CACNA1S

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





Description: This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin filament-based movement (GO:0030048)8.51873531
2plasma membrane repair (GO:0001778)8.32984714
3* skeletal muscle fiber development (GO:0048741)7.24057532
4response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.99760948
5positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.91886599
6sarcomere organization (GO:0045214)6.91505167
7skeletal muscle tissue regeneration (GO:0043403)6.68568509
8* striated muscle contraction (GO:0006941)6.68061993
9* skeletal muscle adaptation (GO:0043501)6.53456743
10glycogen catabolic process (GO:0005980)6.42246825
11striated muscle atrophy (GO:0014891)6.37116073
12creatine metabolic process (GO:0006600)6.31184480
13response to inactivity (GO:0014854)6.17383042
14* myotube cell development (GO:0014904)6.11892800
15pyrimidine ribonucleoside catabolic process (GO:0046133)6.08719481
16myofibril assembly (GO:0030239)6.04917619
17glucan catabolic process (GO:0009251)6.00873020
18carnitine shuttle (GO:0006853)6.00019072
19cytidine metabolic process (GO:0046087)5.87924896
20cytidine catabolic process (GO:0006216)5.87924896
21cytidine deamination (GO:0009972)5.87924896
22* muscle contraction (GO:0006936)5.83826821
23response to muscle activity (GO:0014850)5.83720952
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.79497947
25regulation of cell communication by electrical coupling (GO:0010649)5.62838219
26purine nucleotide salvage (GO:0032261)5.62141046
27cellular polysaccharide catabolic process (GO:0044247)5.58012088
28regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.56381555
29muscle atrophy (GO:0014889)5.54294701
30negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.37421716
31polysaccharide catabolic process (GO:0000272)5.32656778
32* muscle system process (GO:0003012)5.18895593
33fatty acid transmembrane transport (GO:1902001)5.02920463
34glycogen biosynthetic process (GO:0005978)5.00820187
35glucan biosynthetic process (GO:0009250)5.00820187
36IMP metabolic process (GO:0046040)4.92543097
37NADH metabolic process (GO:0006734)4.91619433
38actomyosin structure organization (GO:0031032)4.89314802
39cardiac muscle hypertrophy (GO:0003300)4.72946283
40regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.70538047
41positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.65451512
42* muscle fiber development (GO:0048747)4.52777033
43striated muscle hypertrophy (GO:0014897)4.51413242
44carnitine transmembrane transport (GO:1902603)4.40668879
45negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.40351383
46muscle cell cellular homeostasis (GO:0046716)4.34393989
47regulation of skeletal muscle cell differentiation (GO:2001014)4.31820582
48glycogen metabolic process (GO:0005977)4.31167580
49fructose metabolic process (GO:0006000)4.29042120
50regulation of acyl-CoA biosynthetic process (GO:0050812)4.26665030
51positive regulation of myotube differentiation (GO:0010831)4.23251216
52cellular glucan metabolic process (GO:0006073)4.22376948
53glucan metabolic process (GO:0044042)4.22376948
54negative regulation of potassium ion transmembrane transport (GO:1901380)4.14236816
55muscle organ morphogenesis (GO:0048644)4.07893766
56cardiac muscle contraction (GO:0060048)4.05382963
57regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.04210374
58muscle hypertrophy (GO:0014896)4.03649219
59negative regulation of muscle hypertrophy (GO:0014741)4.03193489
602-oxoglutarate metabolic process (GO:0006103)4.02966280
61carnitine transport (GO:0015879)4.01101179
62amino-acid betaine transport (GO:0015838)4.01101179
63regulation of relaxation of muscle (GO:1901077)4.00756848
64* striated muscle adaptation (GO:0014888)3.99035850
65muscle tissue morphogenesis (GO:0060415)3.98474871
66* muscle organ development (GO:0007517)3.96397461
67response to activity (GO:0014823)3.94907692
68gluconeogenesis (GO:0006094)3.90691558
69* muscle structure development (GO:0061061)3.90391324
70neuromuscular synaptic transmission (GO:0007274)3.90210047
71regulation of cofactor metabolic process (GO:0051193)3.84109613
72regulation of coenzyme metabolic process (GO:0051196)3.84109613
73IMP biosynthetic process (GO:0006188)3.82984151
74myotube differentiation (GO:0014902)3.81131963
75adult heart development (GO:0007512)3.79392595
76negative regulation of skeletal muscle tissue development (GO:0048642)3.77032135
77cardiac muscle tissue morphogenesis (GO:0055008)3.75906509
78muscle cell fate commitment (GO:0042693)3.75815042
79neuronal action potential propagation (GO:0019227)3.67624089
