KCNT1

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: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing 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)5.99617448
2locomotory exploration behavior (GO:0035641)5.99001389
3synaptic vesicle maturation (GO:0016188)5.84135837
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.63843316
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.60676943
6neuronal action potential propagation (GO:0019227)5.52713794
7vocalization behavior (GO:0071625)5.21224589
8synaptic vesicle exocytosis (GO:0016079)5.09289529
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.97805468
10gamma-aminobutyric acid transport (GO:0015812)4.93267237
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.85066831
12cellular potassium ion homeostasis (GO:0030007)4.78398244
13regulation of synaptic vesicle exocytosis (GO:2000300)4.77198197
14neurotransmitter secretion (GO:0007269)4.75554944
15glutamate secretion (GO:0014047)4.70148519
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.60413604
17membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.59096999
18sodium ion export (GO:0071436)4.53434753
19glutamate receptor signaling pathway (GO:0007215)4.50220665
20synaptic transmission, glutamatergic (GO:0035249)4.48072391
21regulation of glutamate receptor signaling pathway (GO:1900449)4.42584443
22cerebellar Purkinje cell differentiation (GO:0021702)4.41303369
23regulation of synapse structural plasticity (GO:0051823)4.36781217
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.35590959
25neuron-neuron synaptic transmission (GO:0007270)4.21521267
26regulation of synaptic vesicle transport (GO:1902803)4.20080975
27regulation of neuronal synaptic plasticity (GO:0048168)4.18611862
28regulation of synapse maturation (GO:0090128)4.17978531
29neuromuscular process controlling posture (GO:0050884)4.16004101
30exploration behavior (GO:0035640)4.15548197
31long-term memory (GO:0007616)4.13229425
32cerebellar granule cell differentiation (GO:0021707)4.13071036
33positive regulation of dendritic spine development (GO:0060999)4.11605842
34amino acid import (GO:0043090)4.08280633
35layer formation in cerebral cortex (GO:0021819)4.05374464
36prepulse inhibition (GO:0060134)4.01536664
37protein localization to synapse (GO:0035418)4.00611616
38neuromuscular process controlling balance (GO:0050885)3.95093406
39central nervous system myelination (GO:0022010)3.93092853
40axon ensheathment in central nervous system (GO:0032291)3.93092853
41G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.91758706
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.90749072
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.89011985
44neurotransmitter-gated ion channel clustering (GO:0072578)3.87732721
45membrane depolarization during action potential (GO:0086010)3.87585095
46postsynaptic membrane organization (GO:0001941)3.84915723
47transmission of nerve impulse (GO:0019226)3.82455656
48neurotransmitter transport (GO:0006836)3.81240113
49glycine transport (GO:0015816)3.81070406
50positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.77771150
51positive regulation of membrane potential (GO:0045838)3.77501135
52regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.72757227
53negative regulation of dendrite morphogenesis (GO:0050774)3.70912205
54regulation of postsynaptic membrane potential (GO:0060078)3.70641650
55neuron cell-cell adhesion (GO:0007158)3.68555132
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.67720313
57positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.64795884
58positive regulation of synapse maturation (GO:0090129)3.63447874
59neuromuscular synaptic transmission (GO:0007274)3.62723917
60dendritic spine morphogenesis (GO:0060997)3.62413465
61proline transport (GO:0015824)3.61252835
62response to pheromone (GO:0019236)3.60677869
63regulation of neurotransmitter levels (GO:0001505)3.60454926
64auditory behavior (GO:0031223)3.60446413
65regulation of cell communication by electrical coupling (GO:0010649)3.57385451
66regulation of dendritic spine development (GO:0060998)3.56439862
67regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.56311200
68positive regulation of dendritic spine morphogenesis (GO:0061003)3.56075469
69membrane hyperpolarization (GO:0060081)3.53458613
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.49569063
