SCN3A

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 transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. 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
1neuron cell-cell adhesion (GO:0007158)6.12322961
2regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.35082140
3vocalization behavior (GO:0071625)5.27217490
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.16366128
5protein localization to synapse (GO:0035418)4.85242493
6neuron recognition (GO:0008038)4.84405482
7regulation of glutamate receptor signaling pathway (GO:1900449)4.82052555
8ionotropic glutamate receptor signaling pathway (GO:0035235)4.74342147
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.64289056
10axonal fasciculation (GO:0007413)4.48030975
11presynaptic membrane assembly (GO:0097105)4.44423807
12dendritic spine morphogenesis (GO:0060997)4.42802061
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.42259106
14glutamate receptor signaling pathway (GO:0007215)4.40687810
15regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.32593618
16postsynaptic membrane organization (GO:0001941)4.25627002
17synaptic vesicle exocytosis (GO:0016079)4.22422051
18synaptic transmission, glutamatergic (GO:0035249)4.11440704
19neurotransmitter-gated ion channel clustering (GO:0072578)4.08708179
20regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.06477705
21locomotory exploration behavior (GO:0035641)4.01478352
22establishment of mitochondrion localization (GO:0051654)3.95660742
23neuron-neuron synaptic transmission (GO:0007270)3.95470414
24presynaptic membrane organization (GO:0097090)3.95332545
25startle response (GO:0001964)3.85950500
26exploration behavior (GO:0035640)3.85500567
27layer formation in cerebral cortex (GO:0021819)3.83423495
28positive regulation of synapse assembly (GO:0051965)3.82761573
29central nervous system projection neuron axonogenesis (GO:0021952)3.81702427
30regulation of synaptic vesicle exocytosis (GO:2000300)3.76942062
31regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.76342450
32transmission of nerve impulse (GO:0019226)3.75175371
33glutamate secretion (GO:0014047)3.71790593
34behavioral response to nicotine (GO:0035095)3.68545215
35neurotransmitter secretion (GO:0007269)3.63140449
36positive regulation of synaptic transmission, GABAergic (GO:0032230)3.63024788
37pyrimidine nucleobase catabolic process (GO:0006208)3.61450939
38regulation of long-term neuronal synaptic plasticity (GO:0048169)3.60737577
39dendrite morphogenesis (GO:0048813)3.58159455
40G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.55275041
41regulation of synapse structural plasticity (GO:0051823)3.51894309
42regulation of neuronal synaptic plasticity (GO:0048168)3.50263743
43cell migration in hindbrain (GO:0021535)3.47726789
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.46953800
45synapse assembly (GO:0007416)3.46685492
46regulation of synaptic transmission, glutamatergic (GO:0051966)3.46277738
47auditory behavior (GO:0031223)3.43798238
48regulation of respiratory system process (GO:0044065)3.43423618
49regulation of synapse assembly (GO:0051963)3.43395018
50synaptic vesicle maturation (GO:0016188)3.43352778
51membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.39901459
52regulation of synaptic vesicle transport (GO:1902803)3.38944362
53regulation of postsynaptic membrane potential (GO:0060078)3.38097974
54negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.32038427
55neurofilament cytoskeleton organization (GO:0060052)3.28660561
56mitochondrion transport along microtubule (GO:0047497)3.28007337
57establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.28007337
58positive regulation of synapse maturation (GO:0090129)3.27825656
59long-term memory (GO:0007616)3.26562021
60mating behavior (GO:0007617)3.25914756
61cerebellar Purkinje cell differentiation (GO:0021702)3.25868241
62dendrite development (GO:0016358)3.24796418
63neuronal action potential propagation (GO:0019227)3.24184648
64gamma-aminobutyric acid signaling pathway (GO:0007214)3.23013879
65response to histamine (GO:0034776)3.19280457
66prepulse inhibition (GO:0060134)3.18476456
67regulation of respiratory gaseous exchange (GO:0043576)3.16279863
68retinal ganglion cell axon guidance (GO:0031290)3.15539808
69positive regulation of membrane potential (GO:0045838)3.14578362
70cerebellar granule cell differentiation (GO:0021707)3.12580045