80negative regulation of muscle contraction (GO:0045932)3.55818108
81* striated muscle cell development (GO:0055002)3.52400823
82cellular response to dexamethasone stimulus (GO:0071549)3.51249354
83positive regulation of myoblast differentiation (GO:0045663)3.50998522
84regulation of calcium ion transmembrane transporter activity (GO:1901019)3.50440388
85regulation of calcium ion transmembrane transport (GO:1903169)3.50440388
86regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.50211769
87tricarboxylic acid cycle (GO:0006099)3.49787712
88hexose biosynthetic process (GO:0019319)3.49230304
89regulation of striated muscle contraction (GO:0006942)3.48867518
90cellular carbohydrate catabolic process (GO:0044275)3.48685672
91negative regulation of calcium ion transmembrane transport (GO:1903170)3.47852969
92negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.47852969
93* skeletal muscle tissue development (GO:0007519)3.45364021
94cardiac myofibril assembly (GO:0055003)3.41449170
95cardiac muscle adaptation (GO:0014887)3.40449736
96cardiac muscle hypertrophy in response to stress (GO:0014898)3.40449736
97muscle hypertrophy in response to stress (GO:0003299)3.40449736
98regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.37428044
99regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.35260325
100regulation of myoblast differentiation (GO:0045661)3.35242415
101negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.29721509
102cardiac cell development (GO:0055006)3.28718923
103relaxation of muscle (GO:0090075)3.27049283
104ubiquinone biosynthetic process (GO:0006744)3.25779466
105response to dexamethasone (GO:0071548)3.25658978
106regulation of muscle system process (GO:0090257)3.24611426
107regulation of the force of heart contraction (GO:0002026)3.23808443
108positive regulation of cation channel activity (GO:2001259)3.21448457
109negative regulation of cAMP-mediated signaling (GO:0043951)3.19573602
110* muscle adaptation (GO:0043500)3.18774073
111* striated muscle tissue development (GO:0014706)3.18144285
112skeletal muscle cell differentiation (GO:0035914)3.17634668
113positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.17590020
114regulation of actin filament-based movement (GO:1903115)3.14646490
115regulation of sulfur metabolic process (GO:0042762)3.11929948
116cardiac muscle cell development (GO:0055013)3.05579499
117heart contraction (GO:0060047)3.04447479
118heart process (GO:0003015)3.04447479
119* muscle cell development (GO:0055001)3.00679184
120cellular polysaccharide metabolic process (GO:0044264)3.00144667
121cellular polysaccharide biosynthetic process (GO:0033692)2.94568879
122muscle filament sliding (GO:0030049)13.9016785
123actin-myosin filament sliding (GO:0033275)13.9016785
124regulation of skeletal muscle contraction (GO:0014819)12.6954192
125skeletal muscle contraction (GO:0003009)12.3003818
126actin-mediated cell contraction (GO:0070252)11.3569725
127sarcoplasmic reticulum calcium ion transport (GO:0070296)10.8721877

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.05570253
2EZH2_22144423_ChIP-Seq_EOC_Human5.00039864
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.28446222
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.69967133
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.56579554
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.45549151
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.38908345
8ZNF263_19887448_ChIP-Seq_K562_Human2.81933023
9ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.73774563
10TBX20_22328084_ChIP-Seq_HEART_Mouse2.71875113
11TBX20_22080862_ChIP-Seq_HEART_Mouse2.71875113
12BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.57968913
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.47942970
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.39411424
15ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.09496512
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.05487194
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04850365
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.03005947
19ESR1_21235772_ChIP-Seq_MCF-7_Human1.96629625
20MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.93965565
21* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.87093643
22AR_21572438_ChIP-Seq_LNCaP_Human1.76616792
23CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.74409872
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.74040211
25TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69461931
26ZNF274_21170338_ChIP-Seq_K562_Hela1.68701226
27EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.68071129
