RYR1

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





Description: This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)9.56051768
2plasma membrane repair (GO:0001778)8.31682465
3actin filament-based movement (GO:0030048)8.27705533
4* sarcoplasmic reticulum calcium ion transport (GO:0070296)8.02881781
5* skeletal muscle fiber development (GO:0048741)7.55058095
6striated muscle contraction (GO:0006941)6.97405643
7response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.65867990
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.60054229
9* myotube cell development (GO:0014904)6.41716619
10skeletal muscle tissue regeneration (GO:0043403)6.38082499
11sarcomere organization (GO:0045214)6.20201135
12response to inactivity (GO:0014854)6.15749917
13striated muscle atrophy (GO:0014891)6.12206339
14glycogen catabolic process (GO:0005980)5.84589145
15creatine metabolic process (GO:0006600)5.76258917
16regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.71665851
17* muscle contraction (GO:0006936)5.69590722
18pyrimidine ribonucleoside catabolic process (GO:0046133)5.69180741
19myofibril assembly (GO:0030239)5.61420544
20regulation of cell communication by electrical coupling (GO:0010649)5.57721595
21response to muscle activity (GO:0014850)5.57215490
22glucan catabolic process (GO:0009251)5.45664603
23muscle atrophy (GO:0014889)5.39553602
24cytidine metabolic process (GO:0046087)5.38189149
25cytidine catabolic process (GO:0006216)5.38189149
26cytidine deamination (GO:0009972)5.38189149
27regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.36157123
28striated muscle adaptation (GO:0014888)5.23158634
29negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.15869981
30carnitine shuttle (GO:0006853)5.14079259
31cellular polysaccharide catabolic process (GO:0044247)5.10541890
32* muscle system process (GO:0003012)5.06543155
33purine nucleotide salvage (GO:0032261)5.04610806
34polysaccharide catabolic process (GO:0000272)4.91357043
35cardiac muscle hypertrophy (GO:0003300)4.76976344
36regulation of actin filament-based movement (GO:1903115)4.72273164
37glycogen biosynthetic process (GO:0005978)4.58411909
38glucan biosynthetic process (GO:0009250)4.58411909
39myoblast fusion (GO:0007520)4.56164569
40actomyosin structure organization (GO:0031032)4.55525552
41striated muscle hypertrophy (GO:0014897)4.54177523
42* muscle fiber development (GO:0048747)4.53151499
43neuromuscular synaptic transmission (GO:0007274)4.48956738
44neuronal action potential propagation (GO:0019227)4.42898261
45regulation of skeletal muscle cell differentiation (GO:2001014)4.42486303
46positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.41332632
47NADH metabolic process (GO:0006734)4.35038701
48regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.34974671
49muscle organ development (GO:0007517)4.30102437
50IMP metabolic process (GO:0046040)4.27055603
51fatty acid transmembrane transport (GO:1902001)4.26929428
52muscle cell cellular homeostasis (GO:0046716)4.26926559
53muscle adaptation (GO:0043500)4.24755008
54muscle structure development (GO:0061061)4.22988066
55regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.11459192
56myotube differentiation (GO:0014902)4.10664786
57muscle hypertrophy (GO:0014896)4.09112278
58syncytium formation by plasma membrane fusion (GO:0000768)4.08328499
59positive regulation of myotube differentiation (GO:0010831)4.07193513
60skeletal muscle tissue development (GO:0007519)4.03613528
61regulation of acyl-CoA biosynthetic process (GO:0050812)3.99798996
62syncytium formation (GO:0006949)3.99792101
63glycogen metabolic process (GO:0005977)3.98296277
64negative regulation of muscle hypertrophy (GO:0014741)3.95961849
65fructose metabolic process (GO:0006000)3.93375646
66negative regulation of potassium ion transmembrane transport (GO:1901380)3.92123978
67negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.90614958
68cellular glucan metabolic process (GO:0006073)3.89806557
69glucan metabolic process (GO:0044042)3.89806557
70cardiac muscle contraction (GO:0060048)3.87188075
71muscle tissue morphogenesis (GO:0060415)3.76205405
72response to activity (GO:0014823)3.76052682
73carnitine transmembrane transport (GO:1902603)3.74709784
74muscle cell fate commitment (GO:0042693)3.73577013
75regulation of calcium ion transmembrane transport (GO:1903169)3.73375175
76regulation of calcium ion transmembrane transporter activity (GO:1901019)3.73375175
77regulation of relaxation of muscle (GO:1901077)3.70078139
