KCNH5

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.94511811
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.74486735
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.63993792
4vocalization behavior (GO:0071625)5.63282268
5regulation of short-term neuronal synaptic plasticity (GO:0048172)5.61694445
6presynaptic membrane assembly (GO:0097105)5.51285639
7glutamate secretion (GO:0014047)5.50725761
8protein localization to synapse (GO:0035418)5.48951055
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.48470021
10synaptic vesicle exocytosis (GO:0016079)5.19173780
11presynaptic membrane organization (GO:0097090)5.04417212
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.95978696
13neurotransmitter-gated ion channel clustering (GO:0072578)4.94270424
14locomotory exploration behavior (GO:0035641)4.92713818
15regulation of glutamate receptor signaling pathway (GO:1900449)4.89910023
16regulation of synaptic vesicle exocytosis (GO:2000300)4.80297084
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.75635380
18neuronal action potential propagation (GO:0019227)4.59202720
19regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.58092644
20glutamate receptor signaling pathway (GO:0007215)4.56912883
21synaptic vesicle maturation (GO:0016188)4.56116818
22postsynaptic membrane organization (GO:0001941)4.55809314
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.37383313
24G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.36026293
25synaptic transmission, glutamatergic (GO:0035249)4.23027522
26neuron-neuron synaptic transmission (GO:0007270)4.22168306
27regulation of synaptic vesicle transport (GO:1902803)4.18181087
28response to histamine (GO:0034776)4.02752598
29neurotransmitter secretion (GO:0007269)3.99895069
30regulation of excitatory postsynaptic membrane potential (GO:0060079)3.97586156
31regulation of postsynaptic membrane potential (GO:0060078)3.97197995
32gamma-aminobutyric acid signaling pathway (GO:0007214)3.93698355
33cerebellar granule cell differentiation (GO:0021707)3.92792622
34positive regulation of neurotransmitter secretion (GO:0001956)3.91443850
35positive regulation of membrane potential (GO:0045838)3.91243278
36regulation of neuronal synaptic plasticity (GO:0048168)3.87743744
37retinal cone cell development (GO:0046549)3.85908252
38serotonin metabolic process (GO:0042428)3.80883765
39regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.79164359
40regulation of synaptic transmission, glutamatergic (GO:0051966)3.79115392
41startle response (GO:0001964)3.78576618
42exploration behavior (GO:0035640)3.78391671
43cerebellar Purkinje cell differentiation (GO:0021702)3.77229978
44neuron recognition (GO:0008038)3.75585164
45dendritic spine morphogenesis (GO:0060997)3.72086449
46long-term synaptic potentiation (GO:0060291)3.71611899
47positive regulation of synapse maturation (GO:0090129)3.66382879
48regulation of long-term neuronal synaptic plasticity (GO:0048169)3.65397904
49axonal fasciculation (GO:0007413)3.64449637
50negative regulation of cytosolic calcium ion concentration (GO:0051481)3.62251672
51primary amino compound metabolic process (GO:1901160)3.62073850
52positive regulation of neurotransmitter transport (GO:0051590)3.61845522
53positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.60077798
54regulation of synaptic plasticity (GO:0048167)3.53974116
55membrane hyperpolarization (GO:0060081)3.49210761
56proline transport (GO:0015824)3.47961787
57regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.47914528
58regulation of neurotransmitter secretion (GO:0046928)3.47487972
59membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.40221291
60long-term memory (GO:0007616)3.39352887
61gamma-aminobutyric acid transport (GO:0015812)3.39259799
62mechanosensory behavior (GO:0007638)3.36690923
63synapse assembly (GO:0007416)3.36605067
64auditory behavior (GO:0031223)3.34410352
65regulation of dendritic spine morphogenesis (GO:0061001)3.33328617
66layer formation in cerebral cortex (GO:0021819)3.32953859
67behavioral fear response (GO:0001662)3.32656098
68behavioral defense response (GO:0002209)3.32656098
69neurotransmitter transport (GO:0006836)3.31098299
70regulation of voltage-gated calcium channel activity (GO:1901385)3.30358406
71innervation (GO:0060384)3.30251803
72neurofilament cytoskeleton organization (GO:0060052)3.29860280
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.28774834
74membrane depolarization (GO:0051899)3.26764635
75negative regulation of synaptic transmission, GABAergic (GO:0032229)3.26635406
76neuronal action potential (GO:0019228)3.24781277
