KCNH3

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: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1thyroid hormone generation (GO:0006590)8.66388390
2thyroid hormone metabolic process (GO:0042403)7.16284403
3synaptic vesicle maturation (GO:0016188)6.36894943
4regulation of short-term neuronal synaptic plasticity (GO:0048172)6.23689434
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.01629585
6locomotory exploration behavior (GO:0035641)5.94048049
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.68173567
8vocalization behavior (GO:0071625)5.44684919
9glutamate secretion (GO:0014047)5.32405351
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.31285803
11synaptic vesicle exocytosis (GO:0016079)5.28487164
12L-amino acid import (GO:0043092)5.26266094
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.22972357
14regulation of glutamate receptor signaling pathway (GO:1900449)5.06632282
15regulation of synapse structural plasticity (GO:0051823)4.91380979
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.88532863
17regulation of neuronal synaptic plasticity (GO:0048168)4.86375460
18regulation of synaptic vesicle exocytosis (GO:2000300)4.85472187
19cerebellar granule cell differentiation (GO:0021707)4.74316262
20amino acid import (GO:0043090)4.63941130
21protein localization to synapse (GO:0035418)4.52761783
22regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.50215527
23exploration behavior (GO:0035640)4.36010843
24dendritic spine morphogenesis (GO:0060997)4.35070517
25regulation of synaptic vesicle transport (GO:1902803)4.34363713
26ionotropic glutamate receptor signaling pathway (GO:0035235)4.31911188
27layer formation in cerebral cortex (GO:0021819)4.31105769
28neurotransmitter secretion (GO:0007269)4.21395792
29neurotransmitter-gated ion channel clustering (GO:0072578)4.17684684
30regulation of dendritic spine morphogenesis (GO:0061001)4.15978015
31cellular potassium ion homeostasis (GO:0030007)4.15818500
32negative regulation of dendrite morphogenesis (GO:0050774)4.12049714
33neuronal action potential propagation (GO:0019227)4.10603580
34sodium ion export (GO:0071436)3.99147577
35synaptic transmission, glutamatergic (GO:0035249)3.97365368
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.95551849
37positive regulation of membrane potential (GO:0045838)3.93945066
38negative regulation of synaptic transmission, GABAergic (GO:0032229)3.92094466
39response to parathyroid hormone (GO:0071107)3.92061496
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.90844774
41G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.88903004
42central nervous system myelination (GO:0022010)3.87878153
43axon ensheathment in central nervous system (GO:0032291)3.87878153
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.87275536
45potassium ion homeostasis (GO:0055075)3.86041613
46long-term memory (GO:0007616)3.84401230
47positive regulation of neurotransmitter secretion (GO:0001956)3.82870501
48regulation of synaptic plasticity (GO:0048167)3.80595105
49neuromuscular process controlling balance (GO:0050885)3.74954845
50cerebellar Purkinje cell differentiation (GO:0021702)3.74624013
51positive regulation of neurotransmitter transport (GO:0051590)3.74470253
52neuron-neuron synaptic transmission (GO:0007270)3.71949367
53regulation of synapse maturation (GO:0090128)3.71681091
54glutamate receptor signaling pathway (GO:0007215)3.70847960
55cytoskeletal anchoring at plasma membrane (GO:0007016)3.70015390
56prepulse inhibition (GO:0060134)3.69226416
57activation of protein kinase A activity (GO:0034199)3.64001672
58potassium ion import (GO:0010107)3.63584469
59regulation of postsynaptic membrane potential (GO:0060078)3.61042165
60neuron cell-cell adhesion (GO:0007158)3.57377628
61auditory behavior (GO:0031223)3.53321030
62positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.51363318
63proline transport (GO:0015824)3.45756449
64dendritic spine organization (GO:0097061)3.40578647
65positive regulation of synapse maturation (GO:0090129)3.39154115
66regulation of dendritic spine development (GO:0060998)3.39132440
67regulation of synaptic transmission (GO:0050804)3.32725522
68cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.32663542
69vesicle docking involved in exocytosis (GO:0006904)3.32423485
70postsynaptic membrane organization (GO:0001941)3.32210434
71gamma-aminobutyric acid signaling pathway (GO:0007214)3.31630417
72long-term synaptic potentiation (GO:0060291)3.31556479
73positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.31081536