71serotonin metabolic process (GO:0042428)3.12323596
72regulation of dendritic spine morphogenesis (GO:0061001)3.12036982
73synaptic vesicle docking involved in exocytosis (GO:0016081)3.11987106
74mechanosensory behavior (GO:0007638)3.11602086
75* membrane depolarization during action potential (GO:0086010)3.11461403
76gamma-aminobutyric acid transport (GO:0015812)3.10467367
77negative regulation of synaptic transmission, GABAergic (GO:0032229)3.09827141
78neurotransmitter transport (GO:0006836)3.09690844
79central nervous system neuron axonogenesis (GO:0021955)3.09571540
80positive regulation of dendritic spine morphogenesis (GO:0061003)3.09552349
81behavioral fear response (GO:0001662)3.07386103
82behavioral defense response (GO:0002209)3.07386103
83regulation of synapse organization (GO:0050807)3.07035236
84righting reflex (GO:0060013)3.05907298
85proline transport (GO:0015824)3.04814419
86positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.04542187
87regulation of glutamate secretion (GO:0014048)3.04131747
88calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.03359764
89regulation of vesicle fusion (GO:0031338)3.02370426
90nucleobase catabolic process (GO:0046113)3.02064746
91negative regulation of microtubule polymerization (GO:0031115)3.01892847
92membrane hyperpolarization (GO:0060081)3.00634211
93response to auditory stimulus (GO:0010996)2.99301713
94regulation of synaptic transmission, GABAergic (GO:0032228)2.99113019
95synapse organization (GO:0050808)2.98984626
96* membrane depolarization (GO:0051899)2.98427165
97retina layer formation (GO:0010842)2.98301103
98epithelial cell differentiation involved in kidney development (GO:0035850)2.98284117
99regulation of synapse maturation (GO:0090128)2.96917417
100striatum development (GO:0021756)2.96736274
101positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.96636393
102adult walking behavior (GO:0007628)2.96511311
103fear response (GO:0042596)2.95940174
104synaptic vesicle endocytosis (GO:0048488)2.94187053
105learning (GO:0007612)2.93738910
106positive regulation of dendritic spine development (GO:0060999)2.93554612
107innervation (GO:0060384)2.93037440
108social behavior (GO:0035176)2.92273564
109intraspecies interaction between organisms (GO:0051703)2.92273564
110detection of calcium ion (GO:0005513)2.91701729
111* neuronal action potential (GO:0019228)2.91696292
112negative regulation of dendrite development (GO:2000171)2.91006918
113regulation of neurotransmitter secretion (GO:0046928)2.91000009
114negative regulation of axon extension (GO:0030517)2.86586633
115G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.86253790
116hippocampus development (GO:0021766)2.85181198
117axon extension (GO:0048675)2.84880263
118cell differentiation in hindbrain (GO:0021533)2.84497288
119cerebral cortex radially oriented cell migration (GO:0021799)2.84372422
120axonogenesis (GO:0007409)2.82671937
121neuromuscular synaptic transmission (GO:0007274)2.81953722
122adult behavior (GO:0030534)2.81634823
123neuron maturation (GO:0042551)2.81402791
124regulation of axon guidance (GO:1902667)2.81240539
125heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)2.77124827
126negative regulation of cytosolic calcium ion concentration (GO:0051481)2.76953263
127limb bud formation (GO:0060174)2.75842073
128dopamine biosynthetic process (GO:0042416)2.74058402
129spinal cord development (GO:0021510)2.70730969
130neuron migration (GO:0001764)2.68673942
131sympathetic nervous system development (GO:0048485)2.67651524
132membrane assembly (GO:0071709)2.66998493

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.56066839
2GBX2_23144817_ChIP-Seq_PC3_Human4.07745048
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.90865434
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90548350
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.71920323
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.68291005
7JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43357516
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.42695771
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.41450612
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.41327661
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.41327661
12TAF15_26573619_Chip-Seq_HEK293_Human2.40773562
13REST_21632747_ChIP-Seq_MESCs_Mouse2.39271824
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.34972305
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.30659344