71activation of protein kinase A activity (GO:0034199)3.49491263
72gamma-aminobutyric acid signaling pathway (GO:0007214)3.48286357
73membrane depolarization (GO:0051899)3.46991806
74neuronal ion channel clustering (GO:0045161)3.42327463
75regulation of neurotransmitter secretion (GO:0046928)3.42122807
76regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.41938531
77positive regulation of synaptic transmission, GABAergic (GO:0032230)3.40370280
78potassium ion import (GO:0010107)3.40066554
79cell communication by electrical coupling (GO:0010644)3.39611723
80response to auditory stimulus (GO:0010996)3.38755277
81neurotransmitter uptake (GO:0001504)3.38720984
82positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.38435632
83regulation of dendritic spine morphogenesis (GO:0061001)3.37597827
84cell differentiation in hindbrain (GO:0021533)3.36063064
85regulation of synaptic plasticity (GO:0048167)3.34857423
86adult walking behavior (GO:0007628)3.34357397
87regulation of voltage-gated calcium channel activity (GO:1901385)3.30483617
88synaptic vesicle endocytosis (GO:0048488)3.27718870
89negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.27499589
90regulation of neurotransmitter transport (GO:0051588)3.25703423
91negative regulation of synaptic transmission, GABAergic (GO:0032229)3.24535482
92acidic amino acid transport (GO:0015800)3.21279594
93dendritic spine organization (GO:0097061)3.20389523
94regulation of synaptic transmission (GO:0050804)3.19659855
95chemosensory behavior (GO:0007635)3.18774655
96neuromuscular process (GO:0050905)3.18732345
97regulation of vesicle fusion (GO:0031338)3.17688615
98vesicle docking involved in exocytosis (GO:0006904)3.17146191
99potassium ion homeostasis (GO:0055075)3.17020270
100cytoskeletal anchoring at plasma membrane (GO:0007016)3.16627345
101positive regulation of neurotransmitter transport (GO:0051590)3.15869565
102dendrite morphogenesis (GO:0048813)3.15326479
103mating behavior (GO:0007617)3.11716783
104long-term synaptic potentiation (GO:0060291)3.10594975
105cellular sodium ion homeostasis (GO:0006883)3.10367465
106positive regulation of potassium ion transmembrane transport (GO:1901381)3.10246868
107detection of calcium ion (GO:0005513)3.08285083
108mechanosensory behavior (GO:0007638)3.06041934
109regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.04682871
110synaptic vesicle transport (GO:0048489)3.04414222
111establishment of synaptic vesicle localization (GO:0097480)3.04414222
112positive regulation of dendrite development (GO:1900006)3.03216219
113L-amino acid import (GO:0043092)3.00653186
114behavioral response to cocaine (GO:0048148)2.99093506
115positive regulation of neurotransmitter secretion (GO:0001956)2.98785352
116cell communication involved in cardiac conduction (GO:0086065)2.97665797
117intraspecies interaction between organisms (GO:0051703)2.96811279
118regulation of ARF protein signal transduction (GO:0032012)2.96715180
119striatum development (GO:0021756)2.96289525
120synapse assembly (GO:0007416)2.96015633
121negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.95950027
122negative regulation of cytosolic calcium ion concentration (GO:0051481)2.95795787
123establishment of nucleus localization (GO:0040023)2.95315393
124synaptic transmission (GO:0007268)2.95130188
125learning (GO:0007612)2.94820587

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.64596040
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17213176
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08393104
4GBX2_23144817_ChIP-Seq_PC3_Human3.00224250
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96102798
6DROSHA_22980978_ChIP-Seq_HELA_Human2.92986907
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.84811824
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83558654
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83558654
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.76583285
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67399573
12IKZF1_21737484_ChIP-ChIP_HCT116_Human2.61105726
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.60521749
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53814030
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53577125
16* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52213296
17MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.51635780
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45681608
19EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.36159474
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.32486788
21* REST_18959480_ChIP-ChIP_MESCs_Mouse2.26746310
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.26433107
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.23822539
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.23455337
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.16731601
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99560847
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.90232720
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.85609775
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.80595994
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.77509872
31AR_21572438_ChIP-Seq_LNCaP_Human1.70905639
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62262515
33SMAD4_21799915_ChIP-Seq_A2780_Human1.54128890
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.48063025
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.41737789
36ZNF274_21170338_ChIP-Seq_K562_Hela1.37703443
37RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36602286
38KDM2B_26808549_Chip-Seq_K562_Human1.34667936
39TAF15_26573619_Chip-Seq_HEK293_Human1.30164598
40* AR_19668381_ChIP-Seq_PC3_Human1.28570681
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27675855
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.26767405
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.26508704
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.25533985
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23093565
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22679136
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.22484255
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22395556
49SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22123018
50STAT3_23295773_ChIP-Seq_U87_Human1.20837561
51* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19026456
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18448305
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17981019
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.15172519
55CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.14084748
56GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13483525
57PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13152886
58ESR2_21235772_ChIP-Seq_MCF-7_Human1.10328987
59WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.10271557
60AR_25329375_ChIP-Seq_VCAP_Human1.09587629
61PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.08931844
62ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08907954
63ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06837003
64RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.06416370
65TP53_16413492_ChIP-PET_HCT116_Human1.06365885
66OCT4_19829295_ChIP-Seq_ESCs_Human1.05935960
67RING1B_27294783_Chip-Seq_NPCs_Mouse1.05234150
68TCF4_23295773_ChIP-Seq_U87_Human1.03721774
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03560467
70* SMAD3_21741376_ChIP-Seq_EPCs_Human1.03358149
71P300_19829295_ChIP-Seq_ESCs_Human1.02723495
72ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02321639
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02048559
74RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.01699885
75THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00771146
76YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99463775
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99300357
78* LXR_22292898_ChIP-Seq_THP-1_Human0.99079465
79* P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98952230
80KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98460201
81PIAS1_25552417_ChIP-Seq_VCAP_Human0.97679715
82AHR_22903824_ChIP-Seq_MCF-7_Human0.97559834
83* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97414692
84DPY_21335234_ChIP-Seq_ESCs_Mouse0.97105143
85* TET1_21490601_ChIP-Seq_MESCs_Mouse0.96277567
86ARNT_22903824_ChIP-Seq_MCF-7_Human0.95911610
87ZFP57_27257070_Chip-Seq_ESCs_Mouse0.95344517
88SMAD4_21741376_ChIP-Seq_HESCs_Human0.94868897
89OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94095720
90BMI1_23680149_ChIP-Seq_NPCS_Mouse0.93666591
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93571867
92* SMAD3_21741376_ChIP-Seq_ESCs_Human0.93557728
93SMAD3_21741376_ChIP-Seq_HESCs_Human0.91565456
94ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91556984