74regulation of voltage-gated calcium channel activity (GO:1901385)3.30999606
75gamma-aminobutyric acid transport (GO:0015812)3.29083657
76regulation of exocytosis (GO:0017157)3.27945718
77regulation of neurotransmitter secretion (GO:0046928)3.27504047
78response to auditory stimulus (GO:0010996)3.25042493
79negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.23909514
80neurotransmitter transport (GO:0006836)3.23496488
81positive regulation of synaptic transmission, GABAergic (GO:0032230)3.22510577
82regulation of female receptivity (GO:0045924)3.22459332
83regulation of synaptic transmission, glutamatergic (GO:0051966)3.22406080
84regulation of vesicle fusion (GO:0031338)3.21567031
85neuronal ion channel clustering (GO:0045161)3.20114345
86acidic amino acid transport (GO:0015800)3.19880550
87regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.18334168
88synaptic vesicle endocytosis (GO:0048488)3.17577202
89cellular sodium ion homeostasis (GO:0006883)3.17067658
90cell communication by electrical coupling (GO:0010644)3.16754334
91transmission of nerve impulse (GO:0019226)3.16643323
92positive regulation of dendritic spine development (GO:0060999)3.16549789
93neuromuscular process controlling posture (GO:0050884)3.15994925
94behavioral response to cocaine (GO:0048148)3.12919919
95membrane hyperpolarization (GO:0060081)3.12171129
96adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.11108586
97establishment of synaptic vesicle localization (GO:0097480)3.10124122
98synaptic vesicle transport (GO:0048489)3.10124122
99regulation of neurotransmitter levels (GO:0001505)3.10038937
100regulation of neurotransmitter transport (GO:0051588)3.09464593
101synapse assembly (GO:0007416)3.06491211
102cAMP metabolic process (GO:0046058)3.04135900
103membrane depolarization during action potential (GO:0086010)3.04016645
104* synaptic transmission (GO:0007268)3.02223120
105vesicle docking (GO:0048278)3.00193698
106glycine transport (GO:0015816)3.00170567
107positive regulation of dendrite development (GO:1900006)3.00138761
108dopamine receptor signaling pathway (GO:0007212)2.99953702
109thyroid gland development (GO:0030878)2.99953164
110neuromuscular synaptic transmission (GO:0007274)2.99744230
111positive regulation of dendritic spine morphogenesis (GO:0061003)2.99424369
112membrane depolarization (GO:0051899)2.99387069
113regulation of ARF protein signal transduction (GO:0032012)2.99044800
114striatum development (GO:0021756)2.98640361
115behavioral fear response (GO:0001662)2.97296623
116behavioral defense response (GO:0002209)2.97296623
117positive regulation of synaptic transmission (GO:0050806)2.97190135
118dicarboxylic acid transport (GO:0006835)2.97034639
119synaptic transmission, dopaminergic (GO:0001963)2.96567877
120signal release (GO:0023061)2.95414617
121vesicle transport along microtubule (GO:0047496)2.95020669
122neuron recognition (GO:0008038)2.94901302
123dendrite morphogenesis (GO:0048813)2.94333264
124chemosensory behavior (GO:0007635)2.94320753
125regulation of clathrin-mediated endocytosis (GO:2000369)2.93982139
126learning (GO:0007612)2.93867142
127regulation of dendrite morphogenesis (GO:0048814)2.93180456
128negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.92702493
129negative regulation of hormone metabolic process (GO:0032351)2.92682058
130negative regulation of hormone biosynthetic process (GO:0032353)2.92682058
131cell differentiation in hindbrain (GO:0021533)2.92642608
132neuromuscular process (GO:0050905)2.91679954
133positive regulation of vesicle fusion (GO:0031340)2.91024054
134acid secretion (GO:0046717)2.90594610

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.49580364
2RARB_27405468_Chip-Seq_BRAIN_Mouse3.36270519
3DROSHA_22980978_ChIP-Seq_HELA_Human3.02159822
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01166007
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99905147
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.91351895
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80092543
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80092543
9GBX2_23144817_ChIP-Seq_PC3_Human2.72677687
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.70352133
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68626615
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.67936739
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61422640
14CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.60656246
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59408678
16* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52157781
17* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.48404593
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.36384439
19* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34732157
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.30775072
21* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27471649
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.26590952
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.25564485
24* EZH2_27294783_Chip-Seq_ESCs_Mouse2.24796460
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.17639039
26ERG_21242973_ChIP-ChIP_JURKAT_Human2.05588252
27EED_16625203_ChIP-ChIP_MESCs_Mouse2.03149635
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78002131
29AR_21572438_ChIP-Seq_LNCaP_Human1.70023276
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.64652632
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.60833392
32KDM2B_26808549_Chip-Seq_K562_Human1.59146354
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.52681735
34* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.51600490
35ZFP281_18757296_ChIP-ChIP_E14_Mouse1.51526805
36* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.49556107
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.47413844
38* RING1B_27294783_Chip-Seq_ESCs_Mouse1.41287822
39* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.40167147
40WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.40088035
41* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.39145215
42P68_20966046_ChIP-Seq_HELA_Human1.37095022
43GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.36331721
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.36214049
45CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.33398279
46SRY_22984422_ChIP-ChIP_TESTIS_Rat1.32932376
47ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.31029250
48CTBP2_25329375_ChIP-Seq_LNCAP_Human1.25625948
49* RING1B_27294783_Chip-Seq_NPCs_Mouse1.22191405
50CREB1_26743006_Chip-Seq_LNCaP_Human1.21485997
51SMAD4_21799915_ChIP-Seq_A2780_Human1.21279451
52ZFP281_27345836_Chip-Seq_ESCs_Mouse1.19458128
53AR_19668381_ChIP-Seq_PC3_Human1.19351066
54P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18515361
55CTCF_27219007_Chip-Seq_Bcells_Human1.16238093
56THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15762000
57PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.14927295
58SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14810149
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.13497626
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13172934
61SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.12698914
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.12539873
63SOX2_21211035_ChIP-Seq_LN229_Gbm1.11805267
64PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.10987191
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09809310
66* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.08728094
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.08528359
68TET1_21490601_ChIP-Seq_MESCs_Mouse1.07847200
69RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.06749526
70* KDM2B_26808549_Chip-Seq_JURKAT_Human1.05025158
71SMAD3_21741376_ChIP-Seq_HESCs_Human1.02443911
72ESR2_21235772_ChIP-Seq_MCF-7_Human1.00999218
73* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.00514290
74TET1_21451524_ChIP-Seq_MESCs_Mouse1.00236607
75* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99440410
76DPY_21335234_ChIP-Seq_ESCs_Mouse0.99006238
77TCF7_22412390_ChIP-Seq_EML_Mouse0.98945561
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.98850735
79SA1_27219007_Chip-Seq_ERYTHROID_Human0.98466036
80GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98387557
81DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98133994
82CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97421895
83TP53_16413492_ChIP-PET_HCT116_Human0.97287617
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97217100
85TAF15_26573619_Chip-Seq_HEK293_Human0.96958978
86SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96855259
87GATA1_26923725_Chip-Seq_HPCs_Mouse0.96289134
88NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95841637
89SMAD3_21741376_ChIP-Seq_EPCs_Human0.94287332
90STAT3_23295773_ChIP-Seq_U87_Human0.93596052
91SMAD3_21741376_ChIP-Seq_ESCs_Human0.93440148
92KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.93128423
93AHR_22903824_ChIP-Seq_MCF-7_Human0.92974457
94TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.92712570
95LXR_22292898_ChIP-Seq_THP-1_Human0.92579024
96SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92117466
97ARNT_22903824_ChIP-Seq_MCF-7_Human0.91930190
98SMAD_19615063_ChIP-ChIP_OVARY_Human0.91796753
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91764216
100VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91630722
101* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91094509
102SA1_27219007_Chip-Seq_Bcells_Human0.90845294
103CTCF_27219007_Chip-Seq_ERYTHROID_Human0.90508994
104KLF4_19829295_ChIP-Seq_ESCs_Human0.90444081
105RXR_22108803_ChIP-Seq_LS180_Human0.90386985
106CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88748360
107AR_25329375_ChIP-Seq_VCAP_Human0.88278156
108ESR1_20079471_ChIP-ChIP_T-47D_Human0.87561888
109MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.87309444
110PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.87251581
111* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.86395051
112* SMAD4_21741376_ChIP-Seq_HESCs_Human0.85770866
113RACK7_27058665_Chip-Seq_MCF-7_Human0.84429154
114ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84340593
115ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.84240216
116SMC4_20622854_ChIP-Seq_HELA_Human0.84128150
117OCT4_19829295_ChIP-Seq_ESCs_Human0.83822791
118GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.81871484
119PRDM14_20953172_ChIP-Seq_ESCs_Human0.81165562
120ELF1_20517297_ChIP-Seq_JURKAT_Human0.80659241
121FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.80192672
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80144236
123TCF4_23295773_ChIP-Seq_U87_Human0.79749068
124TP53_23651856_ChIP-Seq_MEFs_Mouse0.79595633
125EGR1_19032775_ChIP-ChIP_M12_Human0.79444099
126CTCF_20526341_ChIP-Seq_ESCs_Human0.79160002
127EP300_21415370_ChIP-Seq_HL-1_Mouse0.78763543
128GATA1_19941827_ChIP-Seq_MEL_Mouse0.78751894
129KDM2B_26808549_Chip-Seq_DND41_Human0.78101847
130TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.77466940
131SMAD4_21741376_ChIP-Seq_ESCs_Human0.77412894
132MYC_19915707_ChIP-ChIP_AK7_Human0.76706187
133MYC_27129775_Chip-Seq_CORNEA_Mouse0.75510862
134SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.74222612

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.55699099
2MP0002822_catalepsy4.74228342
3* MP0003635_abnormal_synaptic_transmissio4.28985158
4MP0003880_abnormal_central_pattern4.24921393
5MP0004270_analgesia3.84484050
6* MP0002063_abnormal_learning/memory/cond3.54577445
7* MP0009745_abnormal_behavioral_response3.42256993
8* MP0002064_seizures2.98821741
9MP0002572_abnormal_emotion/affect_behav2.79848553
10MP0001968_abnormal_touch/_nociception2.62645844
11MP0001486_abnormal_startle_reflex2.55879347
12MP0009046_muscle_twitch2.49838703
13MP0000681_abnormal_thyroid_gland2.49328491
14MP0002734_abnormal_mechanical_nocicepti2.45757097
15* MP0002272_abnormal_nervous_system2.35623408
16MP0005423_abnormal_somatic_nervous2.33199459
17MP0009780_abnormal_chondrocyte_physiolo2.33185178
18MP0001501_abnormal_sleep_pattern2.27804310
19MP0003879_abnormal_hair_cell2.11206672
20MP0001440_abnormal_grooming_behavior1.92937032
21MP0002736_abnormal_nociception_after1.92462273
22MP0002909_abnormal_adrenal_gland1.87929742
23MP0004858_abnormal_nervous_system1.87428510
24MP0008569_lethality_at_weaning1.84758125
25MP0001984_abnormal_olfaction1.83768557
26MP0004811_abnormal_neuron_physiology1.81974219
27MP0003329_amyloid_beta_deposits1.80384665
28MP0002735_abnormal_chemical_nociception1.79864342
29MP0001970_abnormal_pain_threshold1.78493911
30MP0000678_abnormal_parathyroid_gland1.77493619
31MP0002733_abnormal_thermal_nociception1.72330770
32MP0002557_abnormal_social/conspecific_i1.70494417
33MP0003075_altered_response_to1.68361408
34MP0004043_abnormal_pH_regulation1.61946793
35MP0010234_abnormal_vibrissa_follicle1.60806750
36MP0005386_behavior/neurological_phenoty1.57184284
37MP0004924_abnormal_behavior1.57184284
38MP0002067_abnormal_sensory_capabilities1.54441157
39MP0004885_abnormal_endolymph1.53321945
40MP0005646_abnormal_pituitary_gland1.51170278
41MP0002184_abnormal_innervation1.49779227
42MP0000955_abnormal_spinal_cord1.36018725
43MP0003633_abnormal_nervous_system1.32362337
44MP0010678_abnormal_skin_adnexa1.31905884
45MP0000778_abnormal_nervous_system1.31683552
46MP0002066_abnormal_motor_capabilities/c1.31036612
47MP0002882_abnormal_neuron_morphology1.27296422
48MP0003123_paternal_imprinting1.18971386
49MP0008872_abnormal_physiological_respon1.13787746
50MP0002876_abnormal_thyroid_physiology1.12202746
51MP0008961_abnormal_basal_metabolism1.12174415
52MP0001529_abnormal_vocalization1.10899855
53MP0001346_abnormal_lacrimal_gland1.09404448
