CHRNB2

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: Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.01987357
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.58506511
3synaptic vesicle maturation (GO:0016188)5.49147887
4vocalization behavior (GO:0071625)5.28297887
5synaptic vesicle exocytosis (GO:0016079)5.21344084
6neuron cell-cell adhesion (GO:0007158)5.07220133
7locomotory exploration behavior (GO:0035641)4.99730790
8regulation of synaptic vesicle exocytosis (GO:2000300)4.95519951
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.93112708
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.89373043
11glutamate secretion (GO:0014047)4.70552192
12protein localization to synapse (GO:0035418)4.58416935
13regulation of glutamate receptor signaling pathway (GO:1900449)4.54759311
14neurotransmitter secretion (GO:0007269)4.53704518
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.50117335
16neuronal action potential propagation (GO:0019227)4.48826841
17regulation of synaptic vesicle transport (GO:1902803)4.46283925
18layer formation in cerebral cortex (GO:0021819)4.40274628
19auditory behavior (GO:0031223)4.29932921
20cerebellar Purkinje cell differentiation (GO:0021702)4.24490683
21response to pheromone (GO:0019236)4.12437953
22gamma-aminobutyric acid transport (GO:0015812)4.10270991
23exploration behavior (GO:0035640)4.08858083
24regulation of neuronal synaptic plasticity (GO:0048168)4.05859286
25synaptic vesicle docking involved in exocytosis (GO:0016081)4.05466697
26synaptic transmission, glutamatergic (GO:0035249)4.02831128
27regulation of synapse structural plasticity (GO:0051823)4.02098108
28neuron recognition (GO:0008038)4.02047828
29glutamate receptor signaling pathway (GO:0007215)3.95873748
30regulation of long-term neuronal synaptic plasticity (GO:0048169)3.94682452
31dendritic spine morphogenesis (GO:0060997)3.92641033
32response to auditory stimulus (GO:0010996)3.85237819
33positive regulation of neurotransmitter transport (GO:0051590)3.85085707
34axonal fasciculation (GO:0007413)3.81270835
35pyrimidine nucleobase catabolic process (GO:0006208)3.80610193
36positive regulation of neurotransmitter secretion (GO:0001956)3.80034933
37regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.79237871
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.77500026
39proline transport (GO:0015824)3.74535424
40neuron-neuron synaptic transmission (GO:0007270)3.73162264
41positive regulation of dendritic spine morphogenesis (GO:0061003)3.71280474
42neurotransmitter transport (GO:0006836)3.66988372
43cerebellar Purkinje cell layer development (GO:0021680)3.66258432
44cell migration in hindbrain (GO:0021535)3.64388260
45transmission of nerve impulse (GO:0019226)3.64296158
46* neuromuscular synaptic transmission (GO:0007274)3.62434311
47positive regulation of synaptic transmission, GABAergic (GO:0032230)3.60846504
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59480128
49dendrite morphogenesis (GO:0048813)3.58745805
50mechanosensory behavior (GO:0007638)3.57874434
51long-term memory (GO:0007616)3.57172246
52regulation of synapse maturation (GO:0090128)3.52263209
53L-amino acid import (GO:0043092)3.52142649
54negative regulation of dendrite morphogenesis (GO:0050774)3.51235427
55postsynaptic membrane organization (GO:0001941)3.49535495
56cellular potassium ion homeostasis (GO:0030007)3.47939925
57neurotransmitter-gated ion channel clustering (GO:0072578)3.44359561
58positive regulation of membrane potential (GO:0045838)3.44322895
59positive regulation of synapse maturation (GO:0090129)3.43125779
60neuromuscular process controlling posture (GO:0050884)3.43063333
61positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40779397
62negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.39916186
63regulation of neurotransmitter levels (GO:0001505)3.38259525
64activation of protein kinase A activity (GO:0034199)3.37421020
65regulation of excitatory postsynaptic membrane potential (GO:0060079)3.35901270
66establishment of mitochondrion localization (GO:0051654)3.35708502
67potassium ion homeostasis (GO:0055075)3.33374424
68* positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.30742394
69regulation of postsynaptic membrane potential (GO:0060078)3.30733196
70membrane depolarization during action potential (GO:0086010)3.30016416
71regulation of vesicle fusion (GO:0031338)3.28755335
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.28380773
73gamma-aminobutyric acid signaling pathway (GO:0007214)3.28150847
74synapse assembly (GO:0007416)3.27775839
75regulation of neurotransmitter secretion (GO:0046928)3.26489028
76neuronal ion channel clustering (GO:0045161)3.26334578
77synaptic vesicle endocytosis (GO:0048488)3.25457758
78negative regulation of microtubule polymerization (GO:0031115)3.24819073
79regulation of ARF protein signal transduction (GO:0032012)3.22069210
80dendritic spine organization (GO:0097061)3.21645789
81regulation of respiratory system process (GO:0044065)3.20610922
82righting reflex (GO:0060013)3.20338426
83cell communication by electrical coupling (GO:0010644)3.19285322
84cell differentiation in hindbrain (GO:0021533)3.17045692
85cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14994026
86negative regulation of synaptic transmission, GABAergic (GO:0032229)3.14056510
87neuromuscular process controlling balance (GO:0050885)3.12629764
88regulation of synaptic plasticity (GO:0048167)3.11220917
89membrane hyperpolarization (GO:0060081)3.10328360
90cerebellum development (GO:0021549)3.09607077
91amino acid import (GO:0043090)3.09595766
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09533558
93regulation of dendritic spine development (GO:0060998)3.09500843
94regulation of voltage-gated calcium channel activity (GO:1901385)3.09305209
95mating behavior (GO:0007617)3.07218304
96regulation of synaptic transmission, glutamatergic (GO:0051966)3.05458251
97presynaptic membrane assembly (GO:0097105)3.04525472
98nucleobase catabolic process (GO:0046113)3.04284511
99prepulse inhibition (GO:0060134)3.04094897
100urinary tract smooth muscle contraction (GO:0014848)3.03414390
101innervation (GO:0060384)3.01720400
102positive regulation of synapse assembly (GO:0051965)3.00876199
103* membrane depolarization (GO:0051899)3.00815390
104positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98459438
105regulation of neurotransmitter transport (GO:0051588)2.97942439
106sodium ion export (GO:0071436)2.97526109
107mitochondrion transport along microtubule (GO:0047497)2.97310170
108establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.97310170
109regulation of respiratory gaseous exchange (GO:0043576)2.97086748
110* regulation of synaptic transmission (GO:0050804)2.94773246
111establishment of synaptic vesicle localization (GO:0097480)2.94681039
112positive regulation of dendritic spine development (GO:0060999)2.94115076
113presynaptic membrane organization (GO:0097090)2.94094578
114regulation of calcium ion-dependent exocytosis (GO:0017158)2.93677466
115positive regulation of potassium ion transmembrane transport (GO:1901381)2.93324647
116* synaptic transmission (GO:0007268)2.93127689
117G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.92759324
118synapse organization (GO:0050808)2.92619933
119cerebellar granule cell differentiation (GO:0021707)2.90984143
120* learning (GO:0007612)2.90622078
121adult walking behavior (GO:0007628)2.89985317
122regulation of synaptic transmission, GABAergic (GO:0032228)2.89424524
123regulation of dendritic spine morphogenesis (GO:0061001)2.89365246

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.01036654
2GBX2_23144817_ChIP-Seq_PC3_Human3.47642283
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11206238
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.08372888
5REST_21632747_ChIP-Seq_MESCs_Mouse2.99881045
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98862084
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70618035
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70618035
9NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.70201124
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67672729
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.67543064
12CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.62423706
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56550528
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55277287
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53477755
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47496876
17* REST_18959480_ChIP-ChIP_MESCs_Mouse2.47038364
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.46471752
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45640778
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.43482435
21DROSHA_22980978_ChIP-Seq_HELA_Human2.38880517
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.35914108
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.31355611
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.21010271
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09943565
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.09525134
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.93835749
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87753500
29TAF15_26573619_Chip-Seq_HEK293_Human1.79504589
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.78515236
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.73857384
32IGF1R_20145208_ChIP-Seq_DFB_Human1.72247519
33ZNF274_21170338_ChIP-Seq_K562_Hela1.64963464
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.60684610
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57404919
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51631867
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.51531279
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.50874723
39AR_21572438_ChIP-Seq_LNCaP_Human1.50488234
40SMAD4_21799915_ChIP-Seq_A2780_Human1.50169413
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.47458427
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.46663123
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.45037364
44RNF2_27304074_Chip-Seq_NSC_Mouse1.40972051
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.40294559
46RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38739623
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30432554
48ZFP281_27345836_Chip-Seq_ESCs_Mouse1.27458095
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27417435
50THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25595335
51BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25347123
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.24118314
53P300_19829295_ChIP-Seq_ESCs_Human1.23887529
54AR_19668381_ChIP-Seq_PC3_Human1.23806412
55GATA1_26923725_Chip-Seq_HPCs_Mouse1.23691804
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.21979135
57AR_25329375_ChIP-Seq_VCAP_Human1.21899301
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.18050471
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16875665
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16826793
61STAT3_23295773_ChIP-Seq_U87_Human1.15362070
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15191425
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.13839777
64RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.13190398
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.13178538
66OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09911101
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08358980
68KDM2B_26808549_Chip-Seq_K562_Human1.06986764
69OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.05943559
70SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.04188998
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03818886
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.03567520
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03547220
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03020067
75EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.00005521
76ARNT_22903824_ChIP-Seq_MCF-7_Human0.99356365
77AHR_22903824_ChIP-Seq_MCF-7_Human0.98949210
78WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98351623
79PIAS1_25552417_ChIP-Seq_VCAP_Human0.98236774
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97389537
81TCF4_23295773_ChIP-Seq_U87_Human0.97303740
82CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96959323
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96295593
84RUNX2_22187159_ChIP-Seq_PCA_Human0.95470966
85SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.94274978
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.93024388
87WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.91618596
88GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91245957
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90576059
90CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.90242767
91* DPY_21335234_ChIP-Seq_ESCs_Mouse0.90157559
92SMAD4_21741376_ChIP-Seq_HESCs_Human0.90092863
93VDR_22108803_ChIP-Seq_LS180_Human0.89654972
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88639122
95TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88639122
96TP53_20018659_ChIP-ChIP_R1E_Mouse0.87739187
97MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.87474224
98NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.87399662
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86844790
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86715556
101OCT4_19829295_ChIP-Seq_ESCs_Human0.86259139
102* TET1_21490601_ChIP-Seq_MESCs_Mouse0.85795610
103TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85126752
104ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.84827160
105CDX2_19796622_ChIP-Seq_MESCs_Mouse0.84242394
106* CTCF_27219007_Chip-Seq_Bcells_Human0.84160455
107TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.83988699
108SMC4_20622854_ChIP-Seq_HELA_Human0.83814536
109PRDM14_20953172_ChIP-Seq_ESCs_Human0.82748979
110TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.82239705
111TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.80812468
112ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80340532
113SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78497755
114LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77917306
115SOX9_26525672_Chip-Seq_HEART_Mouse0.76371048
116POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.74513684
117GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73583497
118* LXR_22292898_ChIP-Seq_THP-1_Human0.72873570

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.63793278
2MP0003880_abnormal_central_pattern4.66253490
3* MP0003635_abnormal_synaptic_transmissio3.77423869
4MP0004270_analgesia3.56084653
5* MP0002063_abnormal_learning/memory/cond3.10231971
6MP0001968_abnormal_touch/_nociception3.05029981
7MP0009745_abnormal_behavioral_response3.03997931
8MP0005423_abnormal_somatic_nervous2.95803185
9MP0009046_muscle_twitch2.87509246
10MP0002064_seizures2.85439001
11MP0002734_abnormal_mechanical_nocicepti2.80351981
12* MP0002572_abnormal_emotion/affect_behav2.62481815
13* MP0006276_abnormal_autonomic_nervous2.54256976
14MP0002735_abnormal_chemical_nociception2.53105849
15* MP0002272_abnormal_nervous_system2.40732307
16MP0005645_abnormal_hypothalamus_physiol2.40205560
17MP0002733_abnormal_thermal_nociception2.35246651
18MP0001486_abnormal_startle_reflex2.33247983
19MP0003122_maternal_imprinting2.31152475
20MP0000569_abnormal_digit_pigmentation2.21525418
21MP0001440_abnormal_grooming_behavior2.18017844
22MP0002736_abnormal_nociception_after2.14189532
23MP0002184_abnormal_innervation2.11944036
24MP0000778_abnormal_nervous_system2.11242931
25MP0001501_abnormal_sleep_pattern2.10529877
26MP0002067_abnormal_sensory_capabilities2.06424174
27* MP0001970_abnormal_pain_threshold2.04628710
28MP0002909_abnormal_adrenal_gland2.03334897
29MP0002822_catalepsy1.97739389
30MP0001529_abnormal_vocalization1.97344799
31MP0002557_abnormal_social/conspecific_i1.94381323
32MP0008569_lethality_at_weaning1.86762180
33MP0001984_abnormal_olfaction1.80370601
34MP0004811_abnormal_neuron_physiology1.79599772
35MP0004924_abnormal_behavior1.76143309
36MP0005386_behavior/neurological_phenoty1.76143309
37MP0009780_abnormal_chondrocyte_physiolo1.68239171
38MP0000955_abnormal_spinal_cord1.66032750
39MP0004858_abnormal_nervous_system1.64249364
40MP0003787_abnormal_imprinting1.63285593
41MP0005646_abnormal_pituitary_gland1.62596320
42MP0003329_amyloid_beta_deposits1.56211544
43MP0001502_abnormal_circadian_rhythm1.54070161
44MP0002882_abnormal_neuron_morphology1.49380423
45MP0004142_abnormal_muscle_tone1.45793508
46MP0008961_abnormal_basal_metabolism1.40552177
47MP0003879_abnormal_hair_cell1.40105031
48MP0002066_abnormal_motor_capabilities/c1.40027931
49MP0001905_abnormal_dopamine_level1.39029235
50MP0003123_paternal_imprinting1.29365036
51MP0001188_hyperpigmentation1.25971623
52MP0008877_abnormal_DNA_methylation1.25856616
53MP0004885_abnormal_endolymph1.21913312
54MP0003183_abnormal_peptide_metabolism1.15493982
55MP0000013_abnormal_adipose_tissue1.14505626
56* MP0002152_abnormal_brain_morphology1.13928903
57MP0004742_abnormal_vestibular_system1.12509383
58MP0003633_abnormal_nervous_system1.03759608
59MP0000631_abnormal_neuroendocrine_gland1.02766785
60MP0005551_abnormal_eye_electrophysiolog1.01559103
61MP0002069_abnormal_eating/drinking_beha0.99497788
62MP0002229_neurodegeneration0.99015275
63MP0002837_dystrophic_cardiac_calcinosis0.98225688
64MP0006072_abnormal_retinal_apoptosis0.97539657
65MP0005171_absent_coat_pigmentation0.96097870
66MP0003690_abnormal_glial_cell0.95865306
67MP0004145_abnormal_muscle_electrophysio0.95782597
68MP0003121_genomic_imprinting0.95743199
69MP0005394_taste/olfaction_phenotype0.94803101
70MP0005499_abnormal_olfactory_system0.94803101
71MP0003283_abnormal_digestive_organ0.94744479
72MP0002876_abnormal_thyroid_physiology0.88812872
73MP0003631_nervous_system_phenotype0.87617255
74MP0005174_abnormal_tail_pigmentation0.87591426
75MP0000920_abnormal_myelination0.85655334
76MP0002752_abnormal_somatic_nervous0.85402264
77MP0003137_abnormal_impulse_conducting0.85344658
78MP0001986_abnormal_taste_sensitivity0.83346757
79MP0005535_abnormal_body_temperature0.82991953
80MP0008872_abnormal_physiological_respon0.78455974
81MP0004043_abnormal_pH_regulation0.78282602
82MP0001963_abnormal_hearing_physiology0.78227296
83MP0000751_myopathy0.77480546
84MP0003136_yellow_coat_color0.77417176
85MP0003634_abnormal_glial_cell0.75736613
86MP0004085_abnormal_heartbeat0.74668141
87MP0001299_abnormal_eye_distance/0.74335022
88MP0003861_abnormal_nervous_system0.69833725
89MP0005379_endocrine/exocrine_gland_phen0.69608771
90MP0005409_darkened_coat_color0.69081385
91* MP0010386_abnormal_urinary_bladder0.67928872
92MP0005253_abnormal_eye_physiology0.67793227
93MP0002751_abnormal_autonomic_nervous0.65514112
94MP0003632_abnormal_nervous_system0.61890647
95* MP0002638_abnormal_pupillary_reflex0.61600619
96* MP0010768_mortality/aging0.61546124
97MP0004130_abnormal_muscle_cell0.59427707
98MP0001943_abnormal_respiration0.58749060
99MP0000604_amyloidosis0.58500901
100MP0003172_abnormal_lysosome_physiology0.58075786
101MP0001177_atelectasis0.58064278
102MP0008874_decreased_physiological_sensi0.56537827
103* MP0002082_postnatal_lethality0.55892565
104* MP0010770_preweaning_lethality0.55892565
105MP0000026_abnormal_inner_ear0.55606928
106MP0001485_abnormal_pinna_reflex0.55424506
107* MP0010769_abnormal_survival0.55350010
108MP0001348_abnormal_lacrimal_gland0.54936538
109MP0004133_heterotaxia0.54929142
110MP0002653_abnormal_ependyma_morphology0.54544419
111MP0005448_abnormal_energy_balance0.53656288
112MP0002081_perinatal_lethality0.51026632
113MP0003956_abnormal_body_size0.49688407

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.90665907
2Myokymia (HP:0002411)6.09983233
3Focal seizures (HP:0007359)5.30261760
4Visual hallucinations (HP:0002367)4.84605649
5Febrile seizures (HP:0002373)4.43039518
6Epileptic encephalopathy (HP:0200134)4.41199591
7Progressive cerebellar ataxia (HP:0002073)4.33372673
8Atonic seizures (HP:0010819)4.09284393
9Failure to thrive in infancy (HP:0001531)4.08744906
10Absence seizures (HP:0002121)3.77609808
11Supranuclear gaze palsy (HP:0000605)3.75670380
12Annular pancreas (HP:0001734)3.66848366
13Broad-based gait (HP:0002136)3.62337369
14Akinesia (HP:0002304)3.59220079
15Generalized tonic-clonic seizures (HP:0002069)3.51873230
16Polyphagia (HP:0002591)3.46790768
17Action tremor (HP:0002345)3.44962488
18Limb dystonia (HP:0002451)3.39465338
19Dialeptic seizures (HP:0011146)3.38114065
20Abnormal eating behavior (HP:0100738)3.29337029
21Poor eye contact (HP:0000817)3.23224876
22Ankle clonus (HP:0011448)3.19854762
23Papilledema (HP:0001085)3.16968084
24Depression (HP:0000716)3.14849590
25Agitation (HP:0000713)3.12010500
26Mutism (HP:0002300)3.06237062
27Impaired social interactions (HP:0000735)3.01662793
28Abnormal social behavior (HP:0012433)3.01662793
29Truncal ataxia (HP:0002078)2.99011676
30Excessive salivation (HP:0003781)2.93443726
31Drooling (HP:0002307)2.93443726
32Hemiparesis (HP:0001269)2.84845362
33Epileptiform EEG discharges (HP:0011182)2.84239492
34Progressive inability to walk (HP:0002505)2.83532265
35EEG with generalized epileptiform discharges (HP:0011198)2.80839272
36Gaze-evoked nystagmus (HP:0000640)2.80507235
37Amblyopia (HP:0000646)2.80449349
38Anxiety (HP:0000739)2.75731103
39Impaired vibration sensation in the lower limbs (HP:0002166)2.74817568
40Pheochromocytoma (HP:0002666)2.71813012
41Hypsarrhythmia (HP:0002521)2.68857217
42Obstructive sleep apnea (HP:0002870)2.67457921
43Dysdiadochokinesis (HP:0002075)2.66712940
44Hyperventilation (HP:0002883)2.65339609
45Urinary urgency (HP:0000012)2.64709860
46Turricephaly (HP:0000262)2.61484031
47Spastic gait (HP:0002064)2.61415216
48Genetic anticipation (HP:0003743)2.58914069
49Dysmetria (HP:0001310)2.57703799
50Impaired smooth pursuit (HP:0007772)2.53461043
51Urinary bladder sphincter dysfunction (HP:0002839)2.52319168
52Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.44508519
53Scanning speech (HP:0002168)2.37705029
54Protruding tongue (HP:0010808)2.37597182
55Esotropia (HP:0000565)2.36098375
56Abnormality of the corticospinal tract (HP:0002492)2.34721001
57Neuroendocrine neoplasm (HP:0100634)2.33777102
58Abnormality of ocular smooth pursuit (HP:0000617)2.30431933
59Sleep apnea (HP:0010535)2.29282519
60Torticollis (HP:0000473)2.28901466
61Cerebral hypomyelination (HP:0006808)2.27869166
62Abnormality of the lower motor neuron (HP:0002366)2.23611703
63Specific learning disability (HP:0001328)2.23359037
64Impaired vibratory sensation (HP:0002495)2.23049340
65Abnormality of binocular vision (HP:0011514)2.21758181
66Diplopia (HP:0000651)2.21758181
67Insomnia (HP:0100785)2.21000871
68Clonus (HP:0002169)2.20629322
69Stereotypic behavior (HP:0000733)2.18744710
70Degeneration of the lateral corticospinal tracts (HP:0002314)2.18064484
71Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18064484
72Abnormal hair whorl (HP:0010721)2.17358395
73Postural instability (HP:0002172)2.16496621
74Absent speech (HP:0001344)2.15977542
75Hypoventilation (HP:0002791)2.15545392
76Inability to walk (HP:0002540)2.14287987
77Neurofibrillary tangles (HP:0002185)2.13266034
78Focal dystonia (HP:0004373)2.11557247
79Rib fusion (HP:0000902)2.11274835
80Psychosis (HP:0000709)2.10507952
81Hypoplasia of the brainstem (HP:0002365)2.09715704
82Aplasia/Hypoplasia of the brainstem (HP:0007362)2.09715704
83Bradykinesia (HP:0002067)2.08318176
84Hemiplegia (HP:0002301)2.06945100
85Amyotrophic lateral sclerosis (HP:0007354)2.06465902
86Ventricular fibrillation (HP:0001663)2.04753377
87Lower limb muscle weakness (HP:0007340)2.03670598
88Gait imbalance (HP:0002141)2.01546929
89Megalencephaly (HP:0001355)2.01343056
90Lissencephaly (HP:0001339)2.00822283
91Status epilepticus (HP:0002133)1.99160230
92Fetal akinesia sequence (HP:0001989)1.98539960
93Intention tremor (HP:0002080)1.98050926
94Cerebral inclusion bodies (HP:0100314)1.97466054
95Termporal pattern (HP:0011008)1.97227077
96Insidious onset (HP:0003587)1.97227077
97Exotropia (HP:0000577)1.95020436
98Pointed chin (HP:0000307)1.93613743
99Gait ataxia (HP:0002066)1.92942853
100Poor suck (HP:0002033)1.91088908
101Neuronal loss in central nervous system (HP:0002529)1.90865905
102Neoplasm of the heart (HP:0100544)1.90560300
103Abnormality of salivation (HP:0100755)1.90164208
104Hyperthyroidism (HP:0000836)1.90021776
105Prolonged QT interval (HP:0001657)1.88264903
106Craniofacial dystonia (HP:0012179)1.87105448
107Peripheral hypomyelination (HP:0007182)1.85129105
108Sporadic (HP:0003745)1.81922230
109Generalized hypotonia (HP:0001290)1.81115141
110Morphological abnormality of the pyramidal tract (HP:0002062)1.81097011
111Spastic tetraparesis (HP:0001285)1.81041642
112Tetraplegia (HP:0002445)1.80674435
113Open mouth (HP:0000194)1.77351854
114Blue irides (HP:0000635)1.76758583
115Bronchomalacia (HP:0002780)1.73242592
116Choreoathetosis (HP:0001266)1.70084027
117Diminished movement (HP:0002374)1.68876364
118Spastic tetraplegia (HP:0002510)1.68234430
119Paraplegia (HP:0010550)1.67348654
120Hypoplasia of the corpus callosum (HP:0002079)1.66011507
121Intellectual disability, severe (HP:0010864)1.64149855
122Incomplete penetrance (HP:0003829)1.63531913
123Apathy (HP:0000741)1.60092820
124Hyperinsulinemic hypoglycemia (HP:0000825)1.59437564
125Muscular hypotonia of the trunk (HP:0008936)1.58152348
126Delusions (HP:0000746)1.58047343
127Rigidity (HP:0002063)1.57958646

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.27726872
2MARK14.15015222
3MAP3K93.82160690
4MAP3K43.13949689
5MINK12.92769656
6MAP2K72.71263393
7NTRK22.67498279
8EPHA42.66421829
9MAP3K122.36648873
10SIK32.09527642
11PAK62.06646035
12SIK21.95927807
13MAP2K41.93227719
14KSR11.92917405
15DAPK21.85446340
16UHMK11.84639379
17CDK191.81178929
18NTRK11.80368687
19CASK1.78619758
20CAMK1D1.77215742
21MAPK131.73412302
22CDK51.61372590
23TNIK1.52661781
24PNCK1.43958584
25RIPK41.40327558
26KSR21.38797823
27PRKD31.32625060
28CAMKK11.32177934
29BCR1.28861271
30PRKCG1.22050961
31GRK51.19728866
32WNK31.18802253
33CAMKK21.15924643
34DAPK11.11129226
35PHKG11.09758203
36PHKG21.09758203
37STK381.08704953
38SGK4941.07084325
39SGK2231.07084325
40DYRK21.05797132
41IRAK21.04350549
42ERBB31.01536257
43TYRO30.98421635
44CDK180.96321471
45MAP3K20.94278789
46PLK20.93663293
47FES0.93169405
48CDK140.88375769
49CAMK2A0.88184449
50DYRK1A0.87912375
51CDK150.86138396
52PRPF4B0.86085463
53PAK30.84487384
54PKN10.83173098
55ARAF0.82633497
56CAMK40.82423715
57MARK20.79970660
58FRK0.79064399
59CAMK2B0.78976693
60RET0.77278481
61MAPK150.75879490
62CSNK1G20.75251261
63CDK11A0.74915964
64PRKCH0.74742567
65SGK20.71196376
66STK110.69460469
67PRKCZ0.69252015
68INSRR0.68330210
69OXSR10.67520574
70CAMK10.65915273
71AKT30.65146928
72CDC42BPA0.64224543
73SGK10.60798024
74CSNK1G30.59849433
75PRKCE0.59704130
76WNK40.59604428
77RAF10.58911871
78CAMK1G0.57220128
79MAP3K10.56970998
80TNK20.56922791
81LATS20.53851940
82SGK30.53724089
83NEK60.51906002
84BMPR20.51524079
85WNK10.51109143
86MAPK120.49028963
87PRKAA10.48902995
88FYN0.48467074
89ALK0.48318272
90LMTK20.48310649
91CSNK1A1L0.48055078
92RPS6KA20.47853867
93NME10.47756964
94HIPK20.47659558
95TAOK10.47311058
96CAMK2D0.46060682
97CSNK1D0.45305121
98RIPK10.44886786
99RPS6KA30.44646146
100BRAF0.44586069
101CCNB10.43941894
102ICK0.43928878
103MAPK100.43851004
104CAMK2G0.43238723
105PINK10.43116051
106FGFR20.42923045
107ERBB20.42759510
108CSNK1G10.41334052
109MAP3K130.41185122
110LIMK10.40705565
111FER0.40640030
112ADRBK10.40554569
113MAPK80.39323178
114DYRK1B0.38477118
115PDPK10.37722041
116CDK30.37654031
117CSNK1E0.36351770
118SCYL20.36144764
119EPHB20.35383421
120DAPK30.34981719
121MAP3K110.34523955
122PRKG10.34245145
123PDK10.33840512
124MAPK90.33325842

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050333.72549557
2Synaptic vesicle cycle_Homo sapiens_hsa047213.57470312
3GABAergic synapse_Homo sapiens_hsa047272.76882495
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.65251065
5Circadian entrainment_Homo sapiens_hsa047132.54604175
6Glutamatergic synapse_Homo sapiens_hsa047242.48802530
7Morphine addiction_Homo sapiens_hsa050322.44239661
8Long-term potentiation_Homo sapiens_hsa047202.42391431
9Olfactory transduction_Homo sapiens_hsa047402.42209305
10Insulin secretion_Homo sapiens_hsa049112.37938689
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.34222660
12Amphetamine addiction_Homo sapiens_hsa050312.32454294
13Dopaminergic synapse_Homo sapiens_hsa047282.31266045
14Taste transduction_Homo sapiens_hsa047422.02150560
15Cocaine addiction_Homo sapiens_hsa050301.94307305
16* Cholinergic synapse_Homo sapiens_hsa047251.92504243
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.88381095
18Salivary secretion_Homo sapiens_hsa049701.85328273
19Serotonergic synapse_Homo sapiens_hsa047261.82865130
20Long-term depression_Homo sapiens_hsa047301.72536838
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71060520
22Collecting duct acid secretion_Homo sapiens_hsa049661.63988046
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.60290357
24Gastric acid secretion_Homo sapiens_hsa049711.57188909
25Type II diabetes mellitus_Homo sapiens_hsa049301.46287708
26Renin secretion_Homo sapiens_hsa049241.41125399
27Oxytocin signaling pathway_Homo sapiens_hsa049211.40762301
28Gap junction_Homo sapiens_hsa045401.39632251
29GnRH signaling pathway_Homo sapiens_hsa049121.35828579
30Calcium signaling pathway_Homo sapiens_hsa040201.33425411
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33423508
32Vibrio cholerae infection_Homo sapiens_hsa051101.32569851
33Axon guidance_Homo sapiens_hsa043601.26768361
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21350517
35Phototransduction_Homo sapiens_hsa047441.16233225
36cAMP signaling pathway_Homo sapiens_hsa040241.15226340
37Estrogen signaling pathway_Homo sapiens_hsa049151.14222650
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10823901
39* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.09468166
40ErbB signaling pathway_Homo sapiens_hsa040121.04762973
41Type I diabetes mellitus_Homo sapiens_hsa049401.03613894
42Melanogenesis_Homo sapiens_hsa049161.01888464
43Vitamin B6 metabolism_Homo sapiens_hsa007500.99862439
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97247146
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96759119
46Cardiac muscle contraction_Homo sapiens_hsa042600.93970825
47Glioma_Homo sapiens_hsa052140.92286645
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.88171050
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84740914
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83385161
51Oocyte meiosis_Homo sapiens_hsa041140.82908934
52Pancreatic secretion_Homo sapiens_hsa049720.82736807
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.80276899
54Thyroid hormone synthesis_Homo sapiens_hsa049180.78669604
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.76343886
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.76314114
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.74138147
58Alcoholism_Homo sapiens_hsa050340.73065296
59Choline metabolism in cancer_Homo sapiens_hsa052310.71821489
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71080111
61Maturity onset diabetes of the young_Homo sapiens_hsa049500.69673871
62Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.69039872
63MAPK signaling pathway_Homo sapiens_hsa040100.66563445
64Dorso-ventral axis formation_Homo sapiens_hsa043200.62388906
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62182533
66Fatty acid biosynthesis_Homo sapiens_hsa000610.60475317
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58592843
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.58440242
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58368301
70VEGF signaling pathway_Homo sapiens_hsa043700.57461009
71Bile secretion_Homo sapiens_hsa049760.56955329
72Inositol phosphate metabolism_Homo sapiens_hsa005620.56172152
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55965435
74Circadian rhythm_Homo sapiens_hsa047100.53043557
75Glucagon signaling pathway_Homo sapiens_hsa049220.52935420
76Endometrial cancer_Homo sapiens_hsa052130.52118649
77Ras signaling pathway_Homo sapiens_hsa040140.51706623
78Dilated cardiomyopathy_Homo sapiens_hsa054140.51133522
79Wnt signaling pathway_Homo sapiens_hsa043100.49300221
80Renal cell carcinoma_Homo sapiens_hsa052110.47758304
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47213154
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46141277
83mTOR signaling pathway_Homo sapiens_hsa041500.45800188
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45783484
85Endocytosis_Homo sapiens_hsa041440.45070296
86Alzheimers disease_Homo sapiens_hsa050100.44093465
87Insulin signaling pathway_Homo sapiens_hsa049100.43768235
88Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.42103478
89Prion diseases_Homo sapiens_hsa050200.41939202
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41734214
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41253098
92Rap1 signaling pathway_Homo sapiens_hsa040150.40703187
93AMPK signaling pathway_Homo sapiens_hsa041520.40386791
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39625484
95Prolactin signaling pathway_Homo sapiens_hsa049170.38633135
96Ovarian steroidogenesis_Homo sapiens_hsa049130.38612394
97Non-small cell lung cancer_Homo sapiens_hsa052230.33675460
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.33485212
99Hippo signaling pathway_Homo sapiens_hsa043900.32863497
100Colorectal cancer_Homo sapiens_hsa052100.32650278
101Chemokine signaling pathway_Homo sapiens_hsa040620.32210472
102Phagosome_Homo sapiens_hsa041450.31550835
103Butanoate metabolism_Homo sapiens_hsa006500.31458077
104Regulation of autophagy_Homo sapiens_hsa041400.31307944
105Oxidative phosphorylation_Homo sapiens_hsa001900.30683452
106Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.28307828
107Hedgehog signaling pathway_Homo sapiens_hsa043400.28049282
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.27580705
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24469217
110Tight junction_Homo sapiens_hsa045300.22701261
111Arginine biosynthesis_Homo sapiens_hsa002200.20333633

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