SCN4A

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. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-mediated cell contraction (GO:0070252)9.82844903
2sarcoplasmic reticulum calcium ion transport (GO:0070296)9.70779688
3skeletal muscle adaptation (GO:0043501)9.03237429
4sarcomere organization (GO:0045214)7.78065115
5plasma membrane repair (GO:0001778)7.63397249
6positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.42482469
7actin filament-based movement (GO:0030048)7.40766653
8skeletal muscle fiber development (GO:0048741)6.79699143
9striated muscle contraction (GO:0006941)6.74424927
10myofibril assembly (GO:0030239)6.72338307
11response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.60227226
12creatine metabolic process (GO:0006600)6.24741727
13carnitine shuttle (GO:0006853)6.20908629
14regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.14330947
15glycogen catabolic process (GO:0005980)6.03089236
16regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.90721422
17regulation of cell communication by electrical coupling (GO:0010649)5.80999424
18myotube cell development (GO:0014904)5.78133950
19striated muscle atrophy (GO:0014891)5.73173749
20skeletal muscle tissue regeneration (GO:0043403)5.63884472
21glucan catabolic process (GO:0009251)5.63584669
22negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.55569705
23pyrimidine ribonucleoside catabolic process (GO:0046133)5.54228789
24response to inactivity (GO:0014854)5.50029841
25response to muscle activity (GO:0014850)5.31407679
26* muscle contraction (GO:0006936)5.28511217
27regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.26256746
28cellular polysaccharide catabolic process (GO:0044247)5.25363017
29cytidine metabolic process (GO:0046087)5.24202755
30cytidine catabolic process (GO:0006216)5.24202755
31cytidine deamination (GO:0009972)5.24202755
32fatty acid transmembrane transport (GO:1902001)5.20343486
33actomyosin structure organization (GO:0031032)5.19983534
34striated muscle adaptation (GO:0014888)5.15884542
35polysaccharide catabolic process (GO:0000272)4.99729933
36muscle atrophy (GO:0014889)4.95267019
37cardiac muscle contraction (GO:0060048)4.84091316
38purine nucleotide salvage (GO:0032261)4.83556042
39regulation of acyl-CoA biosynthetic process (GO:0050812)4.77668829
40* muscle system process (GO:0003012)4.75061924
41regulation of relaxation of muscle (GO:1901077)4.73589752
42cardiac myofibril assembly (GO:0055003)4.72880793
43muscle fiber development (GO:0048747)4.71228071
44glycogen biosynthetic process (GO:0005978)4.69711355
45glucan biosynthetic process (GO:0009250)4.69711355
46carnitine transmembrane transport (GO:1902603)4.58083403
47muscle cell fate commitment (GO:0042693)4.54086524
48negative regulation of potassium ion transmembrane transport (GO:1901380)4.52995398
49regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.37056320
50tricarboxylic acid cycle (GO:0006099)4.34459453
51regulation of coenzyme metabolic process (GO:0051196)4.30306548
52regulation of cofactor metabolic process (GO:0051193)4.30306548
53fructose metabolic process (GO:0006000)4.27332335
54IMP metabolic process (GO:0046040)4.21807475
55muscle adaptation (GO:0043500)4.21478275
56carnitine transport (GO:0015879)4.16555035
57amino-acid betaine transport (GO:0015838)4.16555035
58regulation of actin filament-based movement (GO:1903115)4.15020377
59muscle organ morphogenesis (GO:0048644)4.13130049
60glycogen metabolic process (GO:0005977)4.11899164
61cellular glucan metabolic process (GO:0006073)4.03320815
62glucan metabolic process (GO:0044042)4.03320815
63regulation of striated muscle contraction (GO:0006942)3.94259180
64gluconeogenesis (GO:0006094)3.92513063
65myoblast fusion (GO:0007520)3.88665835
66muscle hypertrophy (GO:0014896)3.88565024
67heart process (GO:0003015)3.86620999
68heart contraction (GO:0060047)3.86620999
69striated muscle cell development (GO:0055002)3.86400696
70cardiac muscle cell development (GO:0055013)3.84087657
71regulation of skeletal muscle cell differentiation (GO:2001014)3.82062590
72negative regulation of muscle hypertrophy (GO:0014741)3.77340592
73positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.70302235
74positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.68950797
75muscle organ development (GO:0007517)3.67239799
76regulation of sequestering of triglyceride (GO:0010889)3.65654285
77myotube differentiation (GO:0014902)3.64830934
78negative regulation of skeletal muscle tissue development (GO:0048642)3.62439116
79muscle structure development (GO:0061061)3.62302495
80regulation of calcium ion transmembrane transporter activity (GO:1901019)3.60642387
81regulation of calcium ion transmembrane transport (GO:1903169)3.60642387
82response to activity (GO:0014823)3.59634133
83cardiac cell development (GO:0055006)3.59017770
84muscle cell cellular homeostasis (GO:0046716)3.58203281
85hexose biosynthetic process (GO:0019319)3.51577919
86regulation of sulfur metabolic process (GO:0042762)3.47753358
87cardiac muscle hypertrophy in response to stress (GO:0014898)3.45866647
88muscle hypertrophy in response to stress (GO:0003299)3.45866647
89cardiac muscle adaptation (GO:0014887)3.45866647
90positive regulation of myotube differentiation (GO:0010831)3.44090010
91syncytium formation by plasma membrane fusion (GO:0000768)3.41775542
92negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.40753376
93regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.36677004
94negative regulation of cAMP-mediated signaling (GO:0043951)3.36259815
95cellular response to dexamethasone stimulus (GO:0071549)3.36000118
96striated muscle tissue development (GO:0014706)3.35686098
97negative regulation of muscle contraction (GO:0045932)3.34937108
98negative regulation of calcium ion transmembrane transport (GO:1903170)3.33969973
99negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.33969973
100striated muscle hypertrophy (GO:0014897)3.33166225
101muscle cell development (GO:0055001)3.31468066
102regulation of myoblast differentiation (GO:0045661)3.30704004
103neuronal action potential propagation (GO:0019227)3.27605828
104skeletal muscle tissue development (GO:0007519)3.27564509
1052-oxoglutarate metabolic process (GO:0006103)3.26658279
106cellular carbohydrate catabolic process (GO:0044275)3.26339349
107regulation of membrane repolarization (GO:0060306)3.24485038
108regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.23611405
109positive regulation of cation channel activity (GO:2001259)3.23550364
110IMP biosynthetic process (GO:0006188)3.20772379
111cardiac muscle hypertrophy (GO:0003300)3.18926498
112muscle tissue morphogenesis (GO:0060415)3.18309895
113NADH metabolic process (GO:0006734)3.16194770
114regulation of myotube differentiation (GO:0010830)3.15681176
115neuromuscular synaptic transmission (GO:0007274)3.14944562
116positive regulation of myoblast differentiation (GO:0045663)3.14793418
117regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.11803056
118cardiac muscle tissue morphogenesis (GO:0055008)3.11494848
119adult heart development (GO:0007512)3.10956735
120muscle filament sliding (GO:0030049)12.0189255
121actin-myosin filament sliding (GO:0033275)12.0189255
122regulation of skeletal muscle contraction (GO:0014819)11.4306794
123skeletal muscle contraction (GO:0003009)10.0575411

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.39594687
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.84245348
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.63867546
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.59949081
5TBX20_22328084_ChIP-Seq_HEART_Mouse3.13841268
6TBX20_22080862_ChIP-Seq_HEART_Mouse3.13841268
7ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.07140284
8ZNF263_19887448_ChIP-Seq_K562_Human2.76683891
9BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.39845946
10PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.37673969
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.34537918
12MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.22794183
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.19019542
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.18995712
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.04806644
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.01196700
17TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87254399
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.82716547
19CTCF_21964334_ChIP-Seq_BJAB-B_Human1.82573487
20KDM2B_26808549_Chip-Seq_DND41_Human1.81996459
21CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.77666594
22ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.71062345
23AR_21572438_ChIP-Seq_LNCaP_Human1.70279638
24CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.67431808
25KDM2B_26808549_Chip-Seq_SUP-B15_Human1.61485645
26STAT6_21828071_ChIP-Seq_BEAS2B_Human1.61375169
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.56615747
28TCF7_22412390_ChIP-Seq_EML_Mouse1.55007569
29CTCF_27219007_Chip-Seq_Bcells_Human1.54067744
30GATA4_21415370_ChIP-Seq_HL-1_Mouse1.53362690
31ESR1_21235772_ChIP-Seq_MCF-7_Human1.51187710
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.51029444
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49487942
34EZH2_22144423_ChIP-Seq_EOC_Human1.47920094
35* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47708373
36NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.46325308
37BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.45372880
38CLOCK_20551151_ChIP-Seq_293T_Human1.40608816
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.40268114
40MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.36678671
41PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.35427315
42ZNF274_21170338_ChIP-Seq_K562_Hela1.32304022
43CTCF_21964334_Chip-Seq_Bcells_Human1.31249704
44ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.30062515
45NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.29757697
46LXR_22292898_ChIP-Seq_THP-1_Human1.29343505
47SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.28601553
48DNAJC2_21179169_ChIP-ChIP_NT2_Human1.28050615
49PPARA_22158963_ChIP-Seq_LIVER_Mouse1.27714795
50SA1_27219007_Chip-Seq_Bcells_Human1.27286586
51MAF_26560356_Chip-Seq_TH1_Human1.25607388
52FOXH1_21741376_ChIP-Seq_ESCs_Human1.25161137
53FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.23907017
54STAT1_20625510_ChIP-Seq_HELA_Human1.22463705
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.20678265
56P63_26484246_Chip-Seq_KERATINOCYTES_Human1.18671429
57SMC1_22415368_ChIP-Seq_MEFs_Mouse1.18137973
58OCT4_20526341_ChIP-Seq_ESCs_Human1.17053667
59ELK3_25401928_ChIP-Seq_HUVEC_Human1.15948431
60P68_20966046_ChIP-Seq_HELA_Human1.15750842
61EZH2_27294783_Chip-Seq_ESCs_Mouse1.15051778
62KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.14636541
63DROSHA_22980978_ChIP-Seq_HELA_Human1.14582026
64RACK7_27058665_Chip-Seq_MCF-7_Human1.12684300
65SMC3_22415368_ChIP-Seq_MEFs_Mouse1.11929166
66CREB1_26743006_Chip-Seq_LNCaP_Human1.11665890
67CTCF_27219007_Chip-Seq_ERYTHROID_Human1.10575643
68SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.10508519
69MYC_22102868_ChIP-Seq_BL_Human1.10369505
70RXR_22158963_ChIP-Seq_LIVER_Mouse1.09633252
71TDRD3_21172665_ChIP-Seq_MCF-7_Human1.09606518
72RARB_27405468_Chip-Seq_BRAIN_Mouse1.09325788
73ELF1_20517297_ChIP-Seq_JURKAT_Human1.07810394
74* MYC_27129775_Chip-Seq_CORNEA_Mouse1.07727595
75NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.06866846
76YY1_22570637_ChIP-Seq_MALME-3M_Human1.05948191
77BCL6_27268052_Chip-Seq_Bcells_Human1.05592367
78VDR_21846776_ChIP-Seq_THP-1_Human1.04606061
79FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.03650861
80NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01202992
81KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.01131827
82CTCF_26484167_Chip-Seq_Bcells_Mouse1.00416968
83ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00034831
84ATF3_27146783_Chip-Seq_COLON_Human0.99930160
85TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99697425
86* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99609991
87E2F1_20622854_ChIP-Seq_HELA_Human0.99452389
88LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.97384518
89GATA1_22025678_ChIP-Seq_K562_Human0.97297573
90* STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.97030401
91* TP63_22573176_ChIP-Seq_HFKS_Human0.96783036
92ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.96727074
93GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.96720268
94MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96648622
95E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.96340884
96* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.95884029
97IGF1R_20145208_ChIP-Seq_DFB_Human0.94297612
98* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.93230121
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92901045
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.92314054
101RUNX1_27514584_Chip-Seq_MCF-7_Human0.91364593
102SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91048297
103* SPI1_20517297_ChIP-Seq_HL60_Human0.90965281
104CEBPB_22108803_ChIP-Seq_LS180_Human0.89965204
105GATA1_19941827_ChIP-Seq_MEL_Mouse0.89670521
106KDM2B_26808549_Chip-Seq_K562_Human0.89588961
107NANOG_20526341_ChIP-Seq_ESCs_Human0.89509824
108BCOR_27268052_Chip-Seq_Bcells_Human0.89018894
109RAD21_21589869_ChIP-Seq_MESCs_Mouse0.88565181
110PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.88523896
111GATA1_19941826_ChIP-Seq_K562_Human0.88195568
112ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.88056865
113MAF_26560356_Chip-Seq_TH2_Human0.87859673
114CIITA_25753668_ChIP-Seq_RAJI_Human0.87367916
115ERG_21242973_ChIP-ChIP_JURKAT_Human0.85694794
116KDM2B_26808549_Chip-Seq_JURKAT_Human0.85642609
117WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.85399825
118LXR_22158963_ChIP-Seq_LIVER_Mouse0.85381430
119STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84801094
120PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.84716819
121* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82784869
122DPY_21335234_ChIP-Seq_ESCs_Mouse0.82562779
123CRX_20693478_ChIP-Seq_RETINA_Mouse0.80809722
124CBX2_27304074_Chip-Seq_ESCs_Mouse0.80539163
125* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.80433286
126SMC4_20622854_ChIP-Seq_HELA_Human0.79201989
127GATA3_21867929_ChIP-Seq_CD8_Mouse0.78361462
128SUZ12_27294783_Chip-Seq_NPCs_Mouse0.77870853
129* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.77064587
130SA1_27219007_Chip-Seq_ERYTHROID_Human0.76745631
131P53_22127205_ChIP-Seq_FIBROBLAST_Human0.76544302
132OCT4_21477851_ChIP-Seq_ESCs_Mouse0.76101463
133TP53_23651856_ChIP-Seq_MEFs_Mouse0.73419627
134CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73294760
135* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.72996832
136* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.72607710

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.29856077
2MP0000749_muscle_degeneration6.51208568
3* MP0000751_myopathy5.03687124
4MP0002837_dystrophic_cardiac_calcinosis4.91433786
5* MP0003646_muscle_fatigue4.40299795
6* MP0002106_abnormal_muscle_physiology4.13403561
7* MP0004036_abnormal_muscle_relaxation3.87759172
8* MP0000747_muscle_weakness3.80131302
9* MP0000759_abnormal_skeletal_muscle3.73655672
10* MP0004087_abnormal_muscle_fiber3.64615438
11MP0000750_abnormal_muscle_regeneration3.50134487
12MP0004130_abnormal_muscle_cell3.48337816
13* MP0005369_muscle_phenotype3.42803025
14* MP0002269_muscular_atrophy3.35091469
15* MP0005620_abnormal_muscle_contractility3.20825044
16MP0004084_abnormal_cardiac_muscle2.85836848
17MP0004233_abnormal_muscle_weight2.76578108
18MP0005330_cardiomyopathy2.64823527
19MP0004215_abnormal_myocardial_fiber2.37237720
20MP0000733_abnormal_muscle_development2.32377860
21MP0002332_abnormal_exercise_endurance2.24939949
22MP0006036_abnormal_mitochondrial_physio2.05318118
23MP0002108_abnormal_muscle_morphology1.95383450
24MP0002972_abnormal_cardiac_muscle1.88655981
25MP0004484_altered_response_of1.79151373
26MP0010630_abnormal_cardiac_muscle1.76493758
27MP0004185_abnormal_adipocyte_glucose1.74707946
28MP0005666_abnormal_adipose_tissue1.62212358
29MP0003221_abnormal_cardiomyocyte_apopto1.51663703
30MP0001544_abnormal_cardiovascular_syste1.44026518
31MP0005385_cardiovascular_system_phenoty1.44026518
32MP0002971_abnormal_brown_adipose1.35126665
33MP0003137_abnormal_impulse_conducting1.34229116
34MP0001661_extended_life_span1.31871064
35MP0005375_adipose_tissue_phenotype1.25768194
36MP0008775_abnormal_heart_ventricle1.15427168
37MP0003950_abnormal_plasma_membrane1.14214647
38MP0005266_abnormal_metabolism1.10670047
39MP0000013_abnormal_adipose_tissue1.08983745
40MP0006035_abnormal_mitochondrial_morpho1.07811098
41MP0003806_abnormal_nucleotide_metabolis1.03438366
42MP0004270_analgesia1.01036446
43MP0004510_myositis0.97649516
44MP0002822_catalepsy0.96489333
45MP0006138_congestive_heart_failure0.95618955
46MP0005670_abnormal_white_adipose0.95466588
47MP0008961_abnormal_basal_metabolism0.94951655
48MP0002234_abnormal_pharynx_morphology0.93060731
49MP0003705_abnormal_hypodermis_morpholog0.89789112
50MP0003828_pulmonary_edema0.87063153
51MP0002127_abnormal_cardiovascular_syste0.85044941
52MP0000003_abnormal_adipose_tissue0.79075702
53MP0000266_abnormal_heart_morphology0.78236705
54MP0009780_abnormal_chondrocyte_physiolo0.78127025
55MP0004085_abnormal_heartbeat0.75755370
56MP0000343_altered_response_to0.72712111
57MP0003879_abnormal_hair_cell0.69820226
58MP0004147_increased_porphyrin_level0.68864195
59MP0003656_abnormal_erythrocyte_physiolo0.67896787
60MP0005334_abnormal_fat_pad0.67382278
61MP0002078_abnormal_glucose_homeostasis0.66853624
62MP0004043_abnormal_pH_regulation0.65486442
63MP0004134_abnormal_chest_morphology0.62287536
64MP0005167_abnormal_blood-brain_barrier0.54397874
65MP0010030_abnormal_orbit_morphology0.53301753
66MP0003045_fibrosis0.52108954
67MP0008569_lethality_at_weaning0.50962711
68MP0001299_abnormal_eye_distance/0.50071292
69MP0005275_abnormal_skin_tensile0.49950813
70MP0003567_abnormal_fetal_cardiomyocyte0.48156192
71MP0000762_abnormal_tongue_morphology0.46855921
72MP0005584_abnormal_enzyme/coenzyme_acti0.46335645
73MP0002638_abnormal_pupillary_reflex0.45803203
74MP0000372_irregular_coat_pigmentation0.45087552
75MP0005452_abnormal_adipose_tissue0.44867531
76MP0000230_abnormal_systemic_arterial0.42737968
77MP0009250_abnormal_appendicular_skeleto0.42573394
78MP0002128_abnormal_blood_circulation0.42138260
79MP0005319_abnormal_enzyme/_coenzyme0.41167041
80MP0009115_abnormal_fat_cell0.40823528
81MP0001853_heart_inflammation0.40454016
82MP0005083_abnormal_biliary_tract0.37477348
83MP0003948_abnormal_gas_homeostasis0.36921655
84MP0003959_abnormal_lean_body0.35919353
85MP0001879_abnormal_lymphatic_vessel0.35528746
86MP0001346_abnormal_lacrimal_gland0.33895232
87MP0002896_abnormal_bone_mineralization0.33858204
88MP0002734_abnormal_mechanical_nocicepti0.33499335
89MP0002249_abnormal_larynx_morphology0.33392233
90MP0009672_abnormal_birth_weight0.33360545
91MP0005165_increased_susceptibility_to0.31958965
92MP0005451_abnormal_body_composition0.31086816
93MP0004858_abnormal_nervous_system0.30319301
94MP0002089_abnormal_postnatal_growth/wei0.29841003
95MP0002909_abnormal_adrenal_gland0.29321768
96MP0005423_abnormal_somatic_nervous0.29284159
97MP0002876_abnormal_thyroid_physiology0.27124488
98MP0005535_abnormal_body_temperature0.26899612
99MP0006276_abnormal_autonomic_nervous0.26533839
100MP0005332_abnormal_amino_acid0.25813756
101MP0001849_ear_inflammation0.25582870
102MP0005376_homeostasis/metabolism_phenot0.23471026
103MP0002114_abnormal_axial_skeleton0.23007891
104MP0002118_abnormal_lipid_homeostasis0.22891484
105MP0000767_abnormal_smooth_muscle0.22010172
106MP0004197_abnormal_fetal_growth/weight/0.21719701
107MP0002925_abnormal_cardiovascular_devel0.21291711
108MP0000579_abnormal_nail_morphology0.20401369
109MP0002970_abnormal_white_adipose0.19951062
110MP0003279_aneurysm0.19801914
111MP0005166_decreased_susceptibility_to0.19440554
112MP0001784_abnormal_fluid_regulation0.18993599
113MP0003941_abnormal_skin_development0.18600558
114MP0004142_abnormal_muscle_tone0.18093281
115MP0001943_abnormal_respiration0.17803547
116MP0005076_abnormal_cell_differentiation0.17547408
117MP0003566_abnormal_cell_adhesion0.17528102
118MP0005410_abnormal_fertilization0.16736184
119* MP0002066_abnormal_motor_capabilities/c0.16542289
120MP0009703_decreased_birth_body0.16084871

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.44896267
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.05641468
3Exercise-induced myalgia (HP:0003738)8.89348116
4Nemaline bodies (HP:0003798)8.42926068
5Exercise-induced muscle cramps (HP:0003710)8.13085620
6Muscle hypertrophy of the lower extremities (HP:0008968)7.25851899
7Type 1 muscle fiber predominance (HP:0003803)7.03192841
8Distal arthrogryposis (HP:0005684)6.66733595
9Calf muscle hypertrophy (HP:0008981)6.64403692
10Myopathic facies (HP:0002058)6.23267052
11Muscle fiber splitting (HP:0003555)5.73412901
12Round ear (HP:0100830)5.66510337
13Difficulty running (HP:0009046)5.64423873
14Myoglobinuria (HP:0002913)5.54894908
15Ulnar deviation of the wrist (HP:0003049)5.50194320
16Hyporeflexia of lower limbs (HP:0002600)5.25133701
17EMG: myopathic abnormalities (HP:0003458)4.87390129
18Calcaneovalgus deformity (HP:0001848)4.71834502
19Increased connective tissue (HP:0009025)4.63496505
20Rhabdomyolysis (HP:0003201)4.62306897
21Abnormality of the calf musculature (HP:0001430)4.60596010
22Absent phalangeal crease (HP:0006109)4.39803292
23Deformed tarsal bones (HP:0008119)4.29245444
24Subaortic stenosis (HP:0001682)4.09512287
25Abnormality of the left ventricular outflow tract (HP:0011103)4.09512287
26Abnormality of skeletal muscle fiber size (HP:0012084)3.88200630
27* Muscle stiffness (HP:0003552)3.87915536
28Sudden death (HP:0001699)3.77104834
29Abnormal finger flexion creases (HP:0006143)3.65743767
30Difficulty climbing stairs (HP:0003551)3.60342229
31Increased variability in muscle fiber diameter (HP:0003557)3.52853997
32Neck muscle weakness (HP:0000467)3.52588341
33Rimmed vacuoles (HP:0003805)3.46651324
34Asymmetric septal hypertrophy (HP:0001670)3.30745026
35Areflexia of lower limbs (HP:0002522)3.28396122
36Frequent falls (HP:0002359)3.16787467
37* Myotonia (HP:0002486)3.15354010
38Pelvic girdle muscle weakness (HP:0003749)3.03930116
39Shoulder girdle muscle weakness (HP:0003547)2.97624799
40Abnormality of the hip-girdle musculature (HP:0001445)2.96818199
41Abnormality of the musculature of the pelvis (HP:0001469)2.96818199
42Ventricular tachycardia (HP:0004756)2.81963115
43Abnormality of the calcaneus (HP:0008364)2.80389832
44Distal lower limb muscle weakness (HP:0009053)2.70188849
45EMG: neuropathic changes (HP:0003445)2.63390780
46* Malignant hyperthermia (HP:0002047)2.55701314
47Muscular dystrophy (HP:0003560)2.46072951
48Facial diplegia (HP:0001349)2.40357344
49Slender build (HP:0001533)2.40323629
50Generalized muscle weakness (HP:0003324)2.36925130
51Proximal amyotrophy (HP:0007126)2.36287420
52Hypoplastic ischia (HP:0003175)2.35177798
53Mildly elevated creatine phosphokinase (HP:0008180)2.33856351
54Limb-girdle muscle weakness (HP:0003325)2.31586446
55Limb-girdle muscle atrophy (HP:0003797)2.31356632
56Lipoatrophy (HP:0100578)2.27696586
57Bulbar palsy (HP:0001283)2.27322519
58Popliteal pterygium (HP:0009756)2.25849491
59Gowers sign (HP:0003391)2.21087605
60Centrally nucleated skeletal muscle fibers (HP:0003687)2.18533606
61Distal lower limb amyotrophy (HP:0008944)2.18329772
62Scapular winging (HP:0003691)2.12284265
63Progressive muscle weakness (HP:0003323)2.10113717
64Dilated cardiomyopathy (HP:0001644)2.09068433
65Weak cry (HP:0001612)2.08459374
66Abnormality of the ischium (HP:0003174)2.04830194
67Long clavicles (HP:0000890)2.03991462
68Abnormality of the shoulder girdle musculature (HP:0001435)2.02940654
69Spinal rigidity (HP:0003306)2.01908722
70Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.01573154
71Nonprogressive disorder (HP:0003680)1.95193205
72Bundle branch block (HP:0011710)1.91514129
73Type 2 muscle fiber atrophy (HP:0003554)1.91195125
74Waddling gait (HP:0002515)1.81101596
75Muscle fiber atrophy (HP:0100295)1.78784187
76Ulnar deviation of finger (HP:0009465)1.78357142
77Metatarsus adductus (HP:0001840)1.75060211
78Fetal akinesia sequence (HP:0001989)1.75003319
79Increased density of long bones (HP:0006392)1.73143969
80Right ventricular cardiomyopathy (HP:0011663)1.71736629
81Palpitations (HP:0001962)1.69349199
82Atrial fibrillation (HP:0005110)1.69011532
83Achilles tendon contracture (HP:0001771)1.68649398
84Hip contracture (HP:0003273)1.68565563
85Oligomenorrhea (HP:0000876)1.67123105
86Cholelithiasis (HP:0001081)1.66165033
87Abnormality of placental membranes (HP:0011409)1.63896490
88Amniotic constriction ring (HP:0009775)1.63896490
89Lower limb amyotrophy (HP:0007210)1.61183073
90* Abnormality of the neuromuscular junction (HP:0003398)1.58514308
91Heart block (HP:0012722)1.58352255
92Ragged-red muscle fibers (HP:0003200)1.57839052
93Primary atrial arrhythmia (HP:0001692)1.56817678
94* Hyperkalemia (HP:0002153)1.56810090
95Ventricular arrhythmia (HP:0004308)1.56664843
96Exercise intolerance (HP:0003546)1.55453086
97Limited hip movement (HP:0008800)1.54514274
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.52854422
99Foot dorsiflexor weakness (HP:0009027)1.52671386
100Increased purine levels (HP:0004368)1.52424460
101Hyperuricemia (HP:0002149)1.52424460
102Easy fatigability (HP:0003388)1.51504346
103Abnormality of the Achilles tendon (HP:0005109)1.51309449
104Prolonged QT interval (HP:0001657)1.51068040
105Supraventricular tachycardia (HP:0004755)1.50327825
106Abnormal atrioventricular conduction (HP:0005150)1.49555027
107Abnormality of the foot musculature (HP:0001436)1.48125317
108Short palpebral fissure (HP:0012745)1.47262221
109Supraventricular arrhythmia (HP:0005115)1.46599929
110Toxemia of pregnancy (HP:0100603)1.45010440
111* Fatigable weakness (HP:0003473)1.44838405
112Increased muscle lipid content (HP:0009058)1.36818968
113Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.36621556
114Breech presentation (HP:0001623)1.35859306
115Increased intramyocellular lipid droplets (HP:0012240)1.34703070
116Steppage gait (HP:0003376)1.33808271
117Congenital hip dislocation (HP:0001374)1.31918760

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.10236171
2TTN6.62623711
3PHKG15.59465786
4PHKG25.59465786
5NME13.72005632
6PIK3CG3.17735111
7MAP2K32.69762659
8NEK12.23348406
9TRIB32.22996094
10MAP3K72.14606654
11DMPK2.14136738
12PDK32.13713063
13PDK42.13713063
14PINK12.13325198
15PIK3CA1.73419075
16BCKDK1.70224624
17MAPK121.67885438
18MUSK1.61572119
19PDK21.33543977
20MAP2K41.28100431
21MAP2K61.16359907
22PKN21.14913261
23MOS1.11424174
24MARK10.96885224
25PRKAA20.95240058
26MAPKAPK30.92689396
27PRKAA10.91283849
28CCNB10.88642913
29STK240.88437387
30MAP3K30.82528390
31MAP3K100.82467288
32NEK90.81228636
33MAP3K130.78455574
34TRPM70.69556922
35ZAK0.67293217
36EPHB10.61696362
37SIK10.59665173
38EEF2K0.58596961
39AKT20.58398261
40MAPK110.58325717
41TIE10.55555302
42TAOK20.54452007
43CAMK10.54118664
44LMTK20.52860456
45ILK0.51472554
46LATS20.50697245
47RIPK10.47958318
48TAOK10.47446662
49PRKD10.46397253
50CAMK2G0.46089911
51PKN10.45308310
52ERBB30.43500142
53PTK60.42982476
54MAP3K50.42399886
55MAP3K110.40456777
56ERN10.37311627
57CAMK2A0.34233788
58CAMK2B0.32727903
59ROCK10.32658813
60SGK20.31959813
61MARK20.31018903
62LRRK20.30974889
63MAPK70.30856668
64SGK10.29977355
65TYK20.29537593
66TGFBR20.28839306
67RPS6KB10.27352136
68CAMK2D0.27035113
69CAMK1G0.26267673
70MAPK100.25959472
71MYLK0.25596443
72MAP4K10.25552143
73TBK10.24381658
74INSRR0.23671939
75PRKG10.23243494
76PRPF4B0.23184722
77PDK10.22072369
78MAPK40.22029661
79RPS6KB20.21822644
80PRKACA0.21434800
81MAP3K10.21302036
82PDPK10.20857287
83MAP3K60.20279683
84ICK0.19023909
85LATS10.18666425
86JAK10.18289083
87NLK0.17819339
88* RPS6KA30.17484251
89ARAF0.16721858
90CDK190.16361086
91MAP2K10.16168402
92MAPK130.15427220
93SGK2230.15366956
94SGK4940.15366956
95SGK30.14530148
96KSR20.13770561
97FLT30.13614021
98DYRK1B0.13514622
99RPS6KA10.13513328
100MTOR0.13169685
101* PRKACB0.12519548
102ROCK20.12449531
103WNK10.11448931
104DDR20.10904131
105MARK30.10610304
106PRKACG0.10279204
107RPS6KA60.10241159
108TESK10.09324106
109STK110.09145307
110JAK20.08480601
111PRKCH0.08101577
112GSK3B0.07690607
113KDR0.07472853
114DAPK20.07116064
115HCK0.07108376
116ZAP700.06495742
117BRAF0.06462827
118MAPK90.06326623
119MAP3K90.06253229
120LIMK10.05173182
121CSNK1D0.04673570
122RPS6KA20.03669137
123CAMK40.03063091
124MAPK80.02479843
125PAK60.02239451
126FGFR30.02167695
127PAK30.02115000
128RPS6KL10.01908717
129RPS6KC10.01908717
130CDC42BPA0.01678480
131PTK2B0.01665100

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.76495657
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.32177302
3Cardiac muscle contraction_Homo sapiens_hsa042603.83329945
4Dilated cardiomyopathy_Homo sapiens_hsa054143.70143394
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.62635413
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.43710092
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.86348595
8Propanoate metabolism_Homo sapiens_hsa006402.59097217
9Starch and sucrose metabolism_Homo sapiens_hsa005002.48247881
10Carbon metabolism_Homo sapiens_hsa012002.22463941
11Glucagon signaling pathway_Homo sapiens_hsa049222.17459308
12Insulin signaling pathway_Homo sapiens_hsa049102.08057566
13Insulin resistance_Homo sapiens_hsa049312.04116828
14Oxytocin signaling pathway_Homo sapiens_hsa049211.91834886
15Circadian rhythm_Homo sapiens_hsa047101.91463439
16Parkinsons disease_Homo sapiens_hsa050121.91223720
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.82321979
18Fatty acid degradation_Homo sapiens_hsa000711.78030122
19Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.76822106
20Adipocytokine signaling pathway_Homo sapiens_hsa049201.74886835
21Viral myocarditis_Homo sapiens_hsa054161.73797529
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.70454044
23Alzheimers disease_Homo sapiens_hsa050101.70236571
24Oxidative phosphorylation_Homo sapiens_hsa001901.62362432
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.56109291
26AMPK signaling pathway_Homo sapiens_hsa041521.55817256
27Calcium signaling pathway_Homo sapiens_hsa040201.49792299
28Pyruvate metabolism_Homo sapiens_hsa006201.44444947
29Galactose metabolism_Homo sapiens_hsa000521.36683099
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.31717670
31Biosynthesis of amino acids_Homo sapiens_hsa012301.28301306
32cGMP-PKG signaling pathway_Homo sapiens_hsa040221.23980576
33Fatty acid metabolism_Homo sapiens_hsa012121.23972362
34Fructose and mannose metabolism_Homo sapiens_hsa000511.21668373
35Arginine and proline metabolism_Homo sapiens_hsa003301.06189260
36Tight junction_Homo sapiens_hsa045301.00237813
37Nitrogen metabolism_Homo sapiens_hsa009101.00012167
38Vascular smooth muscle contraction_Homo sapiens_hsa042700.97233799
39Focal adhesion_Homo sapiens_hsa045100.95267190
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.92491686
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91443010
42FoxO signaling pathway_Homo sapiens_hsa040680.88027084
43HIF-1 signaling pathway_Homo sapiens_hsa040660.86472464
44Huntingtons disease_Homo sapiens_hsa050160.85279847
45Gastric acid secretion_Homo sapiens_hsa049710.85186119
46Longevity regulating pathway - mammal_Homo sapiens_hsa042110.84443944
47Central carbon metabolism in cancer_Homo sapiens_hsa052300.82059400
48Long-term potentiation_Homo sapiens_hsa047200.79657873
49GnRH signaling pathway_Homo sapiens_hsa049120.78614134
50Pentose phosphate pathway_Homo sapiens_hsa000300.77487221
51mTOR signaling pathway_Homo sapiens_hsa041500.73818526
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72242514
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71223860
54VEGF signaling pathway_Homo sapiens_hsa043700.69823457
55Type II diabetes mellitus_Homo sapiens_hsa049300.66090989
56Arginine biosynthesis_Homo sapiens_hsa002200.66049112
57B cell receptor signaling pathway_Homo sapiens_hsa046620.64715487
58MAPK signaling pathway_Homo sapiens_hsa040100.62394525
59Renin secretion_Homo sapiens_hsa049240.61771732
60PPAR signaling pathway_Homo sapiens_hsa033200.61593220
61Platelet activation_Homo sapiens_hsa046110.57528535
62Fatty acid biosynthesis_Homo sapiens_hsa000610.57264684
63Leukocyte transendothelial migration_Homo sapiens_hsa046700.52390798
64Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46430692
65Butanoate metabolism_Homo sapiens_hsa006500.45669802
66Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44058513
67beta-Alanine metabolism_Homo sapiens_hsa004100.43320683
68Insulin secretion_Homo sapiens_hsa049110.42521910
69Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40789707
70Histidine metabolism_Homo sapiens_hsa003400.38916147
71Lysine degradation_Homo sapiens_hsa003100.38783268
72Salivary secretion_Homo sapiens_hsa049700.38514923
73Adherens junction_Homo sapiens_hsa045200.38359834
74Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37970468
75Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36492734
76Renal cell carcinoma_Homo sapiens_hsa052110.36427385
77Tyrosine metabolism_Homo sapiens_hsa003500.34807177
78Proteoglycans in cancer_Homo sapiens_hsa052050.34563877
79Amoebiasis_Homo sapiens_hsa051460.33311790
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33087441
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.30734981
82Glioma_Homo sapiens_hsa052140.26762294
83Thyroid hormone signaling pathway_Homo sapiens_hsa049190.25202726
84Thyroid cancer_Homo sapiens_hsa052160.22460769
85Melanogenesis_Homo sapiens_hsa049160.22204781
86Purine metabolism_Homo sapiens_hsa002300.20863598
87Phenylalanine metabolism_Homo sapiens_hsa003600.20859604
88Tryptophan metabolism_Homo sapiens_hsa003800.20524489
89Acute myeloid leukemia_Homo sapiens_hsa052210.20046884
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.19586972
91Fatty acid elongation_Homo sapiens_hsa000620.19256755
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.19082685
93Osteoclast differentiation_Homo sapiens_hsa043800.18876223
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.17516769
95Olfactory transduction_Homo sapiens_hsa047400.17364033
96Cholinergic synapse_Homo sapiens_hsa047250.16562950
97Ovarian steroidogenesis_Homo sapiens_hsa049130.16387337
98Toxoplasmosis_Homo sapiens_hsa051450.16053798
99ECM-receptor interaction_Homo sapiens_hsa045120.15946354
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.15890503
101Regulation of autophagy_Homo sapiens_hsa041400.15160121
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.14475132
103Prolactin signaling pathway_Homo sapiens_hsa049170.14408163
104Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.13983365
105Oocyte meiosis_Homo sapiens_hsa041140.12546813
106Amphetamine addiction_Homo sapiens_hsa050310.12187408
107Pancreatic secretion_Homo sapiens_hsa049720.11962602
108Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.10596822
109cAMP signaling pathway_Homo sapiens_hsa040240.10010381
110Dorso-ventral axis formation_Homo sapiens_hsa043200.09980158
111Sulfur relay system_Homo sapiens_hsa041220.09567111
112Chronic myeloid leukemia_Homo sapiens_hsa052200.09287461
113Circadian entrainment_Homo sapiens_hsa047130.09195319
114Peroxisome_Homo sapiens_hsa041460.06902108
115Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.06494386
116Non-small cell lung cancer_Homo sapiens_hsa052230.05890874
117Leishmaniasis_Homo sapiens_hsa051400.05399988
118Long-term depression_Homo sapiens_hsa047300.04765521
119ABC transporters_Homo sapiens_hsa020100.04182136
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.03755867
121Metabolic pathways_Homo sapiens_hsa011000.02784965

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