28* CTCF_27219007_Chip-Seq_Bcells_Human1.67915829
29TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.67152252
30* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.65059182
31BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.59662863
32RBPJ_22232070_ChIP-Seq_NCS_Mouse1.59046443
33PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.59005056
34TP63_17297297_ChIP-ChIP_HaCaT_Human1.56295919
35KDM2B_26808549_Chip-Seq_DND41_Human1.54073855
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.53292819
37SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.53184004
38CLOCK_20551151_ChIP-Seq_293T_Human1.50150385
39P63_26484246_Chip-Seq_KERATINOCYTES_Human1.45742738
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.45693242
41FOXH1_21741376_ChIP-Seq_ESCs_Human1.39225285
42* SA1_27219007_Chip-Seq_Bcells_Human1.35283598
43IGF1R_20145208_ChIP-Seq_DFB_Human1.33353126
44NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.32860064
45RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.32747929
46STAT1_20625510_ChIP-Seq_HELA_Human1.32005926
47LXR_22292898_ChIP-Seq_THP-1_Human1.31901954
48* CTCF_21964334_Chip-Seq_Bcells_Human1.30391799
49YY1_22570637_ChIP-Seq_MALME-3M_Human1.30256534
50EP300_21415370_ChIP-Seq_HL-1_Mouse1.30096353
51ZFP281_18757296_ChIP-ChIP_E14_Mouse1.27843530
52OCT4_20526341_ChIP-Seq_ESCs_Human1.23933605
53TCF7_22412390_ChIP-Seq_EML_Mouse1.23906359
54PPARA_22158963_ChIP-Seq_LIVER_Mouse1.20425137
55UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.19991295
56SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.17493430
57GATA4_21415370_ChIP-Seq_HL-1_Mouse1.17352311
58LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.16443051
59* RACK7_27058665_Chip-Seq_MCF-7_Human1.16217587
60* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.14507459
61* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.13999646
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13389699
63DROSHA_22980978_ChIP-Seq_HELA_Human1.13241575
64P68_20966046_ChIP-Seq_HELA_Human1.12375643
65CTCF_26484167_Chip-Seq_Bcells_Mouse1.11356398
66* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.11285178
67RARB_27405468_Chip-Seq_BRAIN_Mouse1.10609292
68STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.10057926
69STAT6_21828071_ChIP-Seq_BEAS2B_Human1.09804848
70ELF1_20517297_ChIP-Seq_JURKAT_Human1.09036662
71IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.08890935
72CBP_20019798_ChIP-Seq_JUKART_Human1.08890935
73* CREB1_26743006_Chip-Seq_LNCaP_Human1.06798532
74RAC3_21632823_ChIP-Seq_H3396_Human1.05869141
75E2F1_20622854_ChIP-Seq_HELA_Human1.04964640
76* CRX_20693478_ChIP-Seq_RETINA_Mouse1.04946993
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.04594480
78* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.04004865
79ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.03961416
80TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03947622
81MYC_27129775_Chip-Seq_CORNEA_Mouse1.03087039
82ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.03033341
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02508831
84SPI1_20517297_ChIP-Seq_HL60_Human1.02347270
85TP63_22573176_ChIP-Seq_HFKS_Human1.01879669
86* EZH2_27294783_Chip-Seq_ESCs_Mouse1.01776430
87BCL6_27268052_Chip-Seq_Bcells_Human1.01528322
88PCGF2_27294783_Chip-Seq_ESCs_Mouse1.01210754
89GBX2_23144817_ChIP-Seq_PC3_Human1.00517010
90* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.00473071
91TP53_20018659_ChIP-ChIP_R1E_Mouse1.00210856
92CEBPB_22108803_ChIP-Seq_LS180_Human1.00146210
93* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97790811
94NANOG_20526341_ChIP-Seq_ESCs_Human0.97683232
95* ATF3_27146783_Chip-Seq_COLON_Human0.97591353
96NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97450572
97* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95559476
98* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.95081498
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94579918
100* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93464397
101SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.93311971
102RXR_22158963_ChIP-Seq_LIVER_Mouse0.93179598
103MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.92896438
104KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.92787736
105* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.92109649
106HIF1A_21447827_ChIP-Seq_MCF-7_Human0.92031996
107GATA1_19941827_ChIP-Seq_MEL_Mouse0.91758910
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.91273317
109CSB_26484114_Chip-Seq_FIBROBLAST_Human0.91249807
110* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.90601503
