KCNQ3

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 functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.83763750
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.70265815
3vocalization behavior (GO:0071625)5.50708259
4locomotory exploration behavior (GO:0035641)5.49905426
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.35303198
6synaptic vesicle maturation (GO:0016188)5.29964086
7synaptic vesicle exocytosis (GO:0016079)5.19711591
8ionotropic glutamate receptor signaling pathway (GO:0035235)5.00949185
9regulation of glutamate receptor signaling pathway (GO:1900449)5.00426989
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.92877308
11glutamate secretion (GO:0014047)4.89254269
12protein localization to synapse (GO:0035418)4.78228566
13neuron cell-cell adhesion (GO:0007158)4.70762640
14regulation of synaptic vesicle exocytosis (GO:2000300)4.63517637
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.63130747
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56087687
17neuronal action potential propagation (GO:0019227)4.55644098
18regulation of neuronal synaptic plasticity (GO:0048168)4.48735509
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.47952974
20pyrimidine nucleobase catabolic process (GO:0006208)4.47557961
21glutamate receptor signaling pathway (GO:0007215)4.46071788
22synaptic transmission, glutamatergic (GO:0035249)4.45500949
23exploration behavior (GO:0035640)4.37350678
24neuron-neuron synaptic transmission (GO:0007270)4.27469012
25neurotransmitter-gated ion channel clustering (GO:0072578)4.26356252
26central nervous system projection neuron axonogenesis (GO:0021952)4.25068122
27regulation of synapse structural plasticity (GO:0051823)4.23735042
28regulation of synaptic vesicle transport (GO:1902803)4.14698552
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.10025463
30neurotransmitter secretion (GO:0007269)4.09175795
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.04392666
32dendritic spine morphogenesis (GO:0060997)4.03275479
33long-term memory (GO:0007616)3.91427057
34regulation of postsynaptic membrane potential (GO:0060078)3.87997927
35nucleobase catabolic process (GO:0046113)3.84754586
36positive regulation of membrane potential (GO:0045838)3.83069857
37cerebellar granule cell differentiation (GO:0021707)3.82305570
38regulation of synaptic plasticity (GO:0048167)3.74336659
39neuron recognition (GO:0008038)3.72031916
40regulation of dendritic spine morphogenesis (GO:0061001)3.69395766
41sodium ion export (GO:0071436)3.67657192
42presynaptic membrane assembly (GO:0097105)3.67598861
43gamma-aminobutyric acid transport (GO:0015812)3.65569200
44regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.64758887
45positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.63681898
46transmission of nerve impulse (GO:0019226)3.61685427
47long-term synaptic potentiation (GO:0060291)3.61464038
48layer formation in cerebral cortex (GO:0021819)3.59278837
49regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.59278537
50regulation of synaptic transmission, glutamatergic (GO:0051966)3.57552917
51positive regulation of dendritic spine morphogenesis (GO:0061003)3.53693108
52auditory behavior (GO:0031223)3.52003489
53gamma-aminobutyric acid signaling pathway (GO:0007214)3.49832023
54presynaptic membrane organization (GO:0097090)3.46629411
55postsynaptic membrane organization (GO:0001941)3.45989679
56positive regulation of synapse maturation (GO:0090129)3.44964290
57axonal fasciculation (GO:0007413)3.44839499
58cellular potassium ion homeostasis (GO:0030007)3.42976135
59cell migration in hindbrain (GO:0021535)3.40172904
60behavioral defense response (GO:0002209)3.39789383
61behavioral fear response (GO:0001662)3.39789383
62negative regulation of synaptic transmission, GABAergic (GO:0032229)3.39289148
63central nervous system myelination (GO:0022010)3.39224542
64axon ensheathment in central nervous system (GO:0032291)3.39224542
65neurotransmitter transport (GO:0006836)3.38681783
66response to histamine (GO:0034776)3.37204513
67response to auditory stimulus (GO:0010996)3.36841424
68proline transport (GO:0015824)3.36735569
69negative regulation of dendrite morphogenesis (GO:0050774)3.36624158
70positive regulation of neurotransmitter secretion (GO:0001956)3.36376691