54MP0001502_abnormal_circadian_rhythm1.08467913
55MP0008874_decreased_physiological_sensi1.07971807
56MP0003787_abnormal_imprinting1.06714653
57MP0000383_abnormal_hair_follicle1.05117649
58MP0003631_nervous_system_phenotype1.04668959
59MP0001177_atelectasis1.03061010
60MP0005645_abnormal_hypothalamus_physiol1.00721552
61MP0001905_abnormal_dopamine_level1.00102274
62MP0002152_abnormal_brain_morphology1.00006886
63MP0001986_abnormal_taste_sensitivity0.98906267
64MP0005167_abnormal_blood-brain_barrier0.93849910
65MP0003172_abnormal_lysosome_physiology0.91344832
66MP0001348_abnormal_lacrimal_gland0.91086091
67MP0003283_abnormal_digestive_organ0.91082810
68MP0002069_abnormal_eating/drinking_beha0.90234563
69MP0003183_abnormal_peptide_metabolism0.89579977
70MP0000920_abnormal_myelination0.88306559
71MP0005499_abnormal_olfactory_system0.84817082
72MP0005394_taste/olfaction_phenotype0.84817082
73MP0005535_abnormal_body_temperature0.82079403
74MP0000751_myopathy0.77138248
75MP0004510_myositis0.75542817
76MP0000604_amyloidosis0.75463809
77MP0002234_abnormal_pharynx_morphology0.75388283
78MP0003122_maternal_imprinting0.74287949
79MP0004085_abnormal_heartbeat0.74027444
80MP0002229_neurodegeneration0.73431365
81MP0005166_decreased_susceptibility_to0.72664419
82MP0003690_abnormal_glial_cell0.72309340
83MP0005409_darkened_coat_color0.71079210
84MP0000013_abnormal_adipose_tissue0.69632182
85MP0010386_abnormal_urinary_bladder0.69013660
86MP0003634_abnormal_glial_cell0.68247994
87MP0001963_abnormal_hearing_physiology0.65893542
88MP0001188_hyperpigmentation0.65571750
89MP0000631_abnormal_neuroendocrine_gland0.64684914
90MP0002090_abnormal_vision0.63566223
91MP0001485_abnormal_pinna_reflex0.63387850
92MP0000569_abnormal_digit_pigmentation0.63362992
93MP0002638_abnormal_pupillary_reflex0.63166644
94MP0004142_abnormal_muscle_tone0.62301630
95MP0004484_altered_response_of0.61916906
96MP0001664_abnormal_digestion0.61666907
97MP0006276_abnormal_autonomic_nervous0.60353520
98MP0003632_abnormal_nervous_system0.59436742
99MP0003045_fibrosis0.58516677
100MP0005551_abnormal_eye_electrophysiolog0.56802895
101MP0004742_abnormal_vestibular_system0.56329598
102MP0005623_abnormal_meninges_morphology0.53855733
103MP0001765_abnormal_ion_homeostasis0.52622538
104MP0005187_abnormal_penis_morphology0.51094276
105MP0002249_abnormal_larynx_morphology0.50859953
106MP0002752_abnormal_somatic_nervous0.50594782
107MP0003137_abnormal_impulse_conducting0.50121942
108MP0010769_abnormal_survival0.49183256
109MP0002653_abnormal_ependyma_morphology0.48985922
110MP0002873_normal_phenotype0.48290681
111MP0005388_respiratory_system_phenotype0.48167537
112MP0002133_abnormal_respiratory_system0.48167537
113MP0001943_abnormal_respiration0.48164471
114MP0003956_abnormal_body_size0.48097543
115MP0005310_abnormal_salivary_gland0.48045536
116MP0008260_abnormal_autophagy0.47124254
117MP0002169_no_abnormal_phenotype0.46779653
118MP0004130_abnormal_muscle_cell0.46523979
119MP0010768_mortality/aging0.45902537
120MP0003303_peritoneal_inflammation0.45143893
121MP0002082_postnatal_lethality0.43131693
122MP0010770_preweaning_lethality0.43131693
123MP0000026_abnormal_inner_ear0.42842126
124MP0002089_abnormal_postnatal_growth/wei0.42227752

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.07198646
2Focal motor seizures (HP:0011153)7.24864460
3Focal seizures (HP:0007359)5.45942742
4Goiter (HP:0000853)5.09985346
5Visual hallucinations (HP:0002367)4.96355077
6Pili torti (HP:0003777)4.35488991
7Epileptic encephalopathy (HP:0200134)4.26224254
8Atonic seizures (HP:0010819)3.87117398
9Febrile seizures (HP:0002373)3.77643763
10Action tremor (HP:0002345)3.67341723
11Ankle clonus (HP:0011448)3.61947779
12Tetraplegia (HP:0002445)3.57333379
13Absence seizures (HP:0002121)3.56646171
14Generalized tonic-clonic seizures (HP:0002069)3.51860659
15Delusions (HP:0000746)3.46570836
16Impaired vibration sensation in the lower limbs (HP:0002166)3.45975328
17Poor eye contact (HP:0000817)3.45505662
18Torticollis (HP:0000473)3.42603682
19Broad-based gait (HP:0002136)3.38282059
20Anxiety (HP:0000739)3.37300072
21Annular pancreas (HP:0001734)3.35504343
22Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)3.34699472
23Dialeptic seizures (HP:0011146)3.23315011
24Abnormality of the lower motor neuron (HP:0002366)3.19164767
25Supranuclear gaze palsy (HP:0000605)3.18346120
26Depression (HP:0000716)3.17739092
27Papilledema (HP:0001085)3.15149353
28Thyroid-stimulating hormone excess (HP:0002925)3.12899304
29Cerebral hypomyelination (HP:0006808)3.12241668
