SCN8A

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





Description: This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.09881900
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.81545210
3locomotory exploration behavior (GO:0035641)5.65081641
4synaptic vesicle maturation (GO:0016188)5.52915324
5vocalization behavior (GO:0071625)5.48642706
6synaptic vesicle exocytosis (GO:0016079)5.36477428
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.33274822
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.32071607
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.29503232
10neuronal action potential propagation (GO:0019227)5.29301811
11glutamate secretion (GO:0014047)5.20999120
12regulation of glutamate receptor signaling pathway (GO:1900449)4.92596260
13regulation of synaptic vesicle exocytosis (GO:2000300)4.91135093
14protein localization to synapse (GO:0035418)4.88492983
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.88319009
16glutamate receptor signaling pathway (GO:0007215)4.81101596
17synaptic transmission, glutamatergic (GO:0035249)4.72681891
18neuron cell-cell adhesion (GO:0007158)4.54440538
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.51002423
20regulation of neuronal synaptic plasticity (GO:0048168)4.47587552
21regulation of synaptic vesicle transport (GO:1902803)4.44673946
22neuron-neuron synaptic transmission (GO:0007270)4.42254917
23exploration behavior (GO:0035640)4.40172710
24neurotransmitter secretion (GO:0007269)4.35219229
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.32461202
26neurotransmitter-gated ion channel clustering (GO:0072578)4.19292950
27regulation of excitatory postsynaptic membrane potential (GO:0060079)4.12049551
28long-term memory (GO:0007616)4.08495731
29gamma-aminobutyric acid transport (GO:0015812)4.07785596
30cellular potassium ion homeostasis (GO:0030007)4.02727370
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.01489261
32positive regulation of membrane potential (GO:0045838)3.98807007
33gamma-aminobutyric acid signaling pathway (GO:0007214)3.94558802
34dendritic spine morphogenesis (GO:0060997)3.93356605
35regulation of postsynaptic membrane potential (GO:0060078)3.91648535
36regulation of synapse structural plasticity (GO:0051823)3.88218139
37G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.84602830
38cerebellar Purkinje cell differentiation (GO:0021702)3.76565072
39transmission of nerve impulse (GO:0019226)3.75360288
40regulation of synaptic plasticity (GO:0048167)3.74326625
41positive regulation of synapse maturation (GO:0090129)3.71749082
42layer formation in cerebral cortex (GO:0021819)3.70711861
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.69123313
44regulation of dendritic spine morphogenesis (GO:0061001)3.66474331
45neuron recognition (GO:0008038)3.64118708
46amino acid import (GO:0043090)3.63912300
47negative regulation of synaptic transmission, GABAergic (GO:0032229)3.60919416
48long-term synaptic potentiation (GO:0060291)3.58520792
49neurotransmitter transport (GO:0006836)3.56463730
50presynaptic membrane assembly (GO:0097105)3.53711497
51negative regulation of dendrite morphogenesis (GO:0050774)3.50180256
52regulation of neurotransmitter secretion (GO:0046928)3.48915453
53regulation of synaptic transmission, glutamatergic (GO:0051966)3.48875145
54synaptic vesicle endocytosis (GO:0048488)3.48472278
55sodium ion export (GO:0071436)3.46445160
56proline transport (GO:0015824)3.45823078
57positive regulation of dendritic spine morphogenesis (GO:0061003)3.45336960
58neuromuscular process controlling posture (GO:0050884)3.42773669
59neuromuscular process controlling balance (GO:0050885)3.40145807
60postsynaptic membrane organization (GO:0001941)3.37816824
61presynaptic membrane organization (GO:0097090)3.37079954
62axonal fasciculation (GO:0007413)3.34791583
63positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.34625946
64regulation of vesicle fusion (GO:0031338)3.34025963
65cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.32592356
66* membrane depolarization (GO:0051899)3.31568476
67positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.30952510
68cerebellar granule cell differentiation (GO:0021707)3.30183199
69regulation of neurotransmitter levels (GO:0001505)3.28250297