77behavioral response to cocaine (GO:0048148)3.24607626
78cellular potassium ion homeostasis (GO:0030007)3.23563907
79L-amino acid import (GO:0043092)3.23165699
80positive regulation of synapse assembly (GO:0051965)3.20859523
81regulation of dendritic spine development (GO:0060998)3.20360388
82righting reflex (GO:0060013)3.19490912
83pyrimidine nucleobase catabolic process (GO:0006208)3.18709221
84neuromuscular synaptic transmission (GO:0007274)3.18523993
85sodium ion export (GO:0071436)3.17838671
86adult walking behavior (GO:0007628)3.17832171
87regulation of neurotransmitter transport (GO:0051588)3.16621063
88regulation of synapse structural plasticity (GO:0051823)3.15467679
89regulation of respiratory system process (GO:0044065)3.14283082
90neuromuscular process controlling posture (GO:0050884)3.14019522
91G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.12937951
92neuronal ion channel clustering (GO:0045161)3.12903341
93calcium ion-dependent exocytosis (GO:0017156)3.12746233
94transmission of nerve impulse (GO:0019226)3.11975499
95membrane depolarization during action potential (GO:0086010)3.11399601
96regulation of vesicle fusion (GO:0031338)3.08075542
97response to auditory stimulus (GO:0010996)3.07425370
98positive regulation of muscle hypertrophy (GO:0014742)3.04117232
99positive regulation of cardiac muscle hypertrophy (GO:0010613)3.04117232
100positive regulation of synaptic transmission (GO:0050806)3.03426722
101* synaptic transmission (GO:0007268)3.01605704
102learning (GO:0007612)3.00543853
103positive regulation of dendritic spine morphogenesis (GO:0061003)2.98375646
104regulation of neurotransmitter levels (GO:0001505)2.97984150
105regulation of calcium ion-dependent exocytosis (GO:0017158)2.95992498
106synapse organization (GO:0050808)2.95843922
107membrane assembly (GO:0071709)2.95696440
108activation of protein kinase A activity (GO:0034199)2.94465859
109regulation of synaptic transmission (GO:0050804)2.94286330
110fear response (GO:0042596)2.93735673
111regulation of synapse maturation (GO:0090128)2.93608333
112negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.92942051
113positive regulation of dendritic spine development (GO:0060999)2.91622229
114negative regulation of dendrite development (GO:2000171)2.91573589
115nucleobase catabolic process (GO:0046113)2.89771579
116negative regulation of dendrite morphogenesis (GO:0050774)2.89358578
117synaptic vesicle endocytosis (GO:0048488)2.88094104
118social behavior (GO:0035176)2.87036400
119intraspecies interaction between organisms (GO:0051703)2.87036400
120cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.86850207
121establishment of mitochondrion localization (GO:0051654)2.85828401
122cell differentiation in hindbrain (GO:0021533)2.85190197
123positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84636199
124cochlea development (GO:0090102)2.84074344
125behavioral response to nicotine (GO:0035095)2.83089168
126central nervous system myelination (GO:0022010)2.82939321
127axon ensheathment in central nervous system (GO:0032291)2.82939321
128central nervous system projection neuron axonogenesis (GO:0021952)2.81993786
129dendrite morphogenesis (GO:0048813)2.79997462
130detection of light stimulus involved in sensory perception (GO:0050962)2.78610479
131detection of light stimulus involved in visual perception (GO:0050908)2.78610479
132* potassium ion transmembrane transport (GO:0071805)2.78113424
133* cellular potassium ion transport (GO:0071804)2.78113424
134multicellular organismal signaling (GO:0035637)2.77525140
135neuromuscular process (GO:0050905)2.75791289

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.44546371
2GBX2_23144817_ChIP-Seq_PC3_Human4.62746765
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11459665
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04730231
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01175005
6TAF15_26573619_Chip-Seq_HEK293_Human2.62341413
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58213931
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58213931
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58205877
10* EZH2_27304074_Chip-Seq_ESCs_Mouse2.50338112
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.45158970
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45096613
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.44520157
14REST_21632747_ChIP-Seq_MESCs_Mouse2.42908901
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42840877
16* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.38739622
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.34014621
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.32081469