30Focal dystonia (HP:0004373)3.11170258
31Impaired social interactions (HP:0000735)3.11161796
32Abnormal social behavior (HP:0012433)3.11161796
33Urinary urgency (HP:0000012)3.02173238
34Urinary bladder sphincter dysfunction (HP:0002839)3.00637276
35Progressive cerebellar ataxia (HP:0002073)2.98089017
36Amblyopia (HP:0000646)2.95224262
37Dysmetria (HP:0001310)2.89990368
38Akinesia (HP:0002304)2.89491919
39Obstructive sleep apnea (HP:0002870)2.87514092
40Craniofacial dystonia (HP:0012179)2.86041154
41Gaze-evoked nystagmus (HP:0000640)2.84191173
42Hyperphosphatemia (HP:0002905)2.80453591
43Dysdiadochokinesis (HP:0002075)2.80255849
44Megalencephaly (HP:0001355)2.75485598
45Limb dystonia (HP:0002451)2.75235450
46Postural instability (HP:0002172)2.74792206
47Stereotypic behavior (HP:0000733)2.68800568
48Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.66659053
49Peripheral hypomyelination (HP:0007182)2.59084648
50Ventricular fibrillation (HP:0001663)2.52728414
51Rigidity (HP:0002063)2.51349018
52Cerebral inclusion bodies (HP:0100314)2.51147337
53Diminished motivation (HP:0000745)2.50068288
54Tetany (HP:0001281)2.49652423
55Pointed chin (HP:0000307)2.49458490
56Lower limb asymmetry (HP:0100559)2.48684836
57Mutism (HP:0002300)2.48523557
58Impaired smooth pursuit (HP:0007772)2.46416520
59Abnormal respiratory epithelium morphology (HP:0012253)2.46129363
60Abnormal respiratory motile cilium morphology (HP:0005938)2.46129363
61Dynein arm defect of respiratory motile cilia (HP:0012255)2.46081610
62Absent/shortened dynein arms (HP:0200106)2.46081610
63Spastic gait (HP:0002064)2.45389226
64Neurofibrillary tangles (HP:0002185)2.44994190
65Abnormal eating behavior (HP:0100738)2.42591441
66Bundle branch block (HP:0011710)2.40399631
67Ankyloglossia (HP:0010296)2.38880088
68Fetal akinesia sequence (HP:0001989)2.38759776
69Hyperventilation (HP:0002883)2.38410567
70Impaired vibratory sensation (HP:0002495)2.38308870
71Intention tremor (HP:0002080)2.37628197
72Excessive salivation (HP:0003781)2.36602115
73Drooling (HP:0002307)2.36602115
74Resting tremor (HP:0002322)2.36109066
75Truncal ataxia (HP:0002078)2.34705588
76Abnormal hair laboratory examination (HP:0003328)2.34430198
77Abnormal respiratory motile cilium physiology (HP:0012261)2.32864145
78Clonus (HP:0002169)2.32311826
79Hemiplegia (HP:0002301)2.31692240
80Abnormal ciliary motility (HP:0012262)2.31204438
81Bradykinesia (HP:0002067)2.26022713
82Genetic anticipation (HP:0003743)2.20568078
83Lower limb amyotrophy (HP:0007210)2.16749754
84Spinal canal stenosis (HP:0003416)2.16419343
85Abnormality of the corticospinal tract (HP:0002492)2.16144390
86Spastic tetraparesis (HP:0001285)2.15849904
87Hypothyroidism (HP:0000821)2.14132224
88Lower limb muscle weakness (HP:0007340)2.13298873
89Thyroid carcinoma (HP:0002890)2.13008349
90Dysmetric saccades (HP:0000641)2.12485929
91Inability to walk (HP:0002540)2.10868208
92Abnormality of saccadic eye movements (HP:0000570)2.08544875
93Status epilepticus (HP:0002133)2.08108945
94Memory impairment (HP:0002354)2.07535949
95Insomnia (HP:0100785)2.05412719
96Abnormality of ocular smooth pursuit (HP:0000617)2.04619994
97Rhinitis (HP:0012384)2.04189107
98Slow saccadic eye movements (HP:0000514)2.04113573
99Choreoathetosis (HP:0001266)2.03250567
100Hand muscle atrophy (HP:0009130)2.02328910
101Hemiparesis (HP:0001269)1.99666484
102Scanning speech (HP:0002168)1.99433052
103Epileptiform EEG discharges (HP:0011182)1.97373305
104Dementia (HP:0000726)1.95772752
105Achilles tendon contracture (HP:0001771)1.93246875
106Incomplete penetrance (HP:0003829)1.93091881
107Distal upper limb amyotrophy (HP:0007149)1.92784984
108Upper limb amyotrophy (HP:0009129)1.92784984
109Abnormality of binocular vision (HP:0011514)1.91612727
110Diplopia (HP:0000651)1.91612727
111Abnormal EKG (HP:0003115)1.91114482
112EEG with generalized epileptiform discharges (HP:0011198)1.91017575
113Nasal polyposis (HP:0100582)1.90741029
114Abnormality of the periventricular white matter (HP:0002518)1.90386897
115Insidious onset (HP:0003587)1.88421257
116Termporal pattern (HP:0011008)1.88421257
117Rapidly progressive (HP:0003678)1.87349578
118Bronchomalacia (HP:0002780)1.86852305
119Hypsarrhythmia (HP:0002521)1.84674607
120Generalized myoclonic seizures (HP:0002123)1.83635408
121Polygenic inheritance (HP:0010982)1.83302027
122Progressive inability to walk (HP:0002505)1.83172383
123Apathy (HP:0000741)1.80653699
124Sleep apnea (HP:0010535)1.79455079
125CNS hypomyelination (HP:0003429)1.78217380
126Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.77889155