70neuromuscular synaptic transmission (GO:0007274)3.27649636
71positive regulation of neurotransmitter secretion (GO:0001956)3.26161237
72serotonin metabolic process (GO:0042428)3.24840117
73regulation of synapse maturation (GO:0090128)3.24625680
74membrane hyperpolarization (GO:0060081)3.24349069
75behavioral fear response (GO:0001662)3.23823249
76behavioral defense response (GO:0002209)3.23823249
77phosphorelay signal transduction system (GO:0000160)3.23484274
78activation of protein kinase A activity (GO:0034199)3.23391138
79regulation of neurotransmitter transport (GO:0051588)3.21906745
80axon ensheathment in central nervous system (GO:0032291)3.21577700
81central nervous system myelination (GO:0022010)3.21577700
82potassium ion homeostasis (GO:0055075)3.21010822
83learning (GO:0007612)3.18462842
84L-amino acid import (GO:0043092)3.16621588
85regulation of dendritic spine development (GO:0060998)3.16483988
86* membrane depolarization during action potential (GO:0086010)3.16365175
87regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.16338405
88positive regulation of neurotransmitter transport (GO:0051590)3.16298320
89response to histamine (GO:0034776)3.15601104
90dendritic spine organization (GO:0097061)3.14772973
91neuronal ion channel clustering (GO:0045161)3.13532467
92negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.12632979
93G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.11999111
94innervation (GO:0060384)3.11384951
95startle response (GO:0001964)3.10553063
96glycine transport (GO:0015816)3.09909347
97cell communication by electrical coupling (GO:0010644)3.09229648
98dendrite morphogenesis (GO:0048813)3.09082067
99synaptic transmission (GO:0007268)3.09026647
100fear response (GO:0042596)3.08829023
101regulation of synaptic transmission (GO:0050804)3.07350045
102positive regulation of synaptic transmission, GABAergic (GO:0032230)3.06438439
103negative regulation of cytosolic calcium ion concentration (GO:0051481)3.05630431
104long term synaptic depression (GO:0060292)3.05542930
105chemosensory behavior (GO:0007635)3.05125958
106cellular sodium ion homeostasis (GO:0006883)3.05121465
107positive regulation of dendritic spine development (GO:0060999)3.04706161
108regulation of voltage-gated calcium channel activity (GO:1901385)3.04237620
109auditory behavior (GO:0031223)3.03513252
110cell migration in hindbrain (GO:0021535)3.02371137
111behavioral response to cocaine (GO:0048148)3.01292206
112potassium ion import (GO:0010107)3.00693310
113positive regulation of synaptic transmission (GO:0050806)2.99916702
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.99460565
115* neuromuscular process (GO:0050905)2.98112377
116response to auditory stimulus (GO:0010996)2.97851827
117cell differentiation in hindbrain (GO:0021533)2.96953755
118mechanosensory behavior (GO:0007638)2.93272002
119positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.89297135
120primary amino compound metabolic process (GO:1901160)2.84917279

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.31777425
2GBX2_23144817_ChIP-Seq_PC3_Human3.88298059
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17519465
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11437721
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09907862
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.75985090
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.75985090
8* REST_21632747_ChIP-Seq_MESCs_Mouse2.71377210
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66104822
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64127148
11DROSHA_22980978_ChIP-Seq_HELA_Human2.58561698
12* RARB_27405468_Chip-Seq_BRAIN_Mouse2.58245134
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52706889
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52408739
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48421481
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47336988
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.47076306
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.32610500
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.23247777
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22771774
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.20114561
