KCNAB1

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





Description: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cerebellar granule cell differentiation (GO:0021707)5.84169739
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.51729609
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.41279121
4vocalization behavior (GO:0071625)5.22482386
5locomotory exploration behavior (GO:0035641)5.14800241
6synaptic vesicle exocytosis (GO:0016079)5.10168033
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.04405856
8neuronal action potential propagation (GO:0019227)4.97173604
9synaptic vesicle maturation (GO:0016188)4.94064756
10short-term memory (GO:0007614)4.90581506
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.81158481
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.76686235
13regulation of glutamate receptor signaling pathway (GO:1900449)4.75968503
14membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.65289783
15regulation of synapse structural plasticity (GO:0051823)4.64326593
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.58352674
17synaptic vesicle docking involved in exocytosis (GO:0016081)4.57425315
18neuron-neuron synaptic transmission (GO:0007270)4.55779093
19regulation of synaptic vesicle exocytosis (GO:2000300)4.53730241
20protein localization to synapse (GO:0035418)4.48627221
21sodium ion export (GO:0071436)4.47514692
22neurotransmitter-gated ion channel clustering (GO:0072578)4.41824238
23synaptic transmission, glutamatergic (GO:0035249)4.34146825
24glutamate secretion (GO:0014047)4.33885922
25striatum development (GO:0021756)4.33313397
26regulation of neuronal synaptic plasticity (GO:0048168)4.32324625
27glutamate receptor signaling pathway (GO:0007215)4.31003050
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.27728621
29neurotransmitter secretion (GO:0007269)4.24084138
30synaptic transmission, dopaminergic (GO:0001963)4.20859986
31negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.18963020
32C4-dicarboxylate transport (GO:0015740)4.16914450
33prepulse inhibition (GO:0060134)4.14212694
34regulation of synaptic vesicle transport (GO:1902803)4.08223568
35regulation of excitatory postsynaptic membrane potential (GO:0060079)4.07111768
36positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.03178354
37exploration behavior (GO:0035640)4.01245283
38long-term memory (GO:0007616)3.96567395
39positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.96102044
40cell differentiation in hindbrain (GO:0021533)3.94915710
41gamma-aminobutyric acid transport (GO:0015812)3.92908348
42regulation of synaptic transmission, glutamatergic (GO:0051966)3.90571744
43long-term synaptic potentiation (GO:0060291)3.90486837
44neuron cell-cell adhesion (GO:0007158)3.87269170
45positive regulation of synaptic transmission, GABAergic (GO:0032230)3.87215637
46cellular sodium ion homeostasis (GO:0006883)3.85631309
47behavioral response to cocaine (GO:0048148)3.83494494
48regulation of postsynaptic membrane potential (GO:0060078)3.80008544
49regulation of dendritic spine morphogenesis (GO:0061001)3.77923452
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.76184559
51gamma-aminobutyric acid signaling pathway (GO:0007214)3.75580368
52cerebellar Purkinje cell layer development (GO:0021680)3.75357482
53regulation of synaptic plasticity (GO:0048167)3.75156782
54positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.73785584
55transmission of nerve impulse (GO:0019226)3.72317577
56negative regulation of synaptic transmission, GABAergic (GO:0032229)3.72282889
57positive regulation of membrane potential (GO:0045838)3.70793138
58positive regulation of neurotransmitter transport (GO:0051590)3.70772976
59positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.69436613
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.68784434
61behavioral defense response (GO:0002209)3.67770292
62behavioral fear response (GO:0001662)3.67770292
63retinal cone cell development (GO:0046549)3.64855740
64response to histamine (GO:0034776)3.61053264
65positive regulation of synapse maturation (GO:0090129)3.60452970
66adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.60320260
67cellular potassium ion homeostasis (GO:0030007)3.57856690
68regulation of glutamate secretion (GO:0014048)3.56307907
69potassium ion homeostasis (GO:0055075)3.53541171
70regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.53337790
71regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.53337790
72regulation of female receptivity (GO:0045924)3.52914070