78muscle organ morphogenesis (GO:0048644)3.70057728
79negative regulation of skeletal muscle tissue development (GO:0048642)3.65793067
802-oxoglutarate metabolic process (GO:0006103)3.63233374
81regulation of coenzyme metabolic process (GO:0051196)3.58391316
82regulation of cofactor metabolic process (GO:0051193)3.58391316
83adult heart development (GO:0007512)3.57495419
84cardiac muscle adaptation (GO:0014887)3.57222548
85cardiac muscle hypertrophy in response to stress (GO:0014898)3.57222548
86muscle hypertrophy in response to stress (GO:0003299)3.57222548
87regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.57084519
88regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.53203202
89neuromuscular junction development (GO:0007528)3.52556980
90positive regulation of myoblast differentiation (GO:0045663)3.50562031
91regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.48292237
92striated muscle tissue development (GO:0014706)3.47112597
93cardiac muscle tissue morphogenesis (GO:0055008)3.46689137
94gluconeogenesis (GO:0006094)3.46614235
95negative regulation of muscle contraction (GO:0045932)3.44534707
96cardiac muscle cell development (GO:0055013)3.42439311
97* striated muscle cell development (GO:0055002)3.38326875
98negative regulation of calcium ion transmembrane transport (GO:1903170)3.38176376
99negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.38176376
100amino-acid betaine transport (GO:0015838)3.38016310
101carnitine transport (GO:0015879)3.38016310
102regulation of striated muscle contraction (GO:0006942)3.36650728
103regulation of sarcomere organization (GO:0060297)3.34873033
104regulation of myoblast differentiation (GO:0045661)3.31645687
105positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.29697439
106regulation of myotube differentiation (GO:0010830)3.24844441
107regulation of muscle system process (GO:0090257)3.24237981
108cellular response to dexamethasone stimulus (GO:0071549)3.22649336
109positive regulation of cation channel activity (GO:2001259)3.22346201
110relaxation of muscle (GO:0090075)3.20472725
111cardiac cell development (GO:0055006)3.19469356
112regulation of membrane repolarization (GO:0060306)3.18728736
113IMP biosynthetic process (GO:0006188)3.17926141
114negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.15992017
115cellular carbohydrate catabolic process (GO:0044275)3.15004914
116membrane depolarization during action potential (GO:0086010)3.13365639
117regulation of skeletal muscle fiber development (GO:0048742)3.11042976
118membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.08704971
119cardiac myofibril assembly (GO:0055003)3.03132131
120response to dexamethasone (GO:0071548)2.96402604
121regulation of sulfur metabolic process (GO:0042762)2.94136625
122negative regulation of cAMP-mediated signaling (GO:0043951)2.93901626
123skeletal muscle cell differentiation (GO:0035914)2.93580600
124calcium ion import (GO:0070509)2.90719651
125muscle filament sliding (GO:0030049)13.3821453
126actin-myosin filament sliding (GO:0033275)13.3821453
127regulation of skeletal muscle contraction (GO:0014819)12.3263618
128skeletal muscle contraction (GO:0003009)12.0033107
129actin-mediated cell contraction (GO:0070252)10.9535085

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.60452044
2EZH2_22144423_ChIP-Seq_EOC_Human4.10231273
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.61287011
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.09714932
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.07303783
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.51535463
7AR_21572438_ChIP-Seq_LNCaP_Human2.14138083
8* PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.09063325
9DROSHA_22980978_ChIP-Seq_HELA_Human2.08926374
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07769056
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.07733319
12ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.04725853
13TBX20_22080862_ChIP-Seq_HEART_Mouse2.02198021
14TBX20_22328084_ChIP-Seq_HEART_Mouse2.02198021
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.94911474
16CTCF_27219007_Chip-Seq_Bcells_Human1.83700627
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.81256370
18RARB_27405468_Chip-Seq_BRAIN_Mouse1.75042479
19RARG_19884340_ChIP-ChIP_MEFs_Mouse1.74805239
20ZNF274_21170338_ChIP-Seq_K562_Hela1.72632391
21EZH2_27294783_Chip-Seq_ESCs_Mouse1.71366858
22ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.63597269
23ZNF263_19887448_ChIP-Seq_K562_Human1.62417104
24ESR1_21235772_ChIP-Seq_MCF-7_Human1.59643969