71regulation of neurotransmitter secretion (GO:0046928)3.36334551
72amino acid import (GO:0043090)3.36145087
73cerebral cortex radially oriented cell migration (GO:0021799)3.34277346
74positive regulation of neurotransmitter transport (GO:0051590)3.34117756
75startle response (GO:0001964)3.33964429
76membrane depolarization (GO:0051899)3.32269061
77central nervous system neuron axonogenesis (GO:0021955)3.30828000
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.29383020
79G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.28752842
80cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.28309119
81G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.27995123
82serotonin metabolic process (GO:0042428)3.25591332
83synaptic vesicle endocytosis (GO:0048488)3.25501181
84cerebellar Purkinje cell differentiation (GO:0021702)3.23947220
85learning (GO:0007612)3.23496296
86negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.22513063
87fear response (GO:0042596)3.22124256
88neuromuscular process controlling balance (GO:0050885)3.21805040
89neuronal ion channel clustering (GO:0045161)3.21649586
90positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.20160327
91regulation of vesicle fusion (GO:0031338)3.20005758
92L-amino acid import (GO:0043092)3.19766228
93regulation of dendritic spine development (GO:0060998)3.19759144
94regulation of neurotransmitter transport (GO:0051588)3.18429872
95membrane depolarization during action potential (GO:0086010)3.17394443
96positive regulation of synapse assembly (GO:0051965)3.16576956
97prepulse inhibition (GO:0060134)3.16375127
98regulation of neurotransmitter levels (GO:0001505)3.16067034
99innervation (GO:0060384)3.11179670
100regulation of voltage-gated calcium channel activity (GO:1901385)3.10609083
101dendrite morphogenesis (GO:0048813)3.10032751
102establishment of mitochondrion localization (GO:0051654)3.09995014
103regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.09993382
104behavioral response to cocaine (GO:0048148)3.06972718
105dendritic spine organization (GO:0097061)3.05583568
106mechanosensory behavior (GO:0007638)3.05209747
107positive regulation of synaptic transmission (GO:0050806)3.04684978
108synapse assembly (GO:0007416)3.02576389
109regulation of synaptic transmission (GO:0050804)3.01688089
110activation of protein kinase A activity (GO:0034199)2.99138139
111regulation of synapse maturation (GO:0090128)2.98757263
112striatum development (GO:0021756)2.98096364
113* synaptic transmission (GO:0007268)2.97895355
114regulation of glutamate secretion (GO:0014048)2.95433580
115adult walking behavior (GO:0007628)2.95128762
116negative regulation of dendrite development (GO:2000171)2.95087020
117neuromuscular process (GO:0050905)2.93816978
118positive regulation of dendritic spine development (GO:0060999)2.93584763
119visual learning (GO:0008542)2.93231702
120response to amphetamine (GO:0001975)2.90591576
121cell communication by electrical coupling (GO:0010644)2.89016296
122detection of calcium ion (GO:0005513)2.87672209
123neurotransmitter uptake (GO:0001504)2.87585010

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.88740758
2GBX2_23144817_ChIP-Seq_PC3_Human3.99731881
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11570825
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04989378
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00661108
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62720930
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62720930
8* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60709442
9REST_21632747_ChIP-Seq_MESCs_Mouse2.54727651
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54332106
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48115904
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.45455921
13* RARB_27405468_Chip-Seq_BRAIN_Mouse2.42248981
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41255715
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41236688
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.38584408
17* DROSHA_22980978_ChIP-Seq_HELA_Human2.37022533
18* EED_16625203_ChIP-ChIP_MESCs_Mouse2.26974449
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.15212729
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14475805