73auditory behavior (GO:0031223)3.52744708
74neuromuscular process controlling balance (GO:0050885)3.52738660
75detection of calcium ion (GO:0005513)3.52600479
76membrane depolarization during action potential (GO:0086010)3.48448662
77response to amphetamine (GO:0001975)3.46654565
78regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.42248842
79cerebellar Purkinje cell differentiation (GO:0021702)3.41039918
80long term synaptic depression (GO:0060292)3.39379760
81positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.39305901
82membrane depolarization (GO:0051899)3.38912797
83neurotransmitter transport (GO:0006836)3.38450131
84G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.38425714
85positive regulation of neurotransmitter secretion (GO:0001956)3.38090963
86response to auditory stimulus (GO:0010996)3.36916681
87neuromuscular process controlling posture (GO:0050884)3.35697664
88regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.33845259
89fear response (GO:0042596)3.33622677
90positive regulation of dendritic spine morphogenesis (GO:0061003)3.33252353
91membrane hyperpolarization (GO:0060081)3.31431562
92G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.30755462
93regulation of neurotransmitter secretion (GO:0046928)3.30363750
94negative regulation of dendrite development (GO:2000171)3.28840646
95female mating behavior (GO:0060180)3.27941065
96learning (GO:0007612)3.27731307
97negative regulation of dendrite morphogenesis (GO:0050774)3.27408171
98dopamine receptor signaling pathway (GO:0007212)3.27094276
99regulation of neurotransmitter transport (GO:0051588)3.27000932
100neuronal ion channel clustering (GO:0045161)3.26345264
101regulation of neurotransmitter uptake (GO:0051580)3.24558616
102regulation of voltage-gated calcium channel activity (GO:1901385)3.24110462
103positive regulation of synaptic transmission (GO:0050806)3.23880083
104neurofilament cytoskeleton organization (GO:0060052)3.23063786
105regulation of synaptic transmission, GABAergic (GO:0032228)3.22237581
106serotonin metabolic process (GO:0042428)3.22096868
107layer formation in cerebral cortex (GO:0021819)3.22015847
108regulation of neurotransmitter levels (GO:0001505)3.21631664
109dendritic spine morphogenesis (GO:0060997)3.20090769
110activation of protein kinase A activity (GO:0034199)3.19418424
111neuromuscular synaptic transmission (GO:0007274)3.18450539
112proline transport (GO:0015824)3.15320311
113negative regulation of amino acid transport (GO:0051956)3.13243664
114synaptic vesicle endocytosis (GO:0048488)3.11208251
115regulation of protein kinase A signaling (GO:0010738)3.10692949
116* synaptic transmission (GO:0007268)3.10526930
117positive regulation of cardiac muscle hypertrophy (GO:0010613)3.10366491
118positive regulation of muscle hypertrophy (GO:0014742)3.10366491
119negative regulation of cytosolic calcium ion concentration (GO:0051481)3.10051478
120regulation of cell communication by electrical coupling (GO:0010649)3.09874048
121presynaptic membrane organization (GO:0097090)3.09604645
122chemosensory behavior (GO:0007635)3.09087278
123regulation of vesicle fusion (GO:0031338)3.08975915
124positive regulation of dendritic spine development (GO:0060999)3.08922240
125mechanosensory behavior (GO:0007638)3.08604457
126visual learning (GO:0008542)3.07969621
127cell communication by electrical coupling (GO:0010644)3.06679164
128adult walking behavior (GO:0007628)3.06217880
129regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.05501584
130regulation of dendritic spine development (GO:0060998)3.03463416
131positive regulation of potassium ion transmembrane transport (GO:1901381)3.02000004
132metanephric nephron tubule development (GO:0072234)2.99670159
133metanephric tubule development (GO:0072170)2.99670159
134acidic amino acid transport (GO:0015800)2.99628949
135potassium ion import (GO:0010107)2.98886011
136axon ensheathment in central nervous system (GO:0032291)2.94862192
137central nervous system myelination (GO:0022010)2.94862192
138axonal fasciculation (GO:0007413)2.94024167
139postsynaptic membrane organization (GO:0001941)2.92509641
140urinary tract smooth muscle contraction (GO:0014848)2.90544094
141presynaptic membrane assembly (GO:0097105)2.89977234

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.51189434
2GBX2_23144817_ChIP-Seq_PC3_Human4.00938351
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.28853113
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.26671249
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12256920