127Degeneration of the lateral corticospinal tracts (HP:0002314)1.77889155
128Delayed CNS myelination (HP:0002188)1.73669062
129Neuronal loss in central nervous system (HP:0002529)1.72526472

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA46.01999889
2MAP3K94.25640156
3NTRK33.93482285
4DAPK23.85996811
5KSR22.89612018
6PRKD32.83304477
7MINK12.35869959
8CAMKK12.27210275
9PAK62.24512182
10DAPK12.19673844
11MAP3K42.15347695
12MARK12.08499835
13RIPK42.04502020
14NTRK11.90855701
15ARAF1.79886579
16NTRK21.77005282
17KSR11.76459590
18TAOK11.65467687
19MAP3K131.62786783
20MAP2K71.62028210
21MAP3K21.60094290
22TYRO31.60040882
23CDK51.57455431
24STK381.48629846
25SIK21.39508781
26MAP2K41.38921649
27PRPF4B1.35449468
28GRK51.22735245
29RAF11.19942696
30MAP3K111.19439013
31FES1.16274145
32CAMKK21.12082570
33MAP3K121.10796152
34PLK21.09775582
35BMPR21.04678708
36PRKCG1.03968576
37MAPK121.00091236
38CDK190.97513489
39RET0.96658050
40CAMK10.95723536
41RIPK10.91274841
42PTK2B0.91011603
43UHMK10.88036199
44PINK10.87769030
45STK110.86711181
46NEK10.86531709
47ALK0.85405706
48TRIB30.84386484
49TNIK0.84295969
50CDK150.84037884
51CDK180.83408726
52PRKCH0.82170831
53DAPK30.79915118
54MARK20.79564507
55CDK140.78862007
56PDK10.78692304
57PHKG10.77744541
58PHKG20.77744541
59PDPK10.77736156
60MAPK130.77163482
61PAK30.76030662
62LATS20.76018513
63CAMK2A0.75301569
64MAPK150.73461817
65CDK11A0.72901059
66LMTK20.71856016
67MAP3K10.70049371
68SGK10.66167238
69CAMK2B0.62728607
70TESK10.62456949
71SGK4940.62333686
72SGK2230.62333686
73SGK30.60589712
74MAP2K10.59808677
75BRSK10.59753388
76PRKCZ0.55034742
77PKN10.53062058
78MAP3K70.52878661
79MAP2K60.50621688
80CAMK40.49285199
81DMPK0.49239934
82PRKG20.47555484
83TNK20.47247017
84PNCK0.46804204
85CSNK1G20.46417410
86RPS6KA30.46201657
87TAOK20.46159432
88SGK20.46013148
89FYN0.45328124
90ERBB30.44886168
91IRAK20.44838766
92FGFR20.43046449
93CCNB10.42897497
94MOS0.42088477
95DYRK1A0.41746091
96DDR20.41465630
97MAPK100.41383774
98FGR0.41358977
99PRKD20.40829525
100LIMK10.40299274
101NEK60.39966873
102BRAF0.38235947
103ROCK20.38196687
104CDC42BPA0.36573207
105AKT30.35446422
106JAK20.34926289
107CAMK1G0.34154163
108FER0.34128051
109SCYL20.33484094
110JAK10.32803852
111CASK0.32186275
112CAMK2G0.31755292
113MAP3K60.31172230
114PRKCA0.30872211
115OXSR10.28882665
116MAPK80.28119448
117ROCK10.27933047
118ERBB20.27147479
119CAMK1D0.23568893
120SRC0.23280180
121ICK0.22354560

Predicted pathways (KEGG)

RankGene SetZ-score
1Olfactory transduction_Homo sapiens_hsa047403.49245156
2Synaptic vesicle cycle_Homo sapiens_hsa047212.93847620
3Nicotine addiction_Homo sapiens_hsa050332.76983971
4Long-term potentiation_Homo sapiens_hsa047202.66295474
5Circadian entrainment_Homo sapiens_hsa047132.63611303
6Amphetamine addiction_Homo sapiens_hsa050312.53022222
7Glutamatergic synapse_Homo sapiens_hsa047242.44481829
8Morphine addiction_Homo sapiens_hsa050322.35332206
9GABAergic synapse_Homo sapiens_hsa047272.34740486
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.28927510
11Gastric acid secretion_Homo sapiens_hsa049712.24142989
12Salivary secretion_Homo sapiens_hsa049702.19216633
13Dopaminergic synapse_Homo sapiens_hsa047282.13392725
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10039810
15Thyroid hormone synthesis_Homo sapiens_hsa049181.97265157
16Cholinergic synapse_Homo sapiens_hsa047251.94997021
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93915339
18Insulin secretion_Homo sapiens_hsa049111.92313370
19Oxytocin signaling pathway_Homo sapiens_hsa049211.74751134
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.73288457
21Vitamin B6 metabolism_Homo sapiens_hsa007501.70835079
22Cocaine addiction_Homo sapiens_hsa050301.69912221
23Renin secretion_Homo sapiens_hsa049241.69710258
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.59406257
25GnRH signaling pathway_Homo sapiens_hsa049121.56169559
26Calcium signaling pathway_Homo sapiens_hsa040201.53600044
27Autoimmune thyroid disease_Homo sapiens_hsa053201.52966039
28Nitrogen metabolism_Homo sapiens_hsa009101.47550526
29Taste transduction_Homo sapiens_hsa047421.40329416
30Long-term depression_Homo sapiens_hsa047301.38700738
31Glioma_Homo sapiens_hsa052141.35564917
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33568708
33cAMP signaling pathway_Homo sapiens_hsa040241.32459811
34Serotonergic synapse_Homo sapiens_hsa047261.31810638
35Gap junction_Homo sapiens_hsa045401.31141145
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.30698665
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.24360109