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.11348112
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07423832
23AR_21572438_ChIP-Seq_LNCaP_Human2.01727709
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.96221729
25TAF15_26573619_Chip-Seq_HEK293_Human1.93115171
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.89619057
27* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83302406
28* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82646283
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.79297463
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78610425
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75735036
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.74432438
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.74287339
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.73472043
35P300_19829295_ChIP-Seq_ESCs_Human1.58992949
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58767108
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.58543765
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48083634
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.47726016
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.45585291
41EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44666607
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40727824
43RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.40641017
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.39792603
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.36594770
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34768703
47* STAT3_23295773_ChIP-Seq_U87_Human1.34248549
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.33456691
49OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32980599
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32757003
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.32467622
52* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32275253
53ERG_21242973_ChIP-ChIP_JURKAT_Human1.30705114
54* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29992230
55AR_25329375_ChIP-Seq_VCAP_Human1.29537513
56* PIAS1_25552417_ChIP-Seq_VCAP_Human1.29093487
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27948082
58BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26619269
59* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25417042
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24584501
61IGF1R_20145208_ChIP-Seq_DFB_Human1.24448657
62RING1B_27294783_Chip-Seq_ESCs_Mouse1.20896474
63LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18850570
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18621708
65* TCF4_23295773_ChIP-Seq_U87_Human1.18282317
66AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17798399
67AR_19668381_ChIP-Seq_PC3_Human1.17044003
68FUS_26573619_Chip-Seq_HEK293_Human1.16836002
69VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.16166555
70CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16163755
71TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16121011
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.15256337
73SOX9_26525672_Chip-Seq_HEART_Mouse1.15030599
74SALL1_21062744_ChIP-ChIP_HESCs_Human1.14296925
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13143200
76* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12191325
77ZNF274_21170338_ChIP-Seq_K562_Hela1.11967338
78TP53_16413492_ChIP-PET_HCT116_Human1.11777236
79RNF2_27304074_Chip-Seq_NSC_Mouse1.10721784
80AHR_22903824_ChIP-Seq_MCF-7_Human1.10194169
81PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09889805
82CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09734559
83TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09663178
84BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.09296459
85RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08635199
86PRDM14_20953172_ChIP-Seq_ESCs_Human1.07837058
87KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.06898144
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06733693
89UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06725348
90NANOG_18555785_Chip-Seq_ESCs_Mouse1.06605618
91RUNX2_22187159_ChIP-Seq_PCA_Human1.06113506
92* KDM2B_26808549_Chip-Seq_REH_Human1.05371003
93* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05360153