6* RARB_27405468_Chip-Seq_BRAIN_Mouse2.99740488
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78732268
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78732268
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.76796426
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74786396
11REST_21632747_ChIP-Seq_MESCs_Mouse2.70058904
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.60265963
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57253825
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53276286
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52474271
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.47222584
17DROSHA_22980978_ChIP-Seq_HELA_Human2.42669236
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.29831081
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.23860662
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.22408604
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22065954
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.21533524
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.20100628
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.18716528
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06972734
26TAF15_26573619_Chip-Seq_HEK293_Human2.06730794
27AR_21572438_ChIP-Seq_LNCaP_Human1.90435073
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82181855
29CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.80635509
30* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76442870
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.75995636
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73927203
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71827809
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.70579409
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.67768380
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67063337
37EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66043956
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60122881
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.57706763
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52771291
41P300_19829295_ChIP-Seq_ESCs_Human1.52314490
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40803889
43* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40435395
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.36032658
45CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35929919
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35730209
47BMI1_23680149_ChIP-Seq_NPCS_Mouse1.31514110
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.31401497
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.31115827
50AR_25329375_ChIP-Seq_VCAP_Human1.30750122
51* STAT3_23295773_ChIP-Seq_U87_Human1.30108979
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.30000198
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27981507
54* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23374859
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22859605
56P53_22127205_ChIP-Seq_FIBROBLAST_Human1.22799483
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21540957
58AR_19668381_ChIP-Seq_PC3_Human1.20067455
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20050918
60ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19990811
61TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18152924
62PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.18125065
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.17916657
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.17755210
65RING1B_27294783_Chip-Seq_ESCs_Mouse1.17163021
66LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15779930
67ZNF274_21170338_ChIP-Seq_K562_Hela1.15568281
68SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15101539
69* TCF4_23295773_ChIP-Seq_U87_Human1.14763084
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14290144
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13067673
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13067673
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12802670
74CBP_20019798_ChIP-Seq_JUKART_Human1.12802670
75* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.12620047
76CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.11754686
77DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09666573
78WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09275607
79FLI1_27457419_Chip-Seq_LIVER_Mouse1.07866412
80CTNNB1_20460455_ChIP-Seq_HCT116_Human1.07651514
81RNF2_27304074_Chip-Seq_NSC_Mouse1.06274469
82EWS_26573619_Chip-Seq_HEK293_Human1.05796743
83* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04974832
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.04969245
85TCF4_22108803_ChIP-Seq_LS180_Human1.03791329
86* P53_22387025_ChIP-Seq_ESCs_Mouse1.03325690
87* RUNX2_22187159_ChIP-Seq_PCA_Human1.03163082
88* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03135837
89* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02918014
90ARNT_22903824_ChIP-Seq_MCF-7_Human1.02906419
91* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02187281
92FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.02138626
93* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.02020955
94* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.02020955
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01190148
96* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00695009
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00541985
98AHR_22903824_ChIP-Seq_MCF-7_Human0.98604504
99SMAD3_21741376_ChIP-Seq_HESCs_Human0.98064215
100RING1B_27294783_Chip-Seq_NPCs_Mouse0.97972095
101VDR_22108803_ChIP-Seq_LS180_Human0.97778673
102IGF1R_20145208_ChIP-Seq_DFB_Human0.97275029
103* JUN_21703547_ChIP-Seq_K562_Human0.96573934
104CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96335251
105VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93913541
106TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.93749623
107BCAT_22108803_ChIP-Seq_LS180_Human0.93714249
108RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.93278320
109FUS_26573619_Chip-Seq_HEK293_Human0.93198727
110NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92935095
111TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.91397663
112TP53_16413492_ChIP-PET_HCT116_Human0.90728690
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.90423704
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.90219346
115RXR_22108803_ChIP-Seq_LS180_Human0.89329284
116NANOG_18555785_Chip-Seq_ESCs_Mouse0.88973017
117WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88433946
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87309200
119* SMAD4_21741376_ChIP-Seq_EPCs_Human0.86982521
120TP53_18474530_ChIP-ChIP_U2OS_Human0.86301599

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.35013090
2MP0002822_catalepsy5.26026029
3MP0003880_abnormal_central_pattern4.85888486
4* MP0003635_abnormal_synaptic_transmissio4.21116070
5MP0009745_abnormal_behavioral_response3.74553647
6MP0004270_analgesia3.48754957
7MP0009046_muscle_twitch3.45340061
8* MP0002063_abnormal_learning/memory/cond3.44159701
9MP0001968_abnormal_touch/_nociception3.42947148
10MP0002064_seizures3.27368325
11MP0002736_abnormal_nociception_after2.93615721
12MP0002572_abnormal_emotion/affect_behav2.93138952
13* MP0002272_abnormal_nervous_system2.81968421
14MP0001486_abnormal_startle_reflex2.60379582
15MP0002734_abnormal_mechanical_nocicepti2.54997783
16MP0001501_abnormal_sleep_pattern2.50555227
17MP0002735_abnormal_chemical_nociception2.49901383
18MP0005423_abnormal_somatic_nervous2.16855359
19MP0001529_abnormal_vocalization2.08667639
20MP0002067_abnormal_sensory_capabilities2.04523511
21MP0001440_abnormal_grooming_behavior2.04438091
22MP0001970_abnormal_pain_threshold1.99488410
23MP0002733_abnormal_thermal_nociception1.99126420
24MP0008569_lethality_at_weaning1.96706708
25MP0005646_abnormal_pituitary_gland1.95984428
26MP0002909_abnormal_adrenal_gland1.83419251
27MP0004924_abnormal_behavior1.78723216
28MP0005386_behavior/neurological_phenoty1.78723216
29MP0001984_abnormal_olfaction1.74597341
30MP0009780_abnormal_chondrocyte_physiolo1.71744752
31MP0002184_abnormal_innervation1.66572287
32MP0002557_abnormal_social/conspecific_i1.65718026
33MP0004811_abnormal_neuron_physiology1.65594602
34MP0001188_hyperpigmentation1.61685768
35MP0003879_abnormal_hair_cell1.52419149
36MP0003329_amyloid_beta_deposits1.48117645
37MP0002066_abnormal_motor_capabilities/c1.38060245
38MP0000955_abnormal_spinal_cord1.37992659
39MP0003787_abnormal_imprinting1.34506407
40MP0004142_abnormal_muscle_tone1.33830085
41MP0000778_abnormal_nervous_system1.32845496
42MP0006276_abnormal_autonomic_nervous1.32700608
43MP0004858_abnormal_nervous_system1.30722788
44MP0002882_abnormal_neuron_morphology1.27675676
45MP0003633_abnormal_nervous_system1.25047739
46MP0001905_abnormal_dopamine_level1.24018709
47MP0008877_abnormal_DNA_methylation1.22731509
48MP0000013_abnormal_adipose_tissue1.13627535
49MP0006035_abnormal_mitochondrial_morpho1.07564006
50MP0008874_decreased_physiological_sensi1.07023336
51MP0008872_abnormal_physiological_respon1.06495927