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.17465155
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.10093004
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02592741
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.88354301
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83410562
27TAF15_26573619_Chip-Seq_HEK293_Human1.83189233
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80719770
29AR_21572438_ChIP-Seq_LNCaP_Human1.79843522
30* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.77410890
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.74894664
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73561540
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.72511848
34SMAD4_21799915_ChIP-Seq_A2780_Human1.72500138
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.68298952
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.53457089
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50307146
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.46399391
39P300_19829295_ChIP-Seq_ESCs_Human1.43285268
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38941897
41ZNF274_21170338_ChIP-Seq_K562_Hela1.38780274
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36531982
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.36188013
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.35613325
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34776770
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30134887
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.29650080
48* STAT3_23295773_ChIP-Seq_U87_Human1.29383687
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29239494
50AR_25329375_ChIP-Seq_VCAP_Human1.27130261
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25680584
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.25661342
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.24675747
54* RING1B_27294783_Chip-Seq_ESCs_Mouse1.23767309
55* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22028734
56OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20937664
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.20382060
58BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20194053
59* AR_19668381_ChIP-Seq_PC3_Human1.19605804
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19569496
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17711221
62* TCF4_23295773_ChIP-Seq_U87_Human1.15149219
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14035834
64* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12122027
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10107525
66CTNNB1_20460455_ChIP-Seq_HCT116_Human1.09935965
67SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.09792953
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09637480
69ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09525343
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.08881374
71LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07233792
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.07105185
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06874587
74SOX9_26525672_Chip-Seq_HEART_Mouse1.06329703
75RNF2_27304074_Chip-Seq_NSC_Mouse1.06108320
76MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.06088766
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05993972
78CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05933983
79DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05817437
80TP53_16413492_ChIP-PET_HCT116_Human1.04993077
81FUS_26573619_Chip-Seq_HEK293_Human1.04980585
82AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03827686
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03095733
84YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03020086
85AHR_22903824_ChIP-Seq_MCF-7_Human1.02567307
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.01928000
87IGF1R_20145208_ChIP-Seq_DFB_Human1.01307138
88PRDM14_20953172_ChIP-Seq_ESCs_Human1.00787262
89* RUNX2_22187159_ChIP-Seq_PCA_Human0.98631521
90NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97664148
91KDM2B_26808549_Chip-Seq_REH_Human0.97399776
92ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95981101
93TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95115662
94UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.94837863
