SCN1A

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-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.99271746
2synaptic vesicle exocytosis (GO:0016079)5.80744470
3vocalization behavior (GO:0071625)5.77210508
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.68376374
5* neuronal action potential propagation (GO:0019227)5.46613664
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.32233850
7regulation of synaptic vesicle exocytosis (GO:2000300)5.24396472
8glutamate secretion (GO:0014047)5.23427068
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.19291597
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.06367691
11neuron cell-cell adhesion (GO:0007158)5.03926372
12synaptic vesicle maturation (GO:0016188)4.98137386
13regulation of glutamate receptor signaling pathway (GO:1900449)4.92264117
14central nervous system myelination (GO:0022010)4.90673965
15axon ensheathment in central nervous system (GO:0032291)4.90673965
16neurotransmitter secretion (GO:0007269)4.90276632
17locomotory exploration behavior (GO:0035641)4.90014287
18gamma-aminobutyric acid transport (GO:0015812)4.87325170
19protein localization to synapse (GO:0035418)4.86590006
20positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.81714619
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.76665360
22glutamate receptor signaling pathway (GO:0007215)4.70012562
23neuron-neuron synaptic transmission (GO:0007270)4.69753538
24synaptic transmission, glutamatergic (GO:0035249)4.69590320
25regulation of synaptic vesicle transport (GO:1902803)4.67616811
26gamma-aminobutyric acid signaling pathway (GO:0007214)4.63806669
27negative regulation of synaptic transmission, GABAergic (GO:0032229)4.43722488
28presynaptic membrane assembly (GO:0097105)4.29843289
29neurotransmitter-gated ion channel clustering (GO:0072578)4.28511689
30C4-dicarboxylate transport (GO:0015740)4.27213816
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.19176755
32regulation of long-term neuronal synaptic plasticity (GO:0048169)4.10419287
33presynaptic membrane organization (GO:0097090)4.07560962
34postsynaptic membrane organization (GO:0001941)4.04617868
35positive regulation of membrane potential (GO:0045838)4.03425101
36regulation of neuronal synaptic plasticity (GO:0048168)4.03066193
37neurotransmitter transport (GO:0006836)4.01974293
38cerebellar Purkinje cell differentiation (GO:0021702)4.00068326
39long-term memory (GO:0007616)3.99563242
40exploration behavior (GO:0035640)3.98582355
41regulation of excitatory postsynaptic membrane potential (GO:0060079)3.96204729
42L-amino acid import (GO:0043092)3.92247189
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.86917304
44regulation of postsynaptic membrane potential (GO:0060078)3.78976063
45response to histamine (GO:0034776)3.76297761
46G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.73408441
47cellular potassium ion homeostasis (GO:0030007)3.71714060
48transmission of nerve impulse (GO:0019226)3.69361110
49regulation of neurotransmitter levels (GO:0001505)3.68164153
50cerebellar granule cell differentiation (GO:0021707)3.63744765
51serotonin metabolic process (GO:0042428)3.62555038
52positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.62536557
53positive regulation of synapse maturation (GO:0090129)3.61013449
54long-term synaptic potentiation (GO:0060291)3.59186762
55regulation of neurotransmitter secretion (GO:0046928)3.58149435
56potassium ion import (GO:0010107)3.57466823
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.57340101
58startle response (GO:0001964)3.55317595
59proline transport (GO:0015824)3.54968680
60amino acid import (GO:0043090)3.52049855
61regulation of synaptic plasticity (GO:0048167)3.50485341
62cochlea development (GO:0090102)3.49316440
63neuron recognition (GO:0008038)3.47209208
64regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.45109100
65positive regulation of neurotransmitter transport (GO:0051590)3.40356855
66cellular sodium ion homeostasis (GO:0006883)3.39515220
67primary amino compound metabolic process (GO:1901160)3.38120282
68* neuromuscular process controlling posture (GO:0050884)3.37552300
69negative regulation of dendrite morphogenesis (GO:0050774)3.36821400
70positive regulation of synaptic transmission, GABAergic (GO:0032230)3.36683396
71regulation of neurotransmitter transport (GO:0051588)3.34479945
72regulation of synapse structural plasticity (GO:0051823)3.33917714
73membrane hyperpolarization (GO:0060081)3.32467985
74* membrane depolarization (GO:0051899)3.30996958