25NFIB_24661679_ChIP-Seq_LUNG_Mouse1.59507290
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.55065227
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.53266649
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.53266649
29NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.49401944
30MTF2_20144788_ChIP-Seq_MESCs_Mouse1.48922064
31EZH2_27304074_Chip-Seq_ESCs_Mouse1.44990500
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.44800545
33TP63_17297297_ChIP-ChIP_HaCaT_Human1.44160232
34SUZ12_27294783_Chip-Seq_ESCs_Mouse1.43780783
35PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.41283530
36CTCF_21964334_ChIP-Seq_BJAB-B_Human1.40500440
37* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39485490
38BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.38660391
39EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.38460975
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.38074929
41CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.37282153
42SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.37260517
43MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.36799935
44GATA4_21415370_ChIP-Seq_HL-1_Mouse1.36179480
45JARID2_20075857_ChIP-Seq_MESCs_Mouse1.35427998
46SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.34581716
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.33680477
48SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.33565613
49SA1_27219007_Chip-Seq_Bcells_Human1.30474383
50EP300_21415370_ChIP-Seq_HL-1_Mouse1.27963676
51CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.22914491
52* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22214552
53P63_26484246_Chip-Seq_KERATINOCYTES_Human1.20985667
54TP53_20018659_ChIP-ChIP_R1E_Mouse1.20041891
55WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16835942
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16396879
57FOXH1_21741376_ChIP-Seq_ESCs_Human1.16395060
58* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.16336887
59GBX2_23144817_ChIP-Seq_PC3_Human1.16157470
60KDM2B_26808549_Chip-Seq_DND41_Human1.15736409
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.14563274
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13990944
63OCT4_20526341_ChIP-Seq_ESCs_Human1.11206497
64ERG_21242973_ChIP-ChIP_JURKAT_Human1.09993303
65KDM2B_26808549_Chip-Seq_K562_Human1.09679045
66EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.08103989
67SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06884010
68* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05735894
69RNF2_27304074_Chip-Seq_ESCs_Mouse1.04440890
70LXR_22292898_ChIP-Seq_THP-1_Human1.04094044
71SOX2_21211035_ChIP-Seq_LN229_Gbm1.03792681
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03341401
73UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.02544497
74NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02017062
75STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01886890
76IGF1R_20145208_ChIP-Seq_DFB_Human1.01852214
77SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.00849126
78SMC1_22415368_ChIP-Seq_MEFs_Mouse1.00068078
79TDRD3_21172665_ChIP-Seq_MCF-7_Human0.99958613
80ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.99394813
81KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98853801
82MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98600884
83CRX_20693478_ChIP-Seq_RETINA_Mouse0.97736353
84SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.97610645
85MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.97603348
86CTCF_27219007_Chip-Seq_ERYTHROID_Human0.96955838
87SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96775967
88* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96291184
89CREB1_26743006_Chip-Seq_LNCaP_Human0.95984599
90STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.94926895
91MYC_27129775_Chip-Seq_CORNEA_Mouse0.94706341
92LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93242227
93RACK7_27058665_Chip-Seq_MCF-7_Human0.93207938
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93164545
95SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.92093750
96RXR_22108803_ChIP-Seq_LS180_Human0.91477338
97* GATA1_19941827_ChIP-Seq_MEL_Mouse0.91158148
98RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90914337
99CTCF_21964334_Chip-Seq_Bcells_Human0.90618788
100SPI1_20517297_ChIP-Seq_HL60_Human0.90562160
101OCT1_27270436_Chip-Seq_PROSTATE_Human0.90435521
102YY1_22570637_ChIP-Seq_MALME-3M_Human0.89929240
103OCT4_21477851_ChIP-Seq_ESCs_Mouse0.89832652
104* KLF4_19829295_ChIP-Seq_ESCs_Human0.89211396