95TP53_18474530_ChIP-ChIP_U2OS_Human0.94774422
96TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94569029
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94569029
98SMAD3_21741376_ChIP-Seq_HESCs_Human0.93702825
99SMAD3_21741376_ChIP-Seq_ESCs_Human0.93537958
100WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.93519667
101TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93402632
102OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.93268243
103ZFP281_18757296_ChIP-ChIP_E14_Mouse0.93231658
104PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.92793118
105RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92118018
106GATA1_26923725_Chip-Seq_HPCs_Mouse0.92002687
107TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91900593
108NANOG_18555785_Chip-Seq_ESCs_Mouse0.91702152
109KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.91409499
110CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91136306
111STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.90949610
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.89995384
113* KDM2B_26808549_Chip-Seq_K562_Human0.89927424
114VDR_22108803_ChIP-Seq_LS180_Human0.89087988
115ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.87706935
116TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87450315
117JUN_21703547_ChIP-Seq_K562_Human0.87082543

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.80929248
2MP0003880_abnormal_central_pattern5.33479902
3* MP0003635_abnormal_synaptic_transmissio4.26833233
4MP0004270_analgesia3.88280610
5* MP0009745_abnormal_behavioral_response3.56436068
6MP0002063_abnormal_learning/memory/cond3.38922937
7* MP0002064_seizures3.29060636
8* MP0009046_muscle_twitch3.19149334
9MP0001968_abnormal_touch/_nociception3.07674459
10* MP0002572_abnormal_emotion/affect_behav2.85278083
11* MP0002272_abnormal_nervous_system2.81924142
12MP0002734_abnormal_mechanical_nocicepti2.67086040
13MP0005423_abnormal_somatic_nervous2.65641244
14MP0002822_catalepsy2.64776526
15* MP0001486_abnormal_startle_reflex2.60515856
16MP0001501_abnormal_sleep_pattern2.47148450
17MP0002736_abnormal_nociception_after2.43237736
18MP0002735_abnormal_chemical_nociception2.38399930
19MP0001440_abnormal_grooming_behavior2.19363643
20MP0008569_lethality_at_weaning2.09217695
21* MP0002067_abnormal_sensory_capabilities2.09081989
22MP0002733_abnormal_thermal_nociception1.98366018
23MP0001970_abnormal_pain_threshold1.95210177
24MP0002184_abnormal_innervation1.84506177
25MP0003329_amyloid_beta_deposits1.81319526
26MP0000778_abnormal_nervous_system1.76627097
27MP0002557_abnormal_social/conspecific_i1.72724905
28MP0009780_abnormal_chondrocyte_physiolo1.71364469
29MP0004811_abnormal_neuron_physiology1.69463039
30MP0005646_abnormal_pituitary_gland1.68869700
31MP0003879_abnormal_hair_cell1.68344324
32MP0001984_abnormal_olfaction1.59268697
33* MP0005386_behavior/neurological_phenoty1.59128309
34* MP0004924_abnormal_behavior1.59128309
35MP0004858_abnormal_nervous_system1.58122845
36MP0000955_abnormal_spinal_cord1.58069485
37MP0003787_abnormal_imprinting1.53289692
38MP0002909_abnormal_adrenal_gland1.49875426
39MP0006276_abnormal_autonomic_nervous1.48138634
40MP0004885_abnormal_endolymph1.47956143
41MP0004142_abnormal_muscle_tone1.46164684
42* MP0002066_abnormal_motor_capabilities/c1.45569036
43* MP0002882_abnormal_neuron_morphology1.45236689
44MP0001529_abnormal_vocalization1.32077341
45MP0001502_abnormal_circadian_rhythm1.32057167
46* MP0003633_abnormal_nervous_system1.29418549
47MP0003123_paternal_imprinting1.27401696
48MP0001188_hyperpigmentation1.26881710
49MP0001905_abnormal_dopamine_level1.25404994
50MP0004145_abnormal_muscle_electrophysio1.24871920
51MP0005645_abnormal_hypothalamus_physiol1.23958703
52MP0008877_abnormal_DNA_methylation1.17062528
53* MP0003631_nervous_system_phenotype1.14269500
54* MP0002152_abnormal_brain_morphology1.08358552
55* MP0002229_neurodegeneration1.04859003
56MP0004742_abnormal_vestibular_system1.03180459
57MP0008872_abnormal_physiological_respon1.01938959
58* MP0005551_abnormal_eye_electrophysiolog1.01755863
59MP0003121_genomic_imprinting0.95179000
60MP0008874_decreased_physiological_sensi0.93659756
61MP0003122_maternal_imprinting0.92681268
62MP0003632_abnormal_nervous_system0.91992301
63MP0002069_abnormal_eating/drinking_beha0.91630213
