GRIK5

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 protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.49540473
2locomotory exploration behavior (GO:0035641)6.45963681
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.36968682
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.01748685
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.70689544
6vocalization behavior (GO:0071625)5.68103273
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.57583714
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.31004650
9regulation of glutamate receptor signaling pathway (GO:1900449)5.22196217
10glutamate secretion (GO:0014047)5.04548279
11synaptic vesicle exocytosis (GO:0016079)5.00507985
12layer formation in cerebral cortex (GO:0021819)4.90889319
13regulation of synapse structural plasticity (GO:0051823)4.85723403
14regulation of neuronal synaptic plasticity (GO:0048168)4.84305363
15protein localization to synapse (GO:0035418)4.81310928
16exploration behavior (GO:0035640)4.79309936
17dendritic spine morphogenesis (GO:0060997)4.76200667
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.73442838
19* regulation of synaptic vesicle exocytosis (GO:2000300)4.56558937
20presynaptic membrane assembly (GO:0097105)4.51577684
21neurotransmitter secretion (GO:0007269)4.43025378
22presynaptic membrane organization (GO:0097090)4.34658389
23* ionotropic glutamate receptor signaling pathway (GO:0035235)4.29900299
24neurotransmitter-gated ion channel clustering (GO:0072578)4.27775780
25cerebellar granule cell differentiation (GO:0021707)4.21383055
26neuron cell-cell adhesion (GO:0007158)4.17689410
27* regulation of synaptic vesicle transport (GO:1902803)4.10266627
28gamma-aminobutyric acid transport (GO:0015812)3.94741057
29positive regulation of membrane potential (GO:0045838)3.93458861
30long-term memory (GO:0007616)3.92171877
31* synaptic transmission, glutamatergic (GO:0035249)3.91932191
32regulation of dendritic spine morphogenesis (GO:0061001)3.91047730
33regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.87848149
34neuronal action potential propagation (GO:0019227)3.86193493
35auditory behavior (GO:0031223)3.84324162
36neuromuscular process controlling balance (GO:0050885)3.82984883
37proline transport (GO:0015824)3.81685436
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.81675934
39positive regulation of synaptic transmission, GABAergic (GO:0032230)3.76622496
40positive regulation of synapse maturation (GO:0090129)3.71316102
41activation of protein kinase A activity (GO:0034199)3.70359611
42positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.66849632
43* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.65694976
44* glutamate receptor signaling pathway (GO:0007215)3.64545883
45prepulse inhibition (GO:0060134)3.63109842
46sodium ion export (GO:0071436)3.62883953
47regulation of synaptic plasticity (GO:0048167)3.61941031
48* neuron-neuron synaptic transmission (GO:0007270)3.58416937
49cellular potassium ion homeostasis (GO:0030007)3.57754739
50establishment of mitochondrion localization (GO:0051654)3.57219475
51G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.52899071
52cell communication by electrical coupling (GO:0010644)3.50621764
53neuronal ion channel clustering (GO:0045161)3.49648864
54neuron recognition (GO:0008038)3.48849643
55response to auditory stimulus (GO:0010996)3.47503205
56regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.46911452
57dendrite morphogenesis (GO:0048813)3.46784742
58regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.44556327
59* regulation of postsynaptic membrane potential (GO:0060078)3.44354197
60neurotransmitter transport (GO:0006836)3.42968429
61dendritic spine organization (GO:0097061)3.42727301
62pyrimidine nucleobase catabolic process (GO:0006208)3.39534189
63postsynaptic membrane organization (GO:0001941)3.38020406
64glycine transport (GO:0015816)3.37999536
65positive regulation of neurotransmitter secretion (GO:0001956)3.37350913
66positive regulation of dendritic spine development (GO:0060999)3.35618142
67transmission of nerve impulse (GO:0019226)3.34654500
68amino acid import (GO:0043090)3.33699633
69positive regulation of neurotransmitter transport (GO:0051590)3.33233563
70cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.32481429
71axon ensheathment in central nervous system (GO:0032291)3.30417537
72central nervous system myelination (GO:0022010)3.30417537
