KCNH1

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: Voltage-gated potassium (Kv) 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 member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.25391904
2locomotory exploration behavior (GO:0035641)5.78663289
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.67038242
4synaptic vesicle maturation (GO:0016188)5.56771825
5glutamate secretion (GO:0014047)5.54260752
6synaptic vesicle exocytosis (GO:0016079)5.50538808
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.43249036
8vocalization behavior (GO:0071625)5.40009857
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.38422291
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.19476721
11regulation of synaptic vesicle exocytosis (GO:2000300)5.10184498
12neuronal action potential propagation (GO:0019227)5.05589811
13regulation of glutamate receptor signaling pathway (GO:1900449)4.93622857
14L-amino acid import (GO:0043092)4.68969965
15protein localization to synapse (GO:0035418)4.63437504
16regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.62188661
17regulation of synaptic vesicle transport (GO:1902803)4.56238241
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.55238264
19neurotransmitter secretion (GO:0007269)4.44593173
20regulation of neuronal synaptic plasticity (GO:0048168)4.39911892
21synaptic transmission, glutamatergic (GO:0035249)4.39874805
22amino acid import (GO:0043090)4.35447894
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.34197386
24neuron cell-cell adhesion (GO:0007158)4.26206988
25neurotransmitter-gated ion channel clustering (GO:0072578)4.25122363
26exploration behavior (GO:0035640)4.25024776
27neuron-neuron synaptic transmission (GO:0007270)4.22021848
28glutamate receptor signaling pathway (GO:0007215)4.17747871
29long-term memory (GO:0007616)3.95161242
30negative regulation of dendrite morphogenesis (GO:0050774)3.94330233
31regulation of excitatory postsynaptic membrane potential (GO:0060079)3.94279604
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.90284651
33proline transport (GO:0015824)3.86060250
34neuronal ion channel clustering (GO:0045161)3.85565501
35positive regulation of membrane potential (GO:0045838)3.83943023
36regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.80001065
37regulation of synapse structural plasticity (GO:0051823)3.78348173
38regulation of postsynaptic membrane potential (GO:0060078)3.75028298
39gamma-aminobutyric acid transport (GO:0015812)3.74218479
40long-term synaptic potentiation (GO:0060291)3.72847427
41regulation of ARF protein signal transduction (GO:0032012)3.71946865
42potassium ion homeostasis (GO:0055075)3.70983205
43regulation of synaptic plasticity (GO:0048167)3.70293772
44positive regulation of synapse maturation (GO:0090129)3.67857775
45regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.66851611
46layer formation in cerebral cortex (GO:0021819)3.64898175
47activation of protein kinase A activity (GO:0034199)3.62298362
48cellular potassium ion homeostasis (GO:0030007)3.59443849
49dendritic spine morphogenesis (GO:0060997)3.57556222
50regulation of neurotransmitter secretion (GO:0046928)3.56161880
51cerebellar Purkinje cell differentiation (GO:0021702)3.56106127
52regulation of synaptic transmission, glutamatergic (GO:0051966)3.53188138
53gamma-aminobutyric acid signaling pathway (GO:0007214)3.52531526
54neurotransmitter transport (GO:0006836)3.51974278
55positive regulation of dendritic spine development (GO:0060999)3.46636984
56potassium ion import (GO:0010107)3.44921010
57regulation of dendritic spine morphogenesis (GO:0061001)3.39491115
58positive regulation of neurotransmitter secretion (GO:0001956)3.38668877
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.38023875
60G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.37724101
61cell communication by electrical coupling (GO:0010644)3.36629656
62regulation of vesicle fusion (GO:0031338)3.34527154
63serotonin metabolic process (GO:0042428)3.33887243
64regulation of synapse maturation (GO:0090128)3.33673151
65synaptic vesicle endocytosis (GO:0048488)3.32874710
66neuromuscular process controlling balance (GO:0050885)3.32468351
67regulation of neurotransmitter transport (GO:0051588)3.31491365
68central nervous system myelination (GO:0022010)3.30187283
69axon ensheathment in central nervous system (GO:0032291)3.30187283