38Estrogen signaling pathway_Homo sapiens_hsa049151.20033222
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18980581
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11017362
41Melanogenesis_Homo sapiens_hsa049161.10756476
42Type II diabetes mellitus_Homo sapiens_hsa049301.06962586
43Vascular smooth muscle contraction_Homo sapiens_hsa042701.03443766
44ErbB signaling pathway_Homo sapiens_hsa040120.99148513
45Collecting duct acid secretion_Homo sapiens_hsa049660.98194730
46Oocyte meiosis_Homo sapiens_hsa041140.97071997
47VEGF signaling pathway_Homo sapiens_hsa043700.95510906
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.89916667
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.89831781
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.88618310
51Axon guidance_Homo sapiens_hsa043600.86152051
52Dorso-ventral axis formation_Homo sapiens_hsa043200.84200905
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84187024
54Pancreatic secretion_Homo sapiens_hsa049720.82586128
55Thyroid hormone signaling pathway_Homo sapiens_hsa049190.78708649
56mTOR signaling pathway_Homo sapiens_hsa041500.76157172
57Neurotrophin signaling pathway_Homo sapiens_hsa047220.75900181
58Choline metabolism in cancer_Homo sapiens_hsa052310.75874529
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75077843
60Bile secretion_Homo sapiens_hsa049760.72033124
61Phototransduction_Homo sapiens_hsa047440.71298564
62Rap1 signaling pathway_Homo sapiens_hsa040150.69182051
63Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68976630
64Vibrio cholerae infection_Homo sapiens_hsa051100.68264719
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67908442
66Cardiac muscle contraction_Homo sapiens_hsa042600.67045103
67Dilated cardiomyopathy_Homo sapiens_hsa054140.64161219
68MAPK signaling pathway_Homo sapiens_hsa040100.62914746
69Non-small cell lung cancer_Homo sapiens_hsa052230.62838340
70Ras signaling pathway_Homo sapiens_hsa040140.61985682
71Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.60669012
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60310253
73Glucagon signaling pathway_Homo sapiens_hsa049220.59906773
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.59892450
75Endocytosis_Homo sapiens_hsa041440.55537766
76Alcoholism_Homo sapiens_hsa050340.53461289
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.53104414
78Endometrial cancer_Homo sapiens_hsa052130.52370078
79Histidine metabolism_Homo sapiens_hsa003400.51855436
80Renal cell carcinoma_Homo sapiens_hsa052110.50138991
81Inositol phosphate metabolism_Homo sapiens_hsa005620.47962782
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47607162
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46424934
84Prion diseases_Homo sapiens_hsa050200.46079264
85Insulin signaling pathway_Homo sapiens_hsa049100.44184965
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43444401
87Chemokine signaling pathway_Homo sapiens_hsa040620.42506593
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41793649
89Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41579466
90Circadian rhythm_Homo sapiens_hsa047100.39495537
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37624016
92Mineral absorption_Homo sapiens_hsa049780.37082672
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36832238
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35270554
95Wnt signaling pathway_Homo sapiens_hsa043100.33530610
96Type I diabetes mellitus_Homo sapiens_hsa049400.33051844
97Thyroid cancer_Homo sapiens_hsa052160.30837945
98Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30562471
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.30334391
100Tight junction_Homo sapiens_hsa045300.29804229
101Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29799488
102Ovarian steroidogenesis_Homo sapiens_hsa049130.28569981
103Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.28493138
104Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.28262726
105Platelet activation_Homo sapiens_hsa046110.27312031
106Arginine and proline metabolism_Homo sapiens_hsa003300.27081667
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26223565
108HIF-1 signaling pathway_Homo sapiens_hsa040660.25192964
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.23153673
110beta-Alanine metabolism_Homo sapiens_hsa004100.23022910
111Tuberculosis_Homo sapiens_hsa051520.22875777
112Arginine biosynthesis_Homo sapiens_hsa002200.22734089
113Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.22451716

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