94RING1B_27294783_Chip-Seq_NPCs_Mouse1.04826190
95MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04171971
96SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01841944
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01428282
98TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01428282
99STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.00925628
100CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00681343
101* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.98732126
102EP300_21415370_ChIP-Seq_HL-1_Mouse0.98230674
103ER_23166858_ChIP-Seq_MCF-7_Human0.98021555
104SMAD3_21741376_ChIP-Seq_HESCs_Human0.97258844
105* TP53_18474530_ChIP-ChIP_U2OS_Human0.95818819
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95812404
107E2F1_18555785_Chip-Seq_ESCs_Mouse0.94984388
108* JUN_21703547_ChIP-Seq_K562_Human0.93810936
109TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93314144
110VDR_22108803_ChIP-Seq_LS180_Human0.93006039
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.92331096
112CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92221872
113SMAD3_21741376_ChIP-Seq_ESCs_Human0.90871073
114RXR_22108803_ChIP-Seq_LS180_Human0.90784016

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.69070398
2MP0003880_abnormal_central_pattern5.30021538
3MP0003635_abnormal_synaptic_transmissio4.18796769
4MP0004270_analgesia3.86469091
5MP0002822_catalepsy3.70701629
6MP0009745_abnormal_behavioral_response3.58434732
7MP0002063_abnormal_learning/memory/cond3.41721136
8* MP0002064_seizures3.18571641
9MP0009046_muscle_twitch3.03221083
10MP0001968_abnormal_touch/_nociception2.94059431
11MP0002572_abnormal_emotion/affect_behav2.93298083
12MP0001486_abnormal_startle_reflex2.77169222
13MP0005423_abnormal_somatic_nervous2.71207849
14* MP0002272_abnormal_nervous_system2.62153919
15MP0002734_abnormal_mechanical_nocicepti2.55647681
16MP0001501_abnormal_sleep_pattern2.34986301
17MP0002735_abnormal_chemical_nociception2.18150472
18MP0002736_abnormal_nociception_after2.18014681
19MP0001440_abnormal_grooming_behavior2.12899711
20MP0002067_abnormal_sensory_capabilities1.96828946
21MP0002733_abnormal_thermal_nociception1.93315447
22MP0001970_abnormal_pain_threshold1.92059536
23MP0000778_abnormal_nervous_system1.88717472
24MP0005646_abnormal_pituitary_gland1.88399035
25MP0001529_abnormal_vocalization1.85213816
26MP0004924_abnormal_behavior1.81618791
27MP0005386_behavior/neurological_phenoty1.81618791
28MP0008569_lethality_at_weaning1.81582554
29MP0009780_abnormal_chondrocyte_physiolo1.74938771
30MP0002557_abnormal_social/conspecific_i1.74283040
31MP0002184_abnormal_innervation1.71396590
32MP0001188_hyperpigmentation1.63148104
33* MP0004811_abnormal_neuron_physiology1.61511261
34MP0006276_abnormal_autonomic_nervous1.61338262
35MP0001984_abnormal_olfaction1.57508839
36MP0003879_abnormal_hair_cell1.56291828
37MP0003329_amyloid_beta_deposits1.53704630
38MP0003787_abnormal_imprinting1.50647343
39MP0004858_abnormal_nervous_system1.49863823
40MP0000955_abnormal_spinal_cord1.48442476
41MP0001905_abnormal_dopamine_level1.47606611
42MP0004885_abnormal_endolymph1.44771738
43MP0003633_abnormal_nervous_system1.43424346
44MP0002909_abnormal_adrenal_gland1.41748451
45MP0005645_abnormal_hypothalamus_physiol1.41062612
46MP0002066_abnormal_motor_capabilities/c1.40464935
47MP0002882_abnormal_neuron_morphology1.39762282
48MP0005409_darkened_coat_color1.33775607
49MP0004142_abnormal_muscle_tone1.24387531
50MP0001502_abnormal_circadian_rhythm1.20780720
51MP0003631_nervous_system_phenotype1.20501640
52* MP0002152_abnormal_brain_morphology1.06175701
53MP0010386_abnormal_urinary_bladder1.05871460
54MP0004742_abnormal_vestibular_system1.04673107
55MP0000569_abnormal_digit_pigmentation1.02894721
56MP0000920_abnormal_myelination1.01784988
57MP0008874_decreased_physiological_sensi1.01083784
58MP0001177_atelectasis0.99031098
59MP0003121_genomic_imprinting0.94094213
60MP0001963_abnormal_hearing_physiology0.92761919
61MP0002229_neurodegeneration0.92611834
62MP0002069_abnormal_eating/drinking_beha0.92281110
63MP0000566_synostosis0.91619785
64MP0003122_maternal_imprinting0.91286301
65MP0003690_abnormal_glial_cell0.90145146
66MP0005551_abnormal_eye_electrophysiolog0.87767382
67MP0006292_abnormal_olfactory_placode0.87287659
68MP0001485_abnormal_pinna_reflex0.86221493
69MP0004085_abnormal_heartbeat0.84222140
70MP0004145_abnormal_muscle_electrophysio0.83521772
71* MP0008872_abnormal_physiological_respon0.81661131
72MP0000751_myopathy0.81130614
73MP0003075_altered_response_to0.79544361
74MP0003632_abnormal_nervous_system0.78827415
75MP0005535_abnormal_body_temperature0.78784919
76MP0002234_abnormal_pharynx_morphology0.78413330
77MP0008877_abnormal_DNA_methylation0.77020582
78MP0003123_paternal_imprinting0.76163764
79MP0002752_abnormal_somatic_nervous0.75998256
80MP0005499_abnormal_olfactory_system0.75221419
81MP0005394_taste/olfaction_phenotype0.75221419
82MP0000631_abnormal_neuroendocrine_gland0.73870168
83MP0002876_abnormal_thyroid_physiology0.73772539
84* MP0003634_abnormal_glial_cell0.71605445
85MP0001346_abnormal_lacrimal_gland0.69451441
86MP0003938_abnormal_ear_development0.67839057
87MP0000579_abnormal_nail_morphology0.67314477
88MP0002638_abnormal_pupillary_reflex0.66845408
89MP0004510_myositis0.66358703
90MP0004484_altered_response_of0.65469331
91MP0000534_abnormal_ureter_morphology0.65421638
92MP0005187_abnormal_penis_morphology0.63937081
93MP0001664_abnormal_digestion0.63936149
94MP0000604_amyloidosis0.63067397
95MP0001299_abnormal_eye_distance/0.62103475
96MP0004215_abnormal_myocardial_fiber0.61697882
97MP0004147_increased_porphyrin_level0.60547218
98MP0003283_abnormal_digestive_organ0.59994041
99MP0005171_absent_coat_pigmentation0.58331359
100MP0000026_abnormal_inner_ear0.57873008
101MP0003137_abnormal_impulse_conducting0.57588849
102MP0001986_abnormal_taste_sensitivity0.57327170
103MP0002090_abnormal_vision0.55866463
104MP0005253_abnormal_eye_physiology0.55673131
105MP0001943_abnormal_respiration0.55246570
106MP0002751_abnormal_autonomic_nervous0.54727989
107MP0002837_dystrophic_cardiac_calcinosis0.52751699
108* MP0002081_perinatal_lethality0.52540098
109MP0003861_abnormal_nervous_system0.51980665
110MP0000013_abnormal_adipose_tissue0.51977130
111MP0003890_abnormal_embryonic-extraembry0.50892179
112* MP0010769_abnormal_survival0.50859809
113* MP0002082_postnatal_lethality0.50034357
114* MP0010770_preweaning_lethality0.50034357
115MP0008961_abnormal_basal_metabolism0.49382890
116* MP0010768_mortality/aging0.47683854
117MP0005623_abnormal_meninges_morphology0.46993577
118MP0005167_abnormal_blood-brain_barrier0.46071284

Predicted human phenotypes

RankGene SetZ-score
1* Focal motor seizures (HP:0011153)7.71769562
2Myokymia (HP:0002411)7.48775733
3* Focal seizures (HP:0007359)5.67744659
4Epileptic encephalopathy (HP:0200134)5.30397259
5Febrile seizures (HP:0002373)4.90837475
6Atonic seizures (HP:0010819)4.57870887
7Visual hallucinations (HP:0002367)4.51616995
8Progressive cerebellar ataxia (HP:0002073)4.33532976
9Absence seizures (HP:0002121)4.29851713
10Hyperventilation (HP:0002883)4.25656779
11Broad-based gait (HP:0002136)4.06563265
12Dialeptic seizures (HP:0011146)3.97134607
13Action tremor (HP:0002345)3.92378759
14Gaze-evoked nystagmus (HP:0000640)3.70035774
15* Generalized tonic-clonic seizures (HP:0002069)3.61248925
16Poor eye contact (HP:0000817)3.58728252
17Impaired vibration sensation in the lower limbs (HP:0002166)3.53122951
18Ankle clonus (HP:0011448)3.27776245
19Urinary bladder sphincter dysfunction (HP:0002839)3.26689517
20Dysmetria (HP:0001310)3.25639247
21Supranuclear gaze palsy (HP:0000605)3.20924359
22Dysdiadochokinesis (HP:0002075)3.20562718
23Impaired social interactions (HP:0000735)3.20072628
24Abnormal social behavior (HP:0012433)3.20072628
25Amblyopia (HP:0000646)3.18043559
26Truncal ataxia (HP:0002078)3.09837564
27Anxiety (HP:0000739)3.04492866
28Depression (HP:0000716)3.04268604
29Excessive salivation (HP:0003781)2.96143886
30Drooling (HP:0002307)2.96143886
31Abnormal eating behavior (HP:0100738)2.83929363
32Scanning speech (HP:0002168)2.80536547
33Papilledema (HP:0001085)2.75865501
34Absent speech (HP:0001344)2.74625383
35Postural instability (HP:0002172)2.73169975
36Spastic gait (HP:0002064)2.72036295
37Urinary urgency (HP:0000012)2.66931486
38Epileptiform EEG discharges (HP:0011182)2.66857703
39Stereotypic behavior (HP:0000733)2.66049447
40Torticollis (HP:0000473)2.61561712
41Genetic anticipation (HP:0003743)2.61140540
42Impaired smooth pursuit (HP:0007772)2.59654121
43Hemiparesis (HP:0001269)2.52777515
44Termporal pattern (HP:0011008)2.52386351
45Insidious onset (HP:0003587)2.52386351
46Abnormality of the corticospinal tract (HP:0002492)2.51910128
47Impaired vibratory sensation (HP:0002495)2.49342567
48Neurofibrillary tangles (HP:0002185)2.47408796
49Focal dystonia (HP:0004373)2.46366078
50Mutism (HP:0002300)2.45503193
51Progressive inability to walk (HP:0002505)2.45172081
52Fetal akinesia sequence (HP:0001989)2.43211611
53Inability to walk (HP:0002540)2.41533951
54Megalencephaly (HP:0001355)2.41388546
55EEG with generalized epileptiform discharges (HP:0011198)2.39520061
56Intention tremor (HP:0002080)2.38337104
57Cerebral inclusion bodies (HP:0100314)2.33563478
58Tetraplegia (HP:0002445)2.33037636
59Diplopia (HP:0000651)2.32353884
60Abnormality of binocular vision (HP:0011514)2.32353884
61Blue irides (HP:0000635)2.31642345
62Protruding tongue (HP:0010808)2.24829237
63Delusions (HP:0000746)2.23416843
64Akinesia (HP:0002304)2.23084302
65Hypsarrhythmia (HP:0002521)2.23007218
66Bradykinesia (HP:0002067)2.22655192
67Dysmetric saccades (HP:0000641)2.20832965
68Abnormality of ocular smooth pursuit (HP:0000617)2.20107877
69Amyotrophic lateral sclerosis (HP:0007354)2.19705497
70Degeneration of the lateral corticospinal tracts (HP:0002314)2.19432444
71Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.19432444
72Volvulus (HP:0002580)2.19064466
73Lower limb muscle weakness (HP:0007340)2.19053022
74Abnormality of salivation (HP:0100755)2.15868150
75Pheochromocytoma (HP:0002666)2.15799823
76Craniofacial dystonia (HP:0012179)2.13581317
77Limb dystonia (HP:0002451)2.13025094
78Hemiplegia (HP:0002301)2.11484701
79Generalized myoclonic seizures (HP:0002123)2.09793093
80Status epilepticus (HP:0002133)2.09508269
81Incomplete penetrance (HP:0003829)2.07802148
82Abnormality of the labia minora (HP:0012880)2.01731744
83Polyphagia (HP:0002591)1.98276019
84Annular pancreas (HP:0001734)1.97588032
85Lower limb amyotrophy (HP:0007210)1.97558867
86Sleep apnea (HP:0010535)1.97226308
87Cerebral hypomyelination (HP:0006808)1.95966874
88Gait ataxia (HP:0002066)1.94750860
89Obstructive sleep apnea (HP:0002870)1.92669975
90Aplasia involving bones of the extremities (HP:0009825)1.92434926
91Aplasia involving bones of the upper limbs (HP:0009823)1.92434926
92Aplasia of the phalanges of the hand (HP:0009802)1.92434926
93Prolonged QT interval (HP:0001657)1.91554949
94Abnormality of the lower motor neuron (HP:0002366)1.88092989
95Spastic tetraparesis (HP:0001285)1.87650112
96Apathy (HP:0000741)1.86801476
97Cutaneous finger syndactyly (HP:0010554)1.85981102
98Neuronal loss in central nervous system (HP:0002529)1.84579370
99Neuroendocrine neoplasm (HP:0100634)1.82677849
100Thickened helices (HP:0000391)1.82616997
101Widely spaced teeth (HP:0000687)1.82004434
102Hypoplasia of the corpus callosum (HP:0002079)1.81558828
103Abnormal EKG (HP:0003115)1.81207958
104Inappropriate behavior (HP:0000719)1.81118973
105Generalized hypopigmentation of hair (HP:0011358)1.80582426
106Aqueductal stenosis (HP:0002410)1.80341029
107Morphological abnormality of the pyramidal tract (HP:0002062)1.79177520
108Pointed chin (HP:0000307)1.78630352
109Specific learning disability (HP:0001328)1.77692004
110Exotropia (HP:0000577)1.76399676
111Abnormality of saccadic eye movements (HP:0000570)1.76072062
112Gastroesophageal reflux (HP:0002020)1.75239775
113Absent/shortened dynein arms (HP:0200106)1.75232295
114Dynein arm defect of respiratory motile cilia (HP:0012255)1.75232295
115Clonus (HP:0002169)1.75136068
116Mild short stature (HP:0003502)1.72721075
117Deeply set eye (HP:0000490)1.72569272
118Optic nerve hypoplasia (HP:0000609)1.72279150
119Spastic tetraplegia (HP:0002510)1.70382382
120Syncope (HP:0001279)1.68317506
121Peripheral hypomyelination (HP:0007182)1.67765051
122Intellectual disability, severe (HP:0010864)1.65272494
123Bronchomalacia (HP:0002780)1.64883411

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.38200816
2NTRK34.70162853
3MAP3K93.21841923
4MAP3K42.92655145
5CASK2.64944601
6MAP2K72.61282057
7DAPK22.60163026
8MARK12.59281495
9MINK12.41820325
10RIPK42.37954321
11TNIK1.98343973
12NTRK21.96223723
13PAK61.93187408
14NTRK11.86415122
15DAPK11.85422474
16PRKD31.82246659
17KSR21.81574315
18MAP3K121.75309127
19MAP2K41.74164069
20PRPF4B1.64780271
21CAMKK11.64689030
22CDK51.55871135
23KSR11.55859581
24PLK21.46645284
25MAPK131.41792539
26CDK191.40861908
27FES1.26530799
28SIK21.23801208
29PNCK1.23142290
30MAP3K131.22500902
31GRK51.22161611
32PRKCG1.20955487
33BMPR21.13170641
34CAMK2A1.12451247
35CAMK2B1.11520877
36PKN11.10146870
37CAMKK21.09447104
38OXSR11.09012256
39SGK2231.08527290
40SGK4941.08527290
41STK381.08182814
42ARAF1.06721003
43MAP3K21.02050497
44UHMK10.96813249
45SGK20.96736827
46TYRO30.91550347
47CAMK10.91300478
48DYRK20.89837565
49PTK2B0.88341595
50CDK180.87638160
51FRK0.85983317
52STK110.84171142
53CDK150.83997943
54SGK10.81655476
55CDK140.80541973
56PINK10.78909743
57SGK30.75664872
58RAF10.73231100
59CDK11A0.72261641
60PRKCH0.71663884
61TAOK10.71235693
62EPHB20.68374683
63NEK60.67867640
64MUSK0.67850305
65SIK30.66992893
66PDK10.66585582
67PHKG10.65749949
68PHKG20.65749949
69RET0.65158799
70CDK30.64567730
71CSNK1G20.62815058
72PDPK10.61825118
73MARK20.60793022
74PRKCE0.59884518
75AKT30.59488193
76TNK20.58349482
77BCR0.58278910
78CCNB10.57457016
79PAK30.56734811
80CAMK2D0.55516714
81STK390.55096804
82DYRK1A0.55069164
83FGR0.54329636
84MAP4K20.49817180
85CAMK1G0.49745560
86LATS20.49593147
87BRSK10.49531253
88CSNK1D0.49403953
89ROCK10.49186838
90WNK10.48689852
91FYN0.48274711
92YES10.48080792
93RPS6KA30.47387861
94PRKG10.47275402
95CAMK2G0.46751998
96PRKCZ0.46612888
97FGFR20.45500625
98MAP3K70.44414113
99CAMK40.44103280
100MAP3K10.41887404
101MAPK100.41514494
102ALK0.41508073
103NME10.41497025
104LMTK20.41091196
105GRK70.40328607
106MAPK120.38953454
107DMPK0.38895798
108MAPK80.38372629
109WNK30.37286538
110MAP3K60.36649156
111GSK3B0.36621945
112CDC42BPA0.36355121
113MKNK20.36048571
114ROCK20.35750787
115ERBB20.35512384
116CSNK1E0.35223647
117MAPKAPK50.35062411
118MAP2K10.35033540
119INSRR0.34329744
120PRKCB0.33791059
121BRD40.30157387
122CSNK1A10.30051953
123LATS10.30011684
124PRKCA0.29029928
125PRKACA0.28415153

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.88249161
2Synaptic vesicle cycle_Homo sapiens_hsa047213.00590514
3Circadian entrainment_Homo sapiens_hsa047132.84112809
4Long-term potentiation_Homo sapiens_hsa047202.82962209
5Olfactory transduction_Homo sapiens_hsa047402.82838847
6Glutamatergic synapse_Homo sapiens_hsa047242.75346013
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74880738
8Amphetamine addiction_Homo sapiens_hsa050312.70402530
9GABAergic synapse_Homo sapiens_hsa047272.66051761
10Morphine addiction_Homo sapiens_hsa050322.64880382
11Dopaminergic synapse_Homo sapiens_hsa047282.28341549
12Salivary secretion_Homo sapiens_hsa049702.27905870
13Insulin secretion_Homo sapiens_hsa049111.96798577
14* Cholinergic synapse_Homo sapiens_hsa047251.94461206
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94095629
16Gastric acid secretion_Homo sapiens_hsa049711.88824586
17Cocaine addiction_Homo sapiens_hsa050301.87338091
18Taste transduction_Homo sapiens_hsa047421.86649963
19Serotonergic synapse_Homo sapiens_hsa047261.84067184
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83977741
21Renin secretion_Homo sapiens_hsa049241.81728096
22Calcium signaling pathway_Homo sapiens_hsa040201.74779770
23Long-term depression_Homo sapiens_hsa047301.73669794
24Oxytocin signaling pathway_Homo sapiens_hsa049211.70243943
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.60654207
26GnRH signaling pathway_Homo sapiens_hsa049121.42644142
27Collecting duct acid secretion_Homo sapiens_hsa049661.39104661
28cAMP signaling pathway_Homo sapiens_hsa040241.35223760
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34338375
30Gap junction_Homo sapiens_hsa045401.34002199
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32984066
32Axon guidance_Homo sapiens_hsa043601.25776506
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.23199222
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17143858
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.13798896
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12553722
37Type II diabetes mellitus_Homo sapiens_hsa049301.10828408
38Glioma_Homo sapiens_hsa052141.09788819
39Estrogen signaling pathway_Homo sapiens_hsa049151.06136068
40ErbB signaling pathway_Homo sapiens_hsa040121.05823742
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05691578
42Melanogenesis_Homo sapiens_hsa049161.04594957
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.98656268
44Pancreatic secretion_Homo sapiens_hsa049720.90601341
45Nitrogen metabolism_Homo sapiens_hsa009100.89209879
46Phototransduction_Homo sapiens_hsa047440.88816954
47Dorso-ventral axis formation_Homo sapiens_hsa043200.88250566
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.86618481
49Cardiac muscle contraction_Homo sapiens_hsa042600.86209479
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.85423616
51Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83068712
52Vibrio cholerae infection_Homo sapiens_hsa051100.80642487
53Choline metabolism in cancer_Homo sapiens_hsa052310.76540215
54Oocyte meiosis_Homo sapiens_hsa041140.75838604
55MAPK signaling pathway_Homo sapiens_hsa040100.75341643
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73899343
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73729312
58Vitamin B6 metabolism_Homo sapiens_hsa007500.72742733
59Thyroid hormone synthesis_Homo sapiens_hsa049180.71150811
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69640557
61Ras signaling pathway_Homo sapiens_hsa040140.68725992
62Dilated cardiomyopathy_Homo sapiens_hsa054140.68639983
63African trypanosomiasis_Homo sapiens_hsa051430.65780199
64Rap1 signaling pathway_Homo sapiens_hsa040150.63671678
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.61062698
66VEGF signaling pathway_Homo sapiens_hsa043700.59766698
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.59281057
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58865335
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56404236
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54428064
71Fatty acid biosynthesis_Homo sapiens_hsa000610.54097426
72Alcoholism_Homo sapiens_hsa050340.54076358
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.53604881
74Glucagon signaling pathway_Homo sapiens_hsa049220.50840538
75Wnt signaling pathway_Homo sapiens_hsa043100.49403662
76Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48746359
77Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48031088
78Hippo signaling pathway_Homo sapiens_hsa043900.47893031
79Inositol phosphate metabolism_Homo sapiens_hsa005620.47567587
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46271203
81Type I diabetes mellitus_Homo sapiens_hsa049400.44281038
82Circadian rhythm_Homo sapiens_hsa047100.43734899
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43442320
84Ovarian steroidogenesis_Homo sapiens_hsa049130.41716050
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41168358
86Alzheimers disease_Homo sapiens_hsa050100.40441646
87Endocytosis_Homo sapiens_hsa041440.39888897
88Non-small cell lung cancer_Homo sapiens_hsa052230.39558289
89Chemokine signaling pathway_Homo sapiens_hsa040620.39338354
90Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39248781
91Hedgehog signaling pathway_Homo sapiens_hsa043400.38776147
92Tight junction_Homo sapiens_hsa045300.36384968
93Bile secretion_Homo sapiens_hsa049760.35364717
94mTOR signaling pathway_Homo sapiens_hsa041500.34384138
95Ether lipid metabolism_Homo sapiens_hsa005650.34108620
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33347871
97Renal cell carcinoma_Homo sapiens_hsa052110.32903453
98Endometrial cancer_Homo sapiens_hsa052130.31871489
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31237741
100Prion diseases_Homo sapiens_hsa050200.30098551
101Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.29577382
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29426877
103Butanoate metabolism_Homo sapiens_hsa006500.28247403
104Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.27707189
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26974153
106beta-Alanine metabolism_Homo sapiens_hsa004100.26014840
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25192751
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.24660402
109Insulin signaling pathway_Homo sapiens_hsa049100.24354259
110Glycerophospholipid metabolism_Homo sapiens_hsa005640.24023260
111Protein digestion and absorption_Homo sapiens_hsa049740.23831149
112Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23742709
113Histidine metabolism_Homo sapiens_hsa003400.23103278
114Glycerolipid metabolism_Homo sapiens_hsa005610.19219617

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