105NR3C1_23031785_ChIP-Seq_PC12_Mouse0.89161958
106* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88792508
107* CBP_20019798_ChIP-Seq_JUKART_Human0.88792508
108STAT1_20625510_ChIP-Seq_HELA_Human0.88729029
109ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88029379
110GATA6_21074721_ChIP-Seq_CACO-2_Human0.87857660
111EZH2_27294783_Chip-Seq_NPCs_Mouse0.85574119
112* TP63_22573176_ChIP-Seq_HFKS_Human0.84781841
113P68_20966046_ChIP-Seq_HELA_Human0.84627050
114E2F1_20622854_ChIP-Seq_HELA_Human0.84220823
115CBX2_27304074_Chip-Seq_ESCs_Mouse0.84115488
116GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.82547705
117PCGF2_27294783_Chip-Seq_ESCs_Mouse0.82028313
118CTBP1_25329375_ChIP-Seq_LNCAP_Human0.81892398
119SMAD4_21741376_ChIP-Seq_EPCs_Human0.81769973
120RAC3_21632823_ChIP-Seq_H3396_Human0.81747424
121CJUN_26792858_Chip-Seq_BT549_Human0.81717712
122SMAD3_21741376_ChIP-Seq_HESCs_Human0.81660898
123CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80953678
124P53_22127205_ChIP-Seq_FIBROBLAST_Human0.80838123
125* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.80366704
126HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.79881914
127P300_27058665_Chip-Seq_ZR-75-30cells_Human0.79846691
128MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.79736390
129* AR_19668381_ChIP-Seq_PC3_Human0.79727307
130PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.79552504
131* PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.78926381
132TCF7_22412390_ChIP-Seq_EML_Mouse0.77920600
133NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.77471647
134NRF2_20460467_ChIP-Seq_MEFs_Mouse0.77471647
135NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.76901508
136PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.76748188
137DPY_21335234_ChIP-Seq_ESCs_Mouse0.76626032
138GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.74406899
139LXR_22158963_ChIP-Seq_LIVER_Mouse0.74137866
140TP53_23651856_ChIP-Seq_MEFs_Mouse0.71943184
141TRIM28_21343339_ChIP-Seq_HEK293_Human0.71692391
142GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.71631103

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.05390379
2MP0000751_myopathy6.18152105
3MP0003646_muscle_fatigue6.11485506
4* MP0000749_muscle_degeneration5.94058507
5MP0000747_muscle_weakness4.81269794
6* MP0002106_abnormal_muscle_physiology4.22706679
7* MP0000759_abnormal_skeletal_muscle3.92896622
8MP0004036_abnormal_muscle_relaxation3.84983847
9MP0002269_muscular_atrophy3.63460929
10* MP0005369_muscle_phenotype3.55389885
11MP0000750_abnormal_muscle_regeneration3.48491955
12* MP0004087_abnormal_muscle_fiber3.45276832
13MP0002837_dystrophic_cardiac_calcinosis3.37510369
14MP0004130_abnormal_muscle_cell3.08734851
15* MP0005620_abnormal_muscle_contractility2.98887643
16MP0004233_abnormal_muscle_weight2.69501458
17* MP0000733_abnormal_muscle_development2.32147783
18MP0002108_abnormal_muscle_morphology2.23454730
19MP0002332_abnormal_exercise_endurance2.20060334
20MP0005330_cardiomyopathy1.84463651
21MP0004185_abnormal_adipocyte_glucose1.71098150
22MP0006036_abnormal_mitochondrial_physio1.58464245
23MP0004084_abnormal_cardiac_muscle1.55374869
24MP0005275_abnormal_skin_tensile1.38255348
25MP0004215_abnormal_myocardial_fiber1.37558015
26MP0001661_extended_life_span1.36281687
27MP0005666_abnormal_adipose_tissue1.34711409
28MP0004484_altered_response_of1.31528747
29MP0000013_abnormal_adipose_tissue1.29317120
30MP0002972_abnormal_cardiac_muscle1.24381735
31MP0004859_abnormal_synaptic_plasticity1.16438335
32MP0010630_abnormal_cardiac_muscle1.13718916
33* MP0002971_abnormal_brown_adipose1.08049306
34MP0005375_adipose_tissue_phenotype1.07846942
35MP0003950_abnormal_plasma_membrane1.06881609
36MP0002234_abnormal_pharynx_morphology0.99743359
37MP0005266_abnormal_metabolism0.95241677
38MP0003705_abnormal_hypodermis_morpholog0.94119148
39MP0002822_catalepsy0.92580428
40MP0001299_abnormal_eye_distance/0.89701117
41MP0004134_abnormal_chest_morphology0.86477005
42MP0003221_abnormal_cardiomyocyte_apopto0.85207168
43MP0008569_lethality_at_weaning0.85075444
44MP0000762_abnormal_tongue_morphology0.81884941
45MP0003137_abnormal_impulse_conducting0.81592968
46MP0006035_abnormal_mitochondrial_morpho0.80675927
47MP0001544_abnormal_cardiovascular_syste0.77338617
48MP0005385_cardiovascular_system_phenoty0.77338617
49MP0008961_abnormal_basal_metabolism0.74580242
50MP0002796_impaired_skin_barrier0.73478482
51MP0003828_pulmonary_edema0.70096429
52MP0009250_abnormal_appendicular_skeleto0.69440097