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25741572
20DROSHA_22980978_ChIP-Seq_HELA_Human2.17468191
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.12983395
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.12157174
23CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06104509
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03681010
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00981913
26ZFP57_27257070_Chip-Seq_ESCs_Mouse1.99330537
27* EZH2_27294783_Chip-Seq_ESCs_Mouse1.98168743
28AR_21572438_ChIP-Seq_LNCaP_Human1.97555057
29* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.96154289
30SMAD4_21799915_ChIP-Seq_A2780_Human1.89820619
31* REST_18959480_ChIP-ChIP_MESCs_Mouse1.83313641
32GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.77373064
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71281930
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.71071009
35* P300_19829295_ChIP-Seq_ESCs_Human1.70226422
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.67825000
37SMAD3_21741376_ChIP-Seq_EPCs_Human1.63212614
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.57478452
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.54672901
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.51903557
41FUS_26573619_Chip-Seq_HEK293_Human1.51823509
42IKZF1_21737484_ChIP-ChIP_HCT116_Human1.50910386
43* STAT3_23295773_ChIP-Seq_U87_Human1.47624451
44IGF1R_20145208_ChIP-Seq_DFB_Human1.44936250
45* PIAS1_25552417_ChIP-Seq_VCAP_Human1.44930622
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.44782417
47* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43460383
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41628784
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.41577581
50* SOX2_21211035_ChIP-Seq_LN229_Gbm1.41380141
51* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40508761
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.39272767
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37810850
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37481555
55AR_25329375_ChIP-Seq_VCAP_Human1.37219036
56SALL1_21062744_ChIP-ChIP_HESCs_Human1.36722832
57BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36633769
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.36478838
59VDR_22108803_ChIP-Seq_LS180_Human1.33264463
60RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33066038
61* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.32479943
62TCF4_23295773_ChIP-Seq_U87_Human1.31220890
63ZNF274_21170338_ChIP-Seq_K562_Hela1.31103468
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27111154
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26101266
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.21944604
67* RNF2_27304074_Chip-Seq_NSC_Mouse1.21245588
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21112142
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.20890362
70* AR_19668381_ChIP-Seq_PC3_Human1.20696164
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.19133318
72RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.17765104
73TP53_16413492_ChIP-PET_HCT116_Human1.16668019
74RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.16404474
75* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15869804
76MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.15453376
77TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14886924
78ERG_21242973_ChIP-ChIP_JURKAT_Human1.14803153
79CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14667950
80AHR_22903824_ChIP-Seq_MCF-7_Human1.14342684
81* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14321343
82* CBP_20019798_ChIP-Seq_JUKART_Human1.14321343
83EWS_26573619_Chip-Seq_HEK293_Human1.14156668
84PCGF2_27294783_Chip-Seq_ESCs_Mouse1.13851158
85EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13559378
86NANOG_18555785_Chip-Seq_ESCs_Mouse1.12330341
87* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.12200044
88BCAT_22108803_ChIP-Seq_LS180_Human1.11922582
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11751783
90RING1B_27294783_Chip-Seq_ESCs_Mouse1.11561508
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.10734501
92* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.09542944
93CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06152457
94* ER_23166858_ChIP-Seq_MCF-7_Human1.06118534
95* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05228354
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04843341
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04843341
98RUNX2_22187159_ChIP-Seq_PCA_Human1.04794505
99MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04199697
100* TP53_18474530_ChIP-ChIP_U2OS_Human1.03411761
101TCF4_22108803_ChIP-Seq_LS180_Human1.03362940
102SMAD4_21741376_ChIP-Seq_EPCs_Human1.03358989
103JUN_21703547_ChIP-Seq_K562_Human1.03030037
104TP53_22573176_ChIP-Seq_HFKS_Human1.02600721
105SMAD3_21741376_ChIP-Seq_ESCs_Human1.02448091
106KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02257216
107WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01773249
108MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01705288
109* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00841951
110SMAD3_21741376_ChIP-Seq_HESCs_Human1.00486364
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99035538
112KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98813234
113* FLI1_21867929_ChIP-Seq_TH2_Mouse0.98754154
114GATA1_26923725_Chip-Seq_HPCs_Mouse0.98268558
115RING1B_27294783_Chip-Seq_NPCs_Mouse0.98263135
116NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98163448
117KDM2B_26808549_Chip-Seq_REH_Human0.97113857
118VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.96532000
119RXR_22108803_ChIP-Seq_LS180_Human0.95156944
120EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95097497
121E2F1_18555785_Chip-Seq_ESCs_Mouse0.94507755

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern6.00780868
2MP0004859_abnormal_synaptic_plasticity5.41588931
3MP0004270_analgesia3.97784909
4MP0003635_abnormal_synaptic_transmissio3.94962452
5MP0001968_abnormal_touch/_nociception3.36229566
6MP0009745_abnormal_behavioral_response3.34095991
7MP0009046_muscle_twitch3.22941242
8MP0002063_abnormal_learning/memory/cond3.10399479
9MP0002064_seizures3.08752972
10MP0005423_abnormal_somatic_nervous3.04832498
11* MP0002572_abnormal_emotion/affect_behav2.76497822
12MP0002734_abnormal_mechanical_nocicepti2.72075573
13MP0002272_abnormal_nervous_system2.66500593
14* MP0001486_abnormal_startle_reflex2.63991427
15MP0002736_abnormal_nociception_after2.61251155
16MP0002735_abnormal_chemical_nociception2.19919316
17MP0008877_abnormal_DNA_methylation2.17872333
18MP0002067_abnormal_sensory_capabilities2.17608420
19MP0005551_abnormal_eye_electrophysiolog2.13791000
20MP0001501_abnormal_sleep_pattern2.05631978
21MP0001440_abnormal_grooming_behavior2.04765719
22MP0003879_abnormal_hair_cell2.04672332
23MP0009780_abnormal_chondrocyte_physiolo2.01239274
24MP0001984_abnormal_olfaction1.85853575
25MP0001970_abnormal_pain_threshold1.84812335
26MP0005646_abnormal_pituitary_gland1.83567332
27MP0002733_abnormal_thermal_nociception1.83537434
28MP0002822_catalepsy1.78897462
29MP0000778_abnormal_nervous_system1.76812888
30MP0003329_amyloid_beta_deposits1.74500891
31MP0005386_behavior/neurological_phenoty1.72559252
32MP0004924_abnormal_behavior1.72559252
33MP0002184_abnormal_innervation1.67420916
34MP0008569_lethality_at_weaning1.66890462
35MP0002557_abnormal_social/conspecific_i1.66199962
36MP0006276_abnormal_autonomic_nervous1.55066412
37MP0001188_hyperpigmentation1.52988503
38MP0001502_abnormal_circadian_rhythm1.50398916
39MP0010386_abnormal_urinary_bladder1.46218835
40MP0001529_abnormal_vocalization1.44215712
41MP0002882_abnormal_neuron_morphology1.44022393
42MP0004811_abnormal_neuron_physiology1.43558490
43MP0006072_abnormal_retinal_apoptosis1.42933791
44MP0004147_increased_porphyrin_level1.40330606
45MP0002909_abnormal_adrenal_gland1.38632219
46MP0004142_abnormal_muscle_tone1.37257591
47MP0000955_abnormal_spinal_cord1.35685018
48MP0003633_abnormal_nervous_system1.32921577
49MP0001905_abnormal_dopamine_level1.32174761
50MP0004858_abnormal_nervous_system1.31897373
51MP0002066_abnormal_motor_capabilities/c1.31892342
52MP0002653_abnormal_ependyma_morphology1.30558919
53MP0004145_abnormal_muscle_electrophysio1.27648063
54MP0002229_neurodegeneration1.24029464
55MP0006292_abnormal_olfactory_placode1.23148267
56MP0005253_abnormal_eye_physiology1.22793777
57MP0003787_abnormal_imprinting1.20567226
58MP0001986_abnormal_taste_sensitivity1.19711542
59MP0004742_abnormal_vestibular_system1.13384279
60MP0002638_abnormal_pupillary_reflex1.12833631
61MP0003631_nervous_system_phenotype1.11683477
62MP0001963_abnormal_hearing_physiology1.03600086
63MP0002152_abnormal_brain_morphology1.00860863
64MP0004885_abnormal_endolymph0.99253885
65MP0002752_abnormal_somatic_nervous0.99216711
66MP0003121_genomic_imprinting0.98995860
67MP0002090_abnormal_vision0.97579931
68MP0004233_abnormal_muscle_weight0.96051950
69MP0002837_dystrophic_cardiac_calcinosis0.90853169
70MP0001485_abnormal_pinna_reflex0.90204932
71MP0008872_abnormal_physiological_respon0.89762311
72MP0003122_maternal_imprinting0.89216077
73MP0000751_myopathy0.88987955
