CHRNA4

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 nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1glutamate secretion (GO:0014047)5.76699002
2synaptic vesicle exocytosis (GO:0016079)5.56743357
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.30492645
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.28925538
5postsynaptic membrane organization (GO:0001941)5.25707588
6vocalization behavior (GO:0071625)5.19861077
7neuron cell-cell adhesion (GO:0007158)5.09904635
8histone H3-K4 trimethylation (GO:0080182)5.03935444
9synaptic vesicle maturation (GO:0016188)4.85171852
10detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.58706660
11neurotransmitter secretion (GO:0007269)4.50438875
12transcytosis (GO:0045056)4.41422847
13membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.33725623
14presynaptic membrane assembly (GO:0097105)4.29599207
15presynaptic membrane organization (GO:0097090)4.23646848
16dopamine biosynthetic process (GO:0042416)4.22703710
17regulation of synaptic vesicle exocytosis (GO:2000300)4.17111342
18locomotory exploration behavior (GO:0035641)4.11898637
19positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.11650213
20regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.05950077
21mating behavior (GO:0007617)4.05082592
22dopamine transport (GO:0015872)4.01619095
23dendritic spine morphogenesis (GO:0060997)3.94363522
24establishment of mitochondrion localization (GO:0051654)3.86062804
25protein localization to synapse (GO:0035418)3.85315010
26gamma-aminobutyric acid transport (GO:0015812)3.82168270
27regulation of long-term neuronal synaptic plasticity (GO:0048169)3.78106847
28prepulse inhibition (GO:0060134)3.77355129
29neuron recognition (GO:0008038)3.76708344
30regulation of glutamate receptor signaling pathway (GO:1900449)3.76170648
31neurotransmitter transport (GO:0006836)3.73655993
32catecholamine transport (GO:0051937)3.69598447
33regulation of neurotransmitter levels (GO:0001505)3.66529522
34negative regulation of microtubule polymerization (GO:0031115)3.66379564
35regulation of synaptic vesicle transport (GO:1902803)3.65396732
36neuronal ion channel clustering (GO:0045161)3.61079306
37ionotropic glutamate receptor signaling pathway (GO:0035235)3.58249795
38* regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.58021910
39layer formation in cerebral cortex (GO:0021819)3.56838231
40axonal fasciculation (GO:0007413)3.53197556
41cell fate commitment involved in formation of primary germ layer (GO:0060795)3.52643792
42regulation of neuronal synaptic plasticity (GO:0048168)3.52414135
43pyrimidine nucleobase catabolic process (GO:0006208)3.45495637
44gap junction assembly (GO:0016264)3.44956260
45* exploration behavior (GO:0035640)3.44612653
46regulation of synapse structural plasticity (GO:0051823)3.44504752
47negative regulation of synaptic transmission, GABAergic (GO:0032229)3.44251123
48positive regulation of dendritic spine development (GO:0060999)3.43911787
49synaptic vesicle docking involved in exocytosis (GO:0016081)3.43691236
50membrane depolarization during action potential (GO:0086010)3.43618633
51central nervous system projection neuron axonogenesis (GO:0021952)3.42965463
52positive regulation of dendritic spine morphogenesis (GO:0061003)3.41464270
53neurofilament cytoskeleton organization (GO:0060052)3.40124012
54long-term memory (GO:0007616)3.37618626
55auditory behavior (GO:0031223)3.35592070
56neuron-neuron synaptic transmission (GO:0007270)3.35172932
57regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.35018600
58mitochondrion transport along microtubule (GO:0047497)3.34663714
59establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.34663714
60regulation of dopamine metabolic process (GO:0042053)3.32609233
61regulation of catecholamine metabolic process (GO:0042069)3.32609233
62positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.32298881
63neuronal action potential propagation (GO:0019227)3.30539769
64adult walking behavior (GO:0007628)3.29946057
65glutamate receptor signaling pathway (GO:0007215)3.28813127
66neurotransmitter biosynthetic process (GO:0042136)3.28147531
67cerebellar Purkinje cell layer development (GO:0021680)3.26105480
68alkaloid metabolic process (GO:0009820)3.20558690
69regulation of vesicle fusion (GO:0031338)3.19119662
70cerebellar granule cell differentiation (GO:0021707)3.18518521
71synaptic transmission, glutamatergic (GO:0035249)3.18332744
72behavioral response to cocaine (GO:0048148)3.16586804
73positive regulation of neurotransmitter transport (GO:0051590)3.16243351
74positive regulation of T cell cytokine production (GO:0002726)3.15530585
75proline transport (GO:0015824)3.15082199
76regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.12262662
77synaptic vesicle endocytosis (GO:0048488)3.12047914
78neuromuscular synaptic transmission (GO:0007274)3.10745191
79cerebellar Purkinje cell differentiation (GO:0021702)3.08408156
80* membrane depolarization (GO:0051899)3.07198053
81regulation of dendritic spine morphogenesis (GO:0061001)3.06804174
82regulation of neurotransmitter secretion (GO:0046928)3.06544738
83regulation of respiratory system process (GO:0044065)3.02950132
84neurotransmitter metabolic process (GO:0042133)3.00525486
85negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.98158735
86axon extension (GO:0048675)2.98014873
87cellular potassium ion homeostasis (GO:0030007)2.96963885
88neurotransmitter-gated ion channel clustering (GO:0072578)2.96657553
89cellular ketone body metabolic process (GO:0046950)2.95691745
90gamma-aminobutyric acid signaling pathway (GO:0007214)2.95579150
91innervation (GO:0060384)2.90523069
92neuromuscular process controlling posture (GO:0050884)2.90287826
93response to auditory stimulus (GO:0010996)2.90032201
94adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.89188904
95synaptic vesicle transport (GO:0048489)2.86580656
96establishment of synaptic vesicle localization (GO:0097480)2.86580656
97activation of protein kinase A activity (GO:0034199)2.86406908
98response to pheromone (GO:0019236)2.86344986
99response to histamine (GO:0034776)2.86333933
100synapse assembly (GO:0007416)2.86252421
101regulation of neurotransmitter transport (GO:0051588)2.85786708
102sodium ion export (GO:0071436)2.84877623
103regulation of voltage-gated calcium channel activity (GO:1901385)2.84321509
104* membrane hyperpolarization (GO:0060081)2.83398207
105positive regulation of synapse assembly (GO:0051965)2.83165764
106response to amphetamine (GO:0001975)2.83155285
107regulation of synapse maturation (GO:0090128)2.83071075
108regulation of respiratory gaseous exchange (GO:0043576)2.81930522
109regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.81385306
110startle response (GO:0001964)2.81235541
111positive regulation of synapse maturation (GO:0090129)2.80112936
112axon ensheathment in central nervous system (GO:0032291)2.79843429
113central nervous system myelination (GO:0022010)2.79843429
114nucleobase catabolic process (GO:0046113)2.79236757
115regulation of excitatory postsynaptic membrane potential (GO:0060079)2.78962668
116short-term memory (GO:0007614)2.78587514
117synaptic transmission, dopaminergic (GO:0001963)2.78175315
118positive regulation of neurotransmitter secretion (GO:0001956)2.77671259
119* regulation of postsynaptic membrane potential (GO:0060078)2.76857697
120cell differentiation in hindbrain (GO:0021533)2.76820096
121neuromuscular process controlling balance (GO:0050885)2.76140306
122glutamate metabolic process (GO:0006536)2.76108470
123learning (GO:0007612)2.74962583
124positive regulation of membrane potential (GO:0045838)2.73185462
125synapse organization (GO:0050808)2.72759215
126G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.72225729
127regulation of synaptic transmission, glutamatergic (GO:0051966)2.71597316
128transmission of nerve impulse (GO:0019226)2.71039270
129dendrite morphogenesis (GO:0048813)2.70834094
130response to cocaine (GO:0042220)2.70000332
131cell migration in hindbrain (GO:0021535)2.69052202
132mechanosensory behavior (GO:0007638)2.68463427
133receptor clustering (GO:0043113)2.68208995
134response to insecticide (GO:0017085)2.67961667
135axon regeneration (GO:0031103)2.67942080
136ethanol oxidation (GO:0006069)2.65759935
137social behavior (GO:0035176)2.65737276
138intraspecies interaction between organisms (GO:0051703)2.65737276

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.08051817
2GBX2_23144817_ChIP-Seq_PC3_Human3.38823941
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.26953785
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.93594198
5* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.87285476
6* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.76234465
7REST_21632747_ChIP-Seq_MESCs_Mouse2.54709977
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44050450
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44050450
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.41730013
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.39284196
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.39217317
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.38867969
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.38817268
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.38252282
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36447981
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.31384592
18* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.23097072
19DROSHA_22980978_ChIP-Seq_HELA_Human2.21860983
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.19744020
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19272426
22TAF15_26573619_Chip-Seq_HEK293_Human2.17054893
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.05273257
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.04622118
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03239142
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.01729278
27RARB_27405468_Chip-Seq_BRAIN_Mouse1.91230440
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87851684
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.86015507
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76728607
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.67306605
32AR_21572438_ChIP-Seq_LNCaP_Human1.66113576
33ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.56281255
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55706627
35ZNF274_21170338_ChIP-Seq_K562_Hela1.52045451
36SMAD4_21799915_ChIP-Seq_A2780_Human1.49874976
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.47502390
38NR3C1_23031785_ChIP-Seq_PC12_Mouse1.45857104
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.43416709
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41271387
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.41028942
42PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.40598550
43IGF1R_20145208_ChIP-Seq_DFB_Human1.40580657
44ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40440365
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36716921
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35203775
47TP53_16413492_ChIP-PET_HCT116_Human1.34627036
48* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.33050575
49CBX2_27304074_Chip-Seq_ESCs_Mouse1.33007832
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.32675982
51BCAT_22108803_ChIP-Seq_LS180_Human1.31746359
52HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.29630856
53STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.26950851
54P300_19829295_ChIP-Seq_ESCs_Human1.26257200
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.25906700
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.23662748
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23003969
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.22883421
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.22323156
60AR_25329375_ChIP-Seq_VCAP_Human1.21983653
61TP53_20018659_ChIP-ChIP_R1E_Mouse1.20132461
62* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18221056
63AR_19668381_ChIP-Seq_PC3_Human1.17834449
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17829058
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17634087
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.16814274
67RNF2_27304074_Chip-Seq_NSC_Mouse1.14145070
68AHR_22903824_ChIP-Seq_MCF-7_Human1.13047850
69GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12529173
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.12138215
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11288163
72STAT3_23295773_ChIP-Seq_U87_Human1.10602408
73RING1B_27294783_Chip-Seq_NPCs_Mouse1.10220553
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.10121773
75THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07883736
76VDR_22108803_ChIP-Seq_LS180_Human1.06131189
77ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05646811
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04724836
79RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02749178
80TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00683349
81DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00526948
82* KDM2B_26808549_Chip-Seq_K562_Human0.99742251
83WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98931491
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98255792
85YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96822524
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96625568
87KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.94513228
88CTCF_27219007_Chip-Seq_Bcells_Human0.93419944
89GATA1_26923725_Chip-Seq_HPCs_Mouse0.91886229
90CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.91566411
91* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91512988
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90959557
93JUN_21703547_ChIP-Seq_K562_Human0.90533703
94P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90403065
95ELK4_26923725_Chip-Seq_MESODERM_Mouse0.90026053
96SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.89917136
97CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89808389
98* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.89143681
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88870659
100SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88723196
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.88335563
102LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87263007
103ZFP281_27345836_Chip-Seq_ESCs_Mouse0.86689647
104POU3F2_20337985_ChIP-ChIP_501MEL_Human0.85806750
105SMAD4_21741376_ChIP-Seq_HESCs_Human0.85284115
106NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85123472
107ZNF217_24962896_ChIP-Seq_MCF-7_Human0.83789798
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.83398901
109RUNX2_22187159_ChIP-Seq_PCA_Human0.83395438
110RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.82453250
111MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.81888713
112POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81878384
113TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81878384
114TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.80431076
115GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.80318735
116RXR_22158963_ChIP-Seq_LIVER_Mouse0.79868676
117TCF4_23295773_ChIP-Seq_U87_Human0.79655848
118FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.77595990
119MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.75787839

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.03346858
2MP0004859_abnormal_synaptic_plasticity5.00152933
3* MP0003635_abnormal_synaptic_transmissio3.52471042
4MP0002139_abnormal_hepatobiliary_system3.51741759
5MP0001968_abnormal_touch/_nociception2.90431828
6MP0005423_abnormal_somatic_nervous2.81193645
7* MP0009745_abnormal_behavioral_response2.76833791
8MP0006276_abnormal_autonomic_nervous2.75345141
9* MP0002064_seizures2.72081280
10MP0002736_abnormal_nociception_after2.65930305
11MP0009046_muscle_twitch2.65291744
12* MP0002063_abnormal_learning/memory/cond2.64038523
13MP0004270_analgesia2.61818737
14MP0002822_catalepsy2.61601134
15MP0002734_abnormal_mechanical_nocicepti2.43943511
16MP0003122_maternal_imprinting2.42683051
17MP0001486_abnormal_startle_reflex2.42127121
18* MP0002572_abnormal_emotion/affect_behav2.29101302
19MP0001905_abnormal_dopamine_level2.13262922
20* MP0002272_abnormal_nervous_system2.10444800
21MP0002733_abnormal_thermal_nociception2.10240484
22MP0003252_abnormal_bile_duct2.07561079
23MP0002909_abnormal_adrenal_gland1.84754896
24MP0001529_abnormal_vocalization1.82178836
25MP0005386_behavior/neurological_phenoty1.81917034
26MP0004924_abnormal_behavior1.81917034
27MP0000778_abnormal_nervous_system1.78903947
28MP0002067_abnormal_sensory_capabilities1.77795597
29* MP0001440_abnormal_grooming_behavior1.74580039
30MP0001501_abnormal_sleep_pattern1.73705227
31* MP0001970_abnormal_pain_threshold1.68607837
32MP0003787_abnormal_imprinting1.68108223
33MP0002735_abnormal_chemical_nociception1.68016460
34MP0002557_abnormal_social/conspecific_i1.67197722
35MP0003300_gastrointestinal_ulcer1.57415472
36MP0002184_abnormal_innervation1.57275990
37MP0003329_amyloid_beta_deposits1.56689301
38MP0003879_abnormal_hair_cell1.52389895
39MP0004885_abnormal_endolymph1.52150041
40MP0009780_abnormal_chondrocyte_physiolo1.47314221
41MP0005360_urolithiasis1.46983477
42MP0004142_abnormal_muscle_tone1.45753876
43MP0004233_abnormal_muscle_weight1.45431515
44MP0004811_abnormal_neuron_physiology1.40304862
45MP0005085_abnormal_gallbladder_physiolo1.40258415
46MP0003123_paternal_imprinting1.36590665
47MP0001664_abnormal_digestion1.34666622
48MP0008872_abnormal_physiological_respon1.32410367
49MP0005646_abnormal_pituitary_gland1.30086443
50MP0008877_abnormal_DNA_methylation1.25428779
51MP0006292_abnormal_olfactory_placode1.24936116
52MP0004742_abnormal_vestibular_system1.22116515
53* MP0002066_abnormal_motor_capabilities/c1.22109778
54MP0002009_preneoplasia1.20260027
55MP0004858_abnormal_nervous_system1.19958349
56MP0001984_abnormal_olfaction1.19708479
57MP0002102_abnormal_ear_morphology1.19304168
58MP0008569_lethality_at_weaning1.17590257
59* MP0002882_abnormal_neuron_morphology1.14854560
60MP0002928_abnormal_bile_duct1.14534445
61MP0000955_abnormal_spinal_cord1.13289170
62MP0001986_abnormal_taste_sensitivity1.12989290
63MP0000566_synostosis1.09997623
64MP0001502_abnormal_circadian_rhythm1.09996390
65MP0003283_abnormal_digestive_organ1.07319224
66MP0002638_abnormal_pupillary_reflex1.02767523
67MP0001485_abnormal_pinna_reflex1.02296726
68MP0002876_abnormal_thyroid_physiology0.97988723
69MP0002653_abnormal_ependyma_morphology0.97421639
70MP0002837_dystrophic_cardiac_calcinosis0.97312276
71MP0000631_abnormal_neuroendocrine_gland0.96381424
72MP0003861_abnormal_nervous_system0.95807987
73MP0000751_myopathy0.94686005
74MP0005535_abnormal_body_temperature0.94532943
75MP0008961_abnormal_basal_metabolism0.94183522
76MP0005083_abnormal_biliary_tract0.93620413
77MP0005551_abnormal_eye_electrophysiolog0.93351348
78MP0003938_abnormal_ear_development0.92198093
79MP0005645_abnormal_hypothalamus_physiol0.91300612
80MP0004883_abnormal_blood_vessel0.91135099
81MP0002069_abnormal_eating/drinking_beha0.90939184
82MP0004133_heterotaxia0.89524657
83MP0008875_abnormal_xenobiotic_pharmacok0.89068900
84* MP0002152_abnormal_brain_morphology0.87608920
85MP0004145_abnormal_muscle_electrophysio0.86858764
86MP0000026_abnormal_inner_ear0.82735127
87MP0003890_abnormal_embryonic-extraembry0.82733964
88MP0000604_amyloidosis0.79316074
89MP0001764_abnormal_homeostasis0.78809963
90MP0003121_genomic_imprinting0.77108360
91MP0008874_decreased_physiological_sensi0.76897672
92MP0001177_atelectasis0.76550464
93MP0002229_neurodegeneration0.76223617
94MP0000569_abnormal_digit_pigmentation0.74910367
95MP0003632_abnormal_nervous_system0.74578966
96MP0010234_abnormal_vibrissa_follicle0.73985295
97MP0003866_abnormal_defecation0.73877016
98MP0005187_abnormal_penis_morphology0.73479655
99MP0005365_abnormal_bile_salt0.72771622
100* MP0003633_abnormal_nervous_system0.72579094
101MP0000049_abnormal_middle_ear0.72557121
102MP0005248_abnormal_Harderian_gland0.71405639
103MP0005499_abnormal_olfactory_system0.70975158
104MP0005394_taste/olfaction_phenotype0.70975158
105MP0001963_abnormal_hearing_physiology0.69393692
106MP0001188_hyperpigmentation0.69167294
107MP0002090_abnormal_vision0.69097187
108* MP0003631_nervous_system_phenotype0.68788880
109MP0010386_abnormal_urinary_bladder0.67425746
110MP0004130_abnormal_muscle_cell0.66311519
111MP0004043_abnormal_pH_regulation0.66146238
112MP0003195_calcinosis0.65894704
113MP0003868_abnormal_feces_composition0.65853407
114MP0003634_abnormal_glial_cell0.65570520
115MP0002751_abnormal_autonomic_nervous0.65561720
116MP0010770_preweaning_lethality0.63213625
117MP0002082_postnatal_lethality0.63213625
118MP0005332_abnormal_amino_acid0.63166904
119MP0003690_abnormal_glial_cell0.62765924
120MP0006035_abnormal_mitochondrial_morpho0.62732296
121MP0000920_abnormal_myelination0.62451942
122MP0005377_hearing/vestibular/ear_phenot0.61728040
123MP0003878_abnormal_ear_physiology0.61728040
124MP0002249_abnormal_larynx_morphology0.61487537
125MP0002752_abnormal_somatic_nervous0.60358552

Predicted human phenotypes

RankGene SetZ-score
1Limb dystonia (HP:0002451)5.83541733
2Focal motor seizures (HP:0011153)5.41231920
3Myokymia (HP:0002411)5.15079098
4Visual hallucinations (HP:0002367)4.84222459
5Pheochromocytoma (HP:0002666)4.50160611
6* Focal seizures (HP:0007359)4.40750066
7Hyperventilation (HP:0002883)4.40137909
8Neuroendocrine neoplasm (HP:0100634)3.82116525
9Progressive cerebellar ataxia (HP:0002073)3.50776874
10Epileptic encephalopathy (HP:0200134)3.37590885
11Generalized tonic-clonic seizures (HP:0002069)3.29761318
12Status epilepticus (HP:0002133)3.21629524
13Absence seizures (HP:0002121)3.11540270
14Volvulus (HP:0002580)3.10479848
15Agitation (HP:0000713)3.07880256
16Atonic seizures (HP:0010819)3.01192786
17Cerebral hemorrhage (HP:0001342)2.99908077
18Akinesia (HP:0002304)2.97950361
19Scanning speech (HP:0002168)2.95432430
20Broad-based gait (HP:0002136)2.85698866
21Polyphagia (HP:0002591)2.82591097
22Abnormal eating behavior (HP:0100738)2.82469587
23Diplopia (HP:0000651)2.82421682
24Abnormality of binocular vision (HP:0011514)2.82421682
25Sleep apnea (HP:0010535)2.81037212
26Supranuclear gaze palsy (HP:0000605)2.80874171
27Depression (HP:0000716)2.75670853
28Febrile seizures (HP:0002373)2.75580693
29Dialeptic seizures (HP:0011146)2.75452295
30Action tremor (HP:0002345)2.72580945
31Mutism (HP:0002300)2.72506617
32Torticollis (HP:0000473)2.72321167
33Truncal ataxia (HP:0002078)2.71791589
34Anxiety (HP:0000739)2.70879022
35Abnormality of proline metabolism (HP:0010907)2.69992095
36Hydroxyprolinuria (HP:0003080)2.69992095
37Cerebral inclusion bodies (HP:0100314)2.69444331
38Failure to thrive in infancy (HP:0001531)2.69265314
39Ankle clonus (HP:0011448)2.68159567
40Focal dystonia (HP:0004373)2.56219279
41Drooling (HP:0002307)2.55135215
42Excessive salivation (HP:0003781)2.55135215
43Gait imbalance (HP:0002141)2.52369220
44Craniofacial dystonia (HP:0012179)2.51263676
45Poor eye contact (HP:0000817)2.50727440
46Impaired social interactions (HP:0000735)2.49971918
47Abnormal social behavior (HP:0012433)2.49971918
48Neoplasm of the peripheral nervous system (HP:0100007)2.48448206
49Metabolic alkalosis (HP:0200114)2.48083391
50Abnormality of the labia minora (HP:0012880)2.47863063
51Dysdiadochokinesis (HP:0002075)2.47006193
52Abnormality of glutamine family amino acid metabolism (HP:0010902)2.45603487
53Neonatal onset (HP:0003623)2.45338245
54Spastic tetraplegia (HP:0002510)2.44213923
55Impaired vibration sensation in the lower limbs (HP:0002166)2.41165077
56Abnormality of the parathyroid morphology (HP:0011766)2.39024736
57Morphological abnormality of the pyramidal tract (HP:0002062)2.38616778
58Amblyopia (HP:0000646)2.37812478
59Intention tremor (HP:0002080)2.36802512
60Urinary urgency (HP:0000012)2.35965943
61Lissencephaly (HP:0001339)2.35417774
62Bradykinesia (HP:0002067)2.33353052
63Aplasia/Hypoplasia of the brainstem (HP:0007362)2.33312384
64Hypoplasia of the brainstem (HP:0002365)2.33312384
65Amyotrophic lateral sclerosis (HP:0007354)2.32135187
66Epileptiform EEG discharges (HP:0011182)2.31863298
67EEG with generalized epileptiform discharges (HP:0011198)2.29617285
68Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.27782078
69Degeneration of the lateral corticospinal tracts (HP:0002314)2.27782078
70Hepatoblastoma (HP:0002884)2.24887718
71Hypoventilation (HP:0002791)2.22783764
72Psychosis (HP:0000709)2.20007467
73Hypsarrhythmia (HP:0002521)2.18974585
74Hyperglycinuria (HP:0003108)2.18862366
75Postural instability (HP:0002172)2.18323695
76Papilledema (HP:0001085)2.17361694
77Spastic gait (HP:0002064)2.16862206
78Dysmetria (HP:0001310)2.16436600
79Progressive inability to walk (HP:0002505)2.16194661
80Abnormality of glycine metabolism (HP:0010895)2.15232540
81Abnormality of serine family amino acid metabolism (HP:0010894)2.15232540
82Retinal dysplasia (HP:0007973)2.14431768
83Pachygyria (HP:0001302)2.13364345
84Type II lissencephaly (HP:0007260)2.13191982
85Neurofibrillary tangles (HP:0002185)2.12407081
86Urinary bladder sphincter dysfunction (HP:0002839)2.09442611
87Ventricular fibrillation (HP:0001663)2.05595363
88Abnormality of the lower motor neuron (HP:0002366)2.05458002
89Abnormality of the corticospinal tract (HP:0002492)2.03531442
90Specific learning disability (HP:0001328)2.01749230
91Cortical dysplasia (HP:0002539)2.00036427
92Gastroesophageal reflux (HP:0002020)1.99949965
93Deep venous thrombosis (HP:0002625)1.97502646
94Absent speech (HP:0001344)1.97481119
95Potter facies (HP:0002009)1.97426320
96Facial shape deformation (HP:0011334)1.97426320
97Termporal pattern (HP:0011008)1.97185396
98Insidious onset (HP:0003587)1.97185396
99Postural tremor (HP:0002174)1.96543326
100Obsessive-compulsive behavior (HP:0000722)1.96350867
101Methylmalonic aciduria (HP:0012120)1.94408995
102Delayed gross motor development (HP:0002194)1.94000410
103Poor suck (HP:0002033)1.93160988
104Gaze-evoked nystagmus (HP:0000640)1.92066780
105Rigidity (HP:0002063)1.91689761
106Gout (HP:0001997)1.90603610
107Vertebral clefting (HP:0008428)1.89134602
108Generalized myoclonic seizures (HP:0002123)1.86599700
109Exotropia (HP:0000577)1.84361801
110Hypoplasia of the corpus callosum (HP:0002079)1.84107201
111* Incomplete penetrance (HP:0003829)1.82256482
112Abnormality of salivation (HP:0100755)1.81891151
113Abnormality of ocular smooth pursuit (HP:0000617)1.81626593
114Esotropia (HP:0000565)1.81310320
115Hemiparesis (HP:0001269)1.80518434
116Fetal akinesia sequence (HP:0001989)1.79855974
117Hemiplegia (HP:0002301)1.79590681
118Cerebral hypomyelination (HP:0006808)1.78498761
119Stereotypic behavior (HP:0000733)1.77746001
120Oligodactyly (hands) (HP:0001180)1.77404774
121Abnormality of aromatic amino acid family metabolism (HP:0004338)1.76530452
122Blue irides (HP:0000635)1.76235983
123Dyskinesia (HP:0100660)1.75493369
124Anosmia (HP:0000458)1.74847364
125Clonus (HP:0002169)1.74669753
126Increased circulating renin level (HP:0000848)1.74522972
127Genetic anticipation (HP:0003743)1.73956902
128Muscular hypotonia of the trunk (HP:0008936)1.73123165
129Shawl scrotum (HP:0000049)1.71042260
130Intellectual disability, severe (HP:0010864)1.70460132
131Optic nerve hypoplasia (HP:0000609)1.70125769
132Delusions (HP:0000746)1.69157441
133Lower limb muscle weakness (HP:0007340)1.66635235
134Impaired vibratory sensation (HP:0002495)1.66600474
135Megalencephaly (HP:0001355)1.65536920
136Abnormal pupillary function (HP:0007686)1.64889425
137Inappropriate behavior (HP:0000719)1.64309998
138Inability to walk (HP:0002540)1.64271101
139Intellectual disability, moderate (HP:0002342)1.60998474

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NUAK13.61740824
2MARK13.34635158
3NTRK33.25042871
4DMPK3.04280942
5MAP3K122.97882501
6STK38L2.83784506
7MAP3K92.69845388
8MAP3K42.68507379
9MAP3K72.55246592
10RAF12.47703203
11PIK3CA2.40871430
12STK382.36874703
13EPHA42.32702653
14MINK12.29744936
15MAP2K72.14866597
16MAP2K42.07724078
17WNK32.06584826
18NTRK21.81332678
19PAK61.79575036
20KSR11.71268321
21GRK51.70977643
22MST41.70539085
23PINK11.55333987
24DAPK21.49652371
25CASK1.39923156
26PLK21.38424735
27EPHB21.35498301
28MAPK131.31027446
29PNCK1.27224288
30UHMK11.25713277
31OXSR11.22759794
32CSNK1G21.22463165
33CDK51.17724846
34KSR21.17503398
35ILK1.15076763
36NTRK11.14931004
37NEK61.12944745
38CAMKK21.11643488
39TEC1.06585631
40CDK181.04601427
41CDK151.03608591
42WNK41.03474709
43CSNK1G31.01707744
44CDK191.00996061
45TAOK11.00277409
46TNIK1.00075594
47RIPK40.98929986
48CDK140.96063837
49LATS20.95186210
50CAMKK10.94002760
51CDK11A0.91664907
52DAPK10.90251121
53SGK20.89206180
54ROCK20.89132437
55PKN10.88694454
56MAP3K110.88139453
57RET0.87738442
58PHKG10.86804919
59PHKG20.86804919
60TRIM280.86123771
61CAMK10.85258676
62PRKCG0.85105710
63CAMK2A0.82243930
64PAK30.80077342
65SIK20.79149619
66MAPK150.78081454
67MAP2K10.75763198
68PDK10.72784332
69STK390.72223458
70PDPK10.71814062
71EPHA30.71480048
72MAPKAPK50.70624534
73CAMK40.69218352
74SGK2230.67691994
75SGK4940.67691994
76DYRK1A0.65637909
77FGR0.65219884
78FES0.65209107
79CAMK1G0.64078395
80DYRK1B0.63735581
81TYRO30.63499819
82CAMK2B0.63187595
83MAPK120.60357017
84ROCK10.57974959
85CSNK1G10.57430530
86PRKD30.56415691
87MAP3K20.56021920
88DYRK30.55672621
89CAMK1D0.52141921
90STK110.52010825
91MAP2K20.51676012
92ERBB30.50569977
93PRKCE0.49389170
94SGK30.48859424
95PRKACB0.48658150
96RPS6KA20.48552502
97ALK0.47724070
98PRKCZ0.47325665
99TNK20.46717473
100PRKCH0.46172565
101LIMK10.43241323
102PRKACA0.42284562
103MARK20.41410803
104RPS6KA30.41169377
105CAMK2D0.40886346
106PRKG10.40783177
107PRKAA10.40148359
108CSNK1D0.39489466
109CDC42BPA0.39272959
110NEK10.38799041
111FER0.38482377
112DYRK20.38466557
113CSNK1A10.38406551
114ICK0.37912159
115LMTK20.37294636
116GRK60.36720614
117ERBB20.36696079
118SGK10.36650330
119CSNK1A1L0.36477642
120ADRBK20.36044896
121MAPK100.35427720
122NME10.35323765
123PRKCQ0.34950406
124BCR0.34355481
125BRSK10.34261269
126CSNK1E0.33619026
127PRKCB0.33609697
128CAMK2G0.32837956
129SCYL20.32661964
130PTK2B0.32004111
131FYN0.30786622
132MAPK80.30340156
133ARAF0.30293674
134FGFR20.28138413
135PRKCA0.25956119

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.54849449
2* Nicotine addiction_Homo sapiens_hsa050333.20838194
3Butanoate metabolism_Homo sapiens_hsa006502.57551074
4Nitrogen metabolism_Homo sapiens_hsa009102.42818187
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.32551401
6Cocaine addiction_Homo sapiens_hsa050302.31283651
7GABAergic synapse_Homo sapiens_hsa047272.28540619
8Amphetamine addiction_Homo sapiens_hsa050312.14552525
9Pyruvate metabolism_Homo sapiens_hsa006202.03275879
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.03042273
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.98195852
12Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.96445153
13Collecting duct acid secretion_Homo sapiens_hsa049661.89448438
14Circadian entrainment_Homo sapiens_hsa047131.87054553
15Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.86737239
16Glutamatergic synapse_Homo sapiens_hsa047241.84484141
17Dopaminergic synapse_Homo sapiens_hsa047281.83693666
18Long-term potentiation_Homo sapiens_hsa047201.72040903
19Morphine addiction_Homo sapiens_hsa050321.71590633
20Tyrosine metabolism_Homo sapiens_hsa003501.63579842
21Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.61085506
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.57193641
23Olfactory transduction_Homo sapiens_hsa047401.54621214
24Oxidative phosphorylation_Homo sapiens_hsa001901.52886723
25Insulin secretion_Homo sapiens_hsa049111.49575894
26Parkinsons disease_Homo sapiens_hsa050121.47123787
27* Cholinergic synapse_Homo sapiens_hsa047251.46625979
28Caffeine metabolism_Homo sapiens_hsa002321.45786620
29Salivary secretion_Homo sapiens_hsa049701.38749323
30Serotonergic synapse_Homo sapiens_hsa047261.35487633
31Cardiac muscle contraction_Homo sapiens_hsa042601.25162236
32Gastric acid secretion_Homo sapiens_hsa049711.21764302
33Taste transduction_Homo sapiens_hsa047421.21106040
34Arginine biosynthesis_Homo sapiens_hsa002201.19713664
35Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.17718342
36Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.16762356
37Aldosterone synthesis and secretion_Homo sapiens_hsa049251.16360562
38Alzheimers disease_Homo sapiens_hsa050101.11474599
39Long-term depression_Homo sapiens_hsa047301.06500944
40Renin secretion_Homo sapiens_hsa049241.06484832
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.01906889
42Vitamin B6 metabolism_Homo sapiens_hsa007501.01647389
43Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.01268896
44Bile secretion_Homo sapiens_hsa049761.01078854
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00943285
46Linoleic acid metabolism_Homo sapiens_hsa005911.00541369
47Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.99853677
48Oxytocin signaling pathway_Homo sapiens_hsa049210.98791688
49Fatty acid degradation_Homo sapiens_hsa000710.98199247
50Fatty acid metabolism_Homo sapiens_hsa012120.97312208
51Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96828575
52Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.96408681
53Vibrio cholerae infection_Homo sapiens_hsa051100.95440273
54Primary bile acid biosynthesis_Homo sapiens_hsa001200.93932667
55Gap junction_Homo sapiens_hsa045400.92680389
56Carbon metabolism_Homo sapiens_hsa012000.90148250
57GnRH signaling pathway_Homo sapiens_hsa049120.90116317
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.89868519
59Propanoate metabolism_Homo sapiens_hsa006400.88068242
60Calcium signaling pathway_Homo sapiens_hsa040200.86651384
61Prion diseases_Homo sapiens_hsa050200.86361542
62Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.85744910
63Axon guidance_Homo sapiens_hsa043600.82609853
64* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82596527
65Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.82005674
66Tryptophan metabolism_Homo sapiens_hsa003800.79450421
67Chemical carcinogenesis_Homo sapiens_hsa052040.76658454
68Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.75558496
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75165024
70Phenylalanine metabolism_Homo sapiens_hsa003600.74349185
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71914220
722-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71345826
73Type II diabetes mellitus_Homo sapiens_hsa049300.69681037
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69195105
75cAMP signaling pathway_Homo sapiens_hsa040240.68193186
76Circadian rhythm_Homo sapiens_hsa047100.67943244
77Steroid hormone biosynthesis_Homo sapiens_hsa001400.67763878
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.65815933
79Estrogen signaling pathway_Homo sapiens_hsa049150.65008240
80ErbB signaling pathway_Homo sapiens_hsa040120.64509490
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63936088
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63292231
83Steroid biosynthesis_Homo sapiens_hsa001000.63156533
84MAPK signaling pathway_Homo sapiens_hsa040100.61771499
85Ras signaling pathway_Homo sapiens_hsa040140.57839121
86Thyroid hormone synthesis_Homo sapiens_hsa049180.57810415
87Fatty acid elongation_Homo sapiens_hsa000620.56647361
88Endometrial cancer_Homo sapiens_hsa052130.55277874
89Huntingtons disease_Homo sapiens_hsa050160.54795997
90Vascular smooth muscle contraction_Homo sapiens_hsa042700.53588641
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53493213
92Hedgehog signaling pathway_Homo sapiens_hsa043400.53127310
93Retinol metabolism_Homo sapiens_hsa008300.49871107
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.49703495
95Melanogenesis_Homo sapiens_hsa049160.49130412
96Phototransduction_Homo sapiens_hsa047440.49104036
97Dilated cardiomyopathy_Homo sapiens_hsa054140.48844946
98Glucagon signaling pathway_Homo sapiens_hsa049220.48265569
99cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45999679
100Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.44188872
101Rap1 signaling pathway_Homo sapiens_hsa040150.43201225
102Phospholipase D signaling pathway_Homo sapiens_hsa040720.42750961
103Sulfur metabolism_Homo sapiens_hsa009200.42465276
104Alcoholism_Homo sapiens_hsa050340.41871788
105Oocyte meiosis_Homo sapiens_hsa041140.40355470
106Complement and coagulation cascades_Homo sapiens_hsa046100.39869213
107Arginine and proline metabolism_Homo sapiens_hsa003300.38961816
108Glycosaminoglycan degradation_Homo sapiens_hsa005310.38635830
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38589674
110Histidine metabolism_Homo sapiens_hsa003400.38534441
111Glioma_Homo sapiens_hsa052140.38403238
112Hippo signaling pathway_Homo sapiens_hsa043900.37277561
113African trypanosomiasis_Homo sapiens_hsa051430.37140302
114ABC transporters_Homo sapiens_hsa020100.36915116
115Pancreatic secretion_Homo sapiens_hsa049720.36295792
116Ovarian steroidogenesis_Homo sapiens_hsa049130.35657826
117Insulin signaling pathway_Homo sapiens_hsa049100.35335741
118Adherens junction_Homo sapiens_hsa045200.34049709
119Cyanoamino acid metabolism_Homo sapiens_hsa004600.32882821
120Choline metabolism in cancer_Homo sapiens_hsa052310.32126597
121Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31986826
122Cysteine and methionine metabolism_Homo sapiens_hsa002700.31852396
123Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.30870232
124PPAR signaling pathway_Homo sapiens_hsa033200.30410555
125Tight junction_Homo sapiens_hsa045300.29724446
126beta-Alanine metabolism_Homo sapiens_hsa004100.28583379
127Peroxisome_Homo sapiens_hsa041460.27539006

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