64MP0003690_abnormal_glial_cell0.90308184
65MP0001177_atelectasis0.90211260
66MP0010386_abnormal_urinary_bladder0.88558081
67* MP0000920_abnormal_myelination0.88061440
68MP0001348_abnormal_lacrimal_gland0.86551061
69MP0005409_darkened_coat_color0.85216765
70* MP0001963_abnormal_hearing_physiology0.84915900
71MP0004085_abnormal_heartbeat0.82636878
72MP0005623_abnormal_meninges_morphology0.82436121
73MP0003634_abnormal_glial_cell0.82245200
74* MP0002752_abnormal_somatic_nervous0.79634364
75MP0003075_altered_response_to0.79550504
76MP0005394_taste/olfaction_phenotype0.77322350
77MP0005499_abnormal_olfactory_system0.77322350
78MP0005535_abnormal_body_temperature0.76411469
79MP0005171_absent_coat_pigmentation0.75771308
80MP0000604_amyloidosis0.75059952
81MP0000569_abnormal_digit_pigmentation0.73778500
82MP0004215_abnormal_myocardial_fiber0.71987418
83MP0000631_abnormal_neuroendocrine_gland0.71790835
84MP0004510_myositis0.71620916
85MP0000566_synostosis0.70275265
86MP0005187_abnormal_penis_morphology0.68996235
87MP0004484_altered_response_of0.68987861
88MP0000013_abnormal_adipose_tissue0.68653758
89MP0002837_dystrophic_cardiac_calcinosis0.67608363
90MP0003283_abnormal_digestive_organ0.66097447
91MP0002876_abnormal_thyroid_physiology0.65431742
92MP0002638_abnormal_pupillary_reflex0.64354352
93MP0002751_abnormal_autonomic_nervous0.63829565
94MP0002090_abnormal_vision0.62540862
95MP0001664_abnormal_digestion0.61166818
96MP0003137_abnormal_impulse_conducting0.60863997
97MP0008961_abnormal_basal_metabolism0.60597098
98MP0001346_abnormal_lacrimal_gland0.60411959
99MP0004147_increased_porphyrin_level0.59862235
100MP0004043_abnormal_pH_regulation0.57064388
101MP0002081_perinatal_lethality0.57008078
102MP0003385_abnormal_body_wall0.55349394
103MP0004233_abnormal_muscle_weight0.55197830
104MP0000534_abnormal_ureter_morphology0.55021271
105* MP0010769_abnormal_survival0.54019123
106MP0000026_abnormal_inner_ear0.52379041
107MP0005167_abnormal_blood-brain_barrier0.51941978
108MP0001299_abnormal_eye_distance/0.51909272
109* MP0003861_abnormal_nervous_system0.51672675
110* MP0002082_postnatal_lethality0.51442160
111* MP0010770_preweaning_lethality0.51442160
112* MP0001943_abnormal_respiration0.51401402
113* MP0010768_mortality/aging0.51013950
114MP0003119_abnormal_digestive_system0.50165690
115MP0001986_abnormal_taste_sensitivity0.49915882
116* MP0003956_abnormal_body_size0.48804013
117MP0000639_abnormal_adrenal_gland0.47576116
118MP0004133_heterotaxia0.45964450

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.82240796
2Myokymia (HP:0002411)7.11746211
3Focal seizures (HP:0007359)6.21227709
4Atonic seizures (HP:0010819)5.33111185
5Febrile seizures (HP:0002373)5.16452033
6Visual hallucinations (HP:0002367)5.09411819
7Progressive cerebellar ataxia (HP:0002073)4.95252318
8* Epileptic encephalopathy (HP:0200134)4.71563994
9Absence seizures (HP:0002121)4.57859905
10Action tremor (HP:0002345)4.35981680
11Dialeptic seizures (HP:0011146)4.23770362
12Generalized tonic-clonic seizures (HP:0002069)4.09564688
13Broad-based gait (HP:0002136)3.92325359
14Hyperventilation (HP:0002883)3.63547573
15Supranuclear gaze palsy (HP:0000605)3.60589750
16Dysdiadochokinesis (HP:0002075)3.53368229
17Poor eye contact (HP:0000817)3.47708130
18* Gaze-evoked nystagmus (HP:0000640)3.46173279
19Impaired vibration sensation in the lower limbs (HP:0002166)3.33086940
20Scanning speech (HP:0002168)3.31709272
21* Dysmetria (HP:0001310)3.25043244
22Truncal ataxia (HP:0002078)3.22401778
23Impaired social interactions (HP:0000735)3.13539070
24Abnormal social behavior (HP:0012433)3.13539070
25Ankle clonus (HP:0011448)3.11580133
26Depression (HP:0000716)3.11571414
27Impaired smooth pursuit (HP:0007772)3.08742211
28Urinary bladder sphincter dysfunction (HP:0002839)3.07093336
29Genetic anticipation (HP:0003743)3.03043769
30Anxiety (HP:0000739)2.99491713
31Postural instability (HP:0002172)2.86149265
32Hemiparesis (HP:0001269)2.84720669
33Abnormal eating behavior (HP:0100738)2.80355588
34Epileptiform EEG discharges (HP:0011182)2.73364899
35Excessive salivation (HP:0003781)2.72028814
36Drooling (HP:0002307)2.72028814
37Intention tremor (HP:0002080)2.67489261
38Spastic gait (HP:0002064)2.66349000
39Diplopia (HP:0000651)2.64066047