75synaptic transmission (GO:0007268)3.29080326
76negative regulation of astrocyte differentiation (GO:0048712)3.28263631
77neurotransmitter uptake (GO:0001504)3.27142377
78activation of protein kinase A activity (GO:0034199)3.27057224
79positive regulation of neurotransmitter secretion (GO:0001956)3.26231165
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.25761704
81regulation of vesicle fusion (GO:0031338)3.24711183
82negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.22477217
83* membrane depolarization during action potential (GO:0086010)3.21337702
84glycine transport (GO:0015816)3.19074234
85synaptic vesicle endocytosis (GO:0048488)3.17686850
86regulation of synaptic transmission, GABAergic (GO:0032228)3.16665272
87learning (GO:0007612)3.16294067
88neuromuscular synaptic transmission (GO:0007274)3.16278024
89mechanosensory behavior (GO:0007638)3.15775430
90behavioral response to cocaine (GO:0048148)3.15432649
91regulation of voltage-gated calcium channel activity (GO:1901385)3.14088669
92potassium ion homeostasis (GO:0055075)3.12067141
93detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.11708948
94synapse assembly (GO:0007416)3.10973172
95positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.10598168
96regulation of synaptic transmission (GO:0050804)3.09791906
97regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.08594951
98* adult walking behavior (GO:0007628)3.08088563
99positive regulation of synaptic transmission (GO:0050806)3.07653266
100positive regulation of synapse assembly (GO:0051965)3.06891158
101layer formation in cerebral cortex (GO:0021819)3.06252152
102calcium ion-dependent exocytosis (GO:0017156)3.05928217
103striatum development (GO:0021756)3.05852166
104neuromuscular process controlling balance (GO:0050885)3.04577773
105axonal fasciculation (GO:0007413)3.03605023
106negative regulation of dendrite development (GO:2000171)3.02825799
107dendritic spine morphogenesis (GO:0060997)3.00495938
108regulation of synapse maturation (GO:0090128)2.99905225
109sodium ion export (GO:0071436)2.99257880
110positive regulation of potassium ion transmembrane transport (GO:1901381)2.98428661
111righting reflex (GO:0060013)2.98256547
112* neuromuscular process (GO:0050905)2.98225432
113cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.98199430
114long term synaptic depression (GO:0060292)2.98083738
115auditory behavior (GO:0031223)2.97644951
116response to auditory stimulus (GO:0010996)2.97259288
117regulation of dendritic spine morphogenesis (GO:0061001)2.96185369
118positive regulation of dendritic spine development (GO:0060999)2.92594724
119positive regulation of dendritic spine morphogenesis (GO:0061003)2.89594393
120detection of mechanical stimulus involved in sensory perception (GO:0050974)2.89056646
121acidic amino acid transport (GO:0015800)2.89041290
122regulation of dendritic spine development (GO:0060998)2.88767194
123detection of calcium ion (GO:0005513)2.84533965
124central nervous system projection neuron axonogenesis (GO:0021952)2.83176292
125positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.77405114
126cell communication by electrical coupling (GO:0010644)2.72994646

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.81312441
2* GBX2_23144817_ChIP-Seq_PC3_Human4.24297269
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.25675555
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.22900144
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.12627838
6REST_21632747_ChIP-Seq_MESCs_Mouse2.88827001
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67319229
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67319229
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65604043
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.61860031
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.52868443
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47247221
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46489576
14TAF15_26573619_Chip-Seq_HEK293_Human2.46026674
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45621176
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.44251948
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.33857319
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.33848380
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.31805906
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.19674392
21DROSHA_22980978_ChIP-Seq_HELA_Human2.15989508
22CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.15933375
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.13759612