70response to histamine (GO:0034776)3.29743111
71neuromuscular synaptic transmission (GO:0007274)3.28334905
72cellular sodium ion homeostasis (GO:0006883)3.27992464
73negative regulation of synaptic transmission, GABAergic (GO:0032229)3.27772965
74positive regulation of dendritic spine morphogenesis (GO:0061003)3.27662628
75postsynaptic membrane organization (GO:0001941)3.27649051
76membrane depolarization during action potential (GO:0086010)3.27014516
77presynaptic membrane assembly (GO:0097105)3.26601096
78cerebellar granule cell differentiation (GO:0021707)3.25606956
79positive regulation of neurotransmitter transport (GO:0051590)3.25408735
80regulation of neurotransmitter levels (GO:0001505)3.23783299
81membrane depolarization (GO:0051899)3.23535681
82neuromuscular process controlling posture (GO:0050884)3.22044877
83behavioral defense response (GO:0002209)3.21626420
84behavioral fear response (GO:0001662)3.21626420
85detection of calcium ion (GO:0005513)3.21434229
86cytoskeletal anchoring at plasma membrane (GO:0007016)3.20244709
87transmission of nerve impulse (GO:0019226)3.19658827
88auditory behavior (GO:0031223)3.17358491
89startle response (GO:0001964)3.16511448
90neuron recognition (GO:0008038)3.14008566
91G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.13860497
92fear response (GO:0042596)3.13687979
93sodium ion export (GO:0071436)3.13683507
94behavioral response to cocaine (GO:0048148)3.12925951
95positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.11786711
96positive regulation of synaptic transmission, GABAergic (GO:0032230)3.11285959
97vesicle docking involved in exocytosis (GO:0006904)3.09079548
98membrane hyperpolarization (GO:0060081)3.08588989
99positive regulation of synaptic transmission (GO:0050806)3.08346444
100presynaptic membrane organization (GO:0097090)3.07297963
101learning (GO:0007612)3.06772439
102cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.06506896
103positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.04778400
104negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.04275303
105innervation (GO:0060384)3.03525736
106prepulse inhibition (GO:0060134)3.02534099
107regulation of synaptic transmission (GO:0050804)3.02443778
108primary amino compound metabolic process (GO:1901160)3.02031671
109dendritic spine organization (GO:0097061)3.00590968
110glycine transport (GO:0015816)2.99950287
111* synaptic transmission (GO:0007268)2.99823033
112response to auditory stimulus (GO:0010996)2.99141880
113social behavior (GO:0035176)2.98224613
114intraspecies interaction between organisms (GO:0051703)2.98224613
115regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.97329487
116neurotransmitter uptake (GO:0001504)2.95974383
117long term synaptic depression (GO:0060292)2.95860079
118neuromuscular process (GO:0050905)2.95548725
119acidic amino acid transport (GO:0015800)2.95123942
120striatum development (GO:0021756)2.94505912
121chemosensory behavior (GO:0007635)2.94458832
122axonal fasciculation (GO:0007413)2.93794600
123regulation of voltage-gated calcium channel activity (GO:1901385)2.93586328
124synapse assembly (GO:0007416)2.92699039
125regulation of glutamate secretion (GO:0014048)2.91525828
126regulation of dendritic spine development (GO:0060998)2.90934206
127establishment of synaptic vesicle localization (GO:0097480)2.89975804
128synaptic vesicle transport (GO:0048489)2.89975804
129vesicle docking (GO:0048278)2.87193734

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.82551456
2* GBX2_23144817_ChIP-Seq_PC3_Human3.57994755
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05916804
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.98634332
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97564384
6REST_21632747_ChIP-Seq_MESCs_Mouse2.68284763
7* RARB_27405468_Chip-Seq_BRAIN_Mouse2.65802120
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.63954640
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.63954640
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55438563
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54301115
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45978802
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45007507
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37300982
15DROSHA_22980978_ChIP-Seq_HELA_Human2.36578130
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.35345999
17* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.35084180
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16777834
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.15151469
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.14760471
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09050932
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.07953799
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.94061710
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88535853
25IKZF1_21737484_ChIP-ChIP_HCT116_Human1.87915183
26TAF15_26573619_Chip-Seq_HEK293_Human1.87452467
27* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83894307
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.77672118
29* SMAD4_21799915_ChIP-Seq_A2780_Human1.77431208
30AR_21572438_ChIP-Seq_LNCaP_Human1.72901862
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.70349671
32* ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70127511
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69483514
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.65123620
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63145571
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.57383971
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.49238701
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44758160
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.42587215
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41936355
41* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39294118
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.38453694
43* P300_19829295_ChIP-Seq_ESCs_Human1.37932024
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.36746028
45PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.36568844
46CTNNB1_20460455_ChIP-Seq_HCT116_Human1.36054734
47* STAT3_23295773_ChIP-Seq_U87_Human1.34539126
48* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.34307956
49* SMAD3_21741376_ChIP-Seq_EPCs_Human1.33562982
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32584750
51AR_25329375_ChIP-Seq_VCAP_Human1.31511966
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.30630554
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.29289036
54ZNF217_24962896_ChIP-Seq_MCF-7_Human1.28313289
55AR_19668381_ChIP-Seq_PC3_Human1.25895794
56RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25788473
57BMI1_23680149_ChIP-Seq_NPCS_Mouse1.24177565
58AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21020042
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19210247
60ZNF274_21170338_ChIP-Seq_K562_Hela1.19135786
61PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18693524
62RING1B_27294783_Chip-Seq_ESCs_Mouse1.17416333
63* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16981105
64TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16014762
65* TCF4_23295773_ChIP-Seq_U87_Human1.15855936
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.15516615
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15442469
68OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15082911
69RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14789245
70TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14628414
71AHR_22903824_ChIP-Seq_MCF-7_Human1.12365578
72GATA1_26923725_Chip-Seq_HPCs_Mouse1.12340553
73* TET1_21490601_ChIP-Seq_MESCs_Mouse1.12198138
74* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.11178224
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.10696201
76POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10094655
77DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09194765
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09106397
79* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09047466
80CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08861657
81RNF2_27304074_Chip-Seq_NSC_Mouse1.08838205
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.06682575
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05630887
84TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04285624
85LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04242855
86FUS_26573619_Chip-Seq_HEK293_Human1.03690620
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.03588150
88TP53_16413492_ChIP-PET_HCT116_Human1.03210530
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.02658884
90SOX9_26525672_Chip-Seq_HEART_Mouse1.01818088
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.00615077