40Abnormality of binocular vision (HP:0011514)2.64066047
41Abnormality of ocular smooth pursuit (HP:0000617)2.63467561
42Abnormality of the lower motor neuron (HP:0002366)2.63441127
43Hemiplegia (HP:0002301)2.61176487
44Dysmetric saccades (HP:0000641)2.59366954
45Absent speech (HP:0001344)2.59205337
46Obstructive sleep apnea (HP:0002870)2.56160105
47Urinary urgency (HP:0000012)2.54474129
48Stereotypic behavior (HP:0000733)2.50930176
49Status epilepticus (HP:0002133)2.50150681
50EEG with generalized epileptiform discharges (HP:0011198)2.49052199
51Neurofibrillary tangles (HP:0002185)2.46839258
52Mutism (HP:0002300)2.45727315
53Sleep apnea (HP:0010535)2.41479606
54Bradykinesia (HP:0002067)2.39358015
55Progressive inability to walk (HP:0002505)2.38674655
56Fetal akinesia sequence (HP:0001989)2.38349679
57Cerebral hypomyelination (HP:0006808)2.37549963
58Cerebral inclusion bodies (HP:0100314)2.35809099
59Impaired vibratory sensation (HP:0002495)2.34107338
60Torticollis (HP:0000473)2.33879016
61Papilledema (HP:0001085)2.31254193
62Hypsarrhythmia (HP:0002521)2.30267122
63Focal dystonia (HP:0004373)2.26522864
64Generalized myoclonic seizures (HP:0002123)2.25524463
65Termporal pattern (HP:0011008)2.25282155
66Insidious onset (HP:0003587)2.25282155
67Annular pancreas (HP:0001734)2.24609954
68Abnormality of the corticospinal tract (HP:0002492)2.22143588
69Ventricular fibrillation (HP:0001663)2.21240358
70* Amblyopia (HP:0000646)2.19470439
71Blue irides (HP:0000635)2.17010349
72Pheochromocytoma (HP:0002666)2.14893270
73Inability to walk (HP:0002540)2.13622827
74Megalencephaly (HP:0001355)2.13598293
75Lower limb muscle weakness (HP:0007340)2.07721935
76Incomplete penetrance (HP:0003829)2.06702286
77Gait ataxia (HP:0002066)2.05803424
78Abnormality of saccadic eye movements (HP:0000570)1.98279576
79Akinesia (HP:0002304)1.98185214
80Protruding tongue (HP:0010808)1.96068991
81Tetraplegia (HP:0002445)1.95116121
82Craniofacial dystonia (HP:0012179)1.93507287
83Peripheral hypomyelination (HP:0007182)1.91110632
84Insomnia (HP:0100785)1.89170695
85Hypoventilation (HP:0002791)1.88314272
86Pointed chin (HP:0000307)1.86968313
87Abnormality of salivation (HP:0100755)1.85430400
88Psychosis (HP:0000709)1.85210487
89Morphological abnormality of the pyramidal tract (HP:0002062)1.84084562
90Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.83857981
91Hepatoblastoma (HP:0002884)1.83130533
92Neuroendocrine neoplasm (HP:0100634)1.83096116
93Agitation (HP:0000713)1.81012623
94Retinal dysplasia (HP:0007973)1.78874255
95Abnormality of the labia minora (HP:0012880)1.78205192
96Neuronal loss in central nervous system (HP:0002529)1.78200151
97Aplasia involving bones of the extremities (HP:0009825)1.76784735
98Aplasia involving bones of the upper limbs (HP:0009823)1.76784735
99Aplasia of the phalanges of the hand (HP:0009802)1.76784735
100Thickened helices (HP:0000391)1.76228572
101Overgrowth (HP:0001548)1.75245962
102Bronchomalacia (HP:0002780)1.74824116
103Delusions (HP:0000746)1.74740088
104Clonus (HP:0002169)1.74187127
105Lower limb asymmetry (HP:0100559)1.73850928
106Turricephaly (HP:0000262)1.72564525
107Specific learning disability (HP:0001328)1.72486609
108Polyphagia (HP:0002591)1.72171426
109Degeneration of the lateral corticospinal tracts (HP:0002314)1.70315542
110Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.70315542
111CNS hypomyelination (HP:0003429)1.70299149
112Rigidity (HP:0002063)1.69699190
113Abnormal EKG (HP:0003115)1.69358756
114Spastic tetraplegia (HP:0002510)1.69342301
115Limb ataxia (HP:0002070)1.67852000
116Aqueductal stenosis (HP:0002410)1.67564319
117Limb dystonia (HP:0002451)1.64933187
118Inappropriate behavior (HP:0000719)1.64469459
119Shallow orbits (HP:0000586)1.64026643
120Widely spaced teeth (HP:0000687)1.63871470
121Spastic tetraparesis (HP:0001285)1.57470631

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.01885960
2EPHA44.91710956
3MAP3K93.56437423
4MAP3K42.96348599
5MAP2K72.56274255
6MINK12.55822315
7DAPK22.48315169
8RIPK42.46977753
9MARK12.23101059
10PAK62.17227094
11CASK2.11600417
12PRPF4B2.09774377
13TNIK2.00224927
14KSR21.95498139
15MAP3K121.85818268
16MAP2K41.84445426
17NTRK21.84420418
18CDK191.78319974
19CAMKK11.77487016
20NTRK11.69583041
21PRKD31.69268223
22DAPK11.68756217
23KSR11.54125878
