PPP1R3A

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: The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)9.58591841
2actin-myosin filament sliding (GO:0033275)9.58591841
3regulation of skeletal muscle contraction (GO:0014819)9.22351618
4sarcoplasmic reticulum calcium ion transport (GO:0070296)8.57436822
5positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)8.13302317
6sarcomere organization (GO:0045214)8.02366226
7actin-mediated cell contraction (GO:0070252)7.92666141
8regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)7.44844098
9skeletal muscle contraction (GO:0003009)7.08235985
10myofibril assembly (GO:0030239)7.05245893
11negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.03204222
12skeletal muscle adaptation (GO:0043501)6.52180117
13regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)6.42828418
14cardiac myofibril assembly (GO:0055003)6.41592687
15regulation of cell communication by electrical coupling (GO:0010649)6.40681528
16regulation of relaxation of muscle (GO:1901077)6.34783636
17carnitine shuttle (GO:0006853)6.34668689
18plasma membrane repair (GO:0001778)6.31034766
19regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)6.15078744
20striated muscle contraction (GO:0006941)6.06315381
21tricarboxylic acid cycle (GO:0006099)5.93481045
22actin filament-based movement (GO:0030048)5.92570593
23negative regulation of potassium ion transmembrane transport (GO:1901380)5.92239791
24regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.85812726
25cardiac muscle contraction (GO:0060048)5.71179588
26response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.70313883
27regulation of acyl-CoA biosynthetic process (GO:0050812)5.60934135
28fatty acid transmembrane transport (GO:1902001)5.58081312
29creatine metabolic process (GO:0006600)5.45931593
30actomyosin structure organization (GO:0031032)5.28045451
31regulation of actin filament-based movement (GO:1903115)5.23680168
32regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.15850313
33regulation of cofactor metabolic process (GO:0051193)5.09090481
34regulation of coenzyme metabolic process (GO:0051196)5.09090481
35cardiac muscle cell development (GO:0055013)4.90822894
36glycogen catabolic process (GO:0005980)4.89479895
37carnitine transmembrane transport (GO:1902603)4.71240901
38cardiac muscle hypertrophy (GO:0003300)4.64076493
39muscle contraction (GO:0006936)4.59987644
40regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.59633446
41striated muscle atrophy (GO:0014891)4.59024053
42cardiac cell development (GO:0055006)4.59008351
43striated muscle hypertrophy (GO:0014897)4.57702848
44glucan catabolic process (GO:0009251)4.57425826
45regulation of sarcomere organization (GO:0060297)4.54801197
46response to inactivity (GO:0014854)4.54489465
47regulation of striated muscle contraction (GO:0006942)4.54104257
48response to muscle activity (GO:0014850)4.52110172
49skeletal muscle tissue development (GO:0007519)4.51507607
50striated muscle adaptation (GO:0014888)4.45799939
51heart process (GO:0003015)4.39614225
52heart contraction (GO:0060047)4.39614225
53carnitine transport (GO:0015879)4.29885014
54amino-acid betaine transport (GO:0015838)4.29885014
55cellular polysaccharide catabolic process (GO:0044247)4.27592756
56muscle system process (GO:0003012)4.22269891
57pyrimidine ribonucleoside catabolic process (GO:0046133)4.18253366
58regulation of sulfur metabolic process (GO:0042762)4.16968966
59ventricular cardiac muscle cell action potential (GO:0086005)4.12005978
60cardiac muscle tissue morphogenesis (GO:0055008)4.11257473
61skeletal muscle fiber development (GO:0048741)4.10812964
62skeletal muscle tissue regeneration (GO:0043403)4.07464098
63polysaccharide catabolic process (GO:0000272)4.05262778
64regulation of the force of heart contraction (GO:0002026)4.04663880
65muscle hypertrophy (GO:0014896)4.03904213
66regulation of membrane repolarization (GO:0060306)4.03020875
67positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.02210092
68glycogen biosynthetic process (GO:0005978)4.01779976
69glucan biosynthetic process (GO:0009250)4.01779976
70muscle atrophy (GO:0014889)3.95989152
71muscle fiber development (GO:0048747)3.91184208
72muscle tissue morphogenesis (GO:0060415)3.90322239
73negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.85825865
74regulation of calcium ion transmembrane transporter activity (GO:1901019)3.85811465
75regulation of calcium ion transmembrane transport (GO:1903169)3.85811465
76cytidine metabolic process (GO:0046087)3.81360769
77cytidine catabolic process (GO:0006216)3.81360769
78cytidine deamination (GO:0009972)3.81360769
79negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.77005925