24CTBP2_25329375_ChIP-Seq_LNCAP_Human2.12761968
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.11836396
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11432458
27RNF2_27304074_Chip-Seq_ESCs_Mouse2.08225505
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.01675256
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.01360550
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.96617127
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.93091561
32CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.87229683
33SMAD4_21799915_ChIP-Seq_A2780_Human1.85362121
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.81098160
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78069820
36AR_21572438_ChIP-Seq_LNCaP_Human1.72771752
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.70753882
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64030394
39P300_19829295_ChIP-Seq_ESCs_Human1.63717396
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.61178675
41HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.59632903
42BMI1_23680149_ChIP-Seq_NPCS_Mouse1.58201047
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57082950
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44936527
45IGF1R_20145208_ChIP-Seq_DFB_Human1.44865109
46AR_25329375_ChIP-Seq_VCAP_Human1.44193290
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.42352161
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.42057053
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41645778
50ZNF274_21170338_ChIP-Seq_K562_Hela1.40309939
51SALL1_21062744_ChIP-ChIP_HESCs_Human1.39715534
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.38963118
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.37141600
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36152345
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.33555583
56BCAT_22108803_ChIP-Seq_LS180_Human1.33388471
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32401951
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.31108931
59* STAT3_23295773_ChIP-Seq_U87_Human1.30314653
60ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.29893022
61RNF2_27304074_Chip-Seq_NSC_Mouse1.29040861
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27890586
63TP53_16413492_ChIP-PET_HCT116_Human1.26678444
64RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25654198
65FUS_26573619_Chip-Seq_HEK293_Human1.25227443
66SOX2_21211035_ChIP-Seq_LN229_Gbm1.24648175
67EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.23703526
68EWS_26573619_Chip-Seq_HEK293_Human1.23474733
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21123382
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20403525
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17778615
72TCF4_23295773_ChIP-Seq_U87_Human1.16518361
73LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15006505
74VDR_22108803_ChIP-Seq_LS180_Human1.14641628
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13824460
76KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.13455676
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.12071237
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11227291
79RING1B_27294783_Chip-Seq_ESCs_Mouse1.10858681
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09834726
81* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09067916
82TCF4_22108803_ChIP-Seq_LS180_Human1.08670450
83RUNX2_22187159_ChIP-Seq_PCA_Human1.08548691
84AR_19668381_ChIP-Seq_PC3_Human1.08445930
85STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.06918872
86ER_23166858_ChIP-Seq_MCF-7_Human1.06463934
87* NANOG_18555785_Chip-Seq_ESCs_Mouse1.04975003
88SOX9_26525672_Chip-Seq_HEART_Mouse1.04580301
89TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.04105477
90P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03430821
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03411167
92CBP_20019798_ChIP-Seq_JUKART_Human1.03411167
93AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03122750
94ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02447547
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01699098
96FLI1_27457419_Chip-Seq_LIVER_Mouse1.00727865
97* PRDM14_20953172_ChIP-Seq_ESCs_Human1.00529200
98RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.00234197
99JUN_21703547_ChIP-Seq_K562_Human0.99440842
100ARNT_22903824_ChIP-Seq_MCF-7_Human0.97994062
101YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94975076
102DNAJC2_21179169_ChIP-ChIP_NT2_Human0.94007596
103E2F1_18555785_Chip-Seq_ESCs_Mouse0.92141453
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91697672
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91697672
106MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91463571
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.91403382
108PCGF2_27294783_Chip-Seq_ESCs_Mouse0.90465731
109TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89877533
110NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89702719
111AHR_22903824_ChIP-Seq_MCF-7_Human0.89351382
112* P53_22387025_ChIP-Seq_ESCs_Mouse0.88812895
113SMAD3_21741376_ChIP-Seq_ESCs_Human0.87967635
114KDM2B_26808549_Chip-Seq_REH_Human0.86983065
115* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.85771746
116TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84117960
117CMYC_18555785_Chip-Seq_ESCs_Mouse0.83892416
118RING1B_27294783_Chip-Seq_NPCs_Mouse0.83889061

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.68558059
2MP0003880_abnormal_central_pattern5.53913261
3* MP0003635_abnormal_synaptic_transmissio4.12240722
4MP0009046_muscle_twitch4.08512618
5* MP0009745_abnormal_behavioral_response3.54080237
6* MP0002064_seizures3.40576617
7MP0004270_analgesia3.36482967
8MP0001968_abnormal_touch/_nociception3.27277566
9MP0002063_abnormal_learning/memory/cond3.13336445
10* MP0002272_abnormal_nervous_system2.94386350
11MP0002572_abnormal_emotion/affect_behav2.84904935
12MP0003136_yellow_coat_color2.76617410
13MP0005423_abnormal_somatic_nervous2.73155732
14MP0001486_abnormal_startle_reflex2.69452532
15MP0002734_abnormal_mechanical_nocicepti2.65982769
16MP0002736_abnormal_nociception_after2.62124129
17MP0001501_abnormal_sleep_pattern2.61940572
18MP0000569_abnormal_digit_pigmentation2.57646213
19MP0002735_abnormal_chemical_nociception2.55162036
20MP0002822_catalepsy2.42677135
21* MP0002067_abnormal_sensory_capabilities2.33633137
22MP0001440_abnormal_grooming_behavior2.16409692
23MP0008569_lethality_at_weaning2.11484069
24MP0002733_abnormal_thermal_nociception2.06600158
25MP0001970_abnormal_pain_threshold2.05023541
26MP0006276_abnormal_autonomic_nervous2.00560983
27MP0002184_abnormal_innervation1.90527680
28MP0004142_abnormal_muscle_tone1.88624695
29MP0003879_abnormal_hair_cell1.85160466
30MP0001188_hyperpigmentation1.77225889
31MP0002557_abnormal_social/conspecific_i1.73864919
32MP0005386_behavior/neurological_phenoty1.72658093
33MP0004924_abnormal_behavior1.72658093
34MP0003787_abnormal_imprinting1.71685327
35MP0005646_abnormal_pituitary_gland1.70285362
36MP0001984_abnormal_olfaction1.64076958
37MP0004811_abnormal_neuron_physiology1.53635864
38MP0003329_amyloid_beta_deposits1.50816056
39MP0000778_abnormal_nervous_system1.45406551
40* MP0002066_abnormal_motor_capabilities/c1.44716072
41MP0001529_abnormal_vocalization1.44610962
42MP0000955_abnormal_spinal_cord1.43975631
43MP0003122_maternal_imprinting1.43098270
44MP0002909_abnormal_adrenal_gland1.37491867
45MP0002882_abnormal_neuron_morphology1.35543033
46MP0001986_abnormal_taste_sensitivity1.28371444
47MP0005645_abnormal_hypothalamus_physiol1.24050167
48MP0003633_abnormal_nervous_system1.22903359
49MP0001905_abnormal_dopamine_level1.21938059
50MP0009780_abnormal_chondrocyte_physiolo1.21223843
51MP0004145_abnormal_muscle_electrophysio1.20774249
52MP0001502_abnormal_circadian_rhythm1.18264052
53MP0004858_abnormal_nervous_system1.16128174
54MP0003646_muscle_fatigue1.16027424
55MP0002876_abnormal_thyroid_physiology1.15018001
56MP0005174_abnormal_tail_pigmentation1.09804125
57MP0002229_neurodegeneration1.08554112
58MP0004742_abnormal_vestibular_system1.07751917
59MP0003631_nervous_system_phenotype1.04673418
60MP0004885_abnormal_endolymph1.04400934
61MP0005187_abnormal_penis_morphology1.03969151
62MP0003690_abnormal_glial_cell1.03865797
63MP0008872_abnormal_physiological_respon1.02664875
64MP0005253_abnormal_eye_physiology1.02337713
65MP0000751_myopathy1.02234991
66MP0001963_abnormal_hearing_physiology1.00234347
67MP0002653_abnormal_ependyma_morphology0.97408583
68MP0005551_abnormal_eye_electrophysiolog0.96663477
69* MP0002152_abnormal_brain_morphology0.96466661
70MP0002638_abnormal_pupillary_reflex0.95292097
71MP0002102_abnormal_ear_morphology0.93481345
72MP0003123_paternal_imprinting0.90856608
73MP0010386_abnormal_urinary_bladder0.90557370
74MP0006072_abnormal_retinal_apoptosis0.90320307
75MP0008874_decreased_physiological_sensi0.85999623
76MP0001485_abnormal_pinna_reflex0.84038481
77MP0002752_abnormal_somatic_nervous0.82837289
78MP0004215_abnormal_myocardial_fiber0.80478427
79MP0002069_abnormal_eating/drinking_beha0.80422216
80MP0004484_altered_response_of0.79803064
81MP0006292_abnormal_olfactory_placode0.79531583
82MP0000013_abnormal_adipose_tissue0.79105267
83MP0008877_abnormal_DNA_methylation0.78549121
84MP0002837_dystrophic_cardiac_calcinosis0.78106212
85MP0005409_darkened_coat_color0.77628289
86MP0004147_increased_porphyrin_level0.75676272
87MP0000566_synostosis0.73440868
88MP0005394_taste/olfaction_phenotype0.72533859
89MP0005499_abnormal_olfactory_system0.72533859
90MP0003632_abnormal_nervous_system0.72252083
91MP0005167_abnormal_blood-brain_barrier0.71899955
92MP0001177_atelectasis0.71620934
93MP0005535_abnormal_body_temperature0.70869172
94MP0000631_abnormal_neuroendocrine_gland0.68425514
95MP0004085_abnormal_heartbeat0.68112442
96MP0008260_abnormal_autophagy0.66135722
97MP0003195_calcinosis0.65564267
98MP0004133_heterotaxia0.65538906
99MP0000920_abnormal_myelination0.65327422
100MP0001299_abnormal_eye_distance/0.65162046
101MP0003121_genomic_imprinting0.64356654
102MP0003861_abnormal_nervous_system0.63319915
103MP0003634_abnormal_glial_cell0.63232346
104MP0002938_white_spotting0.62897763
105MP0001664_abnormal_digestion0.59424189
106MP0000026_abnormal_inner_ear0.58215077
107MP0000015_abnormal_ear_pigmentation0.58047267
108MP0002751_abnormal_autonomic_nervous0.57694745
109MP0002928_abnormal_bile_duct0.56665301
110MP0005171_absent_coat_pigmentation0.56525557
111MP0004043_abnormal_pH_regulation0.56295591
112MP0005195_abnormal_posterior_eye0.55854866
113MP0006035_abnormal_mitochondrial_morpho0.54951723
114MP0003137_abnormal_impulse_conducting0.54583237
115* MP0010769_abnormal_survival0.53298527
116MP0000604_amyloidosis0.52513824
117* MP0010770_preweaning_lethality0.51958420
118* MP0002082_postnatal_lethality0.51958420
119MP0000639_abnormal_adrenal_gland0.51466610
120* MP0010768_mortality/aging0.51102025
121MP0003698_abnormal_male_reproductive0.50831402

Predicted human phenotypes

RankGene SetZ-score
1* Focal motor seizures (HP:0011153)9.12596589
2Myokymia (HP:0002411)6.45737294
3* Focal seizures (HP:0007359)5.93013074
4Epileptic encephalopathy (HP:0200134)5.83189440
5* Febrile seizures (HP:0002373)5.52672472
6* Atonic seizures (HP:0010819)5.44771453
7Progressive cerebellar ataxia (HP:0002073)4.97968607
8Visual hallucinations (HP:0002367)4.93361620
9Gaze-evoked nystagmus (HP:0000640)4.42471101
10* Absence seizures (HP:0002121)4.38771646
11Action tremor (HP:0002345)4.21035563
12Hyperventilation (HP:0002883)4.16999367
13* Dialeptic seizures (HP:0011146)4.14072709
14Broad-based gait (HP:0002136)3.98354191
15* Generalized tonic-clonic seizures (HP:0002069)3.78100279
16Dysdiadochokinesis (HP:0002075)3.56188736
17Progressive inability to walk (HP:0002505)3.46121736
18Scanning speech (HP:0002168)3.41350219
19Truncal ataxia (HP:0002078)3.38071384
20Abnormal eating behavior (HP:0100738)3.35554055
21Poor eye contact (HP:0000817)3.18313425
22Dysmetria (HP:0001310)3.12950916
23Impaired social interactions (HP:0000735)3.01099249
24Abnormal social behavior (HP:0012433)3.01099249
25Depression (HP:0000716)2.98237745
26Supranuclear gaze palsy (HP:0000605)2.94605856
27Impaired vibration sensation in the lower limbs (HP:0002166)2.93207965
28Impaired smooth pursuit (HP:0007772)2.91472518
29Amblyopia (HP:0000646)2.86254123
30Anxiety (HP:0000739)2.83155225
31Genetic anticipation (HP:0003743)2.82963939
32Diplopia (HP:0000651)2.82930051
33Abnormality of binocular vision (HP:0011514)2.82930051
34Inability to walk (HP:0002540)2.81342809
35Urinary bladder sphincter dysfunction (HP:0002839)2.77009337
36Ankle clonus (HP:0011448)2.75528301
37True hermaphroditism (HP:0010459)2.74320677
38Polyphagia (HP:0002591)2.69263611
39Abnormal hair whorl (HP:0010721)2.64860036
40Fetal akinesia sequence (HP:0001989)2.62087646
41Dysmetric saccades (HP:0000641)2.62032626
42Absent speech (HP:0001344)2.59059116
43Pheochromocytoma (HP:0002666)2.57483784
44Epileptiform EEG discharges (HP:0011182)2.53779108
45Abnormality of ocular smooth pursuit (HP:0000617)2.52518093
46Neuroendocrine neoplasm (HP:0100634)2.43704218
47Drooling (HP:0002307)2.43226060
48Excessive salivation (HP:0003781)2.43226060
49Postural instability (HP:0002172)2.38176433
50Bradykinesia (HP:0002067)2.37619128
51Failure to thrive in infancy (HP:0001531)2.36228200
52Mutism (HP:0002300)2.35170831
53Postural tremor (HP:0002174)2.34204043
54EEG with generalized epileptiform discharges (HP:0011198)2.29749471
55Spastic gait (HP:0002064)2.28738848
56* Hemiplegia (HP:0002301)2.23440528
57Stereotypic behavior (HP:0000733)2.23404515
58* Status epilepticus (HP:0002133)2.23339484
59Gait imbalance (HP:0002141)2.20945932
60Urinary urgency (HP:0000012)2.18535549
61Protruding tongue (HP:0010808)2.18280350
62Impaired vibratory sensation (HP:0002495)2.16004088
63Nephronophthisis (HP:0000090)2.15362001
64Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.12393835
65Degeneration of the lateral corticospinal tracts (HP:0002314)2.12393835
66Esotropia (HP:0000565)2.12046465
67Annular pancreas (HP:0001734)2.11617964
68Pancreatic fibrosis (HP:0100732)2.11613612
69Hypsarrhythmia (HP:0002521)2.11501200
70Ventricular fibrillation (HP:0001663)2.09199334
71Poor suck (HP:0002033)2.08598361
72Intention tremor (HP:0002080)2.06794192
73Delusions (HP:0000746)2.03211060
74Horizontal nystagmus (HP:0000666)2.03051829
75Blue irides (HP:0000635)2.02270747
76Pancreatic cysts (HP:0001737)2.01492214
77Gait ataxia (HP:0002066)2.00496407
78Limb dystonia (HP:0002451)1.99728447
79Specific learning disability (HP:0001328)1.99613864
80Focal dystonia (HP:0004373)1.98250991
81Congenital primary aphakia (HP:0007707)1.98225103
82Torticollis (HP:0000473)1.96150821
83Psychosis (HP:0000709)1.95323852
84Abnormality of saccadic eye movements (HP:0000570)1.94571197
85Large for gestational age (HP:0001520)1.93782070
86Medial flaring of the eyebrow (HP:0010747)1.93774697
87Abnormality of midbrain morphology (HP:0002418)1.93129072
88Molar tooth sign on MRI (HP:0002419)1.93129072
89Hepatoblastoma (HP:0002884)1.91719403
90Morphological abnormality of the pyramidal tract (HP:0002062)1.90892970
91Optic nerve hypoplasia (HP:0000609)1.90384258
92Acute necrotizing encephalopathy (HP:0006965)1.90280359
93Incomplete penetrance (HP:0003829)1.89900886
94Agitation (HP:0000713)1.89189356
95Nephrogenic diabetes insipidus (HP:0009806)1.88068808
96Megalencephaly (HP:0001355)1.87888275
97Lower limb muscle weakness (HP:0007340)1.86188123
98Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.85023034
99Abnormality of the labia minora (HP:0012880)1.84684203
100Abnormality of the corticospinal tract (HP:0002492)1.84215396
101Dynein arm defect of respiratory motile cilia (HP:0012255)1.83866166
102Absent/shortened dynein arms (HP:0200106)1.83866166
103Termporal pattern (HP:0011008)1.83650202
104Insidious onset (HP:0003587)1.83650202
105Iris hypopigmentation (HP:0007730)1.83604947
106Abnormal mitochondria in muscle tissue (HP:0008316)1.83598006
107Limb ataxia (HP:0002070)1.83547459
108Spastic tetraplegia (HP:0002510)1.82468558
109Glioma (HP:0009733)1.79637087
110Sleep apnea (HP:0010535)1.79616549
111Abnormality of the lower motor neuron (HP:0002366)1.79222211
112Abnormal drinking behavior (HP:0030082)1.78516238
113Polydipsia (HP:0001959)1.78516238
114Progressive macrocephaly (HP:0004481)1.78334266
115Unsteady gait (HP:0002317)1.77917603
116* Hemiparesis (HP:0001269)1.77730580
117Ulnar claw (HP:0001178)1.77111446
118Abnormality of the renal medulla (HP:0100957)1.74961465
119Split foot (HP:0001839)1.74909543
120Narrow nasal bridge (HP:0000446)1.71816405
121Bronchomalacia (HP:0002780)1.71807742
122Hypoventilation (HP:0002791)1.71464488
123Clonus (HP:0002169)1.70725672
124Neuronal loss in central nervous system (HP:0002529)1.70578737
125* Generalized myoclonic seizures (HP:0002123)1.70454120
126Neurofibrillary tangles (HP:0002185)1.69258196
127Heterochromia iridis (HP:0001100)1.69238925
128Type II lissencephaly (HP:0007260)1.68799549
129Decreased central vision (HP:0007663)1.67198515
130Genital tract atresia (HP:0001827)1.66895236
131Epidermoid cyst (HP:0200040)1.66522558
132Lissencephaly (HP:0001339)1.66318700
133Aplasia/Hypoplasia of the tibia (HP:0005772)1.64917363
134Hypoplasia of the corpus callosum (HP:0002079)1.60977218
135Vaginal atresia (HP:0000148)1.58994669

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.78332397
2CASK4.05628457
3MAP2K73.67014096
4EPHA43.63518495
5MAP3K43.41341034
6MAP3K93.18971468
7MAP3K123.12034525
8TNIK2.45620882
9FRK2.41192702
10CDK192.39985788
11MINK12.38575469
12DAPK22.33926809
13MAP2K42.30191151
14RIPK42.09026583
15NTRK21.90353519
16CAMKK21.79181003
17MAPK151.79161684
18MARK11.78993957
19WNK41.68501726
20DAPK11.65105030
21PAK61.60694221
22ARAF1.59925368
23CAMKK11.56006670
24STK391.55471482
25PLK21.54001469
26PNCK1.46149263
27MAPK131.44339244
28CCNB11.40076108
29STK381.37765078
30NTRK11.32760200
31GRK51.32730827
32SGK21.32028372
33CDK51.31976710
34PRKCG1.31037708
35PRPF4B1.29749413
36KSR21.28843857
37FES1.25315405
38AKT31.20732624
39SGK4941.17902367
40SGK2231.17902367
41OXSR11.15978840
42MUSK1.10809994
43PAK31.09919691