24CDK51.52963538
25PLK21.44559876
26STK381.39945047
27PNCK1.38034780
28CAMKK21.32661214
29ARAF1.31955192
30MAP3K131.30412947
31FES1.29558917
32PRKCG1.28204561
33MAPK131.26278421
34SIK21.24448960
35GRK51.20770132
36BMPR21.15291762
37OXSR11.14361838
38CAMK2A1.07061813
39CAMK2B1.06991181
40MAP3K21.06979197
41UHMK11.01751161
42SGK4941.00035679
43SGK2231.00035679
44TYRO30.99703593
45CAMK10.93938433
46SGK20.90271017
47PTK2B0.88062323
48CDK180.87257510
49PINK10.86972723
50RIPK10.86116068
51CDK150.85404381
52STK110.84335032
53RAF10.82836722
54CDK140.81351358
55FGFR20.76920731
56SGK10.75797787
57WNK10.75730480
58CDK11A0.74032869
59PRKCH0.72957082
60NEK60.71888426
61SGK30.71489112
62TNK20.71425004
63NME10.68797187
64PDK10.67792818
65PHKG10.67395703
66PHKG20.67395703
67FRK0.67336495
68RET0.67203134
69DYRK1A0.66170148
70PDPK10.64971754
71PKN10.64320578
72MARK20.63757466
73TAOK10.63578533
74BRSK10.62661084
75CAMK2D0.61881170
76CSNK1G20.58339645
77PAK30.57760852
78AKT30.57367752
79CAMK2G0.55975284
80LMTK20.54788440
81CSNK1A1L0.54274235
82PRKCE0.53365189
83PDGFRA0.52481464
84CCNB10.50888440
85LATS20.50705280
86MAP3K10.50493941
87CDC42BPA0.50183845
88CAMK1D0.49714229
89RPS6KA30.48555531
90MUSK0.47034263
91MAP3K70.46944284
92FGR0.46669193
93ALK0.46165530
94STK390.45694619
95MAPK100.44412572
96CSNK1D0.44319807
97CSNK1G30.43483409
98PRKG10.43478092
99BRAF0.43473422
100FYN0.43226825
101PTK20.43090294
102CAMK1G0.42906675
103PRKCZ0.42717263
104ROCK20.42381795
105CSNK1E0.41956325
106FER0.41180793
107CAMK40.40469167
108ADRBK20.40414991
109LIMK10.39614077
110ROCK10.39190052
111DYRK20.37924180
112CSNK1G10.37440776
113BCR0.36716404
114MAP2K10.35687436
115GSK3B0.33585647
116PRKCB0.32541388
117ERBB20.31793960
118MAP3K60.31200503
119DAPK30.30664450
120CSNK1A10.30621759
121PRKCA0.30210128
122MAPK80.27848039
123PRKDC0.26157026

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.07082473
2Synaptic vesicle cycle_Homo sapiens_hsa047213.19001248
3Long-term potentiation_Homo sapiens_hsa047202.89944322
4Circadian entrainment_Homo sapiens_hsa047132.87303741
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.85187999
6Glutamatergic synapse_Homo sapiens_hsa047242.81937212
7GABAergic synapse_Homo sapiens_hsa047272.73384583
8Olfactory transduction_Homo sapiens_hsa047402.70997629
9Morphine addiction_Homo sapiens_hsa050322.60084305
10Amphetamine addiction_Homo sapiens_hsa050312.55968776
11Salivary secretion_Homo sapiens_hsa049702.33599319
12Dopaminergic synapse_Homo sapiens_hsa047282.18491634
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13798254
14Insulin secretion_Homo sapiens_hsa049112.03136687
15Taste transduction_Homo sapiens_hsa047421.94349189
16Gastric acid secretion_Homo sapiens_hsa049711.91742608
17Cholinergic synapse_Homo sapiens_hsa047251.89634201
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.88386555
19Long-term depression_Homo sapiens_hsa047301.86368200
20Calcium signaling pathway_Homo sapiens_hsa040201.72397251
21Serotonergic synapse_Homo sapiens_hsa047261.71052560
22Renin secretion_Homo sapiens_hsa049241.70385250
23Oxytocin signaling pathway_Homo sapiens_hsa049211.69393102
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62911845
25Cocaine addiction_Homo sapiens_hsa050301.55334887
26GnRH signaling pathway_Homo sapiens_hsa049121.45795502
27Collecting duct acid secretion_Homo sapiens_hsa049661.44195988
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.43314421
29cAMP signaling pathway_Homo sapiens_hsa040241.35718787
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31597445
31Gap junction_Homo sapiens_hsa045401.30257602
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.28399832
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26088424
34Type II diabetes mellitus_Homo sapiens_hsa049301.16822560
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14279450
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.12477904
37Axon guidance_Homo sapiens_hsa043601.10827371
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08303068
39Estrogen signaling pathway_Homo sapiens_hsa049151.08243285
40Vitamin B6 metabolism_Homo sapiens_hsa007501.08197788
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06480844
42Phototransduction_Homo sapiens_hsa047441.04625121
43Glioma_Homo sapiens_hsa052141.04067569