53MP0000003_abnormal_adipose_tissue0.68810618
54MP0000372_irregular_coat_pigmentation0.68493343
55MP0000579_abnormal_nail_morphology0.61090851
56* MP0004270_analgesia0.61012728
57MP0004043_abnormal_pH_regulation0.60053494
58MP0003045_fibrosis0.58170030
59MP0004147_increased_porphyrin_level0.58159533
60MP0005670_abnormal_white_adipose0.55753480
61MP0003806_abnormal_nucleotide_metabolis0.53435005
62MP0003656_abnormal_erythrocyte_physiolo0.53194827
63MP0002078_abnormal_glucose_homeostasis0.52853186
64MP0005167_abnormal_blood-brain_barrier0.52525908
65MP0005334_abnormal_fat_pad0.51949747
66MP0002127_abnormal_cardiovascular_syste0.51352726
67MP0005423_abnormal_somatic_nervous0.50814671
68MP0002089_abnormal_postnatal_growth/wei0.47393409
69MP0004142_abnormal_muscle_tone0.46819680
70MP0002638_abnormal_pupillary_reflex0.44134794
71MP0001440_abnormal_grooming_behavior0.44123465
72MP0005503_abnormal_tendon_morphology0.43822609
73MP0003635_abnormal_synaptic_transmissio0.43739525
74* MP0000266_abnormal_heart_morphology0.43026189
75MP0010030_abnormal_orbit_morphology0.42203566
76MP0002896_abnormal_bone_mineralization0.42129209
77MP0004510_myositis0.42115235
78* MP0005452_abnormal_adipose_tissue0.39872692
79* MP0002114_abnormal_axial_skeleton0.39742008
80MP0001849_ear_inflammation0.39394151
81MP0000383_abnormal_hair_follicle0.38788141
82MP0002128_abnormal_blood_circulation0.38176415
83MP0008775_abnormal_heart_ventricle0.37452275
84MP0006138_congestive_heart_failure0.35840717
85MP0003959_abnormal_lean_body0.35653863
86MP0005501_abnormal_skin_physiology0.35346752
87MP0001346_abnormal_lacrimal_gland0.35297428
88* MP0002066_abnormal_motor_capabilities/c0.34970985
89MP0006276_abnormal_autonomic_nervous0.34423907
90MP0008438_abnormal_cutaneous_collagen0.33963790
91MP0004085_abnormal_heartbeat0.33655044
92MP0005584_abnormal_enzyme/coenzyme_acti0.33067771
93MP0005083_abnormal_biliary_tract0.33018912
94MP0005376_homeostasis/metabolism_phenot0.31179957
95MP0008770_decreased_survivor_rate0.31094278
96MP0000343_altered_response_to0.30839597
97MP0009780_abnormal_chondrocyte_physiolo0.30712946
98MP0003879_abnormal_hair_cell0.30195577
99MP0000427_abnormal_hair_cycle0.28145568
100MP0002067_abnormal_sensory_capabilities0.27648095
101MP0009115_abnormal_fat_cell0.27297681
102MP0000230_abnormal_systemic_arterial0.26619586
103* MP0003948_abnormal_gas_homeostasis0.26366586
104MP0005165_increased_susceptibility_to0.25972627
105* MP0001943_abnormal_respiration0.25767722
106MP0002249_abnormal_larynx_morphology0.24518960
107MP0004858_abnormal_nervous_system0.24467906
108MP0005166_decreased_susceptibility_to0.23722825
109MP0010678_abnormal_skin_adnexa0.23229132
110MP0005319_abnormal_enzyme/_coenzyme0.21963378
111MP0002909_abnormal_adrenal_gland0.21581701
112MP0005451_abnormal_body_composition0.20563691
113MP0009046_muscle_twitch0.20449985
114MP0002063_abnormal_learning/memory/cond0.20186276
115MP0002060_abnormal_skin_morphology0.19739158
116MP0002184_abnormal_innervation0.19489071
117MP0005187_abnormal_penis_morphology0.16427803
118* MP0002734_abnormal_mechanical_nocicepti0.16189320
119MP0005332_abnormal_amino_acid0.15248620
120* MP0009672_abnormal_birth_weight0.12630585
121MP0005595_abnormal_vascular_smooth0.12565769

Predicted human phenotypes

RankGene SetZ-score
1* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.68937671
2* Nemaline bodies (HP:0003798)8.84241678
3Distal arthrogryposis (HP:0005684)8.30647028
4Exercise-induced muscle cramps (HP:0003710)7.44589598
5* Type 1 muscle fiber predominance (HP:0003803)7.11835889
6* Exercise-induced myalgia (HP:0003738)7.00024078
7Round ear (HP:0100830)6.93226452
8Ulnar deviation of the wrist (HP:0003049)6.68288152
9Muscle hypertrophy of the lower extremities (HP:0008968)6.59731251
10* Myopathic facies (HP:0002058)6.03942734
11Calf muscle hypertrophy (HP:0008981)5.96819109
12Calcaneovalgus deformity (HP:0001848)5.82646196
13Muscle fiber splitting (HP:0003555)5.41430819
14Deformed tarsal bones (HP:0008119)5.39275457
15Absent phalangeal crease (HP:0006109)5.30837051
16Hyporeflexia of lower limbs (HP:0002600)4.93415255
17EMG: myopathic abnormalities (HP:0003458)4.73371720
18Abnormal finger flexion creases (HP:0006143)4.45406678
19Muscle stiffness (HP:0003552)4.41935858
20Abnormality of the calf musculature (HP:0001430)4.27156849
21Myotonia (HP:0002486)4.06966058
22* Difficulty running (HP:0009046)4.05801481
23Neck muscle weakness (HP:0000467)3.91883617
24* Myoglobinuria (HP:0002913)3.79493335
25Difficulty climbing stairs (HP:0003551)3.69445031
26Frequent falls (HP:0002359)3.60986067