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27406431
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.24766013
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.23694620
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.20469861
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.16039461
21SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.15213345
22MTF2_20144788_ChIP-Seq_MESCs_Mouse2.14148215
23CTBP1_25329375_ChIP-Seq_LNCAP_Human2.11315129
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.09048260
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.06097323
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.04126502
27RBPJ_22232070_ChIP-Seq_NCS_Mouse2.03290614
28RNF2_27304074_Chip-Seq_ESCs_Mouse1.99947975
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.96700508
30CBX2_27304074_Chip-Seq_ESCs_Mouse1.96309887
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95891717
32DROSHA_22980978_ChIP-Seq_HELA_Human1.91531312
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.83664650
34ZNF274_21170338_ChIP-Seq_K562_Hela1.82037070
35REST_18959480_ChIP-ChIP_MESCs_Mouse1.81650593
36AR_21572438_ChIP-Seq_LNCaP_Human1.79637472
37IGF1R_20145208_ChIP-Seq_DFB_Human1.79522163
38* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.79379076
39SMAD4_21799915_ChIP-Seq_A2780_Human1.76494025
40P300_19829295_ChIP-Seq_ESCs_Human1.76259677
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76019936
42GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.75804306
43RARB_27405468_Chip-Seq_BRAIN_Mouse1.71689481
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.63293129
45RNF2_27304074_Chip-Seq_NSC_Mouse1.62704776
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59672426
47FUS_26573619_Chip-Seq_HEK293_Human1.58440713
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.55997376
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55192585
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.53340332
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.52035643
52IKZF1_21737484_ChIP-ChIP_HCT116_Human1.51573443
53CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.48490551
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45673151
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40106282
56AR_25329375_ChIP-Seq_VCAP_Human1.34019088
57SOX2_21211035_ChIP-Seq_LN229_Gbm1.33744357
58* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31898101
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31745446
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.31745446
61* STAT3_23295773_ChIP-Seq_U87_Human1.30835246
62AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27273606
63BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.26821649
64RING1B_27294783_Chip-Seq_ESCs_Mouse1.25968025
65ER_23166858_ChIP-Seq_MCF-7_Human1.25440979
66VDR_22108803_ChIP-Seq_LS180_Human1.24794660
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24506788
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23737744
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23231573
70FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.22627085
71CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22539194
72* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.22483372
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22426291
74CBP_20019798_ChIP-Seq_JUKART_Human1.22426291
75TCF4_23295773_ChIP-Seq_U87_Human1.20386550
76RUNX2_22187159_ChIP-Seq_PCA_Human1.20272774
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.19283302
78SMAD_19615063_ChIP-ChIP_OVARY_Human1.18908407
79RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.18370993
80SALL1_21062744_ChIP-ChIP_HESCs_Human1.17240659
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.16683492
82KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.14968685
83CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14096718
84RING1B_27294783_Chip-Seq_NPCs_Mouse1.13787321
85NR3C1_21868756_ChIP-Seq_MCF10A_Human1.13236814
86EWS_26573619_Chip-Seq_HEK293_Human1.11819597
87AHR_22903824_ChIP-Seq_MCF-7_Human1.11671228
88YAP1_20516196_ChIP-Seq_MESCs_Mouse1.10378637
89STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.10195944
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07448924
91ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07436961
92MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06118725
93* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04474706