52MP0004885_abnormal_endolymph1.05559123
53MP0003631_nervous_system_phenotype1.04868477
54MP0001502_abnormal_circadian_rhythm1.04480499
55MP0000751_myopathy1.02783791
56MP0005187_abnormal_penis_morphology1.01303990
57MP0005409_darkened_coat_color0.98898031
58MP0002837_dystrophic_cardiac_calcinosis0.96270046
59MP0001299_abnormal_eye_distance/0.95653441
60MP0004085_abnormal_heartbeat0.93666740
61MP0001177_atelectasis0.92598805
62MP0002152_abnormal_brain_morphology0.92585764
63MP0002229_neurodegeneration0.91184878
64MP0003122_maternal_imprinting0.90155467
65MP0003075_altered_response_to0.90130020
66MP0004145_abnormal_muscle_electrophysio0.88848334
67MP0005551_abnormal_eye_electrophysiolog0.88679390
68MP0002069_abnormal_eating/drinking_beha0.88611345
69MP0005645_abnormal_hypothalamus_physiol0.86989288
70MP0000569_abnormal_digit_pigmentation0.86895393
71MP0010386_abnormal_urinary_bladder0.82672856
72MP0005535_abnormal_body_temperature0.82588941
73MP0008875_abnormal_xenobiotic_pharmacok0.82386034
74MP0003123_paternal_imprinting0.81416946
75MP0002090_abnormal_vision0.80092492
76* MP0003137_abnormal_impulse_conducting0.79777543
77MP0004742_abnormal_vestibular_system0.78623840
78MP0004215_abnormal_myocardial_fiber0.77944555
79MP0002876_abnormal_thyroid_physiology0.77339873
80MP0003283_abnormal_digestive_organ0.77203342
81MP0005253_abnormal_eye_physiology0.76553148
82MP0006072_abnormal_retinal_apoptosis0.76449010
83MP0004484_altered_response_of0.74968681
84MP0003121_genomic_imprinting0.74543935
85MP0001963_abnormal_hearing_physiology0.70622745
86MP0003950_abnormal_plasma_membrane0.70321566
87MP0003632_abnormal_nervous_system0.69590544
88MP0003634_abnormal_glial_cell0.68533667
89MP0005394_taste/olfaction_phenotype0.68236276
90MP0005499_abnormal_olfactory_system0.68236276
91MP0008961_abnormal_basal_metabolism0.68167976
92MP0000920_abnormal_myelination0.67943480
93MP0004147_increased_porphyrin_level0.67783145
94MP0003690_abnormal_glial_cell0.66827707
95MP0000604_amyloidosis0.64767860
96MP0001664_abnormal_digestion0.64293710
97MP0002102_abnormal_ear_morphology0.63609201
98MP0002752_abnormal_somatic_nervous0.63355759
99MP0005167_abnormal_blood-brain_barrier0.62089051
100MP0003011_delayed_dark_adaptation0.61811639
101MP0000003_abnormal_adipose_tissue0.60271226
102MP0004084_abnormal_cardiac_muscle0.59662154
103MP0001986_abnormal_taste_sensitivity0.58070123
104MP0000631_abnormal_neuroendocrine_gland0.57568702
105MP0001346_abnormal_lacrimal_gland0.57168819
106MP0004233_abnormal_muscle_weight0.56131885
107MP0001485_abnormal_pinna_reflex0.55812151
108MP0005171_absent_coat_pigmentation0.55322093
109MP0005174_abnormal_tail_pigmentation0.54351513
110MP0005623_abnormal_meninges_morphology0.53763296
111MP0003646_muscle_fatigue0.53671442
112MP0004043_abnormal_pH_regulation0.52646067
113MP0004036_abnormal_muscle_relaxation0.52192370
114MP0001943_abnormal_respiration0.50756676
115MP0002638_abnormal_pupillary_reflex0.49909235
116MP0003183_abnormal_peptide_metabolism0.49165171
117MP0005620_abnormal_muscle_contractility0.48601953
118MP0003956_abnormal_body_size0.45713361

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.28987707
2Myokymia (HP:0002411)8.02498237
3Focal seizures (HP:0007359)6.30575703
4Febrile seizures (HP:0002373)5.40913815
5Atonic seizures (HP:0010819)5.39971789
6Epileptic encephalopathy (HP:0200134)5.02984225
7Visual hallucinations (HP:0002367)4.82305313
8Absence seizures (HP:0002121)4.70553789
9Progressive cerebellar ataxia (HP:0002073)4.37649921
10Dialeptic seizures (HP:0011146)4.34100957
11Action tremor (HP:0002345)4.26200686
12Generalized tonic-clonic seizures (HP:0002069)4.18280064
13Gaze-evoked nystagmus (HP:0000640)3.81971723
14Dysdiadochokinesis (HP:0002075)3.72811160
15Broad-based gait (HP:0002136)3.67025014
16Impaired vibration sensation in the lower limbs (HP:0002166)3.52545981
17Hyperventilation (HP:0002883)3.51864184
18Poor eye contact (HP:0000817)3.46451110
19Anxiety (HP:0000739)3.45925987
20Postural tremor (HP:0002174)3.40406310
21Annular pancreas (HP:0001734)3.34376481
22Depression (HP:0000716)3.31463974
23Dysmetria (HP:0001310)3.27892642
24Degeneration of the lateral corticospinal tracts (HP:0002314)3.27301155
25Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.27301155
26Truncal ataxia (HP:0002078)3.24895422
27Torticollis (HP:0000473)3.21600781
28Scanning speech (HP:0002168)3.21145749
29Abnormality of the corticospinal tract (HP:0002492)3.18798669
30Abnormal social behavior (HP:0012433)3.18577456
31Impaired social interactions (HP:0000735)3.18577456