73cell migration in hindbrain (GO:0021535)3.29392657
74positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.27631748
75mechanosensory behavior (GO:0007638)3.26631293
76positive regulation of dendritic spine morphogenesis (GO:0061003)3.25366805
77regulation of synaptic transmission, glutamatergic (GO:0051966)3.25022113
78axonal fasciculation (GO:0007413)3.24155097
79regulation of neurotransmitter levels (GO:0001505)3.23512244
80regulation of ARF protein signal transduction (GO:0032012)3.23175045
81mitochondrion transport along microtubule (GO:0047497)3.22846957
82establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.22846957
83synaptic vesicle endocytosis (GO:0048488)3.20319719
84regulation of dendritic spine development (GO:0060998)3.19603199
85cerebellar Purkinje cell differentiation (GO:0021702)3.14608696
86cerebellar Purkinje cell layer development (GO:0021680)3.13164075
87* regulation of neurotransmitter secretion (GO:0046928)3.12643165
88potassium ion homeostasis (GO:0055075)3.12049252
89negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.12028403
90regulation of synapse maturation (GO:0090128)3.07867363
91long-term synaptic potentiation (GO:0060291)3.07543297
92neuromuscular synaptic transmission (GO:0007274)3.07335068
93regulation of female receptivity (GO:0045924)3.05647466
94membrane depolarization during action potential (GO:0086010)3.04808443
95learning (GO:0007612)3.01713892
96dopamine receptor signaling pathway (GO:0007212)3.01062688
97membrane hyperpolarization (GO:0060081)3.00846397
98innervation (GO:0060384)2.99294594
99neuromuscular process (GO:0050905)2.98602196
100behavioral defense response (GO:0002209)2.98338066
101behavioral fear response (GO:0001662)2.98338066
102intraspecies interaction between organisms (GO:0051703)2.97871393
103social behavior (GO:0035176)2.97871393
104* membrane depolarization (GO:0051899)2.97752862
105potassium ion import (GO:0010107)2.97076243
106neuromuscular process controlling posture (GO:0050884)2.95902914
107* regulation of neurotransmitter transport (GO:0051588)2.95354723
108cell differentiation in hindbrain (GO:0021533)2.94966016
109positive regulation of synaptic transmission (GO:0050806)2.93997045
110central nervous system projection neuron axonogenesis (GO:0021952)2.93113501
111regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.92454961
112negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.90453024
113chemosensory behavior (GO:0007635)2.89641880
114establishment of nucleus localization (GO:0040023)2.89393134
115* regulation of synaptic transmission (GO:0050804)2.87861018
116synapse assembly (GO:0007416)2.87565116
117L-amino acid import (GO:0043092)2.86844570
118gamma-aminobutyric acid signaling pathway (GO:0007214)2.81517685
119negative regulation of dendrite morphogenesis (GO:0050774)2.78276924
120positive regulation of dendrite development (GO:1900006)2.75471419
121regulation of respiratory system process (GO:0044065)2.73191428
122adult walking behavior (GO:0007628)2.67375162

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.98036058
2JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09576002
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.04064779
4* RARB_27405468_Chip-Seq_BRAIN_Mouse3.01276070
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99498053
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84319291
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84319291
8DROSHA_22980978_ChIP-Seq_HELA_Human2.80184801
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.78040589
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.76542078
11GBX2_23144817_ChIP-Seq_PC3_Human2.69585084
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.61952870
13EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.59926456
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.58032650
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56078716
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52885069
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47084762
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46003459
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.45832044
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.45614169
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.38823833
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.34379803
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.31880599
24* REST_18959480_ChIP-ChIP_MESCs_Mouse2.28837168