94SOX9_26525672_Chip-Seq_HEART_Mouse1.04283098
95AR_19668381_ChIP-Seq_PC3_Human1.03819225
96PRDM14_20953172_ChIP-Seq_ESCs_Human1.03262197
97P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02885527
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02315574
99BCAT_22108803_ChIP-Seq_LS180_Human1.02305067
100TP53_18474530_ChIP-ChIP_U2OS_Human1.02099077
101JUN_21703547_ChIP-Seq_K562_Human1.01383612
102CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.00099969
103* E2F1_18555785_Chip-Seq_ESCs_Mouse1.00090109
104ERG_21242973_ChIP-ChIP_JURKAT_Human0.99843413
105EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99550842
106TAL1_26923725_Chip-Seq_HPCs_Mouse0.99229566
107* CMYC_18555785_Chip-Seq_ESCs_Mouse0.97411829
108KDM2B_26808549_Chip-Seq_REH_Human0.95685469
109* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95617973
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95588289
111* P53_22387025_ChIP-Seq_ESCs_Mouse0.95486564
112MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94124856
113TP53_16413492_ChIP-PET_HCT116_Human0.92995752

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.07524989
2MP0004859_abnormal_synaptic_plasticity4.67761632
3MP0003635_abnormal_synaptic_transmissio3.53215692
4MP0009745_abnormal_behavioral_response3.09382814
5MP0004270_analgesia3.07980085
6MP0005423_abnormal_somatic_nervous3.05519227
7MP0002063_abnormal_learning/memory/cond2.98021840
8MP0002822_catalepsy2.92174201
9MP0006276_abnormal_autonomic_nervous2.69242256
10MP0002572_abnormal_emotion/affect_behav2.68603704
11MP0002064_seizures2.67283631
12MP0001968_abnormal_touch/_nociception2.61606825
13MP0000778_abnormal_nervous_system2.49512540
14MP0001486_abnormal_startle_reflex2.44793871
15MP0009046_muscle_twitch2.43990353
16MP0002734_abnormal_mechanical_nocicepti2.43982583
17MP0001529_abnormal_vocalization2.37108251
18MP0002272_abnormal_nervous_system2.30921967
19MP0002184_abnormal_innervation2.24726944
20MP0003787_abnormal_imprinting2.20486493
21MP0001188_hyperpigmentation2.17406014
22MP0005645_abnormal_hypothalamus_physiol2.15561862
23MP0002735_abnormal_chemical_nociception2.14941023
24MP0003122_maternal_imprinting2.11007414
25MP0002067_abnormal_sensory_capabilities2.01114645
26MP0001440_abnormal_grooming_behavior2.00886207
27MP0002557_abnormal_social/conspecific_i2.00548088
28MP0004924_abnormal_behavior1.95808467
29MP0005386_behavior/neurological_phenoty1.95808467
30MP0001501_abnormal_sleep_pattern1.91872785
31MP0002736_abnormal_nociception_after1.89596297
32MP0002733_abnormal_thermal_nociception1.87194615
33MP0001905_abnormal_dopamine_level1.85657653
34MP0001984_abnormal_olfaction1.85518705
35MP0005646_abnormal_pituitary_gland1.81925187
36MP0001970_abnormal_pain_threshold1.77272769
37MP0004811_abnormal_neuron_physiology1.61676096
38MP0000569_abnormal_digit_pigmentation1.60165405
39MP0000631_abnormal_neuroendocrine_gland1.53095407
40MP0000955_abnormal_spinal_cord1.47929564
41MP0002882_abnormal_neuron_morphology1.45233687
42MP0002909_abnormal_adrenal_gland1.44788036
43MP0004742_abnormal_vestibular_system1.44129631
44MP0010386_abnormal_urinary_bladder1.42226274
45MP0001502_abnormal_circadian_rhythm1.40480727
46MP0004133_heterotaxia1.39341502
47MP0003121_genomic_imprinting1.33905869
48MP0008569_lethality_at_weaning1.30429809
49* MP0002066_abnormal_motor_capabilities/c1.29746479
50MP0002102_abnormal_ear_morphology1.23272535
51MP0002638_abnormal_pupillary_reflex1.22788271
52MP0002152_abnormal_brain_morphology1.22356488
53MP0004142_abnormal_muscle_tone1.22080396
54MP0005409_darkened_coat_color1.16699115
55MP0005187_abnormal_penis_morphology1.15183687
56MP0001986_abnormal_taste_sensitivity1.11621731
57MP0008877_abnormal_DNA_methylation1.09881656
58MP0002751_abnormal_autonomic_nervous1.08078190
59MP0003119_abnormal_digestive_system1.07765002
60MP0003879_abnormal_hair_cell1.07724997
61MP0000566_synostosis1.07003894
62MP0002234_abnormal_pharynx_morphology1.06137176
63MP0006292_abnormal_olfactory_placode1.06008123
64MP0004858_abnormal_nervous_system1.03515582
65MP0002876_abnormal_thyroid_physiology1.02334077
66MP0002837_dystrophic_cardiac_calcinosis1.01542733
67MP0001963_abnormal_hearing_physiology1.01466783
68MP0006072_abnormal_retinal_apoptosis1.00938759
69MP0005551_abnormal_eye_electrophysiolog1.00502611
70MP0002752_abnormal_somatic_nervous0.99383980
71MP0009780_abnormal_chondrocyte_physiolo0.98409975