44ErbB signaling pathway_Homo sapiens_hsa040121.01349434
45Melanogenesis_Homo sapiens_hsa049161.01331308
46Pancreatic secretion_Homo sapiens_hsa049720.99209584
47Cardiac muscle contraction_Homo sapiens_hsa042600.98725095
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.97270298
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.95535202
50Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.93223850
51Vibrio cholerae infection_Homo sapiens_hsa051100.88735694
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.87239354
53Oocyte meiosis_Homo sapiens_hsa041140.83094944
54Thyroid hormone synthesis_Homo sapiens_hsa049180.79184154
55Choline metabolism in cancer_Homo sapiens_hsa052310.77396611
56Dorso-ventral axis formation_Homo sapiens_hsa043200.76546293
57MAPK signaling pathway_Homo sapiens_hsa040100.71533340
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70504473
59Hippo signaling pathway_Homo sapiens_hsa043900.67792874
60Dilated cardiomyopathy_Homo sapiens_hsa054140.67227142
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66013781
62Nitrogen metabolism_Homo sapiens_hsa009100.65450425
63Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.63369395
64VEGF signaling pathway_Homo sapiens_hsa043700.60945440
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.60334431
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60055188
67Ras signaling pathway_Homo sapiens_hsa040140.59301617
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58680627
69Inositol phosphate metabolism_Homo sapiens_hsa005620.57705246
70Circadian rhythm_Homo sapiens_hsa047100.56476227
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.54550587
72Rap1 signaling pathway_Homo sapiens_hsa040150.54334061
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.52131804
74Glucagon signaling pathway_Homo sapiens_hsa049220.51821774
75Hedgehog signaling pathway_Homo sapiens_hsa043400.50850880
76Tight junction_Homo sapiens_hsa045300.50403099
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48405888
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47369140
79African trypanosomiasis_Homo sapiens_hsa051430.45983077
80Alzheimers disease_Homo sapiens_hsa050100.45938979
81Bile secretion_Homo sapiens_hsa049760.43398177
82Alcoholism_Homo sapiens_hsa050340.43338856
83Type I diabetes mellitus_Homo sapiens_hsa049400.42044724
84Endocytosis_Homo sapiens_hsa041440.41339406
85Wnt signaling pathway_Homo sapiens_hsa043100.41255298
86mTOR signaling pathway_Homo sapiens_hsa041500.40474075
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37993077
88Ovarian steroidogenesis_Homo sapiens_hsa049130.36798503
89Non-small cell lung cancer_Homo sapiens_hsa052230.36705095
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34377318
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33436665
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33297091
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33200426
94Renal cell carcinoma_Homo sapiens_hsa052110.31692006
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30800242
96Chemokine signaling pathway_Homo sapiens_hsa040620.30573120
97Prion diseases_Homo sapiens_hsa050200.30209072
98Fatty acid biosynthesis_Homo sapiens_hsa000610.29342969
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29164619
100Arginine biosynthesis_Homo sapiens_hsa002200.28914820
101Endometrial cancer_Homo sapiens_hsa052130.27765963
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27290186
103ECM-receptor interaction_Homo sapiens_hsa045120.27034798
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.26962112
105AMPK signaling pathway_Homo sapiens_hsa041520.26738729
106Glycerophospholipid metabolism_Homo sapiens_hsa005640.26492383
107Insulin signaling pathway_Homo sapiens_hsa049100.26426844
108Melanoma_Homo sapiens_hsa052180.26040966
109Protein digestion and absorption_Homo sapiens_hsa049740.26040326
110Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25996100
111Arginine and proline metabolism_Homo sapiens_hsa003300.25317275
112Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25016083
113Basal cell carcinoma_Homo sapiens_hsa052170.24311546
114Focal adhesion_Homo sapiens_hsa045100.21203034
115Butanoate metabolism_Homo sapiens_hsa006500.19907315

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »