SCN1B

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





Description: Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.79730184
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.26366796
3locomotory exploration behavior (GO:0035641)6.11974124
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.52585030
5glutamate secretion (GO:0014047)5.49866465
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.40247365
7synaptic vesicle exocytosis (GO:0016079)5.37891686
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.36871567
9regulation of synaptic vesicle exocytosis (GO:2000300)5.14937177
10vocalization behavior (GO:0071625)5.05664093
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.98575843
12regulation of synaptic vesicle transport (GO:1902803)4.69245940
13cellular potassium ion homeostasis (GO:0030007)4.68246119
14neurotransmitter secretion (GO:0007269)4.65442183
15sodium ion export (GO:0071436)4.65178611
16regulation of glutamate receptor signaling pathway (GO:1900449)4.64475816
17regulation of neuronal synaptic plasticity (GO:0048168)4.51760039
18* neuronal action potential propagation (GO:0019227)4.48263851
19regulation of synapse structural plasticity (GO:0051823)4.40798321
20exploration behavior (GO:0035640)4.40179135
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.36570995
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.31254269
23layer formation in cerebral cortex (GO:0021819)4.08308239
24actin-myosin filament sliding (GO:0033275)4.04318825
25muscle filament sliding (GO:0030049)4.04318825
26protein localization to synapse (GO:0035418)4.04318087
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.01244796
28synaptic transmission, glutamatergic (GO:0035249)4.00083490
29gamma-aminobutyric acid transport (GO:0015812)3.99017196
30neuromuscular process controlling posture (GO:0050884)3.93448099
31long-term memory (GO:0007616)3.90591018
32regulation of synapse maturation (GO:0090128)3.88972165
33activation of protein kinase A activity (GO:0034199)3.85115777
34skeletal muscle contraction (GO:0003009)3.83370578
35creatine metabolic process (GO:0006600)3.79923253
36positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.78706440
37glutamate receptor signaling pathway (GO:0007215)3.78132589
38proline transport (GO:0015824)3.77847484
39dendritic spine morphogenesis (GO:0060997)3.76397383
40neuromuscular process controlling balance (GO:0050885)3.75976523
41cerebellar Purkinje cell differentiation (GO:0021702)3.75896830
42cell communication by electrical coupling (GO:0010644)3.70689466
43neurotransmitter-gated ion channel clustering (GO:0072578)3.67497996
44potassium ion import (GO:0010107)3.66681962
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.63623324
46glycine transport (GO:0015816)3.62979078
47neuron-neuron synaptic transmission (GO:0007270)3.62663156
48positive regulation of membrane potential (GO:0045838)3.62184116
49neurotransmitter transport (GO:0006836)3.60703162
50regulation of synaptic plasticity (GO:0048167)3.51000468
51regulation of skeletal muscle contraction (GO:0014819)3.47262337
52regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.47165314
53regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.45275406
54positive regulation of synapse maturation (GO:0090129)3.43913240
55regulation of neurotransmitter secretion (GO:0046928)3.41568185
56regulation of neurotransmitter levels (GO:0001505)3.41004779
57regulation of ARF protein signal transduction (GO:0032012)3.40709654
58positive regulation of dendritic spine development (GO:0060999)3.40583723
59regulation of dendritic spine morphogenesis (GO:0061001)3.40079732
60regulation of postsynaptic membrane potential (GO:0060078)3.38885290
61* striated muscle contraction (GO:0006941)3.37788236
62L-amino acid import (GO:0043092)3.32615446
63positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.32285208
64synaptic vesicle endocytosis (GO:0048488)3.31754223
65axon ensheathment in central nervous system (GO:0032291)3.31220260
66central nervous system myelination (GO:0022010)3.31220260
67regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.29594990
68amino acid import (GO:0043090)3.29586519
69regulation of relaxation of muscle (GO:1901077)3.25094680
70postsynaptic membrane organization (GO:0001941)3.24033711
71* membrane depolarization during action potential (GO:0086010)3.21123537
72neuromuscular synaptic transmission (GO:0007274)3.19433048
73cellular sodium ion homeostasis (GO:0006883)3.17680792
74negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.16887221
75negative regulation of synaptic transmission, GABAergic (GO:0032229)3.16515016
76neurotransmitter uptake (GO:0001504)3.16175833
77* membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.15147038
78regulation of neurotransmitter transport (GO:0051588)3.14791636
79actin-mediated cell contraction (GO:0070252)3.12499666
80regulation of voltage-gated calcium channel activity (GO:1901385)3.09809070
81long-term synaptic potentiation (GO:0060291)3.09595074
82chemosensory behavior (GO:0007635)3.08492428
83neuron cell-cell adhesion (GO:0007158)3.08430680
84cerebellar granule cell differentiation (GO:0021707)3.08324914
85regulation of vesicle fusion (GO:0031338)3.07646011
86transmission of nerve impulse (GO:0019226)3.04756844
87* membrane depolarization (GO:0051899)3.04171843
88neuromuscular process (GO:0050905)3.03590602
89neuronal ion channel clustering (GO:0045161)3.02422154
90regulation of calcium ion transmembrane transport (GO:1903169)3.00522527
91regulation of calcium ion transmembrane transporter activity (GO:1901019)3.00522527
92prepulse inhibition (GO:0060134)3.00255180
93potassium ion homeostasis (GO:0055075)3.00144691
94positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98080791
95vesicle transport along microtubule (GO:0047496)2.97196448
96plasma membrane repair (GO:0001778)2.96796229
97positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.96574457
98negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.95087829
99negative regulation of calcium ion transmembrane transport (GO:1903170)2.95087829
100gamma-aminobutyric acid signaling pathway (GO:0007214)2.94792527
101regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.94784690
102G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.94091754
103regulation of synaptic transmission, glutamatergic (GO:0051966)2.93517966
104skeletal muscle fiber development (GO:0048741)2.93434646
105dendritic spine organization (GO:0097061)2.92821655
106dendrite morphogenesis (GO:0048813)2.92702029
107sarcoplasmic reticulum calcium ion transport (GO:0070296)2.91140720
108response to auditory stimulus (GO:0010996)2.89183063
109* cardiac muscle contraction (GO:0060048)2.89181220
110regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.89070746
111regulation of synaptic transmission (GO:0050804)2.88439338
112G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.88004950
113vesicle docking involved in exocytosis (GO:0006904)2.86652415
114auditory behavior (GO:0031223)2.86563933
115positive regulation of neurotransmitter transport (GO:0051590)2.84620463
116positive regulation of potassium ion transmembrane transport (GO:1901381)2.84528058
117cerebellar Purkinje cell layer development (GO:0021680)2.84197210
118membrane hyperpolarization (GO:0060081)2.83663249
119regulation of dendritic spine development (GO:0060998)2.83626744
120innervation (GO:0060384)2.83211542
121negative regulation of dendrite morphogenesis (GO:0050774)2.83101554
122* synaptic transmission (GO:0007268)2.82425615
123regulation of cell communication by electrical coupling (GO:0010649)2.81743012
124detection of calcium ion (GO:0005513)2.81695886
125* regulation of ion transmembrane transporter activity (GO:0032412)2.81681407
126positive regulation of neurotransmitter secretion (GO:0001956)2.81441363

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.53723508
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.99241431
3* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96915128
4RARB_27405468_Chip-Seq_BRAIN_Mouse2.93510491
5DROSHA_22980978_ChIP-Seq_HELA_Human2.90348296
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.90324847
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83543916
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83543916
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67800028
10REST_21632747_ChIP-Seq_MESCs_Mouse2.65844602
11* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.62452516
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.58046206
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.52132943
14EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.48285745
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.44355847
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42724851
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.36587682
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.34315870
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31466715
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.31062050
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30293143
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.21451838
23GBX2_23144817_ChIP-Seq_PC3_Human2.19809839
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.15883800
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.02697473
26ERG_21242973_ChIP-ChIP_JURKAT_Human1.95385132
27DNAJC2_21179169_ChIP-ChIP_NT2_Human1.71669147
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.69300933
29* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.66539984
30AR_21572438_ChIP-Seq_LNCaP_Human1.64740639
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.63492217
32KDM2B_26808549_Chip-Seq_K562_Human1.62927396
33ZFP281_18757296_ChIP-ChIP_E14_Mouse1.55235311
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52535154
35EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.49028224
36RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.46563299
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.41812636
38WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.41481151
39* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.40070177
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.34004214
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.31090890
42GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28379433
43WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25032105
44SRY_22984422_ChIP-ChIP_TESTIS_Rat1.24721064
45ZNF274_21170338_ChIP-Seq_K562_Hela1.24252838
46KDM2B_26808549_Chip-Seq_SUP-B15_Human1.24052263
47SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20090011
48SMAD4_21799915_ChIP-Seq_A2780_Human1.19978310
49* AR_19668381_ChIP-Seq_PC3_Human1.16520630
50LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.16032154
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.15717791
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.14916549
53CTCF_27219007_Chip-Seq_Bcells_Human1.13825748
54ZFP281_27345836_Chip-Seq_ESCs_Mouse1.13246544
55LXR_22292898_ChIP-Seq_THP-1_Human1.09062565
56CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08406737
57GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.07865759
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.07828078
59* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07819217
60GATA1_19941827_ChIP-Seq_MEL_Mouse1.05390848
61TET1_21490601_ChIP-Seq_MESCs_Mouse1.05169194
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.03981334
63SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.03687161
64EGR1_19032775_ChIP-ChIP_M12_Human1.03627610
65RING1B_27294783_Chip-Seq_NPCs_Mouse1.02043979
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01532149
67BP1_19119308_ChIP-ChIP_Hs578T_Human1.01080910
68SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00899249
69DPY_21335234_ChIP-Seq_ESCs_Mouse1.00098551
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00025718
71CTBP2_25329375_ChIP-Seq_LNCAP_Human0.99586800
72RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99373411
73SMAD_19615063_ChIP-ChIP_OVARY_Human0.96537421
74CTBP1_25329375_ChIP-Seq_LNCAP_Human0.96483461
75AR_25329375_ChIP-Seq_VCAP_Human0.96450790
76KLF4_19829295_ChIP-Seq_ESCs_Human0.95907676
77P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95552412
78RARG_19884340_ChIP-ChIP_MEFs_Mouse0.95334254
79ESR1_20079471_ChIP-ChIP_T-47D_Human0.95241749
80SMC4_20622854_ChIP-Seq_HELA_Human0.94893624
81KDM2B_26808549_Chip-Seq_DND41_Human0.94562446
82ESR2_21235772_ChIP-Seq_MCF-7_Human0.94102247
83RXR_22108803_ChIP-Seq_LS180_Human0.92949876
84P68_20966046_ChIP-Seq_HELA_Human0.92669266
85SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92381835
86RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.91543328
87SMAD3_21741376_ChIP-Seq_HESCs_Human0.89170345
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89057711
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.88579205
90ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88289424
91SMAD3_21741376_ChIP-Seq_ESCs_Human0.88260701
92TP53_20018659_ChIP-ChIP_R1E_Mouse0.87894838
93KDM2B_26808549_Chip-Seq_JURKAT_Human0.87838565
94STAT3_23295773_ChIP-Seq_U87_Human0.87102185
95* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.86938001
96SA1_27219007_Chip-Seq_Bcells_Human0.86823268
97PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.86026888
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85592323
99TBX20_22328084_ChIP-Seq_HEART_Mouse0.84635494
100TBX20_22080862_ChIP-Seq_HEART_Mouse0.84635494
101ESR1_21235772_ChIP-Seq_MCF-7_Human0.84512347
102SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.83993647
103YAP1_20516196_ChIP-Seq_MESCs_Mouse0.83682107
104OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.83266121
105* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.82268687
106TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.82203637
107OCT4_19829295_ChIP-Seq_ESCs_Human0.82203618
108MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.81288171
109CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.80880121
110SMAD3_21741376_ChIP-Seq_EPCs_Human0.78919645
111CTCF_27219007_Chip-Seq_ERYTHROID_Human0.78859998
112EP300_21415370_ChIP-Seq_HL-1_Mouse0.78422472
113TP53_23651856_ChIP-Seq_MEFs_Mouse0.77544911
114SMAD4_21741376_ChIP-Seq_ESCs_Human0.76628170
115TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76286013
116MYC_27129775_Chip-Seq_CORNEA_Mouse0.75912599
117ARNT_22903824_ChIP-Seq_MCF-7_Human0.75806426
118CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75696007
119CREB1_26743006_Chip-Seq_LNCaP_Human0.75527880
120STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.75526215
121ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.74945722
122RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74449180
123* LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.74220499
124TCF7_22412390_ChIP-Seq_EML_Mouse0.72332214
125* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.72272741
126GATA1_19941826_ChIP-Seq_K562_Human0.71282628
127PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.70596995
128VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.69763168
129MYC_19915707_ChIP-ChIP_AK7_Human0.68978717

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.24826066
2MP0003635_abnormal_synaptic_transmissio4.16742096
3MP0004270_analgesia3.92118612
4MP0003880_abnormal_central_pattern3.89637580
5MP0009046_muscle_twitch3.29015457
6MP0009745_abnormal_behavioral_response3.24533499
7MP0002063_abnormal_learning/memory/cond3.15748394
8* MP0002064_seizures3.05991187
9MP0004145_abnormal_muscle_electrophysio2.90857281
10MP0001968_abnormal_touch/_nociception2.70736562
11MP0002822_catalepsy2.56467679
12MP0002734_abnormal_mechanical_nocicepti2.54426417
13* MP0002272_abnormal_nervous_system2.51752674
14MP0002572_abnormal_emotion/affect_behav2.47882084
15MP0000751_myopathy2.39735586
16MP0005423_abnormal_somatic_nervous2.38122320
17MP0001486_abnormal_startle_reflex2.35263857
18* MP0008569_lethality_at_weaning2.27150759
19MP0004858_abnormal_nervous_system2.19351918
20MP0001501_abnormal_sleep_pattern2.14236513
21MP0002736_abnormal_nociception_after2.08764025
22MP0003329_amyloid_beta_deposits2.03600319
23MP0002735_abnormal_chemical_nociception1.96078629
24MP0001440_abnormal_grooming_behavior1.95184893
25MP0009780_abnormal_chondrocyte_physiolo1.88765353
26MP0002067_abnormal_sensory_capabilities1.87236395
27MP0002909_abnormal_adrenal_gland1.83576479
28MP0002733_abnormal_thermal_nociception1.82210323
29MP0003646_muscle_fatigue1.81204250
30MP0001970_abnormal_pain_threshold1.80819395
31MP0004811_abnormal_neuron_physiology1.78739948
32MP0000749_muscle_degeneration1.65996583
33MP0002184_abnormal_innervation1.58639387
34MP0000747_muscle_weakness1.58072818
35MP0003879_abnormal_hair_cell1.55616107
36MP0000955_abnormal_spinal_cord1.54268816
37MP0003633_abnormal_nervous_system1.50857647
38MP0002557_abnormal_social/conspecific_i1.47123898
39MP0004885_abnormal_endolymph1.44381019
40MP0004924_abnormal_behavior1.44038561
41MP0005386_behavior/neurological_phenoty1.44038561
42* MP0002066_abnormal_motor_capabilities/c1.42404089
43MP0003075_altered_response_to1.38867065
44MP0004142_abnormal_muscle_tone1.33546064
45MP0004130_abnormal_muscle_cell1.26094396
46MP0002837_dystrophic_cardiac_calcinosis1.24913383
47* MP0002882_abnormal_neuron_morphology1.23511370
48MP0004147_increased_porphyrin_level1.20279483
49MP0000013_abnormal_adipose_tissue1.18912389
50MP0004036_abnormal_muscle_relaxation1.17403854
51MP0008961_abnormal_basal_metabolism1.15545748
52MP0005451_abnormal_body_composition1.14899140
53MP0004233_abnormal_muscle_weight1.14634655
54* MP0003631_nervous_system_phenotype1.14512010
55MP0000778_abnormal_nervous_system1.14238675
56MP0004084_abnormal_cardiac_muscle1.12914355
57MP0005646_abnormal_pituitary_gland1.09676634
58MP0003690_abnormal_glial_cell1.08289186
59MP0003123_paternal_imprinting1.06542162
60MP0002106_abnormal_muscle_physiology1.06540803
61MP0000759_abnormal_skeletal_muscle1.06258879
62MP0002269_muscular_atrophy1.04904080
63MP0001502_abnormal_circadian_rhythm1.03186748
64MP0003303_peritoneal_inflammation1.02978319
65MP0005167_abnormal_blood-brain_barrier1.02526513
66MP0005620_abnormal_muscle_contractility1.01791807
67MP0004215_abnormal_myocardial_fiber1.01492863
68MP0003283_abnormal_digestive_organ1.00834153
69MP0008874_decreased_physiological_sensi0.98664188
70MP0000920_abnormal_myelination0.98648718
71MP0000604_amyloidosis0.98478339
72MP0006036_abnormal_mitochondrial_physio0.98232492
73MP0004087_abnormal_muscle_fiber0.97486383
74MP0000750_abnormal_muscle_regeneration0.96535731
75MP0004484_altered_response_of0.96520458
76MP0008872_abnormal_physiological_respon0.95980436
77MP0005623_abnormal_meninges_morphology0.94773043
78MP0004510_myositis0.94448454
79MP0005369_muscle_phenotype0.94118212
80MP0001984_abnormal_olfaction0.91412285
81MP0002152_abnormal_brain_morphology0.90847058
82MP0005535_abnormal_body_temperature0.89372400
83MP0006276_abnormal_autonomic_nervous0.88006994
84MP0002229_neurodegeneration0.87678763
85MP0002069_abnormal_eating/drinking_beha0.85213457
86MP0003137_abnormal_impulse_conducting0.82655969
87MP0003787_abnormal_imprinting0.82275879
88MP0001177_atelectasis0.82272086
89MP0004085_abnormal_heartbeat0.81345277
90MP0003634_abnormal_glial_cell0.80071353
91MP0005330_cardiomyopathy0.76697555
92MP0001299_abnormal_eye_distance/0.75559240
93MP0004043_abnormal_pH_regulation0.74118855
94MP0001905_abnormal_dopamine_level0.73241128
95MP0005058_abnormal_lysosome_morphology0.72667346
96MP0001348_abnormal_lacrimal_gland0.71232978
97* MP0003632_abnormal_nervous_system0.69026993
98MP0002089_abnormal_postnatal_growth/wei0.67544051
99MP0005645_abnormal_hypothalamus_physiol0.66623768
100MP0005166_decreased_susceptibility_to0.66315484
101MP0001346_abnormal_lacrimal_gland0.65298097
102MP0005165_increased_susceptibility_to0.64879175
103MP0010234_abnormal_vibrissa_follicle0.63887053
104MP0002090_abnormal_vision0.63414033
105MP0003045_fibrosis0.63144129
106MP0000569_abnormal_digit_pigmentation0.63051196
107MP0003172_abnormal_lysosome_physiology0.61113804
108MP0002971_abnormal_brown_adipose0.58591081
109MP0004742_abnormal_vestibular_system0.57113432
110MP0001963_abnormal_hearing_physiology0.56151273
111MP0002332_abnormal_exercise_endurance0.56029125
112MP0001485_abnormal_pinna_reflex0.54702521
113MP0002638_abnormal_pupillary_reflex0.53914664
114MP0002972_abnormal_cardiac_muscle0.53328685
115MP0000733_abnormal_muscle_development0.53122637
116MP0001943_abnormal_respiration0.51819177

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.09345643
2Focal motor seizures (HP:0011153)6.65171227
3Visual hallucinations (HP:0002367)5.34104070
4Focal seizures (HP:0007359)5.10496010
5Action tremor (HP:0002345)4.83923861
6Exercise-induced myalgia (HP:0003738)4.37004014
7Progressive cerebellar ataxia (HP:0002073)4.23707060
8Muscle fiber splitting (HP:0003555)3.75921946
9Epileptic encephalopathy (HP:0200134)3.64190392
10Ankle clonus (HP:0011448)3.62233600
11Exercise-induced muscle cramps (HP:0003710)3.56554071
12Impaired vibration sensation in the lower limbs (HP:0002166)3.50661622
13Supranuclear gaze palsy (HP:0000605)3.49807789
14Depression (HP:0000716)3.32954580
15Gaze-evoked nystagmus (HP:0000640)3.27844271
16Dysdiadochokinesis (HP:0002075)3.27554657
17Poor eye contact (HP:0000817)3.24979312
18Muscle fiber inclusion bodies (HP:0100299)3.22223782
19Dysmetria (HP:0001310)3.15675538
20Postural instability (HP:0002172)3.13691253
21Abnormality of the lower motor neuron (HP:0002366)3.13328778
22Centrally nucleated skeletal muscle fibers (HP:0003687)3.10958056
23Myotonia (HP:0002486)3.10738912
24Broad-based gait (HP:0002136)3.10600503
25Urinary bladder sphincter dysfunction (HP:0002839)3.05950952
26* Generalized tonic-clonic seizures (HP:0002069)3.04111060
27Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.01957847
28Urinary urgency (HP:0000012)3.00570758
29Impaired social interactions (HP:0000735)2.99515835
30Abnormal social behavior (HP:0012433)2.99515835
31Dysmetric saccades (HP:0000641)2.97057403
32Hemiplegia (HP:0002301)2.95625741
33Anxiety (HP:0000739)2.92660224
34Difficulty running (HP:0009046)2.92406036
35Annular pancreas (HP:0001734)2.90253379
36Intention tremor (HP:0002080)2.87010496
37Rhabdomyolysis (HP:0003201)2.86769717
38Muscle hypertrophy of the lower extremities (HP:0008968)2.85126269
39Obstructive sleep apnea (HP:0002870)2.77214145
40Nemaline bodies (HP:0003798)2.76274988
41Impaired smooth pursuit (HP:0007772)2.74972582
42Truncal ataxia (HP:0002078)2.73914549
43* Febrile seizures (HP:0002373)2.72619512
44EMG: neuropathic changes (HP:0003445)2.71829784
45Scanning speech (HP:0002168)2.71423751
46* Absence seizures (HP:0002121)2.69977563
47Distal lower limb muscle weakness (HP:0009053)2.65901121
48Neck muscle weakness (HP:0000467)2.64856846
49Subaortic stenosis (HP:0001682)2.61520105
50Abnormality of the left ventricular outflow tract (HP:0011103)2.61520105
51Type 1 muscle fiber predominance (HP:0003803)2.59848698
52Mutism (HP:0002300)2.59279324
53Abnormal eating behavior (HP:0100738)2.59086497
54Calf muscle hypertrophy (HP:0008981)2.58981733
55Genetic anticipation (HP:0003743)2.58932950
56Papilledema (HP:0001085)2.57605087
57Cerebral hypomyelination (HP:0006808)2.55833775
58Distal arthrogryposis (HP:0005684)2.53447958
59* Atonic seizures (HP:0010819)2.51024991
60Muscle stiffness (HP:0003552)2.49202618
61Achilles tendon contracture (HP:0001771)2.49029835
62Neuronal loss in central nervous system (HP:0002529)2.46958544
63Delusions (HP:0000746)2.46151797
64Ulnar deviation of the wrist (HP:0003049)2.45884053
65Fetal akinesia sequence (HP:0001989)2.45809341
66Asymmetric septal hypertrophy (HP:0001670)2.45460721
67* Dialeptic seizures (HP:0011146)2.44445694
68Amblyopia (HP:0000646)2.44415073
69Spastic gait (HP:0002064)2.43538969
70Abnormality of ocular smooth pursuit (HP:0000617)2.40805726
71Myopathic facies (HP:0002058)2.38743837
72Torticollis (HP:0000473)2.38200925
73Impaired vibratory sensation (HP:0002495)2.35804116
74Focal dystonia (HP:0004373)2.30994580
75Rimmed vacuoles (HP:0003805)2.29721223
76Bradykinesia (HP:0002067)2.28587184
77Status epilepticus (HP:0002133)2.26457517
78EMG: myopathic abnormalities (HP:0003458)2.26244163
79Increased variability in muscle fiber diameter (HP:0003557)2.26175524
80Megalencephaly (HP:0001355)2.23906764
81Abnormality of the Achilles tendon (HP:0005109)2.23714653
82Diplopia (HP:0000651)2.23359198
83Abnormality of binocular vision (HP:0011514)2.23359198
84Hemiparesis (HP:0001269)2.23222592
85Distal lower limb amyotrophy (HP:0008944)2.22678505
86Foot dorsiflexor weakness (HP:0009027)2.21236356
87Abnormality of the foot musculature (HP:0001436)2.19259448
88Limb dystonia (HP:0002451)2.17225390
89Pointed chin (HP:0000307)2.15867323
90Stereotypic behavior (HP:0000733)2.15814148
91Hyporeflexia of lower limbs (HP:0002600)2.15637951
92Sudden death (HP:0001699)2.15456963
93Myoglobinuria (HP:0002913)2.14770093
94Abnormality of skeletal muscle fiber size (HP:0012084)2.13995532
95Increased connective tissue (HP:0009025)2.12952010
96Akinesia (HP:0002304)2.12334064
97Rapidly progressive (HP:0003678)2.12237760
98Round ear (HP:0100830)2.11838207
99Lower limb muscle weakness (HP:0007340)2.10552400
100Areflexia of lower limbs (HP:0002522)2.09865369
101Resting tremor (HP:0002322)2.09307970
102Pheochromocytoma (HP:0002666)2.08808357
103Insomnia (HP:0100785)2.08217712
104Lower limb amyotrophy (HP:0007210)2.07841896
105Abnormality of the calf musculature (HP:0001430)2.04172080
106Abnormality of saccadic eye movements (HP:0000570)2.03388120
107Rigidity (HP:0002063)2.01168762
108Apathy (HP:0000741)2.01107926
109* Bundle branch block (HP:0011710)2.00231827
110Progressive inability to walk (HP:0002505)1.98725392
111Lower limb asymmetry (HP:0100559)1.97665538
112Craniofacial dystonia (HP:0012179)1.96383799
113Clonus (HP:0002169)1.96107108
114Tetraplegia (HP:0002445)1.95941157
115Termporal pattern (HP:0011008)1.94677923
116Insidious onset (HP:0003587)1.94677923
117Neurofibrillary tangles (HP:0002185)1.93400108
118Bulbar palsy (HP:0001283)1.93113654
119Gait ataxia (HP:0002066)1.92590362
120Spinal canal stenosis (HP:0003416)1.91792562
121Slow progression (HP:0003677)1.89938572
122Atrioventricular block (HP:0001678)1.89624067
123Shoulder girdle muscle weakness (HP:0003547)1.88160019
124Mildly elevated creatine phosphokinase (HP:0008180)1.86171997
125Cerebral inclusion bodies (HP:0100314)1.86108525
126Spastic tetraparesis (HP:0001285)1.85610080
127Frequent falls (HP:0002359)1.84687874
128Difficulty climbing stairs (HP:0003551)1.84403852

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.89347101
2MAP3K93.85632993
3EPHA43.67935075
4DAPK22.86981349
5PRKD32.74299346
6MINK12.62824581
7PAK62.61559659
8MAP3K42.45904251
9KSR22.45456003
10CAMKK12.42011496
11MAP2K42.09702580
12PHKG21.99634038
13PHKG11.99634038
14STK381.91680709
15NTRK11.85364057
16PINK11.77360387
17MAP2K71.73197741
18MARK11.72228517
19RIPK41.68903078
20NTRK21.62403851
21RIPK11.55903739
22CAMKK21.52812383
23CDK191.50150414
24CDK51.43397389
25MAP3K121.42253433
26DAPK11.39646698
27NEK11.39446013
28ARAF1.34155085
29TAOK11.33506558
30KSR11.30134386
31OBSCN1.29856307
32TYRO31.29750904
33GRK51.27016933
34MAP3K111.24947008
35MAP3K131.20632802
36LMTK21.19737893
37MAP3K21.19103463
38PRKCG1.17440651
39PRPF4B1.16351439
40PRKCH1.14029964
41CAMK11.10688516
42TRIB31.07588129
43MAP3K71.04944713
44UHMK11.04055630
45ALK1.01750921
46PKN11.00643913
47STK110.99885692
48LIMK10.99352355
49PLK20.99317386
50TAOK20.95606311
51RET0.94545396
52SIK20.93885096
53NME10.93587036
54WNK10.93153559
55LATS20.93119189
56PDK10.92883612
57FES0.91923962
58PDPK10.85425191
59MOS0.84915224
60CDK150.84794367
61TTN0.84203166
62CDK180.82908922
63SGK4940.82807646
64SGK2230.82807646
65MAP3K10.80590046
66SGK30.79635934
67DMPK0.78379462
68CDK140.77538080
69PTK2B0.75010973
70CDK11A0.73844221
71RAF10.73538901
72BMPR20.73139736
73MAP2K30.72704757
74MAPK130.72374577
75CAMK2A0.71412126
76TNK20.70529058
77PAK30.65329239
78MAPKAPK30.65295427
79TNIK0.65158333
80CAMK2G0.64317593
81SGK10.62879638
82SGK20.62475421
83CAMK40.62210995
84MUSK0.61243239
85BRAF0.59067264
86DAPK30.58138892
87PIK3CG0.57441834
88PNCK0.57195762
89SCYL20.56217156
90OXSR10.55894921
91MAPK120.55454778
92RPS6KA30.54624973
93CAMK1G0.54490370
94BRSK10.53825764
95CAMK2B0.53270773
96CDC42BPA0.53149248
97MARK20.51898660
98MAP2K60.48286132
99BMX0.46439932
100ROCK10.46372980
101MAPK40.46323221
102CCNB10.45261712
103MAP2K10.44955474
104PDK40.44627003
105PDK30.44627003
106MAPK70.43370104
107MAPK100.42909467
108TESK10.42270866
109DDR20.40677093
110IRAK20.40038848
111PRKG10.39472757
112PRKG20.37968701
113NEK60.37784845
114DYRK1A0.37412461
115FYN0.36757282
116CAMK2D0.36584592
117PRKCZ0.36561925
118FER0.36251710
119ROCK20.36109008
120PDGFRA0.34226699
121IRAK30.34034368
122PRKAA10.31054473
123PRKACA0.30702028

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.14965457
2Nicotine addiction_Homo sapiens_hsa050333.02392005
3Olfactory transduction_Homo sapiens_hsa047402.61463841
4Long-term potentiation_Homo sapiens_hsa047202.58511326
5Circadian entrainment_Homo sapiens_hsa047132.51157856
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.38837227
7Glutamatergic synapse_Homo sapiens_hsa047242.38720682
8GABAergic synapse_Homo sapiens_hsa047272.36929724
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.31826094
10Amphetamine addiction_Homo sapiens_hsa050312.15938559
11Salivary secretion_Homo sapiens_hsa049702.13138294
12Morphine addiction_Homo sapiens_hsa050322.10689696
13Gastric acid secretion_Homo sapiens_hsa049712.09431321
14Nitrogen metabolism_Homo sapiens_hsa009102.08513095
15Insulin secretion_Homo sapiens_hsa049112.00663550
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89851484
17Dopaminergic synapse_Homo sapiens_hsa047281.86822199
18Oxytocin signaling pathway_Homo sapiens_hsa049211.82453569
19* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.82428149
20Cholinergic synapse_Homo sapiens_hsa047251.80811727
21Calcium signaling pathway_Homo sapiens_hsa040201.63559939
22Long-term depression_Homo sapiens_hsa047301.62630609
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.60909921
24GnRH signaling pathway_Homo sapiens_hsa049121.55854846
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.54556767
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43760000
27Renin secretion_Homo sapiens_hsa049241.43543255
28Taste transduction_Homo sapiens_hsa047421.39012081
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29025082
30Cardiac muscle contraction_Homo sapiens_hsa042601.28940520
31Type II diabetes mellitus_Homo sapiens_hsa049301.26843221
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22099634
33Gap junction_Homo sapiens_hsa045401.21108387
34cAMP signaling pathway_Homo sapiens_hsa040241.20812250
35Glioma_Homo sapiens_hsa052141.19315936
36Cocaine addiction_Homo sapiens_hsa050301.17701451
37Serotonergic synapse_Homo sapiens_hsa047261.16014695
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.15429228
39Dilated cardiomyopathy_Homo sapiens_hsa054141.12317918
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10921006
41Estrogen signaling pathway_Homo sapiens_hsa049151.10820065
42Arginine and proline metabolism_Homo sapiens_hsa003301.07096887
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.96463080
44Melanogenesis_Homo sapiens_hsa049160.96400040
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95414340
46ErbB signaling pathway_Homo sapiens_hsa040120.93067088
47Pancreatic secretion_Homo sapiens_hsa049720.91494486
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.91250608
49Collecting duct acid secretion_Homo sapiens_hsa049660.90450775
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.88495264
51Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.87504373
52Glucagon signaling pathway_Homo sapiens_hsa049220.84868790
53Dorso-ventral axis formation_Homo sapiens_hsa043200.83281551
54Thyroid hormone synthesis_Homo sapiens_hsa049180.82341518
55VEGF signaling pathway_Homo sapiens_hsa043700.81090341
56Oocyte meiosis_Homo sapiens_hsa041140.80987987
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79803715
58Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.78843973
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.77244637
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76617660
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75547424
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.75246049
63MAPK signaling pathway_Homo sapiens_hsa040100.71655259
64Bile secretion_Homo sapiens_hsa049760.71465371
65mTOR signaling pathway_Homo sapiens_hsa041500.69550467
66SNARE interactions in vesicular transport_Homo sapiens_hsa041300.69263079
67Axon guidance_Homo sapiens_hsa043600.68692734
68Insulin signaling pathway_Homo sapiens_hsa049100.66891006
69Choline metabolism in cancer_Homo sapiens_hsa052310.65609928
70Vitamin B6 metabolism_Homo sapiens_hsa007500.64993482
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64361529
72Endocytosis_Homo sapiens_hsa041440.61165454
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60507629
74Circadian rhythm_Homo sapiens_hsa047100.58391747
75Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56311316
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.55801169
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55794000
78Inositol phosphate metabolism_Homo sapiens_hsa005620.55554530
79Alzheimers disease_Homo sapiens_hsa050100.54942117
80Arginine biosynthesis_Homo sapiens_hsa002200.54013973
81Rap1 signaling pathway_Homo sapiens_hsa040150.53678926
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53653606
83Vibrio cholerae infection_Homo sapiens_hsa051100.52694429
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.51637033
85Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51620290
86Non-small cell lung cancer_Homo sapiens_hsa052230.48394064
872-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.44594336
88Ras signaling pathway_Homo sapiens_hsa040140.44301840
89Prion diseases_Homo sapiens_hsa050200.43191523
90Phototransduction_Homo sapiens_hsa047440.42490148
91Central carbon metabolism in cancer_Homo sapiens_hsa052300.42147665
92Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.38490218
93Adipocytokine signaling pathway_Homo sapiens_hsa049200.37940221
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36308632
95Renal cell carcinoma_Homo sapiens_hsa052110.36240064
96Endometrial cancer_Homo sapiens_hsa052130.35727253
97Platelet activation_Homo sapiens_hsa046110.34957830
98Mineral absorption_Homo sapiens_hsa049780.34877129
99Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34726137
100Chemokine signaling pathway_Homo sapiens_hsa040620.33014042
101Toll-like receptor signaling pathway_Homo sapiens_hsa046200.32604080
102Histidine metabolism_Homo sapiens_hsa003400.32403767
103Tight junction_Homo sapiens_hsa045300.32236092
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31807250
105Insulin resistance_Homo sapiens_hsa049310.31207778
106AMPK signaling pathway_Homo sapiens_hsa041520.30800851
107Pentose phosphate pathway_Homo sapiens_hsa000300.29764594
108Tuberculosis_Homo sapiens_hsa051520.29595559
109Rheumatoid arthritis_Homo sapiens_hsa053230.29406272
110HIF-1 signaling pathway_Homo sapiens_hsa040660.29293960
111Pertussis_Homo sapiens_hsa051330.29208453
112beta-Alanine metabolism_Homo sapiens_hsa004100.28316691
113Regulation of actin cytoskeleton_Homo sapiens_hsa048100.27442270
114Fatty acid biosynthesis_Homo sapiens_hsa000610.27110440

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