72MP0001299_abnormal_eye_distance/0.98255479
73MP0002069_abnormal_eating/drinking_beha0.97612894
74MP0005394_taste/olfaction_phenotype0.96674907
75MP0005499_abnormal_olfactory_system0.96674907
76MP0005171_absent_coat_pigmentation0.94650054
77MP0004885_abnormal_endolymph0.92337716
78MP0003861_abnormal_nervous_system0.90971831
79MP0000026_abnormal_inner_ear0.89311070
80MP0003938_abnormal_ear_development0.89259205
81MP0003329_amyloid_beta_deposits0.88362703
82MP0004043_abnormal_pH_regulation0.87852816
83MP0003633_abnormal_nervous_system0.85673988
84MP0000751_myopathy0.84347133
85MP0002229_neurodegeneration0.82237120
86MP0008789_abnormal_olfactory_epithelium0.81304828
87MP0003631_nervous_system_phenotype0.80262888
88MP0004085_abnormal_heartbeat0.78957205
89MP0002653_abnormal_ependyma_morphology0.78675503
90MP0005195_abnormal_posterior_eye0.78564902
91MP0003136_yellow_coat_color0.77119319
92MP0000049_abnormal_middle_ear0.74463453
93MP0008995_early_reproductive_senescence0.74368528
94MP0003890_abnormal_embryonic-extraembry0.72263374
95MP0005253_abnormal_eye_physiology0.71623801
96MP0001485_abnormal_pinna_reflex0.71479014
97MP0001177_atelectasis0.71468377
98MP0001943_abnormal_respiration0.70932174
99MP0004145_abnormal_muscle_electrophysio0.70759189
100MP0003283_abnormal_digestive_organ0.68259674
101MP0008872_abnormal_physiological_respon0.68009635
102MP0002081_perinatal_lethality0.67174592
103MP0001664_abnormal_digestion0.66936855
104MP0005535_abnormal_body_temperature0.66152699
105MP0003937_abnormal_limbs/digits/tail_de0.63819793
106MP0003634_abnormal_glial_cell0.63792891
107MP0000534_abnormal_ureter_morphology0.62395910
108MP0003137_abnormal_impulse_conducting0.61970987
109* MP0002082_postnatal_lethality0.61696075
110* MP0010770_preweaning_lethality0.61696075
111MP0000538_abnormal_urinary_bladder0.61150310
112MP0009379_abnormal_foot_pigmentation0.59509326
113MP0003632_abnormal_nervous_system0.59339691
114* MP0010769_abnormal_survival0.58501977
115MP0002177_abnormal_outer_ear0.56408981

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.37934249
2Focal seizures (HP:0007359)4.86725117
3Myokymia (HP:0002411)4.53149913
4Hyperventilation (HP:0002883)4.34973818
5Febrile seizures (HP:0002373)4.26809137
6Epileptic encephalopathy (HP:0200134)4.11380314
7Limb dystonia (HP:0002451)3.87296412
8Visual hallucinations (HP:0002367)3.77347942
9Atonic seizures (HP:0010819)3.72385528
10Broad-based gait (HP:0002136)3.67183245
11Progressive cerebellar ataxia (HP:0002073)3.56282469
12Excessive salivation (HP:0003781)3.41328225
13Drooling (HP:0002307)3.41328225
14Absence seizures (HP:0002121)3.40747146
15Dialeptic seizures (HP:0011146)3.23550847
16Amblyopia (HP:0000646)3.20286633
17Protruding tongue (HP:0010808)3.19630675
18Generalized tonic-clonic seizures (HP:0002069)3.10949198
19Exotropia (HP:0000577)2.89882338
20Agitation (HP:0000713)2.88244380
21Polyphagia (HP:0002591)2.87801920
22Absent speech (HP:0001344)2.80209929
23Pachygyria (HP:0001302)2.72624522
24Hypothermia (HP:0002045)2.68238020
25Abnormality of the corticospinal tract (HP:0002492)2.61468132
26Gait imbalance (HP:0002141)2.59790777
27Aqueductal stenosis (HP:0002410)2.59678058
28Truncal ataxia (HP:0002078)2.56580826
29Impaired vibration sensation in the lower limbs (HP:0002166)2.54378012
30Blue irides (HP:0000635)2.52028249
31Poor eye contact (HP:0000817)2.51140603
32Abnormality of the parathyroid morphology (HP:0011766)2.47399018
33Epileptiform EEG discharges (HP:0011182)2.45100879
34Gaze-evoked nystagmus (HP:0000640)2.42366710
35Congenital stationary night blindness (HP:0007642)2.41532317
36Amyotrophic lateral sclerosis (HP:0007354)2.40265590
37Oligodactyly (hands) (HP:0001180)2.38221543
38Supranuclear gaze palsy (HP:0000605)2.36272024
39Abnormality of salivation (HP:0100755)2.36254747
40Abnormal eating behavior (HP:0100738)2.35169031
41Ankle clonus (HP:0011448)2.34895742
42Cortical dysplasia (HP:0002539)2.34639457
43Failure to thrive in infancy (HP:0001531)2.34178222
44True hermaphroditism (HP:0010459)2.33916728
45EEG with generalized epileptiform discharges (HP:0011198)2.33504901
46Mutism (HP:0002300)2.32809882
47Progressive inability to walk (HP:0002505)2.32420142
48Anxiety (HP:0000739)2.32370688
49Inappropriate behavior (HP:0000719)2.32020553
50Nephronophthisis (HP:0000090)2.29904762
51Abnormal hair whorl (HP:0010721)2.26743807
52Aplasia/Hypoplasia of the brainstem (HP:0007362)2.23530083
53Hypoplasia of the brainstem (HP:0002365)2.23530083
