homo sapiens_hsa009102.32790499
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25920383
8Oxidative phosphorylation_Homo sapiens_hsa001902.21817879
9Morphine addiction_Homo sapiens_hsa050322.20156164
10Taste transduction_Homo sapiens_hsa047422.11249998
11Circadian entrainment_Homo sapiens_hsa047132.10284329
12Phototransduction_Homo sapiens_hsa047442.07337035
13* Glutamatergic synapse_Homo sapiens_hsa047242.04467886
14Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.95720727
15Olfactory transduction_Homo sapiens_hsa047401.94309859
16Dopaminergic synapse_Homo sapiens_hsa047281.88442396
17Serotonergic synapse_Homo sapiens_hsa047261.85328449
18Long-term potentiation_Homo sapiens_hsa047201.84480207
19Cardiac muscle contraction_Homo sapiens_hsa042601.82041785
20Insulin secretion_Homo sapiens_hsa049111.80390869
21Parkinsons disease_Homo sapiens_hsa050121.73815752
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.71869695
23Salivary secretion_Homo sapiens_hsa049701.71169910
24Cholinergic synapse_Homo sapiens_hsa047251.70910337
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.63959562
26Long-term depression_Homo sapiens_hsa047301.63700576
27Alzheimers disease_Homo sapiens_hsa050101.55987187
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.52864469
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.51936758
30Amphetamine addiction_Homo sapiens_hsa050311.51391349
31Vibrio cholerae infection_Homo sapiens_hsa051101.48122781
32Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.39820804
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.36427228
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.32987562
35Protein export_Homo sapiens_hsa030601.31909332
36Axon guidance_Homo sapiens_hsa043601.31661190
37* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.31566281
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30081035
39Calcium signaling pathway_Homo sapiens_hsa040201.29012153
40Circadian rhythm_Homo sapiens_hsa047101.29009724
41Gastric acid secretion_Homo sapiens_hsa049711.23991292
42Renin secretion_Homo sapiens_hsa049241.21295670
43Oxytocin signaling pathway_Homo sapiens_hsa049211.17445723
44Cocaine addiction_Homo sapiens_hsa050301.16909932
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.14367633
46Huntingtons disease_Homo sapiens_hsa050161.13797937
47Gap junction_Homo sapiens_hsa045401.13609125
48GnRH signaling pathway_Homo sapiens_hsa049121.09779800
49Aldosterone synthesis and secretion_Homo sapiens_hsa049251.08880144
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99719908
51Phosphatidylinositol signaling system_Homo sapiens_hsa040700.95370080
52Dorso-ventral axis formation_Homo sapiens_hsa043200.91599275
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.80885667
54ErbB signaling pathway_Homo sapiens_hsa040120.80132284
55Estrogen signaling pathway_Homo sapiens_hsa049150.79564803
56Steroid biosynthesis_Homo sapiens_hsa001000.78401882
57Melanogenesis_Homo sapiens_hsa049160.77389203
58Type II diabetes mellitus_Homo sapiens_hsa049300.74261445
59Phagosome_Homo sapiens_hsa041450.73426468
60Butanoate metabolism_Homo sapiens_hsa006500.72738889
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72698996
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72164327
63Rheumatoid arthritis_Homo sapiens_hsa053230.71488313
64cAMP signaling pathway_Homo sapiens_hsa040240.71155585
65Pancreatic secretion_Homo sapiens_hsa049720.70276946
66Glioma_Homo sapiens_hsa052140.68303782
67Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.68113612
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.67987482
69cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67640728
70Thyroid hormone synthesis_Homo sapiens_hsa049180.63135153
71Renin-angiotensin system_Homo sapiens_hsa046140.61309727
72Choline metabolism in cancer_Homo sapiens_hsa052310.57294218
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56349554
74Oocyte meiosis_Homo sapiens_hsa041140.53673289
75Ether lipid metabolism_Homo sapiens_hsa005650.53405908
76Dilated cardiomyopathy_Homo sapiens_hsa054140.52470169
77Fatty acid biosynthesis_Homo sapiens_hsa000610.51637062
78MAPK signaling pathway_Homo sapiens_hsa040100.51172509
79Hippo signaling pathway_Homo sapiens_hsa043900.50078769
80Regulation of autophagy_Homo sapiens_hsa041400.49654859
81Ras signaling pathway_Homo sapiens_hsa040140.46050277
82Glycerophospholipid metabolism_Homo sapiens_hsa005640.45644362
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44041921
84Alcoholism_Homo sapiens_hsa050340.44033414
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.43906358
86Melanoma_Homo sapiens_hsa052180.43852825
87Fatty acid elongation_Homo sapiens_hsa000620.42744798
88Endocytosis_Homo sapiens_hsa041440.40521503
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39783563
90Mineral absorption_Homo sapiens_hsa049780.39236823
91Bile secretion_Homo sapiens_hsa049760.38366334
92Rap1 signaling pathway_Homo sapiens_hsa040150.38091831
93Wnt signaling pathway_Homo sapiens_hsa043100.38061927
94Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37939744
95Basal cell carcinoma_Homo sapiens_hsa052170.36728962
96Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36512757
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36339798
98Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36114380
99Type I diabetes mellitus_Homo sapiens_hsa049400.33162383
100Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33108757
101Renal cell carcinoma_Homo sapiens_hsa052110.33074613
102Inositol phosphate metabolism_Homo sapiens_hsa005620.30592651
103Glycerolipid metabolism_Homo sapiens_hsa005610.30450890
104Endometrial cancer_Homo sapiens_hsa052130.30017595
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29877713
106Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.29750033
107VEGF signaling pathway_Homo sapiens_hsa043700.29367125
108Prion diseases_Homo sapiens_hsa050200.28311105
109Hedgehog signaling pathway_Homo sapiens_hsa043400.28261623
110Insulin signaling pathway_Homo sapiens_hsa049100.27968415
111Neurotrophin signaling pathway_Homo sapiens_hsa047220.27293877
112Ovarian steroidogenesis_Homo sapiens_hsa049130.27145014
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.26846435
114Glucagon signaling pathway_Homo sapiens_hsa049220.25182932
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22699849
116Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20734439
117alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19009688
118Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.18952161
119Tight junction_Homo sapiens_hsa045300.16959044
120TGF-beta signaling pathway_Homo sapiens_hsa043500.16085534

Most similar genes based on co-expression Upload to Enrichr

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