44BMPR1B1.08200036
45KSR11.03669998
46CAMK2A1.02154660
47TNK20.97563237
48BMPR20.91438766
49CAMK10.90852808
50FGFR20.89103811
51CAMK2B0.88819923
52NME10.88287373
53BCR0.87340934
54WNK10.86594283
55SIK20.85002966
56PKN10.84392411
57SGK30.83658437
58MAP3K130.82807281
59UHMK10.81669123
60DYRK1A0.81236050
61WEE10.80526768
62CSNK1A1L0.79991935
63BRAF0.78620823
64PINK10.78176951
65STK110.77595422
66CSNK1G30.77268584
67PRKD30.73804344
68CDK180.72007569
69CDK150.69283281
70PHKG10.68707927
71PHKG20.68707927
72MAP4K20.68019184
73CAMK1G0.67565363
74CAMK40.67381223
75CDK140.67268235
76RAF10.65015630
77CSNK1G20.63307201
78MAPKAPK50.62354422
79SGK10.62332477
80PRKCE0.61841870
81GRK70.61696999
82CDK11A0.61683738
83TAOK10.60848220
84CAMK2G0.60633717
85LATS20.60581583
86PIK3CA0.59796137
87MKNK20.59423396
88MAP3K10.58373794
89CAMK1D0.57684221
90PRKCH0.57128532
91ACVR1B0.57108725
92EPHA30.56532896
93DYRK20.56258126
94PDK40.54886198
95PDK30.54886198
96GRK10.54257366
97ERBB20.52301830
98CAMK2D0.50583337
99INSRR0.50517135
100MAP3K60.49441411
101PRKG10.49269255
102PDK10.49235771
103PDPK10.47350907
104TYRO30.46484394
105CSNK1D0.46356067
106TSSK60.44605247
107LMTK20.43892285
108NEK60.43855397
109MAP3K20.41189189
110BRSK10.39777548
111RPS6KA30.38739373
112CDK30.38030441
113WNK30.37687056
114PTK2B0.36202886
115PRKACA0.35136713
116RET0.34727305
117MAPK100.34239507
118ROCK10.33827761
119VRK10.33649294
120ADRBK20.33477564
121FER0.33010603
122CSNK1A10.32159661
123ROCK20.31625709
124CSNK1G10.29616852
125MAPK120.29276868
126PRKCZ0.29223567
127PRKCA0.28756218
128ADRBK10.28617071

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.72428250
2Synaptic vesicle cycle_Homo sapiens_hsa047213.88111345
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.07301001
4GABAergic synapse_Homo sapiens_hsa047273.00258290
5Long-term potentiation_Homo sapiens_hsa047202.73151206
6Morphine addiction_Homo sapiens_hsa050322.72997322
7Circadian entrainment_Homo sapiens_hsa047132.67379239
8Glutamatergic synapse_Homo sapiens_hsa047242.67315182
9Olfactory transduction_Homo sapiens_hsa047402.64479781
10Amphetamine addiction_Homo sapiens_hsa050312.44830282
11Collecting duct acid secretion_Homo sapiens_hsa049662.39753191
12Taste transduction_Homo sapiens_hsa047422.28504819
13Salivary secretion_Homo sapiens_hsa049702.21811635
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.09613616
15* Dopaminergic synapse_Homo sapiens_hsa047282.05800137
16Insulin secretion_Homo sapiens_hsa049111.93610707
17Long-term depression_Homo sapiens_hsa047301.85428756
18Serotonergic synapse_Homo sapiens_hsa047261.77026831
19Gastric acid secretion_Homo sapiens_hsa049711.71222528
20Cholinergic synapse_Homo sapiens_hsa047251.70071477
21Calcium signaling pathway_Homo sapiens_hsa040201.69501856
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.64636011
23Nitrogen metabolism_Homo sapiens_hsa009101.58410800
24Renin secretion_Homo sapiens_hsa049241.54602169
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.49860126
26Oxytocin signaling pathway_Homo sapiens_hsa049211.49493846
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.46341353
28Cocaine addiction_Homo sapiens_hsa050301.41471517
29Vibrio cholerae infection_Homo sapiens_hsa051101.39355607
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.38199903
31Butanoate metabolism_Homo sapiens_hsa006501.37546590
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.33498436
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31242281
34GnRH signaling pathway_Homo sapiens_hsa049121.29757622
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25358454
36cAMP signaling pathway_Homo sapiens_hsa040241.22595958
37Oxidative phosphorylation_Homo sapiens_hsa001901.19486004
38Fatty acid biosynthesis_Homo sapiens_hsa000611.18658859
39Gap junction_Homo sapiens_hsa045401.18207541
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.16377434
41Cardiac muscle contraction_Homo sapiens_hsa042601.12177974
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11754486
43Phototransduction_Homo sapiens_hsa047441.09265978
44Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.07716125
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06532463
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.94562742
47Bile secretion_Homo sapiens_hsa049760.90933601
48Estrogen signaling pathway_Homo sapiens_hsa049150.90681447
49Alzheimers disease_Homo sapiens_hsa050100.90064044
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.88371428
51Type I diabetes mellitus_Homo sapiens_hsa049400.87585563