27Abnormality of the calcaneus (HP:0008364)3.50234558
28* Malignant hyperthermia (HP:0002047)3.48243402
29Rimmed vacuoles (HP:0003805)3.44382945
30Fetal akinesia sequence (HP:0001989)3.40479788
31Abnormality of the left ventricular outflow tract (HP:0011103)3.39296370
32Subaortic stenosis (HP:0001682)3.39296370
33* Abnormality of skeletal muscle fiber size (HP:0012084)3.34448193
34Abnormality of the neuromuscular junction (HP:0003398)3.30646420
35Fatigable weakness (HP:0003473)3.30646420
36Shoulder girdle muscle weakness (HP:0003547)3.30211751
37Pelvic girdle muscle weakness (HP:0003749)3.28032195
38Slender build (HP:0001533)3.20364387
39Abnormality of the musculature of the pelvis (HP:0001469)3.17131861
40Abnormality of the hip-girdle musculature (HP:0001445)3.17131861
41Areflexia of lower limbs (HP:0002522)3.15221515
42* Rhabdomyolysis (HP:0003201)2.94480580
43Mildly elevated creatine phosphokinase (HP:0008180)2.88774397
44Bundle branch block (HP:0011710)2.84112659
45Bulbar palsy (HP:0001283)2.83783343
46EMG: neuropathic changes (HP:0003445)2.78479678
47* Increased connective tissue (HP:0009025)2.68396374
48Weak cry (HP:0001612)2.62595055
49* Increased variability in muscle fiber diameter (HP:0003557)2.62176098
50Asymmetric septal hypertrophy (HP:0001670)2.62149420
51Sudden death (HP:0001699)2.61014211
52Gowers sign (HP:0003391)2.55710780
53Distal lower limb muscle weakness (HP:0009053)2.54266666
54Centrally nucleated skeletal muscle fibers (HP:0003687)2.50887909
55Spinal rigidity (HP:0003306)2.46858515
56Distal lower limb amyotrophy (HP:0008944)2.46452843
57Paralysis (HP:0003470)2.44268884
58Metatarsus adductus (HP:0001840)2.43864000
59Proximal amyotrophy (HP:0007126)2.40635331
60Ulnar deviation of finger (HP:0009465)2.38377132
61Scapular winging (HP:0003691)2.37395957
62Facial diplegia (HP:0001349)2.32773177
63Dilated cardiomyopathy (HP:0001644)2.32601744
64Hip contracture (HP:0003273)2.26391478
65Abnormality of the shoulder girdle musculature (HP:0001435)2.26214600
66Limb-girdle muscle weakness (HP:0003325)2.24925833
67Hypoplastic ischia (HP:0003175)2.21870652
68Lipoatrophy (HP:0100578)2.09620635
69Limb-girdle muscle atrophy (HP:0003797)2.08884683
70Type 2 muscle fiber atrophy (HP:0003554)2.07788205
71Waddling gait (HP:0002515)2.07500285
72* Generalized muscle weakness (HP:0003324)2.01824174
73* Muscle fiber inclusion bodies (HP:0100299)10.1879625
74Progressive muscle weakness (HP:0003323)1.99911714
75Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.94681982
76Abnormality of the ischium (HP:0003174)1.92241534
77Lower limb amyotrophy (HP:0007210)1.91536513
78Achilles tendon contracture (HP:0001771)1.89258763
79Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.87729844
80Tarsal synostosis (HP:0008368)1.86791321
81Respiratory insufficiency due to muscle weakness (HP:0002747)1.85860590
82Long clavicles (HP:0000890)1.85323930
83Muscle fiber atrophy (HP:0100295)1.85056972
84* Muscular dystrophy (HP:0003560)1.83911470
85Popliteal pterygium (HP:0009756)1.83245302
86Heart block (HP:0012722)1.82097401
87* Hyperkalemia (HP:0002153)1.76560052
88Abnormal atrioventricular conduction (HP:0005150)1.71226434
89Synostosis involving bones of the feet (HP:0009140)1.69403519
90Synostosis involving bones of the lower limbs (HP:0009138)1.69403519
91Abnormality of the Achilles tendon (HP:0005109)1.69087117
92Adducted thumb (HP:0001181)1.67563937
93Easy fatigability (HP:0003388)1.59584580
94Limited hip movement (HP:0008800)1.57376689
95Short palpebral fissure (HP:0012745)1.56150327
96Increased density of long bones (HP:0006392)1.55267289
97Exercise intolerance (HP:0003546)1.53492136
98Aplasia of the musculature (HP:0100854)1.52839319
99Ventricular tachycardia (HP:0004756)1.49378079
100Oligomenorrhea (HP:0000876)1.47621545
101Ragged-red muscle fibers (HP:0003200)1.47517541
102Ventricular arrhythmia (HP:0004308)1.47019830
103Amniotic constriction ring (HP:0009775)1.46391661
104Abnormality of placental membranes (HP:0011409)1.46391661
105Steppage gait (HP:0003376)1.44922547
106Foot dorsiflexor weakness (HP:0009027)1.44808948
107Breech presentation (HP:0001623)1.43852222
108Cholelithiasis (HP:0001081)1.41085715
109Toxemia of pregnancy (HP:0100603)1.38976207
110Webbed neck (HP:0000465)1.38495572
111Abnormality of the foot musculature (HP:0001436)1.36758195
112Diaphragmatic weakness (HP:0009113)1.34744891

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.04372579
2TTN5.85976767
3PHKG15.14480365
4PHKG25.14480365
5PIK3CG4.36782409
6NME14.26792550