74MP0000631_abnormal_neuroendocrine_gland0.87994284
75MP0004133_heterotaxia0.84833360
76MP0003119_abnormal_digestive_system0.83589416
77MP0005645_abnormal_hypothalamus_physiol0.82283627
78MP0005409_darkened_coat_color0.82271040
79MP0000569_abnormal_digit_pigmentation0.81626672
80MP0005171_absent_coat_pigmentation0.81608169
81MP0003698_abnormal_male_reproductive0.81183822
82MP0004085_abnormal_heartbeat0.78851003
83MP0008874_decreased_physiological_sensi0.78711679
84MP0002069_abnormal_eating/drinking_beha0.78588288
85MP0005167_abnormal_blood-brain_barrier0.77832201
86MP0002876_abnormal_thyroid_physiology0.76343435
87MP0001177_atelectasis0.75775747
88MP0003634_abnormal_glial_cell0.75378484
89MP0005535_abnormal_body_temperature0.75206204
90MP0000920_abnormal_myelination0.74958112
91MP0004215_abnormal_myocardial_fiber0.74409336
92MP0003632_abnormal_nervous_system0.73955521
93MP0004130_abnormal_muscle_cell0.71971939
94MP0000604_amyloidosis0.71050719
95MP0003123_paternal_imprinting0.69758718
96MP0005195_abnormal_posterior_eye0.68477640
97MP0000013_abnormal_adipose_tissue0.67307207
98MP0003878_abnormal_ear_physiology0.67025050
99MP0005377_hearing/vestibular/ear_phenot0.67025050
100MP0003890_abnormal_embryonic-extraembry0.67010292
101MP0005187_abnormal_penis_morphology0.66452839
102MP0005410_abnormal_fertilization0.65765272
103MP0000026_abnormal_inner_ear0.65204571
104MP0002102_abnormal_ear_morphology0.64835935
105MP0002160_abnormal_reproductive_system0.64381656
106MP0001664_abnormal_digestion0.64346217
107MP0003718_maternal_effect0.63456687
108MP0004484_altered_response_of0.62723686
109MP0001943_abnormal_respiration0.62546439
110MP0001929_abnormal_gametogenesis0.61380094
111MP0005394_taste/olfaction_phenotype0.60881204
112MP0005499_abnormal_olfactory_system0.60881204
113MP0003690_abnormal_glial_cell0.60819191
114MP0001299_abnormal_eye_distance/0.60355423
115MP0002751_abnormal_autonomic_nervous0.59356499
116MP0000427_abnormal_hair_cycle0.58995731
117MP0003646_muscle_fatigue0.56913211
118MP0003183_abnormal_peptide_metabolism0.54975254
119MP0004043_abnormal_pH_regulation0.51552741
120MP0010770_preweaning_lethality0.49358703
121MP0002082_postnatal_lethality0.49358703
122MP0004036_abnormal_muscle_relaxation0.49065136
123MP0003861_abnormal_nervous_system0.48295270

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.27930338
2Epileptic encephalopathy (HP:0200134)6.09377797
3Focal seizures (HP:0007359)5.48309750
4Myokymia (HP:0002411)5.26783500
5Hyperventilation (HP:0002883)5.26092557
6Atonic seizures (HP:0010819)4.91228831
7Febrile seizures (HP:0002373)4.60866249
8Absence seizures (HP:0002121)4.42138371
9Broad-based gait (HP:0002136)4.38383680
10Visual hallucinations (HP:0002367)4.33711663
11Progressive cerebellar ataxia (HP:0002073)4.10799087
12Dialeptic seizures (HP:0011146)3.96101338
13Congenital stationary night blindness (HP:0007642)3.85817323
14Gaze-evoked nystagmus (HP:0000640)3.82832523
15Generalized tonic-clonic seizures (HP:0002069)3.72944400
16Truncal ataxia (HP:0002078)3.40346976
17Poor eye contact (HP:0000817)3.39723768
18Action tremor (HP:0002345)3.29808392
19Amblyopia (HP:0000646)3.28453064
20Dysdiadochokinesis (HP:0002075)3.24043433
21Scanning speech (HP:0002168)3.12350818
22Excessive salivation (HP:0003781)3.12166750
23Drooling (HP:0002307)3.12166750
24Impaired vibration sensation in the lower limbs (HP:0002166)3.04021860
25Impaired smooth pursuit (HP:0007772)3.00852896
26Abnormal social behavior (HP:0012433)2.99442017
27Impaired social interactions (HP:0000735)2.99442017
28Epileptiform EEG discharges (HP:0011182)2.94207611
29Dysmetria (HP:0001310)2.92698731
30Urinary bladder sphincter dysfunction (HP:0002839)2.90236762
31Absent speech (HP:0001344)2.89015022
32Genetic anticipation (HP:0003743)2.86664250
33Abnormality of macular pigmentation (HP:0008002)2.86101492
34Supranuclear gaze palsy (HP:0000605)2.83744005
35Protruding tongue (HP:0010808)2.77867143
36Termporal pattern (HP:0011008)2.74039921
37Insidious onset (HP:0003587)2.74039921
38Dysmetric saccades (HP:0000641)2.70190221
39EEG with generalized epileptiform discharges (HP:0011198)2.65581042
40Abnormality of the labia minora (HP:0012880)2.63874378
41Stereotypic behavior (HP:0000733)2.60941251
42Inability to walk (HP:0002540)2.60745220
43Limb dystonia (HP:0002451)2.60119660
44Type II lissencephaly (HP:0007260)2.57591879
45Depression (HP:0000716)2.56916736
46Blue irides (HP:0000635)2.48831765
47Anxiety (HP:0000739)2.47845895
48Decreased central vision (HP:0007663)2.44783502
49Hemiparesis (HP:0001269)2.40705698
50Bony spicule pigmentary retinopathy (HP:0007737)2.38311196