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.87423587
53Melanogenesis_Homo sapiens_hsa049160.86082220
54Type II diabetes mellitus_Homo sapiens_hsa049300.85562503
55ErbB signaling pathway_Homo sapiens_hsa040120.84821032
56Oocyte meiosis_Homo sapiens_hsa041140.84587355
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.83671177
58Primary bile acid biosynthesis_Homo sapiens_hsa001200.82848481
59Pancreatic secretion_Homo sapiens_hsa049720.82331717
60Parkinsons disease_Homo sapiens_hsa050120.77775023
61Axon guidance_Homo sapiens_hsa043600.75769536
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74349783
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73842948
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.70305683
65Glioma_Homo sapiens_hsa052140.69263979
66MAPK signaling pathway_Homo sapiens_hsa040100.68568095
67Propanoate metabolism_Homo sapiens_hsa006400.68074019
68Steroid biosynthesis_Homo sapiens_hsa001000.65968598
69ABC transporters_Homo sapiens_hsa020100.64277347
70Ether lipid metabolism_Homo sapiens_hsa005650.63058322
71beta-Alanine metabolism_Homo sapiens_hsa004100.62199371
72Rheumatoid arthritis_Homo sapiens_hsa053230.62021807
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60971432
74Thyroid hormone synthesis_Homo sapiens_hsa049180.59810873
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59275429
76Inositol phosphate metabolism_Homo sapiens_hsa005620.59033775
77Circadian rhythm_Homo sapiens_hsa047100.58916042
78Phospholipase D signaling pathway_Homo sapiens_hsa040720.58853440
79Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58365271
80Huntingtons disease_Homo sapiens_hsa050160.57438959
81Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56844234
82Histidine metabolism_Homo sapiens_hsa003400.56300500
83Mineral absorption_Homo sapiens_hsa049780.53961897
84Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.53926062
85Maturity onset diabetes of the young_Homo sapiens_hsa049500.50431062
86Choline metabolism in cancer_Homo sapiens_hsa052310.49529365
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48999382
88Dorso-ventral axis formation_Homo sapiens_hsa043200.48689195
89Fatty acid metabolism_Homo sapiens_hsa012120.48528713
90Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.47903922
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47835084
92Ras signaling pathway_Homo sapiens_hsa040140.47441710
93Dilated cardiomyopathy_Homo sapiens_hsa054140.46957651
94Glucagon signaling pathway_Homo sapiens_hsa049220.45331540
95PPAR signaling pathway_Homo sapiens_hsa033200.44352256
96Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43444875
97Regulation of autophagy_Homo sapiens_hsa041400.41312585
98Hippo signaling pathway_Homo sapiens_hsa043900.40191476
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.38344860
100Glycerolipid metabolism_Homo sapiens_hsa005610.38051042
101Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37932767
102alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.36849880
103Vitamin B6 metabolism_Homo sapiens_hsa007500.35229510
104Alcoholism_Homo sapiens_hsa050340.34966373
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.34485450
106Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.34447657
107Rap1 signaling pathway_Homo sapiens_hsa040150.34143717
108Wnt signaling pathway_Homo sapiens_hsa043100.33940046
109Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32696893
110Linoleic acid metabolism_Homo sapiens_hsa005910.31778855
111Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.30818747
112Ovarian steroidogenesis_Homo sapiens_hsa049130.29973179
113Arginine and proline metabolism_Homo sapiens_hsa003300.29939683
114Peroxisome_Homo sapiens_hsa041460.29512331
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.29199574
116African trypanosomiasis_Homo sapiens_hsa051430.27827059
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27713422
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27125442
119Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.26971627
120Endocytosis_Homo sapiens_hsa041440.25267366
121Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24899674
122VEGF signaling pathway_Homo sapiens_hsa043700.24459479
123Phagosome_Homo sapiens_hsa041450.23846490
124Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23717639
125Insulin signaling pathway_Homo sapiens_hsa049100.22974788
126Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.22213851
127Chemokine signaling pathway_Homo sapiens_hsa040620.17026476

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