7MAP2K32.58836494
8MAP3K72.21839177
9NEK12.13690023
10PINK12.06248490
11TRIB31.95078539
12MUSK1.93643568
13DMPK1.70556175
14MAP2K41.66479407
15PDK41.66256292
16PDK31.66256292
17MAPK121.59570876
18PIK3CA1.34211704
19MAP2K61.31175944
20MARK11.18100413
21CCNB11.15017552
22TAOK21.10294548
23PDK21.08834284
24BCKDK0.97690622
25NTRK30.92253054
26PRKAA20.83762446
27MAPKAPK30.81676751
28MAP3K130.77736581
29PRKAA10.74850467
30MAP3K30.71775540
31RIPK10.69623788
32ZAK0.69618490
33AKT20.68811761
34MOS0.68803551
35TAOK10.67052747
36CAMK40.63407955
37ERBB30.61991082
38PKN20.58114069
39EPHB10.57532308
40MAPK110.56517153
41TRPM70.55367920
42SIK10.54430632
43EPHA40.51794312
44NEK90.51094161
45SGK10.49151195
46CAMK10.47893250
47TIE10.45601114
48* CAMK2G0.45257053
49KSR20.43467024
50MAP3K60.42110997
51SGK20.42109278
52MAP3K110.41835804
53MAP2K10.39021022
54STK240.34454042
55MAP3K50.32330961
56RPS6KB10.32266569
57ILK0.31653763
58PAK60.31134340
59PRKACB0.30218149
60* RPS6KA30.28877583
61MAP3K40.27324939
62PTK60.27149385
63PRPF4B0.26746298
64MAPK70.25874640
65MAP3K10.25869300
66EEF2K0.25614879
67KSR10.25181258
68DAPK20.24557870
69LIMK10.23773769
70PKN10.23495602
71PDPK10.23392324
72SGK2230.22667313
73SGK4940.22667313
74FER0.21855561
75ROCK10.21515878
76TBK10.21056204
77TNIK0.20886962
78BMX0.20812211
79TGFBR20.20611561
80CDK190.20135421
81DDR20.20011051
82MARK20.19895711
83PDK10.19268341
84ICK0.18323753
85MAP3K90.17823085
86* PRKACA0.17784801
87RPS6KB20.17732091
88EPHA30.17725134
89ARAF0.17160102
90SGK30.16728091
91STK110.15933396
92CAMK1G0.15916243
93LATS20.15450356
94* PRKG10.14926962
95FGFR10.14763136
96LATS10.13476139
97NLK0.13345744
98MAPK100.13292764
99PTK2B0.13072039
100CAMK2A0.12668797
101STK380.12565605
102MAPK40.12060184
103PRKD10.11770659
104MAP3K100.10640586
105CAMK2D0.10282705
106FGFR30.10068536
107MAPK80.10057026
108PRKD30.09685131
109RAF10.09549547
110CDK50.09073568
111MAPK130.08785420
112RPS6KC10.08430762
113RPS6KL10.08430762
114MARK30.08320607
115ROCK20.08012728
116ZAP700.07548470
117INSRR0.06909953
118GSK3B0.05993401
119CDC42BPA0.05875903
120DYRK1B0.05817799
121MTOR0.05761571
122PRKCH0.05719303
123RPS6KA10.05500028
124RPS6KA20.05124673
125RPS6KA60.04739018
126CSNK1D0.04738174
127CAMK2B0.04697182
128TNK20.04334067
129PRKACG0.03888657

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.36069376
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.01395939
3Dilated cardiomyopathy_Homo sapiens_hsa054143.70844913
4Cardiac muscle contraction_Homo sapiens_hsa042603.52878666
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.35152311
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.66149934
7* Oxytocin signaling pathway_Homo sapiens_hsa049212.48726930
8Starch and sucrose metabolism_Homo sapiens_hsa005002.47872972
9Circadian rhythm_Homo sapiens_hsa047102.44245082
10Glucagon signaling pathway_Homo sapiens_hsa049222.30240513
11Insulin signaling pathway_Homo sapiens_hsa049102.21124385
12Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.16836492
13* Calcium signaling pathway_Homo sapiens_hsa040201.98623009
14Insulin resistance_Homo sapiens_hsa049311.90558981
15Adipocytokine signaling pathway_Homo sapiens_hsa049201.64800056
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.63617881
17Carbon metabolism_Homo sapiens_hsa012001.58204997
18Tight junction_Homo sapiens_hsa045301.56230849
19AMPK signaling pathway_Homo sapiens_hsa041521.56173361
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.53029279
21Propanoate metabolism_Homo sapiens_hsa006401.52051736
22GnRH signaling pathway_Homo sapiens_hsa049121.46975786
23cGMP-PKG signaling pathway_Homo sapiens_hsa040221.46469420
24Gastric acid secretion_Homo sapiens_hsa049711.44174725
25Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.40761953
26Vascular smooth muscle contraction_Homo sapiens_hsa042701.40707984
27Galactose metabolism_Homo sapiens_hsa000521.31703740
28Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.28278868
29Alzheimers disease_Homo sapiens_hsa050101.23967907
30Fructose and mannose metabolism_Homo sapiens_hsa000511.21049360
31Renin secretion_Homo sapiens_hsa049241.18594075
32Viral myocarditis_Homo sapiens_hsa054161.17266485
33Focal adhesion_Homo sapiens_hsa045101.14808061
34Nitrogen metabolism_Homo sapiens_hsa009101.12457447
35Biosynthesis of amino acids_Homo sapiens_hsa012301.07970161
36Insulin secretion_Homo sapiens_hsa049111.05127920
37Long-term potentiation_Homo sapiens_hsa047201.02245492
38Parkinsons disease_Homo sapiens_hsa050121.00426579
39MAPK signaling pathway_Homo sapiens_hsa040100.97254558