32Resting tremor (HP:0002322)3.11098120
33Ankle clonus (HP:0011448)3.08664230
34Abnormal eating behavior (HP:0100738)2.97292905
35Dysmetric saccades (HP:0000641)2.96769649
36Focal dystonia (HP:0004373)2.94708122
37Urinary bladder sphincter dysfunction (HP:0002839)2.88650749
38Supranuclear gaze palsy (HP:0000605)2.85690159
39Impaired smooth pursuit (HP:0007772)2.83601400
40Amblyopia (HP:0000646)2.81205919
41Craniofacial dystonia (HP:0012179)2.72412806
42Abnormality of binocular vision (HP:0011514)2.72034531
43Diplopia (HP:0000651)2.72034531
44Progressive inability to walk (HP:0002505)2.69913795
45Postural instability (HP:0002172)2.65454995
46Urinary urgency (HP:0000012)2.57733812
47Stereotypic behavior (HP:0000733)2.55516173
48Hemiparesis (HP:0001269)2.49384417
49Pheochromocytoma (HP:0002666)2.46907052
50Status epilepticus (HP:0002133)2.46117965
51Bradykinesia (HP:0002067)2.44189731
52Impaired vibratory sensation (HP:0002495)2.44037822
53Abnormality of ocular smooth pursuit (HP:0000617)2.41636927
54Epileptiform EEG discharges (HP:0011182)2.40405436
55Abnormality of the lower motor neuron (HP:0002366)2.38478772
56Fetal akinesia sequence (HP:0001989)2.35685768
57Hemiplegia (HP:0002301)2.31183905
58Incomplete penetrance (HP:0003829)2.28156663
59Spastic gait (HP:0002064)2.27194669
60Genetic anticipation (HP:0003743)2.26873502
61Intention tremor (HP:0002080)2.26005510
62Neuroendocrine neoplasm (HP:0100634)2.23970514
63EEG with generalized epileptiform discharges (HP:0011198)2.23217812
64Akinesia (HP:0002304)2.21499087
65Excessive salivation (HP:0003781)2.20071805
66Drooling (HP:0002307)2.20071805
67Mutism (HP:0002300)2.15033518
68Pointed chin (HP:0000307)2.13873578
69Insidious onset (HP:0003587)2.11369173
70Termporal pattern (HP:0011008)2.11369173
71Morphological abnormality of the pyramidal tract (HP:0002062)2.09545640
72Inability to walk (HP:0002540)2.08616269
73Hypsarrhythmia (HP:0002521)2.06787703
74Limb dystonia (HP:0002451)2.06162483
75Absent speech (HP:0001344)2.06122929
76Papilledema (HP:0001085)2.03734923
77Lower limb amyotrophy (HP:0007210)2.03016178
78Cerebral hypomyelination (HP:0006808)2.02823572
79Ventricular fibrillation (HP:0001663)2.02815471
80Neuronal loss in central nervous system (HP:0002529)2.02644274
81Progressive macrocephaly (HP:0004481)2.02209020
82Lower limb muscle weakness (HP:0007340)2.01469415
83Abnormal EKG (HP:0003115)2.00770852
84Gait ataxia (HP:0002066)2.00535464
85Generalized myoclonic seizures (HP:0002123)2.00208354
86Abnormality of saccadic eye movements (HP:0000570)1.99769408
87Prolonged QT interval (HP:0001657)1.99105009
88Lower limb asymmetry (HP:0100559)1.98635031
89Spinal canal stenosis (HP:0003416)1.87082923
90Cerebral inclusion bodies (HP:0100314)1.86131223
91Blue irides (HP:0000635)1.85753220
92Ankyloglossia (HP:0010296)1.85664916
93Impaired pain sensation (HP:0007328)1.84628800
94Abnormality of pain sensation (HP:0010832)1.84628800
95Megalencephaly (HP:0001355)1.82474758
96Neurofibrillary tangles (HP:0002185)1.82063126
97Gait imbalance (HP:0002141)1.81558275
98Acute necrotizing encephalopathy (HP:0006965)1.80470413
99Esotropia (HP:0000565)1.80388626
100Specific learning disability (HP:0001328)1.79687136
101Neoplasm of the peripheral nervous system (HP:0100007)1.78121566
102Limb ataxia (HP:0002070)1.77107175
103Sleep apnea (HP:0010535)1.77032677
104Psychosis (HP:0000709)1.76956359
105Congenital primary aphakia (HP:0007707)1.76559576
106Delusions (HP:0000746)1.76069125
107Clonus (HP:0002169)1.75937505
108Medial flaring of the eyebrow (HP:0010747)1.74262669
109Polyphagia (HP:0002591)1.73356747
110Syncope (HP:0001279)1.72660002
111Failure to thrive in infancy (HP:0001531)1.67678957
112Spastic tetraplegia (HP:0002510)1.67023758
113Protruding tongue (HP:0010808)1.66906732
114Rigidity (HP:0002063)1.66545885
115Dysarthria (HP:0001260)1.65654173
116Iris hypopigmentation (HP:0007730)1.65215092
117Horizontal nystagmus (HP:0000666)1.65086278
118Slow progression (HP:0003677)1.61946220
119Abnormal mitochondria in muscle tissue (HP:0008316)1.59946163
120Nephrogenic diabetes insipidus (HP:0009806)1.58206875
121Poor suck (HP:0002033)1.55502922
122CNS hypomyelination (HP:0003429)1.55286699
123Unsteady gait (HP:0002317)1.54774167
124Tetraplegia (HP:0002445)1.53813721
125Global brain atrophy (HP:0002283)1.50875357

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.92259815
2NTRK34.55600357
3MAP3K93.39192741
4RIPK43.19110847
5MAP3K42.83071478
6MINK12.64065267
7MAP2K72.59087449
8DAPK22.44778756
9CASK2.28845997
10KSR22.27196860
11MAP3K122.17878864
12CAMKK11.89255065