51Impaired vibratory sensation (HP:0002495)2.37697916
52Thyroid-stimulating hormone excess (HP:0002925)2.35984004
53Abnormality of the corticospinal tract (HP:0002492)2.35627983
54Hypsarrhythmia (HP:0002521)2.35294296
55Pancreatic cysts (HP:0001737)2.34316759
56Abnormality of ocular smooth pursuit (HP:0000617)2.34285140
57Pancreatic fibrosis (HP:0100732)2.33887072
58Abnormal eating behavior (HP:0100738)2.33354433
59Central scotoma (HP:0000603)2.31997647
60Urinary urgency (HP:0000012)2.31528608
61Spastic gait (HP:0002064)2.30666112
62Fetal akinesia sequence (HP:0001989)2.30289630
63Molar tooth sign on MRI (HP:0002419)2.27157483
64Abnormality of midbrain morphology (HP:0002418)2.27157483
65Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.23246972
66Abnormality of alanine metabolism (HP:0010916)2.23246972
67Hyperalaninemia (HP:0003348)2.23246972
68Ankle clonus (HP:0011448)2.23037564
69Diplopia (HP:0000651)2.22411397
70Abnormality of binocular vision (HP:0011514)2.22411397
71Postural instability (HP:0002172)2.21795257
72Absent rod-and cone-mediated responses on ERG (HP:0007688)2.21279302
73Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.20495127
74Degeneration of the lateral corticospinal tracts (HP:0002314)2.20495127
75Gait imbalance (HP:0002141)2.19247772
76Optic nerve hypoplasia (HP:0000609)2.19139014
77Abnormality of salivation (HP:0100755)2.17338910
78Abnormal rod and cone electroretinograms (HP:0008323)2.16403192
79Retinal dysplasia (HP:0007973)2.15260149
80True hermaphroditism (HP:0010459)2.14457589
81Choroideremia (HP:0001139)2.14042743
82Neurofibrillary tangles (HP:0002185)2.11563224
83Widely spaced teeth (HP:0000687)2.11156069
84Nephronophthisis (HP:0000090)2.10511786
85Cerebral inclusion bodies (HP:0100314)2.09416895
86Status epilepticus (HP:0002133)2.09352006
87Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.08958702
88Lissencephaly (HP:0001339)2.07494089
89Progressive inability to walk (HP:0002505)2.06164791
90Dyschromatopsia (HP:0007641)2.04654478
91Generalized myoclonic seizures (HP:0002123)2.03718235
92Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.03552841
93Gait ataxia (HP:0002066)2.01749170
94Generalized hypopigmentation of hair (HP:0011358)2.01506362
95Sensory axonal neuropathy (HP:0003390)2.00945866
96Chronic hepatic failure (HP:0100626)2.00694330
97Oligodactyly (hands) (HP:0001180)2.00156166
98Narrow nasal bridge (HP:0000446)1.98084379
99Bradykinesia (HP:0002067)1.97912682
100Morphological abnormality of the pyramidal tract (HP:0002062)1.96766896
101Clumsiness (HP:0002312)1.96385885
102Hemiplegia (HP:0002301)1.96031355
103Dynein arm defect of respiratory motile cilia (HP:0012255)1.95269402
104Absent/shortened dynein arms (HP:0200106)1.95269402
105Pheochromocytoma (HP:0002666)1.95102438
106Fair hair (HP:0002286)1.91299634
107Congenital primary aphakia (HP:0007707)1.90732880
108Agitation (HP:0000713)1.89787089
109Lower limb amyotrophy (HP:0007210)1.88824203
110Specific learning disability (HP:0001328)1.87294254
111Lower limb muscle weakness (HP:0007340)1.86924855
112Papilledema (HP:0001085)1.85109922
113Hyperthyroidism (HP:0000836)1.84822588
114Abnormality of saccadic eye movements (HP:0000570)1.84270372
115Polyphagia (HP:0002591)1.82373027
116Cystic liver disease (HP:0006706)1.81741280
117Torticollis (HP:0000473)1.80501577
118Genital tract atresia (HP:0001827)1.79488114
119Thickened helices (HP:0000391)1.77661765
120Abnormality of the renal medulla (HP:0100957)1.77518683
121Mutism (HP:0002300)1.77325863
122Medial flaring of the eyebrow (HP:0010747)1.77318291
123Attenuation of retinal blood vessels (HP:0007843)1.76480214
124Inappropriate behavior (HP:0000719)1.76332529
125Volvulus (HP:0002580)1.76245176
126Paraplegia (HP:0010550)1.75653655
127Abnormality of the lower motor neuron (HP:0002366)1.74366856
128Spastic tetraplegia (HP:0002510)1.74091617
129Nephrogenic diabetes insipidus (HP:0009806)1.73075127
130Sleep apnea (HP:0010535)1.69319641
131Vaginal atresia (HP:0000148)1.69088655
132Spastic paraplegia (HP:0001258)1.68284898
133Polydipsia (HP:0001959)1.63131907
134Abnormal drinking behavior (HP:0030082)1.63131907
135Hypomagnesemia (HP:0002917)1.61820338

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.11844537
2EPHA45.02850122
3NTRK34.47604304
4MAP3K43.02346625
5DAPK22.99473751
6MAP3K92.87173052
7MAP2K72.69579580
8MARK12.28199659
9CDK192.21323653
10CCNB12.18986996
11PINK12.18632261
12MAP3K122.14426758
13WNK31.97419378
14MINK11.93408547
15MAP2K41.89908613
16NTRK21.88850279
17TNIK1.87538304
18RIPK41.83925627
19DAPK11.82486043
20CAMKK21.74897842
21NTRK11.73230756
22PAK61.72679519
23PLK21.56620723
24ADRBK21.52920611
25CAMKK11.45307231
26OXSR11.44979114
27SIK21.44496368
28KSR21.41781580
29AKT31.36761861
30MAPK131.36610695
31CDK51.35534567
32KSR11.29177484
33STK381.23175281
34TRIM281.19906751
35PRPF4B1.19485240
36PNCK1.14768998
37CAMK2A1.08098680
38MAP3K21.06806060
39SGK4941.06099501
40SGK2231.06099501
41SGK21.03048964
42GRK51.02807966
43MAP4K21.01369963
44PRKCG0.97144734
45CAMK2B0.90172628
46FES0.86702382
47CAMK10.83918365
48BMPR20.82296823
49GRK10.81738538
50ARAF0.80236751
51UHMK10.79073166
52DYRK20.78971428
53STK110.78742591
54PRKD30.77993952
55MAP3K130.76020000
56STK390.75298275
57SGK10.73428637
58MUSK0.73113090
59CDK180.72615250
60ACVR1B0.71718067
61FGFR20.71562365
62CDK150.68907578
63NUAK10.68746931
64RAF10.66950711
65SIK30.66313609
66TNK20.66175477
67SGK30.65064252
68CDK140.64122331
69BMPR1B0.63633541
70PKN10.63490210
71BRAF0.62471535
72CSNK1G20.62276627
73PIK3CA0.61535282
74MKNK20.59811432
75MAPK70.59762878
76MAPK120.59451087
77MARK20.58796170
78LATS20.58546534
79CDK11A0.57022504
80PAK30.56796338
81FER0.55897288
82FRK0.55196744
83CDK30.54301379
84PDK10.54189192
85CSNK1G30.53840654
86CAMK2D0.53677159
87ADRBK10.53307200
88CSNK1G10.53114573
89RET0.53079927
90WNK10.52489046
91PDPK10.51775079
92PHKG10.51729530
93PHKG20.51729530
94PRKCE0.51685404
95ZAK0.50996853
96RPS6KA30.50263349
97CAMK1G0.48725514
98INSRR0.48391617
99CSNK1A1L0.47577986
100PTK2B0.47267501
101MAP3K60.47197959
102CSNK1D0.46724172
103WNK40.46292394
104BCR0.46043339
105PRKCH0.45702919
106TYRO30.45363911
107EPHA30.45345323
108PRKCA0.44884859
109TAOK10.44497805
110NEK60.44491279
111FGR0.44476583
112BRSK10.42687599
113PRKG10.42417000
114MAP3K10.42104532
115MAPKAPK50.42096758
116DYRK1A0.41198168
117CSNK1A10.40815723
118MAPK100.40256816
119PRKACA0.39840953
120PRKCZ0.37271755
121CAMK2G0.36922435
122CAMK40.36407687
123DAPK30.35833573
124CSNK1E0.35470839
125PRKCB0.35297901
126PRKCI0.35110593
127NEK20.34977183
128GSK3B0.34537458

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.91275259
2Synaptic vesicle cycle_Homo sapiens_hsa047213.12186200
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.88322020
4Circadian entrainment_Homo sapiens_hsa047132.82032336
5Glutamatergic synapse_Homo sapiens_hsa047242.75975863
6Long-term potentiation_Homo sapiens_hsa047202.71555286
7Amphetamine addiction_Homo sapiens_hsa050312.67493693
8GABAergic synapse_Homo sapiens_hsa047272.66771636
9Olfactory transduction_Homo sapiens_hsa047402.63826515
10Morphine addiction_Homo sapiens_hsa050322.60410676
11Phototransduction_Homo sapiens_hsa047442.50228568
12Salivary secretion_Homo sapiens_hsa049702.33849756
13Insulin secretion_Homo sapiens_hsa049112.21263290
14Dopaminergic synapse_Homo sapiens_hsa047282.19164927
15Renin secretion_Homo sapiens_hsa049242.00479330
16Cholinergic synapse_Homo sapiens_hsa047251.96602197
17Taste transduction_Homo sapiens_hsa047421.92181928
18Long-term depression_Homo sapiens_hsa047301.90668806
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89749078
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.89483686
21Serotonergic synapse_Homo sapiens_hsa047261.89409424
22Gastric acid secretion_Homo sapiens_hsa049711.86729976
23Oxytocin signaling pathway_Homo sapiens_hsa049211.77342676
24Cocaine addiction_Homo sapiens_hsa050301.75095135
25Calcium signaling pathway_Homo sapiens_hsa040201.66968326
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61804995
27Collecting duct acid secretion_Homo sapiens_hsa049661.47090683
28GnRH signaling pathway_Homo sapiens_hsa049121.46414630
29Gap junction_Homo sapiens_hsa045401.39217301
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34294376
31cAMP signaling pathway_Homo sapiens_hsa040241.28842462
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25513146
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17863367
34Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.16133792
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.14836314
36Circadian rhythm_Homo sapiens_hsa047101.14520401
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.14366419
38Axon guidance_Homo sapiens_hsa043601.14058665
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10890376
40Type II diabetes mellitus_Homo sapiens_hsa049301.10699166
41Glioma_Homo sapiens_hsa052141.08494809
42Estrogen signaling pathway_Homo sapiens_hsa049151.07520458
43Vibrio cholerae infection_Homo sapiens_hsa051101.05850502
44Vascular smooth muscle contraction_Homo sapiens_hsa042701.05085406
45Melanogenesis_Homo sapiens_hsa049161.04246169
46ErbB signaling pathway_Homo sapiens_hsa040121.03121605
47Cardiac muscle contraction_Homo sapiens_hsa042600.97869544
48Butanoate metabolism_Homo sapiens_hsa006500.96667554