40Longevity regulating pathway - mammal_Homo sapiens_hsa042110.95299319
41Aldosterone synthesis and secretion_Homo sapiens_hsa049250.95218988
42FoxO signaling pathway_Homo sapiens_hsa040680.93532957
43VEGF signaling pathway_Homo sapiens_hsa043700.89972677
44Central carbon metabolism in cancer_Homo sapiens_hsa052300.88666477
45Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.88548873
46mTOR signaling pathway_Homo sapiens_hsa041500.88212195
47Cholinergic synapse_Homo sapiens_hsa047250.87487565
48Olfactory transduction_Homo sapiens_hsa047400.86966217
49Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.86283518
50Arginine and proline metabolism_Homo sapiens_hsa003300.84928317
51Type II diabetes mellitus_Homo sapiens_hsa049300.82871216
52Pyruvate metabolism_Homo sapiens_hsa006200.81539183
53Salivary secretion_Homo sapiens_hsa049700.77681531
54HIF-1 signaling pathway_Homo sapiens_hsa040660.76443098
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.75477524
56GABAergic synapse_Homo sapiens_hsa047270.75264474
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74451632
58Fatty acid biosynthesis_Homo sapiens_hsa000610.69655242
59* Circadian entrainment_Homo sapiens_hsa047130.67686278
60Regulation of actin cytoskeleton_Homo sapiens_hsa048100.65219242
61Oxidative phosphorylation_Homo sapiens_hsa001900.64704908
62Platelet activation_Homo sapiens_hsa046110.63988760
63Fatty acid degradation_Homo sapiens_hsa000710.63859236
64Pentose phosphate pathway_Homo sapiens_hsa000300.62580393
65Phenylalanine metabolism_Homo sapiens_hsa003600.61815018
66Adherens junction_Homo sapiens_hsa045200.59915625
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.58054040
68Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56138635
69Proteoglycans in cancer_Homo sapiens_hsa052050.55816577
70Dopaminergic synapse_Homo sapiens_hsa047280.55772007
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55024468
72Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.54422080
73Amphetamine addiction_Homo sapiens_hsa050310.52730412
74Amoebiasis_Homo sapiens_hsa051460.52321887
75Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.50152970
76cAMP signaling pathway_Homo sapiens_hsa040240.49888611
77Glutamatergic synapse_Homo sapiens_hsa047240.49782954
78Arginine biosynthesis_Homo sapiens_hsa002200.48791956
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47751416
80Fatty acid metabolism_Homo sapiens_hsa012120.47353678
81Leukocyte transendothelial migration_Homo sapiens_hsa046700.46680053
82Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46260993
83Melanogenesis_Homo sapiens_hsa049160.44472300
84Pancreatic secretion_Homo sapiens_hsa049720.43773705
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41852753
86Phosphatidylinositol signaling system_Homo sapiens_hsa040700.40917862
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.40766816
88Lysine degradation_Homo sapiens_hsa003100.40174220
89Gap junction_Homo sapiens_hsa045400.38768771
90Serotonergic synapse_Homo sapiens_hsa047260.37038140
91Glioma_Homo sapiens_hsa052140.36141961
92Morphine addiction_Homo sapiens_hsa050320.35197513
93beta-Alanine metabolism_Homo sapiens_hsa004100.35167262
94Renal cell carcinoma_Homo sapiens_hsa052110.34985560
95Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34501258
96Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.32668433
97Regulation of autophagy_Homo sapiens_hsa041400.32171998
98Nicotine addiction_Homo sapiens_hsa050330.31772642
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.29413864
100ErbB signaling pathway_Homo sapiens_hsa040120.26693288
101Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.26277783
102Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25951043
103Huntingtons disease_Homo sapiens_hsa050160.25258057
104Estrogen signaling pathway_Homo sapiens_hsa049150.24742725
105ECM-receptor interaction_Homo sapiens_hsa045120.22641679
106PPAR signaling pathway_Homo sapiens_hsa033200.22577535
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20751507
108* Long-term depression_Homo sapiens_hsa047300.20704600
109Butanoate metabolism_Homo sapiens_hsa006500.20338360
110Oocyte meiosis_Homo sapiens_hsa041140.19624010
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.18905960
112Bile secretion_Homo sapiens_hsa049760.17882144
113Histidine metabolism_Homo sapiens_hsa003400.17379191
114ABC transporters_Homo sapiens_hsa020100.15900767
115Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15270459

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