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21552986
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.17974772
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.09002117
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.06480537
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.99644421
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.83083755
31AR_21572438_ChIP-Seq_LNCaP_Human1.66510890
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.66464027
33* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.63035674
34KDM2B_26808549_Chip-Seq_K562_Human1.58048076
35RING1B_27294783_Chip-Seq_ESCs_Mouse1.56005028
36* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.49913135
37WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.47861442
38GATA1_26923725_Chip-Seq_HPCs_Mouse1.45599649
39TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45253011
40POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.45253011
41* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.45072272
42* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.42542425
43SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.33984281
44RING1B_27294783_Chip-Seq_NPCs_Mouse1.33501589
45CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32937569
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31672077
47* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31316200
48ZFP281_27345836_Chip-Seq_ESCs_Mouse1.29524485
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25485368
50RNF2_27304074_Chip-Seq_NSC_Mouse1.24348889
51* AR_19668381_ChIP-Seq_PC3_Human1.22970722
52SMAD4_21799915_ChIP-Seq_A2780_Human1.22280553
53STAT6_21828071_ChIP-Seq_BEAS2B_Human1.20621235
54GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.19171161
55ZNF274_21170338_ChIP-Seq_K562_Hela1.18805213
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.18316356
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18094121
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15724412
59CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13730386
60DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.12454772
61PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11874268
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11042064
63RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.10999162
64TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09503902
65CTCF_27219007_Chip-Seq_Bcells_Human1.09391823
66* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.07282353
67TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04086671
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03767314
69OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02934185
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.02803755
71CBX2_27304074_Chip-Seq_ESCs_Mouse1.02293333
72SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02050231
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00646213
74ISL1_27105846_Chip-Seq_CPCs_Mouse1.00613642
75P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98827008
76* TET1_21490601_ChIP-Seq_MESCs_Mouse0.98113591
77OCT4_19829295_ChIP-Seq_ESCs_Human0.98095564
78THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.97015622
79TP53_20018659_ChIP-ChIP_R1E_Mouse0.96937219
80KDM2B_26808549_Chip-Seq_JURKAT_Human0.96881345
81ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96343870
82BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96043997
83STAT3_23295773_ChIP-Seq_U87_Human0.95363564
84RUNX1_26923725_Chip-Seq_HPCs_Mouse0.95173787
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.94989381
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94616776
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.94017590
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93649111
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.93238673
90* LXR_22292898_ChIP-Seq_THP-1_Human0.92428967
91AR_25329375_ChIP-Seq_VCAP_Human0.92380676
92DPY_21335234_ChIP-Seq_ESCs_Mouse0.92184891
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.90967544
94KDM2B_26808549_Chip-Seq_DND41_Human0.90353095
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89384542
96KLF4_19829295_ChIP-Seq_ESCs_Human0.89062864
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88504260
98* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88111028
99ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.87588458
100EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87465177
101STAT3_18555785_ChIP-Seq_MESCs_Mouse0.85688982