95CBX2_27304074_Chip-Seq_ESCs_Mouse0.91190793
96RXR_22108803_ChIP-Seq_LS180_Human0.90098093
97TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89951176
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89529396
99SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88650311
100* RUNX2_22187159_ChIP-Seq_PCA_Human0.88462128
101GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88211259
102* SMC4_20622854_ChIP-Seq_HELA_Human0.88029058
103AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87325487
104CTCF_27219007_Chip-Seq_Bcells_Human0.87056920
105CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85431158
106SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85028109
107SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84643276
108* KLF4_19829295_ChIP-Seq_ESCs_Human0.83656688
109NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83599030
110GATA1_26923725_Chip-Seq_HPCs_Mouse0.82533938
111SRY_22984422_ChIP-ChIP_TESTIS_Rat0.82095745
112EGR1_19032775_ChIP-ChIP_M12_Human0.81964995
113* SMAD4_21741376_ChIP-Seq_EPCs_Human0.81683945
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.81526726
115RNF2_27304074_Chip-Seq_NSC_Mouse0.81144365
116BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81012674
117* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.77806608
118* SMAD4_21741376_ChIP-Seq_ESCs_Human0.76360177
119CREB1_26743006_Chip-Seq_LNCaP_Human0.74123088
120MYC_19915707_ChIP-ChIP_AK7_Human0.73435543
121TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73405206
122SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.72814004
123P68_20966046_ChIP-Seq_HELA_Human0.71804714
124TP53_20018659_ChIP-ChIP_R1E_Mouse0.71641361
125RUNX1_26923725_Chip-Seq_HPCs_Mouse0.69755673
126KDM2B_26808549_Chip-Seq_DND41_Human0.69419201
127TP53_23651856_ChIP-Seq_MEFs_Mouse0.68754115
128DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.68726931

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.23402040
2MP0003635_abnormal_synaptic_transmissio4.19208395
3MP0009046_muscle_twitch4.06650118
4MP0003880_abnormal_central_pattern3.99129432
5MP0002822_catalepsy3.68440599
6MP0004270_analgesia3.62174006
7MP0009745_abnormal_behavioral_response3.50107588
8MP0001968_abnormal_touch/_nociception3.34781966
9MP0002064_seizures3.25576262
10MP0002063_abnormal_learning/memory/cond3.16187901
11MP0005423_abnormal_somatic_nervous3.01136853
12MP0002272_abnormal_nervous_system2.98434637
13MP0002734_abnormal_mechanical_nocicepti2.84041554
14MP0002572_abnormal_emotion/affect_behav2.76505294
15MP0002736_abnormal_nociception_after2.61725303
16MP0001486_abnormal_startle_reflex2.60235993
17MP0008569_lethality_at_weaning2.55696819
18MP0002735_abnormal_chemical_nociception2.44170343
19MP0001501_abnormal_sleep_pattern2.40733648
20MP0002067_abnormal_sensory_capabilities2.23819679
21MP0002733_abnormal_thermal_nociception2.23678040
22MP0001440_abnormal_grooming_behavior2.19899130
23MP0001970_abnormal_pain_threshold2.13154983
24MP0002184_abnormal_innervation1.95302059
25MP0005386_behavior/neurological_phenoty1.82742763
26MP0004924_abnormal_behavior1.82742763
27MP0002909_abnormal_adrenal_gland1.82466961
28MP0003329_amyloid_beta_deposits1.78929204
29MP0002557_abnormal_social/conspecific_i1.76249134
30MP0004858_abnormal_nervous_system1.74886416
31MP0004811_abnormal_neuron_physiology1.69590905
32MP0004145_abnormal_muscle_electrophysio1.68274213
33MP0003879_abnormal_hair_cell1.57312647
34MP0000955_abnormal_spinal_cord1.56532871
35MP0004885_abnormal_endolymph1.54509061
36MP0004142_abnormal_muscle_tone1.52086746
37MP0009780_abnormal_chondrocyte_physiolo1.50726125
38MP0003633_abnormal_nervous_system1.48595448
39MP0002066_abnormal_motor_capabilities/c1.48230859
40MP0001984_abnormal_olfaction1.45784213
41MP0005646_abnormal_pituitary_gland1.43114757
42MP0000778_abnormal_nervous_system1.41167653
43MP0002882_abnormal_neuron_morphology1.35366828
44MP0006276_abnormal_autonomic_nervous1.34441529
45MP0003631_nervous_system_phenotype1.28045960
46MP0008872_abnormal_physiological_respon1.26694896
47MP0003123_paternal_imprinting1.22804723
48MP0003690_abnormal_glial_cell1.19627769
49MP0001502_abnormal_circadian_rhythm1.19190944
50MP0001529_abnormal_vocalization1.14719513
51MP0004130_abnormal_muscle_cell1.13664543
52MP0003283_abnormal_digestive_organ1.11282646
53MP0005645_abnormal_hypothalamus_physiol1.08818281
54MP0003787_abnormal_imprinting1.08319666
55MP0003632_abnormal_nervous_system1.07869453
56MP0000920_abnormal_myelination1.07759932
57MP0004742_abnormal_vestibular_system1.07096131
58MP0000569_abnormal_digit_pigmentation1.07082116
59MP0008874_decreased_physiological_sensi1.04985049
60MP0002152_abnormal_brain_morphology1.04557278
61MP0002229_neurodegeneration1.02083230
62MP0000751_myopathy0.99916517
63MP0001188_hyperpigmentation0.96284238
64MP0001346_abnormal_lacrimal_gland0.94846701
65MP0001177_atelectasis0.94530138
66MP0000749_muscle_degeneration0.91376720
67MP0005167_abnormal_blood-brain_barrier0.89949955
68MP0003122_maternal_imprinting0.89933429
69MP0002069_abnormal_eating/drinking_beha0.89435945
70MP0008961_abnormal_basal_metabolism0.89425344
71MP0000013_abnormal_adipose_tissue0.88077644
72MP0004085_abnormal_heartbeat0.86112735
73MP0004043_abnormal_pH_regulation0.85572078
74MP0001348_abnormal_lacrimal_gland0.84298926
75MP0001905_abnormal_dopamine_level0.83977088
76MP0003634_abnormal_glial_cell0.83358872
77MP0001986_abnormal_taste_sensitivity0.81078259
78MP0000604_amyloidosis0.80420599
79MP0004215_abnormal_myocardial_fiber0.79930040
80MP0003137_abnormal_impulse_conducting0.79274803
81MP0005551_abnormal_eye_electrophysiolog0.78761039
82MP0008877_abnormal_DNA_methylation0.78519553
83MP0003045_fibrosis0.78197710
84MP0005535_abnormal_body_temperature0.77838727
85MP0001299_abnormal_eye_distance/0.76464117
86MP0003075_altered_response_to0.76168520
87MP0001485_abnormal_pinna_reflex0.75766196
88MP0003646_muscle_fatigue0.75744125
89MP0005409_darkened_coat_color0.69096750
90MP0004036_abnormal_muscle_relaxation0.68210879
91MP0001963_abnormal_hearing_physiology0.67776479
92MP0005499_abnormal_olfactory_system0.66410388
93MP0005394_taste/olfaction_phenotype0.66410388
94MP0002752_abnormal_somatic_nervous0.66253276
95MP0004147_increased_porphyrin_level0.65428946
96MP0004233_abnormal_muscle_weight0.64339110
97MP0002090_abnormal_vision0.62656478
98MP0010386_abnormal_urinary_bladder0.60910579
99MP0002638_abnormal_pupillary_reflex0.60626415
100MP0004484_altered_response_of0.59662576
101MP0000747_muscle_weakness0.57845776
102MP0004510_myositis0.57577860
103MP0010769_abnormal_survival0.57529331
104MP0002089_abnormal_postnatal_growth/wei0.57284077
105MP0002106_abnormal_muscle_physiology0.55463971
106MP0001943_abnormal_respiration0.55247987
107MP0010770_preweaning_lethality0.54315785
108MP0002082_postnatal_lethality0.54315785
109MP0010768_mortality/aging0.54180364
110MP0005623_abnormal_meninges_morphology0.53494107
111MP0005166_decreased_susceptibility_to0.53042714
112MP0001765_abnormal_ion_homeostasis0.53011351
113MP0000759_abnormal_skeletal_muscle0.52734659
114MP0002332_abnormal_exercise_endurance0.49613512
115MP0003956_abnormal_body_size0.48880198
116MP0005620_abnormal_muscle_contractility0.48800108

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.45141813
2Myokymia (HP:0002411)7.31266517
3Action tremor (HP:0002345)5.98322783
4* Focal seizures (HP:0007359)5.44913769
5Visual hallucinations (HP:0002367)5.41160925
6Progressive cerebellar ataxia (HP:0002073)5.37814277
7Atonic seizures (HP:0010819)4.60862294
8Gaze-evoked nystagmus (HP:0000640)4.58871768
9Febrile seizures (HP:0002373)4.54422857
10Epileptic encephalopathy (HP:0200134)4.31410510
11Absence seizures (HP:0002121)4.09226836
12Dysdiadochokinesis (HP:0002075)4.00995596
13Scanning speech (HP:0002168)3.87637348
14Generalized tonic-clonic seizures (HP:0002069)3.87613826
15Broad-based gait (HP:0002136)3.77905041
16Dialeptic seizures (HP:0011146)3.70660662
17Dysmetric saccades (HP:0000641)3.69942626
18Impaired smooth pursuit (HP:0007772)3.63348004
19Hemiplegia (HP:0002301)3.59090941
20Dysmetria (HP:0001310)3.59027116
21Ankle clonus (HP:0011448)3.52839737
22Supranuclear gaze palsy (HP:0000605)3.49132738
23Truncal ataxia (HP:0002078)3.47011564
24Cerebral hypomyelination (HP:0006808)3.45015844
25Obstructive sleep apnea (HP:0002870)3.41025001
26Intention tremor (HP:0002080)3.40366014
27Depression (HP:0000716)3.38005725
28Genetic anticipation (HP:0003743)3.35348753
29Abnormality of ocular smooth pursuit (HP:0000617)3.30683270
30Annular pancreas (HP:0001734)3.21330945
31Hemiparesis (HP:0001269)3.21113464
32Impaired vibration sensation in the lower limbs (HP:0002166)3.19934679
33Anxiety (HP:0000739)3.18604409
34Abnormality of the lower motor neuron (HP:0002366)3.08883610
35Urinary bladder sphincter dysfunction (HP:0002839)3.07802562
36Diplopia (HP:0000651)3.06588425
37Abnormality of binocular vision (HP:0011514)3.06588425
38Postural instability (HP:0002172)3.04456772
39Abnormal eating behavior (HP:0100738)2.99397335
40Delusions (HP:0000746)2.95378047
41Ventricular fibrillation (HP:0001663)2.80981573
42Torticollis (HP:0000473)2.77282957
43Akinesia (HP:0002304)2.76676571
44Spastic gait (HP:0002064)2.73663997
45Mutism (HP:0002300)2.69398983
46Muscle fiber inclusion bodies (HP:0100299)2.65821223
47Urinary urgency (HP:0000012)2.62644369
48* Poor eye contact (HP:0000817)2.58040489
49Postural tremor (HP:0002174)2.57150650
50Papilledema (HP:0001085)2.54972113
51Nemaline bodies (HP:0003798)2.54770737
52* Impaired social interactions (HP:0000735)2.54515179
53* Abnormal social behavior (HP:0012433)2.54515179
54Stereotypic behavior (HP:0000733)2.53854674
55Abnormality of saccadic eye movements (HP:0000570)2.52447999
56Exercise-induced myalgia (HP:0003738)2.52242102
57Focal dystonia (HP:0004373)2.52197571
58Pointed chin (HP:0000307)2.50900386
59Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.49904198
60Heart block (HP:0012722)2.43771971
61Amblyopia (HP:0000646)2.43360502
62Abnormality of the corticospinal tract (HP:0002492)2.40503330
63Sleep apnea (HP:0010535)2.36333511
64Bradykinesia (HP:0002067)2.35456276
65Spastic tetraparesis (HP:0001285)2.29720063
66Exercise-induced muscle cramps (HP:0003710)2.27753979
67Craniofacial dystonia (HP:0012179)2.27250316
68Impaired vibratory sensation (HP:0002495)2.26685335
69Hyporeflexia of lower limbs (HP:0002600)2.25498678
70Bundle branch block (HP:0011710)2.24698754
71Choreoathetosis (HP:0001266)2.21509841
72Resting tremor (HP:0002322)2.21207381
73Apathy (HP:0000741)2.21073426
74* Clonus (HP:0002169)2.20978970
75Pheochromocytoma (HP:0002666)2.20940514
76Gait ataxia (HP:0002066)2.19550625
77* Tetraplegia (HP:0002445)2.19245337
78Agitation (HP:0000713)2.19154678
79Progressive inability to walk (HP:0002505)2.18925804
80Abnormal atrioventricular conduction (HP:0005150)2.18571732
81Rapidly progressive (HP:0003678)2.13954808
82Limb ataxia (HP:0002070)2.12246581
83Lower limb asymmetry (HP:0100559)2.11623586
84Hyperventilation (HP:0002883)2.11410626
85Megalencephaly (HP:0001355)2.11025129
86Drooling (HP:0002307)2.10605578
87Excessive salivation (HP:0003781)2.10605578
88Termporal pattern (HP:0011008)2.09419742
89Insidious onset (HP:0003587)2.09419742
90Lower limb muscle weakness (HP:0007340)2.07142516
91Insomnia (HP:0100785)2.06834381
92Incomplete penetrance (HP:0003829)2.06565094
93Neurofibrillary tangles (HP:0002185)2.06400344
94Degeneration of the lateral corticospinal tracts (HP:0002314)2.06088792
95Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.06088792
96Horizontal nystagmus (HP:0000666)2.05830672
97CNS hypomyelination (HP:0003429)2.03253819
98* Status epilepticus (HP:0002133)2.02809671
99Epileptiform EEG discharges (HP:0011182)2.01644971
100Sudden death (HP:0001699)2.00894689
101EEG with generalized epileptiform discharges (HP:0011198)1.99980236
102Spinal canal stenosis (HP:0003416)1.99716616
103Peripheral hypomyelination (HP:0007182)1.99086272
104Abnormal EKG (HP:0003115)1.98542706
105Prolonged QT interval (HP:0001657)1.98211054
106Fetal akinesia sequence (HP:0001989)1.96791033
107Diminished motivation (HP:0000745)1.95281711
108Limb dystonia (HP:0002451)1.94771471
109Amyotrophic lateral sclerosis (HP:0007354)1.93940487
110Morphological abnormality of the pyramidal tract (HP:0002062)1.93590795
111Hypsarrhythmia (HP:0002521)1.91846812
112Unsteady gait (HP:0002317)1.91006957
113* Neuronal loss in central nervous system (HP:0002529)1.89054648
114EMG: neuropathic changes (HP:0003445)1.87916176
115Slow progression (HP:0003677)1.84619399
116Increased circulating renin level (HP:0000848)1.84431016
117Cerebral inclusion bodies (HP:0100314)1.84009049
118Absent speech (HP:0001344)1.81360854
119Neuroendocrine neoplasm (HP:0100634)1.81075634
120Rigidity (HP:0002063)1.80284407
121Lower limb amyotrophy (HP:0007210)1.79249436
122Myotonia (HP:0002486)1.78344867
123Neoplasm of the heart (HP:0100544)1.76952948
124Aqueductal stenosis (HP:0002410)1.76055168
125Distal upper limb amyotrophy (HP:0007149)1.74976878
126Upper limb amyotrophy (HP:0009129)1.74976878
127Aplasia involving bones of the upper limbs (HP:0009823)1.73993405
128Aplasia of the phalanges of the hand (HP:0009802)1.73993405
129Aplasia involving bones of the extremities (HP:0009825)1.73993405
130Generalized myoclonic seizures (HP:0002123)1.72108578

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.38127845
2EPHA43.95567374
3MAP3K93.81373356
4MAP3K42.78979802
5DAPK22.66416741
6MINK12.58103404
7RIPK42.40477720
8CAMKK22.35941835
9CAMKK12.35737646
10PAK62.26598499
11NTRK22.25208726
12KSR22.14566979
13NTRK12.13080770
14MARK12.08978420
15MAP2K72.06547119
16TNIK1.98062377
17MAP2K41.92715535
18PRKD31.92419796
19STK381.85920692
20RIPK11.65836367
21WNK11.52845564
22CDK51.51202771
23MAP3K121.46135100
24OBSCN1.41044447
25TYRO31.41009801
26CDK191.38686226
27SIK21.34485632
28KSR11.33024703
29DAPK11.32790186
30PNCK1.30660567
31GRK51.29473639
32PRPF4B1.28277240
33SGK4941.22236727
34SGK2231.22236727
35MAPK121.20589290
36PRKCG1.20222945
37FES1.17002815
38MAP3K21.15688976
39MAPK131.13064302
40MAP3K131.12892229
41SGK21.11353136
42UHMK11.09668420
43PRKCH1.09317008
44ARAF1.07952339
45PINK11.07664587
46TAOK11.05672852
47SGK31.05457739
48CAMK11.02553769
49STK111.02296200
50RET0.96151942
51ALK0.95703482
52LMTK20.92176583
53PHKG10.89897579
54PHKG20.89897579
55CDK150.88871127
56CDC42BPA0.88691901
57CDK180.88320082
58CAMK1G0.87962754
59OXSR10.84992438
60CAMK2A0.81803319
61CDK140.81322776
62TNK20.78812154
63PKN10.78429684
64CDK11A0.76828639
65LIMK10.75920077
66SGK10.75905208
67PLK20.75022646
68NEK60.73661787
69CAMK2B0.71296786
70MARK20.71217688
71CASK0.71037506
72PDK10.70966378
73PDPK10.70544400
74MAP3K110.70174071
75CAMK40.69517177
76NEK10.64030490
77BMPR20.62868193
78RAF10.62727243
79CAMK2G0.61410113
80MAP3K10.60633511
81RPS6KA30.59348452
82DYRK1A0.59116924
83MAP2K60.53747664
84CAMK2D0.52975840
85FYN0.52049913
86MAPK100.51308003
87PTK2B0.51260573
88LATS20.47489263
89PAK30.46835985
90PRKCZ0.45555324
91BRAF0.45535129
92MAPKAPK50.44415844
93ROCK20.43228426
94CCNB10.42887210
95SCYL20.40420900
96CSNK1G20.38447904
97PRKG20.38241229
98PRKCE0.38216702
99PRKCB0.37227645
100BRSK10.35775473
101ROCK10.33873167
102MAP2K10.33633144
103DAPK30.33526653
104PRKG10.33409845
105MAP3K70.33160742
106FGFR20.32533871
107PRKACA0.32531559
108MAPK80.32334124
109PRKCA0.31851181
110CSNK1A10.29793332
111PRKAA10.25782646
112TESK10.25280869
113ERBB20.24869060
114INSRR0.24212553

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.79137614
2Synaptic vesicle cycle_Homo sapiens_hsa047213.08672242
3Glutamatergic synapse_Homo sapiens_hsa047242.77051225
4GABAergic synapse_Homo sapiens_hsa047272.74200826
5Circadian entrainment_Homo sapiens_hsa047132.72216549
6Long-term potentiation_Homo sapiens_hsa047202.70426354
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.66788463
8Olfactory transduction_Homo sapiens_hsa047402.64050187
9Morphine addiction_Homo sapiens_hsa050322.53979974
10Amphetamine addiction_Homo sapiens_hsa050312.35804000
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.26875599
12Salivary secretion_Homo sapiens_hsa049702.26816606
13Dopaminergic synapse_Homo sapiens_hsa047282.08798505
14Insulin secretion_Homo sapiens_hsa049111.97273991
15Long-term depression_Homo sapiens_hsa047301.96821515
16Gastric acid secretion_Homo sapiens_hsa049711.95439451
17Taste transduction_Homo sapiens_hsa047421.91144157
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89067064
19Cholinergic synapse_Homo sapiens_hsa047251.87337319
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.85658237
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72069159
22Cocaine addiction_Homo sapiens_hsa050301.66206924
23Oxytocin signaling pathway_Homo sapiens_hsa049211.61472944
24Calcium signaling pathway_Homo sapiens_hsa040201.60634949
25Renin secretion_Homo sapiens_hsa049241.59051210
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.55378557
27Nitrogen metabolism_Homo sapiens_hsa009101.53855318
28Serotonergic synapse_Homo sapiens_hsa047261.48240660
29GnRH signaling pathway_Homo sapiens_hsa049121.45161426
30Type II diabetes mellitus_Homo sapiens_hsa049301.38645981
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.37447243
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34639968
33cAMP signaling pathway_Homo sapiens_hsa040241.34414924
34Vitamin B6 metabolism_Homo sapiens_hsa007501.33891507
35Gap junction_Homo sapiens_hsa045401.32968429
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.31193421
37Estrogen signaling pathway_Homo sapiens_hsa049151.15329655
38Pancreatic secretion_Homo sapiens_hsa049721.11397175
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01758311
40Cardiac muscle contraction_Homo sapiens_hsa042601.00899318
41Phospholipase D signaling pathway_Homo sapiens_hsa040720.98560012
42Thyroid hormone synthesis_Homo sapiens_hsa049180.98197763
43Collecting duct acid secretion_Homo sapiens_hsa049660.96442553
44Glioma_Homo sapiens_hsa052140.95397699
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92744703
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.90669978
47Melanogenesis_Homo sapiens_hsa049160.89901875
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89620549
49Dorso-ventral axis formation_Homo sapiens_hsa043200.88432124
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.88020124
51ErbB signaling pathway_Homo sapiens_hsa040120.87496059
52Carbohydrate digestion and absorption_Homo sapiens_hsa049730.83462224
53Oocyte meiosis_Homo sapiens_hsa041140.83307098
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.82464544
55Axon guidance_Homo sapiens_hsa043600.80392479
56Bile secretion_Homo sapiens_hsa049760.78896612
57Dilated cardiomyopathy_Homo sapiens_hsa054140.75438260
58Choline metabolism in cancer_Homo sapiens_hsa052310.74429887
59MAPK signaling pathway_Homo sapiens_hsa040100.69282637
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69167663
61Arginine and proline metabolism_Homo sapiens_hsa003300.68407457
62Inositol phosphate metabolism_Homo sapiens_hsa005620.67528035
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.63314930
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.63259900
65VEGF signaling pathway_Homo sapiens_hsa043700.57240697
66mTOR signaling pathway_Homo sapiens_hsa041500.56634198
67Rap1 signaling pathway_Homo sapiens_hsa040150.56606607
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55524857
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55204092
70Circadian rhythm_Homo sapiens_hsa047100.54247292
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54148321
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52430727
73Vibrio cholerae infection_Homo sapiens_hsa051100.50998818
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.49886709
75Phototransduction_Homo sapiens_hsa047440.49748030
76Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49508292
77Glucagon signaling pathway_Homo sapiens_hsa049220.47584249
78Alcoholism_Homo sapiens_hsa050340.46506831
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45493729
80Ras signaling pathway_Homo sapiens_hsa040140.44917661
81Endocytosis_Homo sapiens_hsa041440.44794448
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43574340
83Non-small cell lung cancer_Homo sapiens_hsa052230.43296262
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41789452
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41765417
862-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.41365543
87Alzheimers disease_Homo sapiens_hsa050100.39626272
88Ovarian steroidogenesis_Homo sapiens_hsa049130.39538278
89Type I diabetes mellitus_Homo sapiens_hsa049400.39296224
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39253269
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38742297
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.38526839
93Histidine metabolism_Homo sapiens_hsa003400.37079965
94Chemokine signaling pathway_Homo sapiens_hsa040620.36796476
95Mineral absorption_Homo sapiens_hsa049780.35267809
96Insulin signaling pathway_Homo sapiens_hsa049100.34835580
97Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.34578663
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34182529
99Endometrial cancer_Homo sapiens_hsa052130.34177015
100Arginine biosynthesis_Homo sapiens_hsa002200.32109411
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31680607
102AMPK signaling pathway_Homo sapiens_hsa041520.31555046
103Fatty acid biosynthesis_Homo sapiens_hsa000610.29642969
104Renal cell carcinoma_Homo sapiens_hsa052110.29257677
105Platelet activation_Homo sapiens_hsa046110.28286973
106beta-Alanine metabolism_Homo sapiens_hsa004100.27925289
107African trypanosomiasis_Homo sapiens_hsa051430.27470705
108Prion diseases_Homo sapiens_hsa050200.25372283
109Wnt signaling pathway_Homo sapiens_hsa043100.25282273
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23762042
111Tight junction_Homo sapiens_hsa045300.20177243
112HIF-1 signaling pathway_Homo sapiens_hsa040660.19224863
113Regulation of autophagy_Homo sapiens_hsa041400.18201504

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