49Pancreatic secretion_Homo sapiens_hsa049720.95474702
50Dorso-ventral axis formation_Homo sapiens_hsa043200.88270080
51Ether lipid metabolism_Homo sapiens_hsa005650.87626564
52Oocyte meiosis_Homo sapiens_hsa041140.86875003
53Dilated cardiomyopathy_Homo sapiens_hsa054140.85101377
54MAPK signaling pathway_Homo sapiens_hsa040100.79539094
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79250067
56Thyroid hormone synthesis_Homo sapiens_hsa049180.75553716
57Linoleic acid metabolism_Homo sapiens_hsa005910.74337639
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72701447
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71875475
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.70711908
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69814488
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.68095795
63Ras signaling pathway_Homo sapiens_hsa040140.66735956
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.65136843
65Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62367707
66Choline metabolism in cancer_Homo sapiens_hsa052310.60315641
67Glucagon signaling pathway_Homo sapiens_hsa049220.58754478
68Basal transcription factors_Homo sapiens_hsa030220.58190295
69African trypanosomiasis_Homo sapiens_hsa051430.57134341
70ABC transporters_Homo sapiens_hsa020100.55983098
71Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54007981
72Wnt signaling pathway_Homo sapiens_hsa043100.53488205
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53170464
74Nitrogen metabolism_Homo sapiens_hsa009100.53126674
75Regulation of autophagy_Homo sapiens_hsa041400.52063499
76Rap1 signaling pathway_Homo sapiens_hsa040150.50314441
77Inositol phosphate metabolism_Homo sapiens_hsa005620.49961331
78Ovarian steroidogenesis_Homo sapiens_hsa049130.49765288
79Alcoholism_Homo sapiens_hsa050340.48933107
80VEGF signaling pathway_Homo sapiens_hsa043700.47429350
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46412251
82Fatty acid biosynthesis_Homo sapiens_hsa000610.45817285
83Oxidative phosphorylation_Homo sapiens_hsa001900.45473069
84Hedgehog signaling pathway_Homo sapiens_hsa043400.43840526
85Arginine biosynthesis_Homo sapiens_hsa002200.43747746
86Alzheimers disease_Homo sapiens_hsa050100.42706775
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.41960231
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41447669
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.41186839
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40916964
91mTOR signaling pathway_Homo sapiens_hsa041500.39978214
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39348728
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38786569
94Huntingtons disease_Homo sapiens_hsa050160.38733440
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38719505
96Hippo signaling pathway_Homo sapiens_hsa043900.37961623
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37689562
98beta-Alanine metabolism_Homo sapiens_hsa004100.37412085
99Mineral absorption_Homo sapiens_hsa049780.37320057
100Neurotrophin signaling pathway_Homo sapiens_hsa047220.37317957
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36732032
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35757702
103Renal cell carcinoma_Homo sapiens_hsa052110.35710124
104Parkinsons disease_Homo sapiens_hsa050120.32800191
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.32072661
106Arginine and proline metabolism_Homo sapiens_hsa003300.31446324
107Tryptophan metabolism_Homo sapiens_hsa003800.31145334
108Prion diseases_Homo sapiens_hsa050200.30633749
109Non-small cell lung cancer_Homo sapiens_hsa052230.30555816
110Bile secretion_Homo sapiens_hsa049760.30003873
111Maturity onset diabetes of the young_Homo sapiens_hsa049500.29624161
112Vitamin B6 metabolism_Homo sapiens_hsa007500.28733997
113Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26213366
114Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.25509866
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.23426927
116Fanconi anemia pathway_Homo sapiens_hsa034600.23159575
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.22136787
118Melanoma_Homo sapiens_hsa052180.21357381
119Rheumatoid arthritis_Homo sapiens_hsa053230.19733887
120Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.19717285
121Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.19117503
122Endometrial cancer_Homo sapiens_hsa052130.18999476
123Endocytosis_Homo sapiens_hsa041440.18558838
124Insulin signaling pathway_Homo sapiens_hsa049100.18406888
125Type I diabetes mellitus_Homo sapiens_hsa049400.17297005

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