111SA1_27219007_Chip-Seq_ERYTHROID_Human0.90091463
112STAT3_1855785_ChIP-Seq_MESCs_Mouse0.90021158
113LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.89627478
114* EZH2_27294783_Chip-Seq_NPCs_Mouse0.89567594
115FLI1_27457419_Chip-Seq_LIVER_Mouse0.88747568
116LXR_22158963_ChIP-Seq_LIVER_Mouse0.88732404
117NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.88589892
118NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88450075
119NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88450075
120GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.88308152
121* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.87837046
122KDM2B_26808549_Chip-Seq_K562_Human0.87033358
123PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.86869158
124CJUN_26792858_Chip-Seq_BT549_Human0.86712415
125FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.86171984
126SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86119134
127* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.85105896
128SOX2_21211035_ChIP-Seq_LN229_Gbm0.84452569
129HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.83752719
130RUNX1_27514584_Chip-Seq_MCF-7_Human0.83715839
131EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83022993
132KLF4_19829295_ChIP-Seq_ESCs_Human0.82788307
133FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.81231905
134KLF5_20875108_ChIP-Seq_MESCs_Mouse0.80079537
135ER_23166858_ChIP-Seq_MCF-7_Human0.76939419
136E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.76693813
137TRIM28_21343339_ChIP-Seq_HEK293_Human0.76688968
138GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.76620267
139HTT_18923047_ChIP-ChIP_STHdh_Human0.76358232
140STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.75672342
141EGR1_19032775_ChIP-ChIP_M12_Human0.73771336
142SMAD3_21741376_ChIP-Seq_HESCs_Human0.71845529
143GATA1_19941827_ChIP-Seq_MEL86_Mouse0.71615338
144* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.71224401
145RAD21_21589869_ChIP-Seq_MESCs_Mouse0.70356781

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.04279260
2MP0003646_muscle_fatigue6.27101820
3MP0000751_myopathy6.05742626
4* MP0000749_muscle_degeneration5.95489338
5MP0000747_muscle_weakness4.77256739
6* MP0002106_abnormal_muscle_physiology4.26145280
7MP0004036_abnormal_muscle_relaxation4.04806156
8* MP0000759_abnormal_skeletal_muscle3.93438609
9MP0002269_muscular_atrophy3.74803423
10MP0002837_dystrophic_cardiac_calcinosis3.66332825
11* MP0005369_muscle_phenotype3.56151535
12* MP0004087_abnormal_muscle_fiber3.53091614
13MP0000750_abnormal_muscle_regeneration3.52170975
14MP0004130_abnormal_muscle_cell3.22227372
15* MP0005620_abnormal_muscle_contractility3.02199777
16MP0004233_abnormal_muscle_weight2.85980559
17* MP0000733_abnormal_muscle_development2.33738546
18MP0002332_abnormal_exercise_endurance2.20000040
19MP0005330_cardiomyopathy2.06114438
20MP0004084_abnormal_cardiac_muscle1.83375085
21MP0006036_abnormal_mitochondrial_physio1.79739688
22MP0004185_abnormal_adipocyte_glucose1.75605358
23* MP0002108_abnormal_muscle_morphology1.68537850
24MP0004270_analgesia1.67358383
25MP0004215_abnormal_myocardial_fiber1.48199587
26MP0005666_abnormal_adipose_tissue1.44055962
27MP0002972_abnormal_cardiac_muscle1.34897620
28MP0000013_abnormal_adipose_tissue1.34233150
29MP0010630_abnormal_cardiac_muscle1.32664707
30MP0004484_altered_response_of1.28923781
31MP0003950_abnormal_plasma_membrane1.19109844
32MP0001661_extended_life_span1.16278403
33MP0003221_abnormal_cardiomyocyte_apopto1.16047178
34MP0005375_adipose_tissue_phenotype1.15967396
35* MP0002971_abnormal_brown_adipose1.13521118
36MP0005266_abnormal_metabolism1.08765758
37MP0002822_catalepsy1.04697183
38MP0003806_abnormal_nucleotide_metabolis1.04416862
39MP0003705_abnormal_hypodermis_morpholog0.99853637
40MP0005275_abnormal_skin_tensile0.92421459
41MP0005385_cardiovascular_system_phenoty0.89048741
42MP0001544_abnormal_cardiovascular_syste0.89048741
43MP0006035_abnormal_mitochondrial_morpho0.87952508
44MP0003137_abnormal_impulse_conducting0.81533676
45MP0002234_abnormal_pharynx_morphology0.80762525
46MP0009780_abnormal_chondrocyte_physiolo0.79190556
47MP0000003_abnormal_adipose_tissue0.77584916
48MP0001299_abnormal_eye_distance/0.71459774
49MP0008961_abnormal_basal_metabolism0.67380399
50MP0003879_abnormal_hair_cell0.66284987
51MP0003656_abnormal_erythrocyte_physiolo0.65427075
52MP0005670_abnormal_white_adipose0.63450765
53MP0000372_irregular_coat_pigmentation0.62840245
54MP0004147_increased_porphyrin_level0.60112025
55MP0005334_abnormal_fat_pad0.58769658
56MP0002078_abnormal_glucose_homeostasis0.56788194
57MP0000266_abnormal_heart_morphology0.56276765
58MP0008775_abnormal_heart_ventricle0.55571968
59MP0003045_fibrosis0.54815780
60MP0002127_abnormal_cardiovascular_syste0.52186192
61MP0004043_abnormal_pH_regulation0.49321123
62MP0004510_myositis0.46582183
63MP0008569_lethality_at_weaning0.46395942
64MP0000343_altered_response_to0.46330308
65MP0006138_congestive_heart_failure0.43630376
66MP0002896_abnormal_bone_mineralization0.43344851
67MP0005167_abnormal_blood-brain_barrier0.41889025
68MP0003959_abnormal_lean_body0.41744138
69MP0002796_impaired_skin_barrier0.41676397
70MP0000579_abnormal_nail_morphology0.41207981
71MP0002089_abnormal_postnatal_growth/wei0.40972542
72MP0002638_abnormal_pupillary_reflex0.39573383
73MP0002734_abnormal_mechanical_nocicepti0.38607757
74MP0001346_abnormal_lacrimal_gland0.38363561
75MP0003948_abnormal_gas_homeostasis0.37554825
76MP0009672_abnormal_birth_weight0.37350233
77* MP0005452_abnormal_adipose_tissue0.37335984
78MP0009115_abnormal_fat_cell0.36906995
79* MP0002114_abnormal_axial_skeleton0.34953499
80MP0001243_abnormal_dermal_layer0.33859751
81MP0001849_ear_inflammation0.33709450
82MP0005319_abnormal_enzyme/_coenzyme0.32788440
83MP0003828_pulmonary_edema0.31973867
84MP0005083_abnormal_biliary_tract0.29996852
85MP0005423_abnormal_somatic_nervous0.28703559
86MP0001943_abnormal_respiration0.28370476
87MP0005076_abnormal_cell_differentiation0.27688903
88MP0005503_abnormal_tendon_morphology0.27233377
89MP0004142_abnormal_muscle_tone0.26769166
90MP0005165_increased_susceptibility_to0.26267272
91MP0005451_abnormal_body_composition0.25784086
92MP0004858_abnormal_nervous_system0.25519015
93MP0003567_abnormal_fetal_cardiomyocyte0.25462209
94MP0005187_abnormal_penis_morphology0.25300169
95MP0008438_abnormal_cutaneous_collagen0.24966867
96* MP0009250_abnormal_appendicular_skeleto0.24780207
97MP0000383_abnormal_hair_follicle0.24132879
98MP0008770_decreased_survivor_rate0.24019273
99MP0005332_abnormal_amino_acid0.23997088
100MP0004085_abnormal_heartbeat0.22984356
101MP0005376_homeostasis/metabolism_phenot0.22974287
102MP0002128_abnormal_blood_circulation0.22476980
103MP0003385_abnormal_body_wall0.22185380
104MP0006276_abnormal_autonomic_nervous0.22082563
105MP0001853_heart_inflammation0.20753666
106* MP0002066_abnormal_motor_capabilities/c0.20559882
107MP0010030_abnormal_orbit_morphology0.19841045
108MP0002249_abnormal_larynx_morphology0.19478745
109* MP0000762_abnormal_tongue_morphology0.18936608
110MP0005501_abnormal_skin_physiology0.18424500
111MP0005535_abnormal_body_temperature0.18372816
112MP0000230_abnormal_systemic_arterial0.17700629
113MP0002970_abnormal_white_adipose0.17179811
114MP0005166_decreased_susceptibility_to0.16152623
115* MP0005584_abnormal_enzyme/coenzyme_acti0.15795440
116MP0002118_abnormal_lipid_homeostasis0.15481053
117MP0003941_abnormal_skin_development0.15021593
118MP0005645_abnormal_hypothalamus_physiol0.14135283
119MP0002876_abnormal_thyroid_physiology0.12694992
120MP0005386_behavior/neurological_phenoty0.12181661
121MP0004924_abnormal_behavior0.12181661

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.98297972
2Nemaline bodies (HP:0003798)9.53080835
3Exercise-induced myalgia (HP:0003738)8.28355332
4Type 1 muscle fiber predominance (HP:0003803)7.88007746
5Distal arthrogryposis (HP:0005684)7.73750664
6Exercise-induced muscle cramps (HP:0003710)7.33302606
7Myopathic facies (HP:0002058)6.86901570
8Muscle hypertrophy of the lower extremities (HP:0008968)6.48270690
9Round ear (HP:0100830)6.45536728
10Ulnar deviation of the wrist (HP:0003049)6.33192760
11Calf muscle hypertrophy (HP:0008981)5.85006456
12Calcaneovalgus deformity (HP:0001848)5.50947714
13Difficulty running (HP:0009046)5.31741010
14Muscle fiber splitting (HP:0003555)5.14106205
15Deformed tarsal bones (HP:0008119)5.06320589
16Absent phalangeal crease (HP:0006109)4.98819279
17Hyporeflexia of lower limbs (HP:0002600)4.81999844
18Myoglobinuria (HP:0002913)4.80537828
19EMG: myopathic abnormalities (HP:0003458)4.54505665
20Muscle stiffness (HP:0003552)4.37788646
21Increased connective tissue (HP:0009025)4.28641709
22Abnormal finger flexion creases (HP:0006143)4.17764916
23Rhabdomyolysis (HP:0003201)4.09667548
24Malignant hyperthermia (HP:0002047)4.09564546
25Abnormality of the calf musculature (HP:0001430)4.09367626
26Abnormality of skeletal muscle fiber size (HP:0012084)4.00347178
27Myotonia (HP:0002486)3.89813885
28Neck muscle weakness (HP:0000467)3.63832422
29Increased variability in muscle fiber diameter (HP:0003557)3.48946100
30Difficulty climbing stairs (HP:0003551)3.44825185
31Frequent falls (HP:0002359)3.38885436
32Subaortic stenosis (HP:0001682)3.34943902
33Abnormality of the left ventricular outflow tract (HP:0011103)3.34943902
34Abnormality of the calcaneus (HP:0008364)3.33576835
35Rimmed vacuoles (HP:0003805)3.30839005
36Abnormality of the neuromuscular junction (HP:0003398)3.08833235
37Fatigable weakness (HP:0003473)3.08833235
38Pelvic girdle muscle weakness (HP:0003749)3.08549760
39Shoulder girdle muscle weakness (HP:0003547)3.07230796
40Areflexia of lower limbs (HP:0002522)3.04869045
41Abnormality of the musculature of the pelvis (HP:0001469)2.98260213
42Abnormality of the hip-girdle musculature (HP:0001445)2.98260213
43Fetal akinesia sequence (HP:0001989)2.87857510
44Slender build (HP:0001533)2.84965803
45Bundle branch block (HP:0011710)2.78354415
46Hyperkalemia (HP:0002153)2.76696172
47Asymmetric septal hypertrophy (HP:0001670)2.68363302
48Bulbar palsy (HP:0001283)2.66749899
49EMG: neuropathic changes (HP:0003445)2.59670001
50Sudden death (HP:0001699)2.56284647
51Mildly elevated creatine phosphokinase (HP:0008180)2.55902936
52Weak cry (HP:0001612)2.50211217
53Generalized muscle weakness (HP:0003324)2.47426361
54Distal lower limb muscle weakness (HP:0009053)2.46162188
55Gowers sign (HP:0003391)2.40814500
56Centrally nucleated skeletal muscle fibers (HP:0003687)2.33735567
57Muscular dystrophy (HP:0003560)2.25779900
58Spinal rigidity (HP:0003306)2.25447489
59Proximal amyotrophy (HP:0007126)2.20970868
60Metatarsus adductus (HP:0001840)2.19439137
61Hypoplastic ischia (HP:0003175)2.18616945
62Facial diplegia (HP:0001349)2.18383245
63Nonprogressive disorder (HP:0003680)2.17388637
64Scapular winging (HP:0003691)2.16659084
65Limb-girdle muscle weakness (HP:0003325)2.15728653
66Ulnar deviation of finger (HP:0009465)2.14584821
67Abnormality of the shoulder girdle musculature (HP:0001435)2.08305809
68Distal lower limb amyotrophy (HP:0008944)2.04486783
69Limb-girdle muscle atrophy (HP:0003797)2.03091783
70Progressive muscle weakness (HP:0003323)2.02792123
71Muscle fiber inclusion bodies (HP:0100299)10.3436194
72Hip contracture (HP:0003273)1.99084836
73Type 2 muscle fiber atrophy (HP:0003554)1.96338409
74Abnormality of the foot musculature (HP:0001436)1.93707263
75Abnormality of the ischium (HP:0003174)1.89619369
76Waddling gait (HP:0002515)1.88527361
77Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.87824212
78Foot dorsiflexor weakness (HP:0009027)1.79639430
79Muscle fiber atrophy (HP:0100295)1.78938103
80Heart block (HP:0012722)1.77644571
81Respiratory insufficiency due to muscle weakness (HP:0002747)1.73168605
82Long clavicles (HP:0000890)1.71838334
83Exercise intolerance (HP:0003546)1.71705167
84Achilles tendon contracture (HP:0001771)1.71565547
85Ventricular tachycardia (HP:0004756)1.69990524
86Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.68649054
87Tarsal synostosis (HP:0008368)1.68574478
88Abnormal atrioventricular conduction (HP:0005150)1.67202997
89Ragged-red muscle fibers (HP:0003200)1.61026731
90Popliteal pterygium (HP:0009756)1.60100663
91Abnormality of placental membranes (HP:0011409)1.58627220
92Congenital hip dislocation (HP:0001374)1.56886379
93Easy fatigability (HP:0003388)1.55822041
94Increased density of long bones (HP:0006392)1.55505828
95Abnormality of the Achilles tendon (HP:0005109)1.54723925
96Adducted thumb (HP:0001181)1.53707480
97Short palpebral fissure (HP:0012745)1.51934958
98Synostosis involving bones of the feet (HP:0009140)1.50989774
99Synostosis involving bones of the lower limbs (HP:0009138)1.50989774
100Lower limb amyotrophy (HP:0007210)1.50987099
101Ventricular arrhythmia (HP:0004308)1.44459984
102Cholelithiasis (HP:0001081)1.43969049
103Increased intramyocellular lipid droplets (HP:0012240)1.42547808
104Oligomenorrhea (HP:0000876)1.42163230
105Lipoatrophy (HP:0100578)1.41532731
106Dilated cardiomyopathy (HP:0001644)1.40395563
107Stridor (HP:0010307)1.38854430
108Steppage gait (HP:0003376)1.38396300
109Increased purine levels (HP:0004368)1.34746391
110Hyperuricemia (HP:0002149)1.34746391
111Limited hip movement (HP:0008800)1.34725998
112Amniotic constriction ring (HP:0009775)1.32873735
113Increased muscle lipid content (HP:0009058)1.32331770
114Insulin-resistant diabetes mellitus (HP:0000831)1.21225635

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.92273434
2TTN6.14988267
3PHKG15.32316474
4PHKG25.32316474
5PIK3CG4.23458273
6NME14.16011190
7MAP2K32.83367030
8NEK12.25713456
9MAP3K72.12887906
10PINK12.10520969
11TRIB32.06942010
12MUSK1.90209775
13PDK41.88537626
14PDK31.88537626
15DMPK1.76185830
16MAPK121.62534283
17MAP2K41.46219705
18PIK3CA1.45949689
19BCKDK1.40987778
20MAP2K61.34085841
21PDK21.19809155
22MARK11.02085089
23MAPKAPK30.92629958
24MAP3K30.88895906
25PRKAA20.87260855
26PRKAA10.83490588
27NEK90.82577141
28TAOK20.77084016
29AKT20.72199803
30MAP3K130.70474037
31TRPM70.69450941
32EPHB10.67434342
33MAPK110.66900701
34PKN20.65127831
35ERBB30.61673238
36MAP3K110.61487638
37SIK10.58667980
38ZAK0.57348518
39CAMK40.57305964
40CAMK2G0.57081150
41STK240.56302991
42RIPK10.53402509
43MOS0.50736276
44TAOK10.50145281
45ILK0.47084595
46MAP3K60.45940410
47ICK0.43492660
48MAP3K100.41184764
49EEF2K0.40960147
50PTK60.40133923
51CAMK10.39941592
52CAMK2B0.39253061
53CAMK2A0.38247833
54MAP3K50.35361447
55LIMK10.33626171
56PKN10.33269924
57SGK10.33065433
58SGK20.31143329
59TBK10.29559560
60RPS6KB10.28270390
61PRKACB0.27503090
62MAPK130.27479118
63MAP2K10.26183624
64DYRK1B0.24882783
65ROCK10.24342468
66ERN10.23670386
67MAPK70.21404886
68* RPS6KA30.21017772
69MARK20.21010253
70MAP3K10.19889984
71ARAF0.19703401
72DDR20.19084290
73MAPK40.18921118
74DAPK20.18841644
75CDK190.18831549
76KSR20.17940882
77TYK20.17449153
78PRKD10.16452661
79PRPF4B0.14887838
80MTOR0.14319139
81PDPK10.14051409
82BMX0.13716505
83CAMK1G0.12862605
84PDK10.12749315
85* PRKACA0.12509214
86SGK4940.12431746
87SGK2230.12431746
88LATS20.11762935
89LATS10.11340928
90RPS6KA10.10652580
91MARK30.10586749
92RAF10.10416473
93RPS6KL10.09911987
94RPS6KC10.09911987
95PAK60.09790359
96ZAP700.08950221
97LRRK20.08135730
98ROCK20.07913136
99MAPK100.07661632
100* PRKG10.07202491
101PDGFRA0.06884986
102NLK0.06785247
103RPS6KA60.06728753
104CAMK2D0.05984430
105TIE10.05636895
106TGFBR20.05332566
107CDK60.05329265
108GSK3A0.04862987
109STK110.04419163
110KSR10.04055263
111INSRR0.03880160
112EPHA30.03801187
113BRAF0.03646962
114CSNK1D0.03348493
115MAPK80.03325751
116PRKACG0.02815771
117RPS6KB20.02480046
118MAP3K90.02461176
119GSK3B0.02315866
120FGFR10.02268878
121JAK20.02109681
122SGK30.00481347
123CCNB10.00343553
124FER0.00289187
125MAPKAPK2-0.0226039
126FGFR3-0.0126397
127FLT3-0.0122357
128PTK2B-0.0107752
129MAPK9-0.0092347

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.38582795
2* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.23383526
3* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.59633563
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.48864100
5* Dilated cardiomyopathy_Homo sapiens_hsa054143.40249652
6* Cardiac muscle contraction_Homo sapiens_hsa042603.28356349
7Starch and sucrose metabolism_Homo sapiens_hsa005003.07036210
8Glucagon signaling pathway_Homo sapiens_hsa049222.53056152
9Circadian rhythm_Homo sapiens_hsa047102.47294670
10Insulin signaling pathway_Homo sapiens_hsa049102.45993685
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.38752026
12Propanoate metabolism_Homo sapiens_hsa006402.28027136
13Carbon metabolism_Homo sapiens_hsa012002.21896628
14Insulin resistance_Homo sapiens_hsa049312.20904973
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.15166011
16* Oxytocin signaling pathway_Homo sapiens_hsa049212.12358839
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.89311103
18AMPK signaling pathway_Homo sapiens_hsa041521.84814110
19Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.73746534
20Galactose metabolism_Homo sapiens_hsa000521.72804675
21Viral myocarditis_Homo sapiens_hsa054161.72019369
22Tight junction_Homo sapiens_hsa045301.63200501
23Biosynthesis of amino acids_Homo sapiens_hsa012301.62766347
24* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.60756509
25Fructose and mannose metabolism_Homo sapiens_hsa000511.59421904
26Parkinsons disease_Homo sapiens_hsa050121.58221911
27* Calcium signaling pathway_Homo sapiens_hsa040201.49383477
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.47068206
29Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.45463165
30Pyruvate metabolism_Homo sapiens_hsa006201.39024883
31Fatty acid degradation_Homo sapiens_hsa000711.36490784
32Arginine and proline metabolism_Homo sapiens_hsa003301.29651593
33Focal adhesion_Homo sapiens_hsa045101.25722365
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.24360323
35Oxidative phosphorylation_Homo sapiens_hsa001901.22990214
36Alzheimers disease_Homo sapiens_hsa050101.22610528
37Nitrogen metabolism_Homo sapiens_hsa009101.21962366
38Fatty acid metabolism_Homo sapiens_hsa012121.07484583
39Pentose phosphate pathway_Homo sapiens_hsa000301.04752285
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.02821154
41Central carbon metabolism in cancer_Homo sapiens_hsa052301.01968237
42FoxO signaling pathway_Homo sapiens_hsa040681.01890376
43Gastric acid secretion_Homo sapiens_hsa049711.00853202
44Longevity regulating pathway - mammal_Homo sapiens_hsa042110.99666107
45* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98353208