13PRKD31.85557321
14ARAF1.82085080
15KSR11.80830386
16MAP2K41.80273649
17DAPK11.77258334
18FRK1.68334587
19CAMKK21.68248142
20NTRK11.64756612
21PAK61.60575173
22NTRK21.59981723
23PAK31.59555536
24FES1.58153686
25MARK11.58146754
26PRPF4B1.55448648
27CSNK1G21.53978858
28MAP3K131.50081600
29CDK51.47853739
30PLK21.44808517
31BMPR21.36545324
32TNIK1.36346188
33GRK51.31457083
34TRIM281.29631011
35MYLK1.23594958
36PRKCG1.23403362
37MAP4K21.21514401
38CDK191.19802858
39STK381.17469234
40MAP3K21.12310139
41PINK11.11652885
42CSNK1A1L1.11190044
43SIK21.10802491
44SGK4941.09902963
45SGK2231.09902963
46PTK2B1.08047497
47CSNK1G31.07175714
48SIK31.06294455
49SGK21.06226037
50CAMK2A1.00670017
51CSNK1G10.99893239
52RAF10.99528348
53CAMK2B0.96372804
54WNK30.93911410
55MAPK130.88444706
56CDK180.86381872
57TAOK10.85173407
58LIMK10.83272460
59SGK30.80792412
60PRKCH0.80222717
61CAMK10.80101407
62CDK140.80022097
63CDK150.79788011
64AKT30.78551558
65SGK10.76483584
66ERBB30.76111707
67TNK20.75163869
68PRKG10.73849653
69PNCK0.73407976
70STK390.71031731
71NEK10.70543322
72STK110.68919230
73TYRO30.67951601
74CDK11A0.67562818
75PDK10.67108184
76PDPK10.66847363
77LMTK20.64774275
78OXSR10.64642641
79UHMK10.63981161
80WNK10.63637078
81RET0.63393711
82MAP3K10.63218833
83PKN10.63134734
84PRKCE0.62491713
85BMPR1B0.61186488
86NME10.58426657
87CAMK2D0.58378158
88BRAF0.56843149
89MAP2K10.55743877
90MAPK120.55307196
91GRK10.54869086
92CAMK2G0.53992113
93PHKG10.53114746
94PHKG20.53114746
95MARK20.52696705
96NEK60.50348338
97DYRK1A0.49187341
98FER0.48648918
99RPS6KA30.48438454
100PDK30.46259639
101PDK40.46259639
102INSRR0.46220541
103CSNK1D0.45545915
104PRKCZ0.44322068
105FYN0.44268764
106DAPK30.44065814
107CCNB10.42100731
108MAPKAPK50.41701335
109MAPK100.41387794
110LATS20.41266787
111BCR0.40526070
112TIE10.39743636
113CDC42BPA0.39176827
114EIF2AK30.38860398
115CAMK40.38290450
116PRKACA0.37603085
117PRKCB0.36343876
118CSNK1E0.35238449
119MKNK20.34513633
120PRKCA0.33463484
121ALK0.32450852
122MUSK0.32281880
123ROCK20.30956249
124CSNK1A10.29958380
125MOS0.29049267

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.84923614
2Synaptic vesicle cycle_Homo sapiens_hsa047213.27289347
3Olfactory transduction_Homo sapiens_hsa047403.18434063
4Morphine addiction_Homo sapiens_hsa050322.84478014
5GABAergic synapse_Homo sapiens_hsa047272.82064369
6Long-term potentiation_Homo sapiens_hsa047202.82053395
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.80294130
8Circadian entrainment_Homo sapiens_hsa047132.77619875
9Amphetamine addiction_Homo sapiens_hsa050312.67062090
10Glutamatergic synapse_Homo sapiens_hsa047242.58399055
11Dopaminergic synapse_Homo sapiens_hsa047282.31362821
12Salivary secretion_Homo sapiens_hsa049702.20685719
13Taste transduction_Homo sapiens_hsa047421.99500956
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.97653047
15Cholinergic synapse_Homo sapiens_hsa047251.93290291
16Cocaine addiction_Homo sapiens_hsa050301.86441080
17Insulin secretion_Homo sapiens_hsa049111.85322257
18Renin secretion_Homo sapiens_hsa049241.84817641
19Collecting duct acid secretion_Homo sapiens_hsa049661.83221512
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78519211
21Calcium signaling pathway_Homo sapiens_hsa040201.77423655
22Long-term depression_Homo sapiens_hsa047301.75747758
23Gastric acid secretion_Homo sapiens_hsa049711.75277122
24Serotonergic synapse_Homo sapiens_hsa047261.74284445
25Oxytocin signaling pathway_Homo sapiens_hsa049211.66712906
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.58620621
27Gap junction_Homo sapiens_hsa045401.40164116
28GnRH signaling pathway_Homo sapiens_hsa049121.34558960
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34133142
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32913307
31cAMP signaling pathway_Homo sapiens_hsa040241.28372502
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22378295
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18788127
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.16032210
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.15987764
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07527461
37Vibrio cholerae infection_Homo sapiens_hsa051101.06940506
38Phototransduction_Homo sapiens_hsa047441.03075229
39Glioma_Homo sapiens_hsa052141.02862674
40Vascular smooth muscle contraction_Homo sapiens_hsa042701.00449583
41Cardiac muscle contraction_Homo sapiens_hsa042601.00102982
42Estrogen signaling pathway_Homo sapiens_hsa049150.98336057
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97813786