54Abnormality of the labia minora (HP:0012880)2.22188511
55Esotropia (HP:0000565)2.21759701
56Retinal dysplasia (HP:0007973)2.20630483
57Urinary bladder sphincter dysfunction (HP:0002839)2.20489332
58Termporal pattern (HP:0011008)2.18908784
59Insidious onset (HP:0003587)2.18908784
60Hypsarrhythmia (HP:0002521)2.18658037
61Fetal akinesia sequence (HP:0001989)2.18620756
62Spastic tetraplegia (HP:0002510)2.17572876
63Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.17358796
64Degeneration of the lateral corticospinal tracts (HP:0002314)2.17358796
65Urinary urgency (HP:0000012)2.16913947
66Impaired social interactions (HP:0000735)2.16552547
67Abnormal social behavior (HP:0012433)2.16552547
68Fair hair (HP:0002286)2.15309938
69Depression (HP:0000716)2.14498523
70Sporadic (HP:0003745)2.13406241
71Abnormality of midbrain morphology (HP:0002418)2.13200823
72Molar tooth sign on MRI (HP:0002419)2.13200823
73Pheochromocytoma (HP:0002666)2.12278766
74Specific learning disability (HP:0001328)2.11857396
75Hyperthyroidism (HP:0000836)2.11581621
76Hemiparesis (HP:0001269)2.11572917
77Pancreatic fibrosis (HP:0100732)2.10536794
78Medial flaring of the eyebrow (HP:0010747)2.10184624
79Morphological abnormality of the pyramidal tract (HP:0002062)2.09113620
80Congenital malformation of the right heart (HP:0011723)2.08654064
81Double outlet right ventricle (HP:0001719)2.08654064
82Hepatoblastoma (HP:0002884)2.06453288
83Spastic gait (HP:0002064)2.06066959
84Pancreatic cysts (HP:0001737)2.04395336
85Shawl scrotum (HP:0000049)2.03828715
86Intestinal atresia (HP:0011100)2.03157333
87Abnormality of secondary sexual hair (HP:0009888)2.02815106
88Abnormality of the axillary hair (HP:0100134)2.02815106
89Generalized hypopigmentation of hair (HP:0011358)2.02578225
90Congenital primary aphakia (HP:0007707)2.01977896
91Autism (HP:0000717)2.01098789
92Gastroesophageal reflux (HP:0002020)2.00375555
93Optic nerve hypoplasia (HP:0000609)1.99440238
94Ulnar claw (HP:0001178)1.98635942
95Lissencephaly (HP:0001339)1.97449696
96Sleep apnea (HP:0010535)1.97438126
97Action tremor (HP:0002345)1.97342565
98Nephrogenic diabetes insipidus (HP:0009806)1.95151822
99Intellectual disability, severe (HP:0010864)1.94602344
100Anosmia (HP:0000458)1.92739320
101Inability to walk (HP:0002540)1.92727222
102Akinesia (HP:0002304)1.91430957
103Absent/shortened dynein arms (HP:0200106)1.90565850
104Dynein arm defect of respiratory motile cilia (HP:0012255)1.90565850
105Labial hypoplasia (HP:0000066)1.90209817
106Megalencephaly (HP:0001355)1.90127089
107Abnormality of the renal medulla (HP:0100957)1.89834748
108Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.89186724
109Abnormality of binocular vision (HP:0011514)1.88856357
110Diplopia (HP:0000651)1.88856357
111Genetic anticipation (HP:0003743)1.88381292
112Dysdiadochokinesis (HP:0002075)1.86279223
113Chronic hepatic failure (HP:0100626)1.86014071
114Stereotypic behavior (HP:0000733)1.85700231
115Impaired smooth pursuit (HP:0007772)1.85106243
116Hypoplasia of the corpus callosum (HP:0002079)1.84250801
117Genital tract atresia (HP:0001827)1.83621493
118Abnormal ciliary motility (HP:0012262)1.82717726
119Hypoventilation (HP:0002791)1.81959601
120Open mouth (HP:0000194)1.81289313
121Widely spaced teeth (HP:0000687)1.80489532
122Neuroendocrine neoplasm (HP:0100634)1.80234768
123Tented upper lip vermilion (HP:0010804)1.79006923
124Vaginal atresia (HP:0000148)1.78676593
125Type II lissencephaly (HP:0007260)1.78457963
126Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.78000272
127Lower limb muscle weakness (HP:0007340)1.76444076
128Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.70813559
129Muscular hypotonia of the trunk (HP:0008936)1.70200947
130Abnormality of the pubic bones (HP:0003172)1.69099513
131Poor suck (HP:0002033)1.68937577
132Volvulus (HP:0002580)1.67593535
133Status epilepticus (HP:0002133)1.64926568

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.96615320
2MARK14.84189806
3CASK4.18248488
4EPHA43.31269254
5MAP3K42.97664548
6MAP2K72.87325171
7NTRK22.62300853
8MAPK132.49565149
9TNIK2.36238755
10MAP3K92.24325849
11MINK12.02447033
12PNCK1.93591287
13SIK21.85876276
14FRK1.84024581
15UHMK11.78267184
16MAP3K121.75100429
17DAPK21.67138603
18PINK11.64759444
19KSR11.60941276
20MAP2K41.59051615
21WNK31.44744681
22MAP4K21.37667719
23CDK51.37546551
24PAK61.32741204
25DYRK21.32512259
26EPHA31.30549935