46mTOR signaling pathway_Homo sapiens_hsa041500.96811587
47Fatty acid biosynthesis_Homo sapiens_hsa000610.95838169
48HIF-1 signaling pathway_Homo sapiens_hsa040660.88905178
49VEGF signaling pathway_Homo sapiens_hsa043700.86295504
50Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.84808833
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79735393
52Arginine biosynthesis_Homo sapiens_hsa002200.76412918
53* Vascular smooth muscle contraction_Homo sapiens_hsa042700.73096019
54* MAPK signaling pathway_Homo sapiens_hsa040100.64365791
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.61386628
56Platelet activation_Homo sapiens_hsa046110.59401584
57Huntingtons disease_Homo sapiens_hsa050160.58892727
58Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57594385
59Proteoglycans in cancer_Homo sapiens_hsa052050.57090865
60Adherens junction_Homo sapiens_hsa045200.56698169
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56689334
62Amoebiasis_Homo sapiens_hsa051460.51848798
63PPAR signaling pathway_Homo sapiens_hsa033200.49290805
64* GnRH signaling pathway_Homo sapiens_hsa049120.47034919
65Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43677679
66Type II diabetes mellitus_Homo sapiens_hsa049300.42414958
67Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.39128845
68beta-Alanine metabolism_Homo sapiens_hsa004100.39089722
69Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.37973403
70Renal cell carcinoma_Homo sapiens_hsa052110.37777001
71Tryptophan metabolism_Homo sapiens_hsa003800.37089672
72Peroxisome_Homo sapiens_hsa041460.35616805
73Regulation of autophagy_Homo sapiens_hsa041400.35491054
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31730628
75Long-term depression_Homo sapiens_hsa047300.30804084
76Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.30165022
77* Renin secretion_Homo sapiens_hsa049240.28793468
78Phenylalanine metabolism_Homo sapiens_hsa003600.28180076
79AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.27747607
80Histidine metabolism_Homo sapiens_hsa003400.26095647
81Purine metabolism_Homo sapiens_hsa002300.22109384
82Amphetamine addiction_Homo sapiens_hsa050310.21896824
83ECM-receptor interaction_Homo sapiens_hsa045120.21587970
84Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.21362300
85Thyroid cancer_Homo sapiens_hsa052160.20220607
86Acute myeloid leukemia_Homo sapiens_hsa052210.19370604
87Butanoate metabolism_Homo sapiens_hsa006500.18723485
88Basal cell carcinoma_Homo sapiens_hsa052170.18494898
89Tyrosine metabolism_Homo sapiens_hsa003500.17835545
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.16356231
91Prolactin signaling pathway_Homo sapiens_hsa049170.15616271
92* Insulin secretion_Homo sapiens_hsa049110.15262476
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.14984115
94Pancreatic secretion_Homo sapiens_hsa049720.14029830
95Olfactory transduction_Homo sapiens_hsa047400.13599333
96Melanogenesis_Homo sapiens_hsa049160.12174281
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.12081964
98Fatty acid elongation_Homo sapiens_hsa000620.11912604
99Chronic myeloid leukemia_Homo sapiens_hsa052200.11581022
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.11496258
101Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.11276560
102Oocyte meiosis_Homo sapiens_hsa041140.11095701
103B cell receptor signaling pathway_Homo sapiens_hsa046620.10580524
104Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.10490463
105Sulfur relay system_Homo sapiens_hsa041220.10445799
106Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.09819343
107Ovarian steroidogenesis_Homo sapiens_hsa049130.08385946
108Bile secretion_Homo sapiens_hsa049760.07813203
109* cAMP signaling pathway_Homo sapiens_hsa040240.07655625
110Toxoplasmosis_Homo sapiens_hsa051450.07449415
111Circadian entrainment_Homo sapiens_hsa047130.07153487
112Long-term potentiation_Homo sapiens_hsa047200.06977070
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.06492376
114Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.06391291
115Thyroid hormone signaling pathway_Homo sapiens_hsa049190.06170484
116Carbohydrate digestion and absorption_Homo sapiens_hsa049730.06151992
117Linoleic acid metabolism_Homo sapiens_hsa005910.05029447
118Glioma_Homo sapiens_hsa052140.04460818
119ABC transporters_Homo sapiens_hsa020100.03913558
120Lysine degradation_Homo sapiens_hsa003100.03380277
121Legionellosis_Homo sapiens_hsa051340.02162890
122Metabolic pathways_Homo sapiens_hsa011000.01939486
123Salivary secretion_Homo sapiens_hsa049700.01788012

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