102AHR_22903824_ChIP-Seq_MCF-7_Human0.85531860
103POU5F1_16518401_ChIP-PET_MESCs_Mouse0.85351022
104SOX9_26525672_Chip-Seq_HEART_Mouse0.84813100
105STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.84668100
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84532131
107TCF4_23295773_ChIP-Seq_U87_Human0.84041007
108SMC4_20622854_ChIP-Seq_HELA_Human0.82928088
109GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81665704
110NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81505078
111SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81268272
112ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.80622127
113* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.80387689
114TOP2B_26459242_ChIP-Seq_MCF-7_Human0.79531149
115TAF15_26573619_Chip-Seq_HEK293_Human0.79251622
116CREB1_26743006_Chip-Seq_LNCaP_Human0.79195092
117TP53_16413492_ChIP-PET_HCT116_Human0.78953416
118P300_19829295_ChIP-Seq_ESCs_Human0.78787180
119SOX3_22085726_ChIP-Seq_NPCs_Mouse0.78419313
120* WDR5_24793694_ChIP-Seq_LNCAP_Human0.76764607
121SMAD4_21741376_ChIP-Seq_ESCs_Human0.76682868
122CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76373183

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.47361942
2* MP0003635_abnormal_synaptic_transmissio4.28827220
3MP0003880_abnormal_central_pattern4.20378504
4MP0004270_analgesia3.71904220
5MP0002822_catalepsy3.66988291
6MP0002063_abnormal_learning/memory/cond3.45865012
7* MP0009745_abnormal_behavioral_response3.38991861
8* MP0002064_seizures3.02507554
9MP0005423_abnormal_somatic_nervous2.89476146
10MP0002572_abnormal_emotion/affect_behav2.71439874
11MP0001968_abnormal_touch/_nociception2.69919430
12MP0009046_muscle_twitch2.67461847
13* MP0001486_abnormal_startle_reflex2.44921795
14MP0002734_abnormal_mechanical_nocicepti2.44747652
15MP0002272_abnormal_nervous_system2.35949890
16MP0009780_abnormal_chondrocyte_physiolo2.30545295
17MP0004858_abnormal_nervous_system2.10122961
18MP0001501_abnormal_sleep_pattern2.05814926
19MP0002909_abnormal_adrenal_gland2.01669376
20MP0004811_abnormal_neuron_physiology2.00365782
21MP0002736_abnormal_nociception_after1.94662706
22MP0008569_lethality_at_weaning1.89431615
23MP0000778_abnormal_nervous_system1.86642056
24MP0001440_abnormal_grooming_behavior1.84745294
25* MP0002733_abnormal_thermal_nociception1.78329859
26MP0002557_abnormal_social/conspecific_i1.78319651
27MP0004885_abnormal_endolymph1.74069967
28MP0002735_abnormal_chemical_nociception1.71454211
29* MP0001970_abnormal_pain_threshold1.71412054
30MP0002184_abnormal_innervation1.68897841
31MP0000955_abnormal_spinal_cord1.68876233
32MP0003136_yellow_coat_color1.66988071
33MP0002067_abnormal_sensory_capabilities1.66553592
34MP0003329_amyloid_beta_deposits1.63910753
35MP0003283_abnormal_digestive_organ1.60334503
36MP0003878_abnormal_ear_physiology1.59873059
37MP0005377_hearing/vestibular/ear_phenot1.59873059
38MP0005646_abnormal_pituitary_gland1.59634360
39MP0003123_paternal_imprinting1.59514623
40MP0005386_behavior/neurological_phenoty1.58682016
41MP0004924_abnormal_behavior1.58682016
42MP0003879_abnormal_hair_cell1.56099113
43MP0003787_abnormal_imprinting1.53296963
44MP0008961_abnormal_basal_metabolism1.48881032
45MP0002882_abnormal_neuron_morphology1.47049153
46MP0008877_abnormal_DNA_methylation1.40938172
47MP0002066_abnormal_motor_capabilities/c1.38805008
48MP0003633_abnormal_nervous_system1.32194252
49MP0000569_abnormal_digit_pigmentation1.31612709
50MP0001984_abnormal_olfaction1.28308026
51MP0001188_hyperpigmentation1.27550192
52MP0004742_abnormal_vestibular_system1.26579623
53MP0003122_maternal_imprinting1.26229471
54MP0003890_abnormal_embryonic-extraembry1.25726081
55MP0003121_genomic_imprinting1.24796107
56MP0002152_abnormal_brain_morphology1.21430533
57MP0001485_abnormal_pinna_reflex1.19491284
58MP0006292_abnormal_olfactory_placode1.18553733
59MP0005645_abnormal_hypothalamus_physiol1.15335343
60MP0001502_abnormal_circadian_rhythm1.14908532
61MP0003075_altered_response_to1.12285841
62MP0006276_abnormal_autonomic_nervous1.07497535
63MP0002249_abnormal_larynx_morphology1.07072758
64MP0003631_nervous_system_phenotype1.06707513
65MP0001177_atelectasis1.04532656
66MP0005394_taste/olfaction_phenotype1.04530885
67MP0005499_abnormal_olfactory_system1.04530885
68MP0002069_abnormal_eating/drinking_beha1.01577099
69MP0000751_myopathy0.96149310
70MP0008872_abnormal_physiological_respon0.96024527
71MP0001529_abnormal_vocalization0.94395876
72MP0002234_abnormal_pharynx_morphology0.94048615
73MP0009379_abnormal_foot_pigmentation0.92436765
74MP0000566_synostosis0.91371836
75MP0001348_abnormal_lacrimal_gland0.90725805
76MP0008874_decreased_physiological_sensi0.90586323
77MP0000026_abnormal_inner_ear0.89853133
78MP0003119_abnormal_digestive_system0.89714301
79MP0004142_abnormal_muscle_tone0.89491460
80MP0005670_abnormal_white_adipose0.89410878
81MP0001905_abnormal_dopamine_level0.89068161
82MP0004085_abnormal_heartbeat0.88594124
83MP0002638_abnormal_pupillary_reflex0.88094857
84MP0003938_abnormal_ear_development0.87654045
85MP0000631_abnormal_neuroendocrine_gland0.87185408
86MP0005410_abnormal_fertilization0.86825414
87MP0005167_abnormal_blood-brain_barrier0.86584773
88MP0005623_abnormal_meninges_morphology0.86395905
89MP0003690_abnormal_glial_cell0.82770563
90MP0004145_abnormal_muscle_electrophysio0.79397173
91MP0004133_heterotaxia0.79042853
92MP0003634_abnormal_glial_cell0.78861470
93MP0002229_neurodegeneration0.78521829
94MP0005187_abnormal_penis_morphology0.78345736
95MP0009672_abnormal_birth_weight0.78052044
96MP0003861_abnormal_nervous_system0.77456944
97MP0000579_abnormal_nail_morphology0.77292229
98MP0000013_abnormal_adipose_tissue0.76465042
99MP0003698_abnormal_male_reproductive0.75188842
100MP0005551_abnormal_eye_electrophysiolog0.74792276
101MP0000049_abnormal_middle_ear0.74258665
102MP0002081_perinatal_lethality0.74170101
103MP0003137_abnormal_impulse_conducting0.73076449
104MP0003632_abnormal_nervous_system0.70796563
105MP0002752_abnormal_somatic_nervous0.70719301
106MP0004130_abnormal_muscle_cell0.70343249
107MP0005535_abnormal_body_temperature0.70307199
108MP0002837_dystrophic_cardiac_calcinosis0.68580841
109MP0010234_abnormal_vibrissa_follicle0.68326323
110MP0002653_abnormal_ependyma_morphology0.68068975
111MP0002090_abnormal_vision0.67104730
112MP0000920_abnormal_myelination0.66991332
113MP0001963_abnormal_hearing_physiology0.64829854
114MP0000534_abnormal_ureter_morphology0.63923095
115MP0003303_peritoneal_inflammation0.63569983
116MP0002089_abnormal_postnatal_growth/wei0.63378012
117MP0004043_abnormal_pH_regulation0.63340528
118MP0004233_abnormal_muscle_weight0.61024764
119MP0005409_darkened_coat_color0.59997533
120MP0001299_abnormal_eye_distance/0.59452981
121MP0000604_amyloidosis0.58867629
122MP0001943_abnormal_respiration0.58225486
123MP0001664_abnormal_digestion0.58150864
124MP0010769_abnormal_survival0.57748739
125MP0004510_myositis0.54721005
126MP0002082_postnatal_lethality0.54207279
127MP0010770_preweaning_lethality0.54207279
128MP0010768_mortality/aging0.53567696

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.19297309
2Focal motor seizures (HP:0011153)6.32379864
3Focal seizures (HP:0007359)5.26756891
4Visual hallucinations (HP:0002367)4.80527121
5Epileptic encephalopathy (HP:0200134)4.05387027
6Action tremor (HP:0002345)3.81089535
7Ankle clonus (HP:0011448)3.72239063
8Progressive cerebellar ataxia (HP:0002073)3.70916315
9Supranuclear gaze palsy (HP:0000605)3.55045046
10Poor eye contact (HP:0000817)3.52069996
11Febrile seizures (HP:0002373)3.48650064
12Impaired vibration sensation in the lower limbs (HP:0002166)3.32975132
13Generalized tonic-clonic seizures (HP:0002069)3.31214549
14Depression (HP:0000716)3.30659436
15Absence seizures (HP:0002121)3.30037536
16Papilledema (HP:0001085)3.28888839
17Amblyopia (HP:0000646)3.26641609
18Abnormality of the lower motor neuron (HP:0002366)3.25178085
19Impaired social interactions (HP:0000735)3.23406174
20Abnormal social behavior (HP:0012433)3.23406174
21Atonic seizures (HP:0010819)3.17488111
22Urinary bladder sphincter dysfunction (HP:0002839)3.14100963
23Mutism (HP:0002300)3.07802568
24Torticollis (HP:0000473)3.06358934
25Broad-based gait (HP:0002136)3.05568347
26Turricephaly (HP:0000262)3.04678235
27Megalencephaly (HP:0001355)2.98471113
28Dialeptic seizures (HP:0011146)2.95102838
29Postural instability (HP:0002172)2.94776523
30Dysdiadochokinesis (HP:0002075)2.90806873
31Anxiety (HP:0000739)2.90236967
32Genetic anticipation (HP:0003743)2.87645616
33Annular pancreas (HP:0001734)2.86049100
34Focal dystonia (HP:0004373)2.82305268
35Insomnia (HP:0100785)2.80207814
36Gaze-evoked nystagmus (HP:0000640)2.78365117
37Peripheral hypomyelination (HP:0007182)2.74958679
38Pointed chin (HP:0000307)2.70426881
39Urinary urgency (HP:0000012)2.69627438
40Abnormal eating behavior (HP:0100738)2.68367226
41Hemiparesis (HP:0001269)2.67847095
42Dysmetria (HP:0001310)2.66256323
43Stereotypic behavior (HP:0000733)2.65061051
44Sleep apnea (HP:0010535)2.63783271
45Truncal ataxia (HP:0002078)2.63782711
46Bronchomalacia (HP:0002780)2.63690765
47Impaired smooth pursuit (HP:0007772)2.56973799
48Drooling (HP:0002307)2.54904541
49Excessive salivation (HP:0003781)2.54904541
50Hemiplegia (HP:0002301)2.54602831
51Craniofacial dystonia (HP:0012179)2.49763378
52Hepatoblastoma (HP:0002884)2.47739055
53Ventricular fibrillation (HP:0001663)2.47546544
54Spastic gait (HP:0002064)2.42339086
55Intention tremor (HP:0002080)2.41913161
56Aplasia involving bones of the extremities (HP:0009825)2.40118621
57Aplasia involving bones of the upper limbs (HP:0009823)2.40118621
58Large eyes (HP:0001090)2.38738733
59Obstructive sleep apnea (HP:0002870)2.33680647
60Impaired vibratory sensation (HP:0002495)2.33250723
61Overriding aorta (HP:0002623)2.32601322
62Bradykinesia (HP:0002067)2.27398887
63Cerebral inclusion bodies (HP:0100314)2.26409977
64Abnormality of ocular smooth pursuit (HP:0000617)2.25316119
65Bundle branch block (HP:0011710)2.23466522
66Ankyloglossia (HP:0010296)2.22796550
67Neurofibrillary tangles (HP:0002185)2.21635257
68Hyperacusis (HP:0010780)2.19701724
69Dysmetric saccades (HP:0000641)2.18886672
70Hyperventilation (HP:0002883)2.16445897
71Epileptiform EEG discharges (HP:0011182)2.14633645
72EEG with generalized epileptiform discharges (HP:0011198)2.12953595
73Hypsarrhythmia (HP:0002521)2.10615042
74Lower limb muscle weakness (HP:0007340)2.10486002
75Renovascular hypertension (HP:0100817)2.10354681
76Lower limb amyotrophy (HP:0007210)2.07982380
77Shallow orbits (HP:0000586)2.07964691
78Trigonocephaly (HP:0000243)2.05589616
79Choanal stenosis (HP:0000452)2.03507526
80Termporal pattern (HP:0011008)2.03418299
81Insidious onset (HP:0003587)2.03418299
82Clonus (HP:0002169)2.03296761
83Progressive inability to walk (HP:0002505)2.02381685
84Abnormality of binocular vision (HP:0011514)2.01213291
85Diplopia (HP:0000651)2.01213291
86Abnormal EKG (HP:0003115)2.00531019
87Generalized hypotonia (HP:0001290)1.99810781
88Abnormality of the labia minora (HP:0012880)1.99746693
89Status epilepticus (HP:0002133)1.99479618
90Scanning speech (HP:0002168)1.98941088
91Abnormality of the diencephalon (HP:0010662)1.98927226
92Cutaneous syndactyly (HP:0012725)1.98740398
93Split foot (HP:0001839)1.98620638
94Limb dystonia (HP:0002451)1.98068568
95Apathy (HP:0000741)1.97993568
96Cutaneous finger syndactyly (HP:0010554)1.97938997
97Agitation (HP:0000713)1.96708499
98Amyotrophic lateral sclerosis (HP:0007354)1.94687716
99Vertebral arch anomaly (HP:0008438)1.92332027
100Obsessive-compulsive behavior (HP:0000722)1.90437830
101Resting tremor (HP:0002322)1.88125421
102Neuronal loss in central nervous system (HP:0002529)1.87872932
103Aplasia/Hypoplasia of the sternum (HP:0006714)1.87847777
104Absent speech (HP:0001344)1.86413794
105Elfin facies (HP:0004428)1.86362952
106Lower limb asymmetry (HP:0100559)1.86143140
107Abnormality of the aortic arch (HP:0012303)1.85784321
108Hypoventilation (HP:0002791)1.85357886
109Abnormality of the corticospinal tract (HP:0002492)1.81951209
110Septo-optic dysplasia (HP:0100842)1.81779016
111Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.81567760
112Macroorchidism (HP:0000053)1.78270638
113Broad distal phalanx of finger (HP:0009836)1.78151733
114Inappropriate behavior (HP:0000719)1.78146580
115Intellectual disability, profound (HP:0002187)1.77139199
116Neoplasm of the heart (HP:0100544)1.76470625
117Polyphagia (HP:0002591)1.76242108
118Incomplete penetrance (HP:0003829)1.76171526
119Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.73646303
120Fetal akinesia sequence (HP:0001989)1.73535019
121Spastic tetraparesis (HP:0001285)1.73132413
122Bowel incontinence (HP:0002607)1.72882436
123Rapidly progressive (HP:0003678)1.70642279
124Increased nuchal translucency (HP:0010880)1.70005833
125Gait ataxia (HP:0002066)1.69500986
126Diminished motivation (HP:0000745)1.69410329
127Aplasia of the phalanges of the hand (HP:0009802)1.69244329
128Aqueductal stenosis (HP:0002410)1.68356780
129Hyperthyroidism (HP:0000836)1.67710728
130Failure to thrive in infancy (HP:0001531)1.66160593
131Tetraplegia (HP:0002445)1.66152565
132Urethral obstruction (HP:0000796)1.65694230
133Tracheomalacia (HP:0002779)1.65436557
134Protruding tongue (HP:0010808)1.63684878

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.67565486
2MAP3K94.19411724
3NTRK34.15178777
4MARK13.36178317
5PRKD33.02674840
6DAPK22.82647168
7MAP3K42.79625619
8MINK12.56216508
9PAK62.48298707
10KSR22.26980417
11NTRK22.21248356
12CAMKK12.20217204
13MAP2K72.15601065
14KSR11.83990322
15NTRK11.79976609
16LATS11.78279808
17MAP3K21.73272804
18MAP2K41.68305342
19SIK21.63471385
20CDK51.61291585
21STK38L1.60834262
22DAPK11.50200076
23STK381.47787865
24DYRK21.45527206
25TYRO31.45108493
26TAOK11.44366151
27UHMK11.28707751
28CDK121.25183227
29MAPK131.22293553
30FES1.18674584
31TNIK1.16458612
32PRPF4B1.16134548
33RIPK41.13756751
34STK111.13485125
35ALK1.10398340
36PRKCG1.09261184
37CAMK1D1.06957270
38PRKCH1.05589188
39PHKG11.05473793
40PHKG21.05473793
41CAMK11.04732419
42LATS21.03647619
43MAP3K131.03601070
44RIPK10.99245459
45PKN10.97180500
46LMTK20.95883266
47GRK50.95342127
48CDK150.93783401
49CDK190.92988112
50CDK180.92582414
51MARK20.91065031
52MAP3K100.89886978
53SGK2230.87511588
54SGK4940.87511588
55RET0.87432963
56PLK20.87021565
57MAP3K120.85296650
58CDK140.84926959
59CDK11A0.83224265
60BRD40.81303751
61CAMKK20.80694940
62ARAF0.79975613
63TRIB30.78916430
64PNCK0.77742630
65PAK30.76356365
66SGK30.75646890
67INSRR0.74099825
68RAF10.73060409
69CAMK2A0.71634772
70SGK10.71475566
71MKNK20.70265815
72DYRK1A0.68686309
73PTK2B0.68373830
74PRKCZ0.68287826
75PINK10.67041465
76MAP2K20.65289572
77MAP3K70.65138076
78RPS6KA20.64283254
79CAMK1G0.64179405
80ICK0.64102553
81PLK40.64003023
82WNK10.63551565
83CDC42BPA0.62476868
84SGK20.62106236
85MKNK10.60326579
86PDK10.60000006
87NEK10.59223190
88DDR20.59155129
89PDGFRA0.58847559
90RPS6KA30.57977257
91CAMK40.57926209
92CSNK1G20.55444909
93MAP3K10.55154696
94PDPK10.54297199
95BRSK10.54130511
96GSK3B0.53354754
97FYN0.50872521
98CAMK2B0.48513345
99DMPK0.47984734
100ROCK20.47467715
101MAPK100.45080461
102DAPK30.44408454
103PRKD20.43463001
104EEF2K0.43057401
105CSNK1E0.41895968
106MAPK150.41079143
107PRKDC0.41028198
108MTOR0.40206123
109CASK0.39811820
110CSNK1D0.39447005
111CDK20.39085203
112SCYL20.38726645
113CDK30.38361511
114EPHB20.37452590
115CAMK2G0.35766098
116ERBB20.35502984
117NEK60.35409728
118CDK10.35021664
119TNK20.33456768
120MAP2K10.33427431
121MAPK80.33215689
122PRKCB0.32873670
123BMX0.32715730
124PKN20.29363087
125FGFR20.29138327
126FGR0.27624593

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.07932559
2Synaptic vesicle cycle_Homo sapiens_hsa047212.92798885
3Olfactory transduction_Homo sapiens_hsa047402.88984848
4Circadian entrainment_Homo sapiens_hsa047132.68438729
5GABAergic synapse_Homo sapiens_hsa047272.56613171
6Long-term potentiation_Homo sapiens_hsa047202.52097381
7* Glutamatergic synapse_Homo sapiens_hsa047242.44451504
8Amphetamine addiction_Homo sapiens_hsa050312.38850739
9Morphine addiction_Homo sapiens_hsa050322.37397281
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.33537756
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.24136527
12Dopaminergic synapse_Homo sapiens_hsa047282.12156775
13Salivary secretion_Homo sapiens_hsa049702.04990597
14Insulin secretion_Homo sapiens_hsa049112.04258678
15Cholinergic synapse_Homo sapiens_hsa047251.99068856
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93450556
17Gastric acid secretion_Homo sapiens_hsa049711.88691428
18Cocaine addiction_Homo sapiens_hsa050301.81950441
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76567847
20Nitrogen metabolism_Homo sapiens_hsa009101.72400975
21Oxytocin signaling pathway_Homo sapiens_hsa049211.69496125
22Renin secretion_Homo sapiens_hsa049241.60398036
23GnRH signaling pathway_Homo sapiens_hsa049121.54807204
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51022323
25Gap junction_Homo sapiens_hsa045401.49228778
26Long-term depression_Homo sapiens_hsa047301.48099860
27Calcium signaling pathway_Homo sapiens_hsa040201.48020201
28Type II diabetes mellitus_Homo sapiens_hsa049301.44562596
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39413823
30Taste transduction_Homo sapiens_hsa047421.38884844
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.37962177
32Serotonergic synapse_Homo sapiens_hsa047261.36566918
33Glioma_Homo sapiens_hsa052141.35456029
34cAMP signaling pathway_Homo sapiens_hsa040241.29879584
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25377270
36Estrogen signaling pathway_Homo sapiens_hsa049151.23761775
37Axon guidance_Homo sapiens_hsa043601.20851755
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17667968
39Melanogenesis_Homo sapiens_hsa049161.14061352
40ErbB signaling pathway_Homo sapiens_hsa040121.09753773
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05788386
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05220521
43Dorso-ventral axis formation_Homo sapiens_hsa043201.00174724
44Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.95699736
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.95237369
46Basal cell carcinoma_Homo sapiens_hsa052170.95202988
47Hippo signaling pathway_Homo sapiens_hsa043900.92008176
48Oocyte meiosis_Homo sapiens_hsa041140.90685216
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.89287267
50Hedgehog signaling pathway_Homo sapiens_hsa043400.84985500
51Notch signaling pathway_Homo sapiens_hsa043300.83885645
52Dilated cardiomyopathy_Homo sapiens_hsa054140.83249277
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.83205361
54mTOR signaling pathway_Homo sapiens_hsa041500.82867659
55Vitamin B6 metabolism_Homo sapiens_hsa007500.81785828
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81712487
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80117491
58Pancreatic secretion_Homo sapiens_hsa049720.79514353
59Thyroid hormone synthesis_Homo sapiens_hsa049180.78366650
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77179628
61Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75865559
62Choline metabolism in cancer_Homo sapiens_hsa052310.74895095
63MAPK signaling pathway_Homo sapiens_hsa040100.74885985
64VEGF signaling pathway_Homo sapiens_hsa043700.74352058
65Cardiac muscle contraction_Homo sapiens_hsa042600.72389523
66Non-small cell lung cancer_Homo sapiens_hsa052230.71101780
67Endometrial cancer_Homo sapiens_hsa052130.71075188
68Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70618499
69* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.70137491
70Glucagon signaling pathway_Homo sapiens_hsa049220.67623139
71Bile secretion_Homo sapiens_hsa049760.66995259
72Rap1 signaling pathway_Homo sapiens_hsa040150.66395418
73Collecting duct acid secretion_Homo sapiens_hsa049660.64608267
74Alcoholism_Homo sapiens_hsa050340.64377173
75Phototransduction_Homo sapiens_hsa047440.63676837
76Adherens junction_Homo sapiens_hsa045200.63530040
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63259770
78Tight junction_Homo sapiens_hsa045300.62700566
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59482000
80Ras signaling pathway_Homo sapiens_hsa040140.58497126
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56220998
82mRNA surveillance pathway_Homo sapiens_hsa030150.55788393
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.54088858
84Endocytosis_Homo sapiens_hsa041440.53859361
85Wnt signaling pathway_Homo sapiens_hsa043100.52973574
86Insulin signaling pathway_Homo sapiens_hsa049100.52809730
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52553833
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.52011904
89Type I diabetes mellitus_Homo sapiens_hsa049400.51916956
90Renal cell carcinoma_Homo sapiens_hsa052110.50670043
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50653484
92Lysine degradation_Homo sapiens_hsa003100.49821686
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49086654
94Prion diseases_Homo sapiens_hsa050200.48031356
95Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47047054
96Colorectal cancer_Homo sapiens_hsa052100.46269486
97Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45868660
98Vibrio cholerae infection_Homo sapiens_hsa051100.44323092
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41208411
100Inositol phosphate metabolism_Homo sapiens_hsa005620.38253092
101Chemokine signaling pathway_Homo sapiens_hsa040620.38210073
102Ovarian steroidogenesis_Homo sapiens_hsa049130.38134622
103MicroRNAs in cancer_Homo sapiens_hsa052060.37890628
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.37562272
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.37080489
106Prolactin signaling pathway_Homo sapiens_hsa049170.36915237
107AMPK signaling pathway_Homo sapiens_hsa041520.36519596
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35392374
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35294459
110Circadian rhythm_Homo sapiens_hsa047100.34529145
111Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.33608902
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32749570
113Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.32207979
114Platelet activation_Homo sapiens_hsa046110.30670484
115Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30612533

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