27TRIM281.27881765
28ERBB31.26985459
29PRPF4B1.26454387
30CSNK1G21.20643559
31PHKG21.20328276
32PHKG11.20328276
33PLK21.20124428
34WNK41.19676671
35BCR1.15237210
36DYRK31.14449173
37GRK51.11748581
38DAPK11.09040611
39CAMK2A1.08650506
40NTRK11.08488938
41SGK4941.07447549
42SGK2231.07447549
43PRKCG1.04001593
44RIPK41.03179457
45SGK21.01585289
46FES0.98672712
47CAMK2B0.98374406
48DYRK1A0.96019629
49AKT30.94253419
50MKNK20.90106522
51CSNK1G30.89645799
52PKN10.87775351
53BMPR1B0.85489553
54GRK70.82503505
55PAK30.82479306
56NME10.82400210
57CCNB10.81512561
58FGR0.75371017
59BMPR20.74633067
60CDK180.74036147
61SIK30.72780623
62PRKCE0.70950126
63CAMKK10.70589994
64SGK10.70167586
65CDK150.69781543
66MAP3K60.69653703
67MAP3K20.67828192
68CDK140.67695628
69ADRBK20.67633313
70GRK10.66575408
71MAPK150.66039414
72KSR20.65018078
73YES10.62274207
74STK110.62051000
75CDK190.60776780
76CSNK1A1L0.60701087
77ADRBK10.60107338
78MARK20.59879999
79MUSK0.59795682
80OXSR10.59431835
81CDK11A0.59174794
82CDK30.58577497
83FGFR20.58468619
84CSNK1G10.57442118
85TYRO30.56371545
86INSRR0.55459431
87CAMK1G0.53095661
88DYRK1B0.52178333
89TAOK30.51900109
90PRKCZ0.50757665
91ARAF0.49672060
92FER0.49040788
93SGK30.48296480
94TLK10.46183943
95CSNK1D0.45728071
96EPHB20.45709697
97RPS6KA20.45647563
98TAOK10.45495309
99CAMK10.45224256
100IRAK20.44933216
101CAMK2D0.44844860
102CAMKK20.44654717
103CDC42BPA0.42485942
104RET0.41497386
105PRKG10.40935281
106RPS6KA30.40847442
107MAPK40.38503314
108PRKACA0.38126492
109CAMK40.37314271
110PRKCB0.37202900
111PRKACB0.35770039
112CAMK2G0.35684921
113ICK0.33068131
114RPS6KA40.32834740
115PRKCH0.32367209
116STK390.32334955
117PTK2B0.31446927
118MAPK90.31349413
119MAPK100.31220230
120ROCK10.31218283
121ERBB20.30755707
122PRKAA10.30646452
123CSNK1E0.29336199
124CSNK1A10.27934931
125GSK3B0.27687638
126MKNK10.27644129
127MAPK80.23941840

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.37203294
2Synaptic vesicle cycle_Homo sapiens_hsa047212.91173771
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.83513348
4GABAergic synapse_Homo sapiens_hsa047272.71790397
5Glutamatergic synapse_Homo sapiens_hsa047242.65678280
6Morphine addiction_Homo sapiens_hsa050322.62065737
7Circadian entrainment_Homo sapiens_hsa047132.61333142
8Amphetamine addiction_Homo sapiens_hsa050312.59892033
9Olfactory transduction_Homo sapiens_hsa047402.53395098
10Dopaminergic synapse_Homo sapiens_hsa047282.38432272
11Cocaine addiction_Homo sapiens_hsa050302.31831697
12Long-term potentiation_Homo sapiens_hsa047202.29714715
13Serotonergic synapse_Homo sapiens_hsa047262.21742805
14* Taste transduction_Homo sapiens_hsa047422.04739470
15Cholinergic synapse_Homo sapiens_hsa047251.99216374
16Insulin secretion_Homo sapiens_hsa049111.87463719
17Long-term depression_Homo sapiens_hsa047301.81131610
18Renin secretion_Homo sapiens_hsa049241.76579788
19Axon guidance_Homo sapiens_hsa043601.76522331
20Salivary secretion_Homo sapiens_hsa049701.72131806
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.68251366
22Collecting duct acid secretion_Homo sapiens_hsa049661.65517910
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.57212919
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54762132
25Oxytocin signaling pathway_Homo sapiens_hsa049211.54629926
26Calcium signaling pathway_Homo sapiens_hsa040201.53031676
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46604689
28GnRH signaling pathway_Homo sapiens_hsa049121.43691507
29Gastric acid secretion_Homo sapiens_hsa049711.43077835
30Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.39148980
31Gap junction_Homo sapiens_hsa045401.38902089
32Phototransduction_Homo sapiens_hsa047441.37595866
33Butanoate metabolism_Homo sapiens_hsa006501.35757777
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22416587
35Cardiac muscle contraction_Homo sapiens_hsa042601.20287437
36Alcoholism_Homo sapiens_hsa050341.19827185
37cAMP signaling pathway_Homo sapiens_hsa040241.15969497
38ErbB signaling pathway_Homo sapiens_hsa040121.15773788
39Type II diabetes mellitus_Homo sapiens_hsa049301.11157072
40Oxidative phosphorylation_Homo sapiens_hsa001901.09468895
41Vibrio cholerae infection_Homo sapiens_hsa051101.09347001
42Estrogen signaling pathway_Homo sapiens_hsa049151.07724168
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.04514618
44Alzheimers disease_Homo sapiens_hsa050101.01356018
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00500218
46Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.94951053
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.94449267
48Melanogenesis_Homo sapiens_hsa049160.94216004
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.91087573
50Glioma_Homo sapiens_hsa052140.89506412
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.88925952
52Parkinsons disease_Homo sapiens_hsa050120.88788599
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87007183
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.85523214
55Phosphatidylinositol signaling system_Homo sapiens_hsa040700.83807145
56Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.80872291
57Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.79557000
58MAPK signaling pathway_Homo sapiens_hsa040100.77644406
59Protein export_Homo sapiens_hsa030600.76994318
60Dorso-ventral axis formation_Homo sapiens_hsa043200.76081333
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.72802612
62Dilated cardiomyopathy_Homo sapiens_hsa054140.72227167
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.71544295
64Type I diabetes mellitus_Homo sapiens_hsa049400.68061736
65Choline metabolism in cancer_Homo sapiens_hsa052310.67521741
66Ras signaling pathway_Homo sapiens_hsa040140.66664492
67Linoleic acid metabolism_Homo sapiens_hsa005910.66117675
68Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.66054135
69Oocyte meiosis_Homo sapiens_hsa041140.65813092
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64126702
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62807394
72Huntingtons disease_Homo sapiens_hsa050160.62681759
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62265051
74Ovarian steroidogenesis_Homo sapiens_hsa049130.61712085
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61023350
76Regulation of autophagy_Homo sapiens_hsa041400.60450079
77Basal cell carcinoma_Homo sapiens_hsa052170.59286440
78Wnt signaling pathway_Homo sapiens_hsa043100.59263844
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.58825880
80Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58501015
81Pancreatic secretion_Homo sapiens_hsa049720.57558209
82Steroid biosynthesis_Homo sapiens_hsa001000.54673514
83Circadian rhythm_Homo sapiens_hsa047100.54538337
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53739094
85Hippo signaling pathway_Homo sapiens_hsa043900.52295053
86Tryptophan metabolism_Homo sapiens_hsa003800.52053886
87Thyroid hormone synthesis_Homo sapiens_hsa049180.50347536
88Rap1 signaling pathway_Homo sapiens_hsa040150.47875085
89Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46878609
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.46782276
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45299373
92Colorectal cancer_Homo sapiens_hsa052100.45200561
93Endometrial cancer_Homo sapiens_hsa052130.45087290
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.44780651
95Nitrogen metabolism_Homo sapiens_hsa009100.43609550
96Renal cell carcinoma_Homo sapiens_hsa052110.43110373
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41610765
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.40484943
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40052589
100Phagosome_Homo sapiens_hsa041450.40006844
101Prion diseases_Homo sapiens_hsa050200.39514259
102Glucagon signaling pathway_Homo sapiens_hsa049220.39259743
103Sphingolipid signaling pathway_Homo sapiens_hsa040710.38729867
104Bile secretion_Homo sapiens_hsa049760.38591162
105African trypanosomiasis_Homo sapiens_hsa051430.37420394
106ABC transporters_Homo sapiens_hsa020100.36372963
107Rheumatoid arthritis_Homo sapiens_hsa053230.36163359
108Hedgehog signaling pathway_Homo sapiens_hsa043400.34906958
109Inositol phosphate metabolism_Homo sapiens_hsa005620.33337694
110VEGF signaling pathway_Homo sapiens_hsa043700.33321463
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32649813
112Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.32631172
113Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31462293
114Ether lipid metabolism_Homo sapiens_hsa005650.31150684
115Insulin signaling pathway_Homo sapiens_hsa049100.30805357
116Prolactin signaling pathway_Homo sapiens_hsa049170.30522187
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29066618
118Chemokine signaling pathway_Homo sapiens_hsa040620.25359840
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24761372

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