44Type II diabetes mellitus_Homo sapiens_hsa049300.94993224
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.90303768
46Melanogenesis_Homo sapiens_hsa049160.88715995
47Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.86660892
48ErbB signaling pathway_Homo sapiens_hsa040120.84686157
49Pancreatic secretion_Homo sapiens_hsa049720.84550757
50Oocyte meiosis_Homo sapiens_hsa041140.84224657
51Axon guidance_Homo sapiens_hsa043600.80942752
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.80490817
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79682995
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78111000
55Thyroid hormone synthesis_Homo sapiens_hsa049180.75339451
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.75311950
57Dilated cardiomyopathy_Homo sapiens_hsa054140.69752813
58Type I diabetes mellitus_Homo sapiens_hsa049400.66834828
59MAPK signaling pathway_Homo sapiens_hsa040100.64055955
60Vitamin B6 metabolism_Homo sapiens_hsa007500.63296092
61Choline metabolism in cancer_Homo sapiens_hsa052310.62258527
62Alzheimers disease_Homo sapiens_hsa050100.62255860
63Dorso-ventral axis formation_Homo sapiens_hsa043200.62151682
64Rap1 signaling pathway_Homo sapiens_hsa040150.60221154
65Regulation of autophagy_Homo sapiens_hsa041400.60037939
66Alcoholism_Homo sapiens_hsa050340.59601493
67Protein export_Homo sapiens_hsa030600.56228045
68Glucagon signaling pathway_Homo sapiens_hsa049220.54935816
69Ras signaling pathway_Homo sapiens_hsa040140.51563208
70Huntingtons disease_Homo sapiens_hsa050160.50564876
71Mineral absorption_Homo sapiens_hsa049780.50081179
72Inositol phosphate metabolism_Homo sapiens_hsa005620.49644889
73Oxidative phosphorylation_Homo sapiens_hsa001900.49358569
74Parkinsons disease_Homo sapiens_hsa050120.49314263
75VEGF signaling pathway_Homo sapiens_hsa043700.49231504
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48987797
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48073090
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.47718826
79Neurotrophin signaling pathway_Homo sapiens_hsa047220.47614566
80Butanoate metabolism_Homo sapiens_hsa006500.47457410
81African trypanosomiasis_Homo sapiens_hsa051430.47231204
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46684516
83Non-small cell lung cancer_Homo sapiens_hsa052230.46496891
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46073360
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44228479
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43201652
87Nitrogen metabolism_Homo sapiens_hsa009100.43025537
88Ether lipid metabolism_Homo sapiens_hsa005650.42701085
89Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41570738
90Circadian rhythm_Homo sapiens_hsa047100.41422844
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.40555953
92Rheumatoid arthritis_Homo sapiens_hsa053230.39531504
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38898197
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38355536
95Fatty acid biosynthesis_Homo sapiens_hsa000610.38000386
96mTOR signaling pathway_Homo sapiens_hsa041500.36536968
97beta-Alanine metabolism_Homo sapiens_hsa004100.35646411
98Bile secretion_Homo sapiens_hsa049760.35509734
99Endocytosis_Homo sapiens_hsa041440.35341250
100Chemokine signaling pathway_Homo sapiens_hsa040620.34476546
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31704897
102Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.28582470
103Prion diseases_Homo sapiens_hsa050200.28219759
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28014487
105Tight junction_Homo sapiens_hsa045300.26822853
106Glycerolipid metabolism_Homo sapiens_hsa005610.26654328
107Ovarian steroidogenesis_Homo sapiens_hsa049130.26119899
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25976657
109Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25891439
110SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25136106
111Insulin signaling pathway_Homo sapiens_hsa049100.24705788
112Histidine metabolism_Homo sapiens_hsa003400.23904897
113Wnt signaling pathway_Homo sapiens_hsa043100.23751522
114Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.23315698
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.21530395
116Hippo signaling pathway_Homo sapiens_hsa043900.21326166
117Endometrial cancer_Homo sapiens_hsa052130.20099225
118Arginine and proline metabolism_Homo sapiens_hsa003300.18991649
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.18088634
120Propanoate metabolism_Homo sapiens_hsa006400.15365778

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