92RXR_22108803_ChIP-Seq_LS180_Human0.99840169
93KDM2B_26808549_Chip-Seq_K562_Human0.99183702
94* SMAD3_21741376_ChIP-Seq_ESCs_Human0.98511439
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.96963701
96IGF1R_20145208_ChIP-Seq_DFB_Human0.96838992
97* RUNX2_22187159_ChIP-Seq_PCA_Human0.96621130
98TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96141194
99ZFP281_27345836_Chip-Seq_ESCs_Mouse0.96023824
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95875641
101EP300_21415370_ChIP-Seq_HL-1_Mouse0.95859729
102EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.95106202
103TRIM28_21343339_ChIP-Seq_HEK293_Human0.94755426
104RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94753068
105CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94625218
106OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.93655707
107* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93621773
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.93411142
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.93303512
110* NANOG_18555785_Chip-Seq_ESCs_Mouse0.92799812
111* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92317902
112ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.91504913
113ESR2_21235772_ChIP-Seq_MCF-7_Human0.91346334
114CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90325830
115BCAT_22108803_ChIP-Seq_LS180_Human0.90245788
116UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90079761
117TP53_18474530_ChIP-ChIP_U2OS_Human0.90025589
118KDM2B_26808549_Chip-Seq_REH_Human0.89635301
119POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89414022
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89414022

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.70527351
2MP0003880_abnormal_central_pattern4.52130372
3MP0003635_abnormal_synaptic_transmissio4.17587636
4MP0004270_analgesia3.93541710
5MP0009745_abnormal_behavioral_response3.50801156
6MP0002063_abnormal_learning/memory/cond3.37758633
7MP0002822_catalepsy3.35366148
8MP0009046_muscle_twitch3.19245912
9MP0002064_seizures3.17813227
10MP0001968_abnormal_touch/_nociception3.15591487
11MP0002572_abnormal_emotion/affect_behav2.89844767
12MP0002734_abnormal_mechanical_nocicepti2.79681798
13MP0002272_abnormal_nervous_system2.64968273
14MP0001486_abnormal_startle_reflex2.48213130
15MP0002735_abnormal_chemical_nociception2.47892553
16MP0002736_abnormal_nociception_after2.45120362
17MP0001501_abnormal_sleep_pattern2.30543189
18MP0009780_abnormal_chondrocyte_physiolo2.28540765
19MP0005423_abnormal_somatic_nervous2.27754701
20MP0001440_abnormal_grooming_behavior2.10975749
21MP0001970_abnormal_pain_threshold2.02055602
22MP0002733_abnormal_thermal_nociception2.00244499
23MP0005646_abnormal_pituitary_gland1.99648084
24MP0002067_abnormal_sensory_capabilities1.98318315
25MP0003879_abnormal_hair_cell1.91851668
26MP0008569_lethality_at_weaning1.89334672
27MP0002909_abnormal_adrenal_gland1.86374027
28MP0002184_abnormal_innervation1.76447007
29MP0004924_abnormal_behavior1.75463071
30MP0005386_behavior/neurological_phenoty1.75463071
31MP0002557_abnormal_social/conspecific_i1.72962494
32MP0005623_abnormal_meninges_morphology1.71227825
33MP0003787_abnormal_imprinting1.69537341
34MP0004858_abnormal_nervous_system1.67487857
35MP0004811_abnormal_neuron_physiology1.65583893
36MP0003329_amyloid_beta_deposits1.61956297
37MP0001984_abnormal_olfaction1.53785911
38MP0000955_abnormal_spinal_cord1.48839563
39MP0000778_abnormal_nervous_system1.44893171
40MP0000920_abnormal_myelination1.44854044
41MP0005171_absent_coat_pigmentation1.40156743
42MP0001188_hyperpigmentation1.36773573
43MP0002066_abnormal_motor_capabilities/c1.35996054
44MP0001502_abnormal_circadian_rhythm1.34615325
45MP0002882_abnormal_neuron_morphology1.31180640
46MP0003633_abnormal_nervous_system1.30297049
47MP0006276_abnormal_autonomic_nervous1.29847937
48MP0003123_paternal_imprinting1.25595835
49MP0001348_abnormal_lacrimal_gland1.22783528
50MP0001529_abnormal_vocalization1.22287411
51MP0010386_abnormal_urinary_bladder1.19803252
52MP0004885_abnormal_endolymph1.18702483
53MP0001905_abnormal_dopamine_level1.18627557
54MP0001346_abnormal_lacrimal_gland1.15777712
55MP0005645_abnormal_hypothalamus_physiol1.10673423
56MP0003631_nervous_system_phenotype1.09469684
57MP0004147_increased_porphyrin_level1.07296430
58MP0004145_abnormal_muscle_electrophysio1.07229883
59MP0008872_abnormal_physiological_respon1.06233369
60MP0003283_abnormal_digestive_organ1.03573241
61MP0000013_abnormal_adipose_tissue1.03535369
62MP0008961_abnormal_basal_metabolism1.02577072
63MP0002152_abnormal_brain_morphology0.98474562
64MP0004142_abnormal_muscle_tone0.97758749
65MP0002069_abnormal_eating/drinking_beha0.92703634
66MP0008874_decreased_physiological_sensi0.89358209
67MP0005499_abnormal_olfactory_system0.88344697
68MP0005394_taste/olfaction_phenotype0.88344697
69MP0004043_abnormal_pH_regulation0.88046461
70MP0003122_maternal_imprinting0.88028835
71MP0002837_dystrophic_cardiac_calcinosis0.87964252
72MP0002229_neurodegeneration0.87877224
73MP0002876_abnormal_thyroid_physiology0.85613404
74MP0004085_abnormal_heartbeat0.85564157
75MP0003075_altered_response_to0.79988107
76MP0000631_abnormal_neuroendocrine_gland0.79066141
77MP0005535_abnormal_body_temperature0.78950101
78MP0000569_abnormal_digit_pigmentation0.78402419
79MP0001963_abnormal_hearing_physiology0.77772138
80MP0004742_abnormal_vestibular_system0.77302780
81MP0000751_myopathy0.75362715
82MP0003632_abnormal_nervous_system0.75143139
83MP0001177_atelectasis0.74735639
84MP0005551_abnormal_eye_electrophysiolog0.69854792
85MP0001485_abnormal_pinna_reflex0.69745137
86MP0004484_altered_response_of0.66207354
87MP0002653_abnormal_ependyma_morphology0.65614431
88MP0010234_abnormal_vibrissa_follicle0.63929921
89MP0002089_abnormal_postnatal_growth/wei0.63491022
90MP0002752_abnormal_somatic_nervous0.62356419
91MP0003861_abnormal_nervous_system0.60648969
92MP0004215_abnormal_myocardial_fiber0.60139349
93MP0002090_abnormal_vision0.59933599
94MP0001664_abnormal_digestion0.59557849
95MP0005409_darkened_coat_color0.59501271
96MP0008877_abnormal_DNA_methylation0.59494258
97MP0003634_abnormal_glial_cell0.59276609
98MP0002638_abnormal_pupillary_reflex0.58354085
99MP0000604_amyloidosis0.58042922
100MP0000579_abnormal_nail_morphology0.57348549
101MP0001986_abnormal_taste_sensitivity0.56441991
102MP0001943_abnormal_respiration0.56224049
103MP0000026_abnormal_inner_ear0.55013789
104MP0004510_myositis0.54928618
105MP0003136_yellow_coat_color0.53537296
106MP0001299_abnormal_eye_distance/0.53268896
107MP0004233_abnormal_muscle_weight0.52840900
108MP0010768_mortality/aging0.52193968
109MP0001765_abnormal_ion_homeostasis0.51854434
110MP0003690_abnormal_glial_cell0.51026537
111MP0003045_fibrosis0.50079658
112MP0003183_abnormal_peptide_metabolism0.49732703
113MP0000462_abnormal_digestive_system0.49647851
114MP0005174_abnormal_tail_pigmentation0.49647633
115MP0010769_abnormal_survival0.48464873
116MP0003172_abnormal_lysosome_physiology0.48399581
117MP0002751_abnormal_autonomic_nervous0.48269828
118MP0005187_abnormal_penis_morphology0.48251841
119MP0003956_abnormal_body_size0.48161435
120MP0002082_postnatal_lethality0.47789501
121MP0010770_preweaning_lethality0.47789501
122MP0003137_abnormal_impulse_conducting0.46454216
123MP0000534_abnormal_ureter_morphology0.45844936

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.47999395
2Myokymia (HP:0002411)7.04633181
3Focal seizures (HP:0007359)5.98072331
4Epileptic encephalopathy (HP:0200134)5.33440011
5Visual hallucinations (HP:0002367)5.25514450
6Atonic seizures (HP:0010819)5.25418841
7Febrile seizures (HP:0002373)5.01425036
8Absence seizures (HP:0002121)4.33978998
9Progressive cerebellar ataxia (HP:0002073)4.23097224
10Action tremor (HP:0002345)4.12159370
11Generalized tonic-clonic seizures (HP:0002069)4.05421081
12Dialeptic seizures (HP:0011146)3.95668514
13Gaze-evoked nystagmus (HP:0000640)3.84974716
14Broad-based gait (HP:0002136)3.83574843
15Neurofibrillary tangles (HP:0002185)3.67832236
16Hyperventilation (HP:0002883)3.52674514
17Poor eye contact (HP:0000817)3.52375421
18Impaired vibration sensation in the lower limbs (HP:0002166)3.38500836
19Dysdiadochokinesis (HP:0002075)3.21711191
20Amblyopia (HP:0000646)3.16903941
21Akinesia (HP:0002304)3.16313992
22Abnormal social behavior (HP:0012433)3.13261835
23Impaired social interactions (HP:0000735)3.13261835
24Urinary bladder sphincter dysfunction (HP:0002839)3.07035713
25Truncal ataxia (HP:0002078)3.05882065
26Impaired smooth pursuit (HP:0007772)3.00504148
27Depression (HP:0000716)2.98988928
28Dysmetria (HP:0001310)2.98941184
29Ankle clonus (HP:0011448)2.96499140
30Anxiety (HP:0000739)2.86534283
31Abnormal eating behavior (HP:0100738)2.78964629
32Scanning speech (HP:0002168)2.76740705
33Papilledema (HP:0001085)2.76702994
34Dysmetric saccades (HP:0000641)2.76542676
35Postural instability (HP:0002172)2.73018884
36Genetic anticipation (HP:0003743)2.70054287
37Supranuclear gaze palsy (HP:0000605)2.69132490
38Epileptiform EEG discharges (HP:0011182)2.68732380
39Tetraplegia (HP:0002445)2.68660958
40Annular pancreas (HP:0001734)2.62091220
41Drooling (HP:0002307)2.61105874
42Excessive salivation (HP:0003781)2.61105874
43Abnormality of the lower motor neuron (HP:0002366)2.59775656
44Torticollis (HP:0000473)2.54544895
45Abnormality of ocular smooth pursuit (HP:0000617)2.54216535
46Ventricular fibrillation (HP:0001663)2.53929796
47Stereotypic behavior (HP:0000733)2.52328582
48EEG with generalized epileptiform discharges (HP:0011198)2.52042481
49Cerebral hypomyelination (HP:0006808)2.51087483
50Termporal pattern (HP:0011008)2.46460629
51Insidious onset (HP:0003587)2.46460629
52Absent speech (HP:0001344)2.45292088
53Spastic gait (HP:0002064)2.43087719
54Urinary urgency (HP:0000012)2.43006629
55Hemiparesis (HP:0001269)2.39653901
56Progressive inability to walk (HP:0002505)2.39220762
57Impaired vibratory sensation (HP:0002495)2.37825751
58Hypsarrhythmia (HP:0002521)2.37339464
59Fetal akinesia sequence (HP:0001989)2.35707440
60Focal dystonia (HP:0004373)2.35434737
61Hemiplegia (HP:0002301)2.33869047
62Mutism (HP:0002300)2.31278045
63Intention tremor (HP:0002080)2.30189484
64Peripheral hypomyelination (HP:0007182)2.28333231
65Status epilepticus (HP:0002133)2.28191036
66Inability to walk (HP:0002540)2.24310104
67Bradykinesia (HP:0002067)2.23404979
68Apathy (HP:0000741)2.18219619
69Insomnia (HP:0100785)2.13359795
70Degeneration of the lateral corticospinal tracts (HP:0002314)2.11965778
71Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.11965778
72Resting tremor (HP:0002322)2.10514163
73Craniofacial dystonia (HP:0012179)2.07600134
74Abnormality of binocular vision (HP:0011514)2.06063720
75Diplopia (HP:0000651)2.06063720
76Heterochromia iridis (HP:0001100)2.03328453
77Abnormality of the corticospinal tract (HP:0002492)2.03011649
78Agitation (HP:0000713)2.01861035
79Generalized myoclonic seizures (HP:0002123)2.00344043
80Incomplete penetrance (HP:0003829)1.98739814
81Mild short stature (HP:0003502)1.98580808
82Diminished motivation (HP:0000745)1.97114409
83Gait ataxia (HP:0002066)1.96657114
84Obstructive sleep apnea (HP:0002870)1.95628505
85Megalencephaly (HP:0001355)1.95081558
86Aplasia involving bones of the extremities (HP:0009825)1.92852172
87Aplasia involving bones of the upper limbs (HP:0009823)1.92852172
88Aplasia of the phalanges of the hand (HP:0009802)1.92852172
89Bundle branch block (HP:0011710)1.92192998
90Lower limb muscle weakness (HP:0007340)1.91832164
91Blue irides (HP:0000635)1.91743168
92Pointed chin (HP:0000307)1.91432260
93Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.91158746
94Sleep apnea (HP:0010535)1.90298566
95Pheochromocytoma (HP:0002666)1.89692068
96Ocular albinism (HP:0001107)1.88983696
97Rapidly progressive (HP:0003678)1.84843796
98Lower limb asymmetry (HP:0100559)1.84749182
99Morphological abnormality of the pyramidal tract (HP:0002062)1.84665018
100Rigidity (HP:0002063)1.84071248
101Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.83391157
102Iris hypopigmentation (HP:0007730)1.81584275
103Diminished movement (HP:0002374)1.78671406
104Protruding tongue (HP:0010808)1.77539036
105Gait imbalance (HP:0002141)1.76695811
106Abnormality of salivation (HP:0100755)1.74421796
107Spinal canal stenosis (HP:0003416)1.73681399
108Abnormal EKG (HP:0003115)1.73479216
109Abnormality of saccadic eye movements (HP:0000570)1.73204431
110Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.73192131
111Clonus (HP:0002169)1.72400478
112CNS hypomyelination (HP:0003429)1.71739473
113Prolonged QT interval (HP:0001657)1.71534424
114Polyphagia (HP:0002591)1.71518711
115Cerebral inclusion bodies (HP:0100314)1.70758072
116Lower limb amyotrophy (HP:0007210)1.70221457
117Spastic tetraparesis (HP:0001285)1.68913956
118Limb dystonia (HP:0002451)1.67435859
119Specific learning disability (HP:0001328)1.66576463
120Hypoventilation (HP:0002791)1.65692787
121Intellectual disability, profound (HP:0002187)1.64132734
122Postural tremor (HP:0002174)1.63871038
123Neuronal loss in central nervous system (HP:0002529)1.63424578
124Deeply set eye (HP:0000490)1.63014018
125Delusions (HP:0000746)1.62766010
126Syncope (HP:0001279)1.62692162

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.76295427
2EPHA44.60608217
3MAP3K93.85899874
4DAPK23.09646762
5MAP3K42.90832072
6CASK2.58712616
7MAP2K72.53720937
8KSR22.40334319
9MINK12.27676397
10PAK62.24560903
11PRKD32.15041891
12CAMKK11.99381342
13NTRK21.91615634
14MAP3K121.87509696
15MAP2K41.85735600
16MARK11.84528755
17NTRK11.77643434
18RIPK41.77370431
19CAMKK21.76702803
20DAPK11.75301998
21MAP3K21.68486162
22KSR11.56380157
23ARAF1.51482059
24PLK21.45439301
25CDK191.45056049
26CDK51.44677300
27STK381.43309354
28GRK51.40044280
29TAOK11.37581978
30BMPR21.35122138
31MAP3K131.29623261
32LATS21.27673922
33PRPF4B1.25211058
34MAPK131.22269976
35TNIK1.19103355
36SGK2231.07830043
37SGK4941.07830043
38PRKCG1.07758561
39TYRO31.06454155
40CCNB11.04972250
41SGK21.04566402
42FES0.97104232
43RAF10.96860035
44CAMK2A0.95820323
45LIMK10.94287979
46RET0.94028230
47CAMK10.93526863
48PNCK0.92961648
49SIK20.92337768
50STK110.88752216
51PRKCH0.82280401
52MAP3K10.81086381
53PTK2B0.80143257
54UHMK10.79669007
55SGK30.79645206
56CDK180.79319394
57MAP3K60.77661509
58CDK150.76393850
59OXSR10.75224562
60TESK10.74977517
61AKT30.74857317
62SGK10.74851244
63CAMK2B0.72747028
64CDK140.70371712
65BRAF0.69505987
66PKN10.69349982
67CDK11A0.64755084
68MOS0.63598647
69PDGFRA0.63139246
70BRSK10.62830471
71MARK20.62775325
72PINK10.61946818
73PAK30.61305671
74PDK10.59710102
75PDPK10.59210941
76ROCK20.56872942
77MUSK0.55954114
78MAP2K10.55719967
79PTK20.53426927
80ALK0.52516189
81DYRK1A0.52221646
82CAMK40.51860476
83WNK10.51829264
84MAPK120.51653536
85CDC42BPA0.51087332
86CSNK1G20.49328880
87RPS6KA30.49039093
88MET0.48978634
89NEK60.48257872
90PRKCE0.47671447
91SIK30.45304227
92ROCK10.42819422
93CAMK1G0.42322096
94RIPK10.42227958
95FER0.41587266
96MAPK100.40789238
97PHKG20.40494374
98PHKG10.40494374
99LMTK20.40484483
100CAMK2G0.40233466
101SCYL20.39452053
102CAMK2D0.39123580
103FGFR20.38580581
104CSNK1D0.37412749
105DMPK0.37055727
106IRAK20.36191406
107NME10.35988783
108MAP3K70.34636229
109DAPK30.33679564
110PRKCA0.33250165
111PRKCZ0.31957999
112PAK20.31925016
113CSNK1A10.31292873
114RPS6KA20.31101774
115FYN0.30346121

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.53968097
2Synaptic vesicle cycle_Homo sapiens_hsa047213.36507841
3Long-term potentiation_Homo sapiens_hsa047202.80406623
4Olfactory transduction_Homo sapiens_hsa047402.72782583
5Circadian entrainment_Homo sapiens_hsa047132.71740468
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.64651626
7Amphetamine addiction_Homo sapiens_hsa050312.60788154
8Glutamatergic synapse_Homo sapiens_hsa047242.57746862
9GABAergic synapse_Homo sapiens_hsa047272.54366350
10Morphine addiction_Homo sapiens_hsa050322.44431428
11Insulin secretion_Homo sapiens_hsa049112.26208115
12Dopaminergic synapse_Homo sapiens_hsa047282.16848415
13Salivary secretion_Homo sapiens_hsa049702.15540635
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05069433
15Cholinergic synapse_Homo sapiens_hsa047251.95952247
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94364356
17Gastric acid secretion_Homo sapiens_hsa049711.87551680
18Long-term depression_Homo sapiens_hsa047301.83118526
19Taste transduction_Homo sapiens_hsa047421.80844416
20Cocaine addiction_Homo sapiens_hsa050301.75212568
21Oxytocin signaling pathway_Homo sapiens_hsa049211.70707750
22Renin secretion_Homo sapiens_hsa049241.67771814
23Serotonergic synapse_Homo sapiens_hsa047261.64714843
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63474486
25Collecting duct acid secretion_Homo sapiens_hsa049661.62555096
26Calcium signaling pathway_Homo sapiens_hsa040201.59725928
27GnRH signaling pathway_Homo sapiens_hsa049121.58778870
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37528983
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.36260525
30Gap junction_Homo sapiens_hsa045401.33601761
31cAMP signaling pathway_Homo sapiens_hsa040241.33285763
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.33199103
33Vitamin B6 metabolism_Homo sapiens_hsa007501.33185051
34Type II diabetes mellitus_Homo sapiens_hsa049301.31442713
35Estrogen signaling pathway_Homo sapiens_hsa049151.22573997
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22170452
37Glioma_Homo sapiens_hsa052141.11937017
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11352494
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.09168686
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08132981
41Vibrio cholerae infection_Homo sapiens_hsa051101.05646726
42ErbB signaling pathway_Homo sapiens_hsa040121.02637252
43Melanogenesis_Homo sapiens_hsa049161.02144498
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01645079
45Pancreatic secretion_Homo sapiens_hsa049721.01218945
46Dorso-ventral axis formation_Homo sapiens_hsa043200.99069138
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.98217377
48Oocyte meiosis_Homo sapiens_hsa041140.98076635
49Circadian rhythm_Homo sapiens_hsa047100.93774996
50Axon guidance_Homo sapiens_hsa043600.90711625
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.85353224
52Thyroid hormone synthesis_Homo sapiens_hsa049180.81844875
53Cardiac muscle contraction_Homo sapiens_hsa042600.76888966
54Choline metabolism in cancer_Homo sapiens_hsa052310.75737859
55MAPK signaling pathway_Homo sapiens_hsa040100.74747314
56Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73548394
57Dilated cardiomyopathy_Homo sapiens_hsa054140.71221727
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69473336
59Glucagon signaling pathway_Homo sapiens_hsa049220.69014730
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.67368301
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67081812
62Ovarian steroidogenesis_Homo sapiens_hsa049130.66033300
63Phototransduction_Homo sapiens_hsa047440.65449582
64Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65286536
65VEGF signaling pathway_Homo sapiens_hsa043700.65128770
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.61297518
67Type I diabetes mellitus_Homo sapiens_hsa049400.60830522
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60629753
69mTOR signaling pathway_Homo sapiens_hsa041500.59887238
70Ras signaling pathway_Homo sapiens_hsa040140.58004796
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56781029
72Inositol phosphate metabolism_Homo sapiens_hsa005620.56702580
73Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56653464
74Hippo signaling pathway_Homo sapiens_hsa043900.56459768
75Nitrogen metabolism_Homo sapiens_hsa009100.54744220
76Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54229588
77Rap1 signaling pathway_Homo sapiens_hsa040150.53475242
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52378663
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.47965877
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47154321
81Non-small cell lung cancer_Homo sapiens_hsa052230.45867614
82Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45169828
83Tight junction_Homo sapiens_hsa045300.45115579
84Endometrial cancer_Homo sapiens_hsa052130.43937328
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43257224
86Alcoholism_Homo sapiens_hsa050340.43254918
87Insulin signaling pathway_Homo sapiens_hsa049100.42310070
88Prolactin signaling pathway_Homo sapiens_hsa049170.42019252
89Endocytosis_Homo sapiens_hsa041440.41958105
90Bile secretion_Homo sapiens_hsa049760.41446256
91Wnt signaling pathway_Homo sapiens_hsa043100.40905207
92Renal cell carcinoma_Homo sapiens_hsa052110.39170506
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38124000
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37174170
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32858390
96Fatty acid biosynthesis_Homo sapiens_hsa000610.31936907
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31678751
98Prion diseases_Homo sapiens_hsa050200.31488132
99Chemokine signaling pathway_Homo sapiens_hsa040620.31135108
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31038607
101Protein digestion and absorption_Homo sapiens_hsa049740.31031812
102Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.30273228
103African trypanosomiasis_Homo sapiens_hsa051430.29396635
104Arginine and proline metabolism_Homo sapiens_hsa003300.29070696
105AMPK signaling pathway_Homo sapiens_hsa041520.29045267
106Focal adhesion_Homo sapiens_hsa045100.28391078
107Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.27745669
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.27546457
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.26976536
110ECM-receptor interaction_Homo sapiens_hsa045120.23563239
111Rheumatoid arthritis_Homo sapiens_hsa053230.23467879
112Regulation of actin cytoskeleton_Homo sapiens_hsa048100.22202205
113Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.21757875

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