80negative regulation of calcium ion transmembrane transport (GO:1903170)3.77005925
81relaxation of muscle (GO:0090075)3.75615128
82striated muscle cell development (GO:0055002)3.74108993
832-oxoglutarate metabolic process (GO:0006103)3.73153673
84muscle structure development (GO:0061061)3.67821090
85myotube cell development (GO:0014904)3.66763918
86muscle adaptation (GO:0043500)3.66178034
87muscle organ development (GO:0007517)3.65050278
88adult heart development (GO:0007512)3.61992524
89muscle cell fate commitment (GO:0042693)3.58127882
90relaxation of cardiac muscle (GO:0055119)3.54134676
91oxidative phosphorylation (GO:0006119)3.53594625
92heart trabecula formation (GO:0060347)3.53546232
93mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.53315547
94NADH metabolic process (GO:0006734)3.51039049
95bundle of His cell to Purkinje myocyte communication (GO:0086069)3.47252899
96regulation of skeletal muscle cell differentiation (GO:2001014)3.46976386
97positive regulation of cation channel activity (GO:2001259)3.43873994
98response to activity (GO:0014823)3.40926291
99regulation of sequestering of triglyceride (GO:0010889)3.40790843
100respiratory electron transport chain (GO:0022904)3.40457962
101regulation of muscle system process (GO:0090257)3.39892096
102succinate metabolic process (GO:0006105)3.39744603
103cell communication involved in cardiac conduction (GO:0086065)3.38685270
104muscle cell development (GO:0055001)3.38664415
105cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37959938
106negative regulation of muscle hypertrophy (GO:0014741)3.36755524
107myotube differentiation (GO:0014902)3.35315654
108* glycogen metabolic process (GO:0005977)3.34641839
109cardiac muscle adaptation (GO:0014887)3.34629538
110cardiac muscle hypertrophy in response to stress (GO:0014898)3.34629538
111muscle hypertrophy in response to stress (GO:0003299)3.34629538
112gluconeogenesis (GO:0006094)3.33952224
113mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.32778571
114positive regulation of myotube differentiation (GO:0010831)3.32290261
115fructose metabolic process (GO:0006000)3.31425592
116electron transport chain (GO:0022900)3.29549778
117muscle cell cellular homeostasis (GO:0046716)3.29396114
118negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.28801193
119response to caffeine (GO:0031000)3.28684036
120membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.27862619
121* cellular glucan metabolic process (GO:0006073)3.27781931
122* glucan metabolic process (GO:0044042)3.27781931
123regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.27745476
124regulation of myoblast differentiation (GO:0045661)3.25343718
125striated muscle tissue development (GO:0014706)3.24913642

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.24680758
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.09070911
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.21179069
4ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.07131712
5EP300_21415370_ChIP-Seq_HL-1_Mouse3.95387571
6TBX20_22328084_ChIP-Seq_HEART_Mouse3.69910233
7TBX20_22080862_ChIP-Seq_HEART_Mouse3.69910233
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.59402523
9ZNF263_19887448_ChIP-Seq_K562_Human2.97934551
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.90126619
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.65588398
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.61127576
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.51847101
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.48681312
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.46851941
16RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.30724822
17* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.08052148
18GATA1_22025678_ChIP-Seq_K562_Human1.92370528
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.86909808
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.83037184
21BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.82978823
22EZH2_22144423_ChIP-Seq_EOC_Human1.81121147
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.76751227
24GBX2_23144817_ChIP-Seq_PC3_Human1.76426619
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.72460099
26RBPJ_22232070_ChIP-Seq_NCS_Mouse1.67715237
27NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.67520973
28ZNF274_21170338_ChIP-Seq_K562_Hela1.64128609
29CLOCK_20551151_ChIP-Seq_293T_Human1.60682084
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.57113703
31EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.53600620
32PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.50616371
33TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.42535894
34TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38193776
35NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38115261
36ESR2_21235772_ChIP-Seq_MCF-7_Human1.37763215
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.36993582
38PPARA_22158963_ChIP-Seq_LIVER_Mouse1.36678160
39EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.32065941
40EZH2_27294783_Chip-Seq_NPCs_Mouse1.21919404
41SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20471764
42CTCF_27219007_Chip-Seq_Bcells_Human1.20106431
43ESR1_21235772_ChIP-Seq_MCF-7_Human1.19736795
44STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19606508
45LXR_22158963_ChIP-Seq_LIVER_Mouse1.19587493
46NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.18604711
47PPAR_26484153_Chip-Seq_NCI-H1993_Human1.17262522
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15625323
49AR_21572438_ChIP-Seq_LNCaP_Human1.14642532
50PCGF2_27294783_Chip-Seq_ESCs_Mouse1.14481676
51CRX_20693478_ChIP-Seq_RETINA_Mouse1.14347848
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.13670164
53ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.13595714
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.11357906
55SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.11123166
56FOXH1_21741376_ChIP-Seq_ESCs_Human1.10461506
57IGF1R_20145208_ChIP-Seq_DFB_Human1.08865787
58CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08238153
59CJUN_26792858_Chip-Seq_BT549_Human1.08227107
60PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.07608017
61OCT4_21477851_ChIP-Seq_ESCs_Mouse1.06071976
62DROSHA_22980978_ChIP-Seq_HELA_Human1.04686132
63CTCF_21964334_ChIP-Seq_BJAB-B_Human1.04637428
64RXR_22158963_ChIP-Seq_LIVER_Mouse1.04214064
65GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.02885226
66AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02558053
67* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.01269199
68VDR_22108803_ChIP-Seq_LS180_Human0.99062820
69BCAT_22108803_ChIP-Seq_LS180_Human0.98625088
70RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98223723
71OCT4_20526341_ChIP-Seq_ESCs_Human0.97421434
72FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.96841899
73SOX2_21211035_ChIP-Seq_LN229_Gbm0.96620949
74SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.96390530
75NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.95538315
76EZH2_27294783_Chip-Seq_ESCs_Mouse0.93562500
77KDM2B_26808549_Chip-Seq_DND41_Human0.93067138
78P63_26484246_Chip-Seq_KERATINOCYTES_Human0.92844347
79* SMAD4_21799915_ChIP-Seq_A2780_Human0.90421236
80* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89995321
81* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89995321
82RARB_27405468_Chip-Seq_BRAIN_Mouse0.89719680
83SMC3_22415368_ChIP-Seq_MEFs_Mouse0.88833838
84NR3C1_23031785_ChIP-Seq_PC12_Mouse0.88669915
85KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.86664089
86TDRD3_21172665_ChIP-Seq_MCF-7_Human0.86635717
87GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.85759850
88HTT_18923047_ChIP-ChIP_STHdh_Human0.85548520
89TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85502719
90TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.84263569
91* POU3F2_20337985_ChIP-ChIP_501MEL_Human0.84021266
92P53_22127205_ChIP-Seq_FIBROBLAST_Human0.83417150
93KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82677668
94TAF15_26573619_Chip-Seq_HEK293_Human0.82658719
95ATF3_27146783_Chip-Seq_COLON_Human0.82653034
96RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.82621265
97KLF5_20875108_ChIP-Seq_MESCs_Mouse0.82371866
98SMC1_22415368_ChIP-Seq_MEFs_Mouse0.82324816
99GATA1_19941826_ChIP-Seq_K562_Human0.82212850
100PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.82205269
101AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.81867346
102FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.81511617
103TP63_22573176_ChIP-Seq_HFKS_Human0.81503796
104NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80577634
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80493340
106STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.79935788
107FOXA2_19822575_ChIP-Seq_HepG2_Human0.79802211
108SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.78783677
109CBP_21632823_ChIP-Seq_H3396_Human0.78717864
110MYC_27129775_Chip-Seq_CORNEA_Mouse0.78700645
111SPI1_20517297_ChIP-Seq_HL60_Human0.78645035
112SOX9_24532713_ChIP-Seq_HFSC_Mouse0.78092939
113PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.77709765
114HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.77576686
115* ER_23166858_ChIP-Seq_MCF-7_Human0.77471460
116RUNX1_27514584_Chip-Seq_MCF-7_Human0.77249543
117E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.76729047
118GATA2_19941826_ChIP-Seq_K562_Human0.75686792
119CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.75409598
120IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.75148407
121CBP_20019798_ChIP-Seq_JUKART_Human0.75148407
122YAP1_20516196_ChIP-Seq_MESCs_Mouse0.74928560
123GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74446637
124CTNNB1_20460455_ChIP-Seq_HCT116_Human0.74214489
125GF1_26923725_Chip-Seq_HPCs_Mouse0.74199850
126RACK7_27058665_Chip-Seq_MCF-7_Human0.73919837
127CTCF_21964334_Chip-Seq_Bcells_Human0.73637779
128SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.73250068
129MTF2_20144788_ChIP-Seq_MESCs_Mouse0.72970507
130GATA2_21666600_ChIP-Seq_HMVEC_Human0.72960634
131E2F1_18555785_Chip-Seq_ESCs_Mouse0.72618913
132HIF1A_21447827_ChIP-Seq_MCF-7_Human0.72588028
133NFYB_21822215_ChIP-Seq_K562_Human0.72114273
134FLI1_21867929_ChIP-Seq_TH2_Mouse0.71989129
135TBL1_22424771_ChIP-Seq_293T_Human0.71946081
136MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.71736182
137PHF8_20622853_ChIP-Seq_HELA_Human0.71632708
138LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.71593246
139ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.70971484
140SMAD3_21741376_ChIP-Seq_HESCs_Human0.70348456
141DNAJC2_21179169_ChIP-ChIP_NT2_Human0.70111309
142WT1_19549856_ChIP-ChIP_CCG9911_Human0.69803654
143SMAD4_21741376_ChIP-Seq_HESCs_Human0.69651412
144CEBPB_22108803_ChIP-Seq_LS180_Human0.69567991
145* ISL1_27105846_Chip-Seq_CPCs_Mouse0.69447837
146P68_20966046_ChIP-Seq_HELA_Human0.69331982
147YY1_22570637_ChIP-Seq_MALME-3M_Human0.68198562
148WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.67527124
149JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.67424997
150CREB1_26743006_Chip-Seq_LNCaP_Human0.66509436

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.32579085
2MP0000751_myopathy5.57189629
3MP0004145_abnormal_muscle_electrophysio5.51104147
4MP0000749_muscle_degeneration5.34942368
5MP0002837_dystrophic_cardiac_calcinosis5.25986158
6MP0004036_abnormal_muscle_relaxation4.37270178
7MP0004084_abnormal_cardiac_muscle4.12710629
8MP0004215_abnormal_myocardial_fiber3.63483198
9MP0002106_abnormal_muscle_physiology3.57415346
10MP0004087_abnormal_muscle_fiber3.46081462
11MP0000747_muscle_weakness3.32477567
12MP0005330_cardiomyopathy3.22652424
13MP0000750_abnormal_muscle_regeneration3.13412006
14MP0005620_abnormal_muscle_contractility3.12691463
15MP0002269_muscular_atrophy3.10367362
16MP0000759_abnormal_skeletal_muscle2.99201852
17MP0005369_muscle_phenotype2.91892312
18* MP0004130_abnormal_muscle_cell2.88758153
19MP0002972_abnormal_cardiac_muscle2.42261157
20MP0004484_altered_response_of2.34691316
21MP0004233_abnormal_muscle_weight2.25935455
22MP0008775_abnormal_heart_ventricle2.16554691
23MP0010630_abnormal_cardiac_muscle2.11013118
24MP0006036_abnormal_mitochondrial_physio2.05844671
25MP0003137_abnormal_impulse_conducting2.00854273
26MP0002332_abnormal_exercise_endurance1.95892238
27MP0001544_abnormal_cardiovascular_syste1.93454840
28MP0005385_cardiovascular_system_phenoty1.93454840
29MP0003221_abnormal_cardiomyocyte_apopto1.81716538
30MP0004510_myositis1.69050346
31MP0005666_abnormal_adipose_tissue1.50565810
32MP0000733_abnormal_muscle_development1.47368271
33MP0002108_abnormal_muscle_morphology1.47300952
34MP0006138_congestive_heart_failure1.43218164
35MP0003950_abnormal_plasma_membrane1.41162946
36MP0004185_abnormal_adipocyte_glucose1.40197249
37MP0001661_extended_life_span1.40197154
38MP0004085_abnormal_heartbeat1.38318535
39MP0003828_pulmonary_edema1.38125780
40MP0002127_abnormal_cardiovascular_syste1.28054074
41MP0006035_abnormal_mitochondrial_morpho1.22357787
42MP0005375_adipose_tissue_phenotype1.04284348
43MP0002971_abnormal_brown_adipose1.01774830
44MP0005670_abnormal_white_adipose1.00697214
45MP0005266_abnormal_metabolism1.00097175
46MP0000343_altered_response_to0.98367751
47MP0003806_abnormal_nucleotide_metabolis0.94501167
48MP0000266_abnormal_heart_morphology0.92232971
49MP0003567_abnormal_fetal_cardiomyocyte0.90020113
50MP0002822_catalepsy0.83637446
51MP0000013_abnormal_adipose_tissue0.83030928
52MP0002234_abnormal_pharynx_morphology0.82291749
53MP0004043_abnormal_pH_regulation0.80918895
54MP0005165_increased_susceptibility_to0.78883557
55MP0004147_increased_porphyrin_level0.74431738
56MP0003705_abnormal_hypodermis_morpholog0.64900448
57MP0000003_abnormal_adipose_tissue0.61335123
58MP0000230_abnormal_systemic_arterial0.59751118
59MP0005275_abnormal_skin_tensile0.58555580
60MP0003045_fibrosis0.57251191
61* MP0002078_abnormal_glucose_homeostasis0.56907033
62MP0008961_abnormal_basal_metabolism0.55402670
63MP0002128_abnormal_blood_circulation0.52943153
64MP0004142_abnormal_muscle_tone0.48679386
65MP0003879_abnormal_hair_cell0.46015903
66MP0010368_abnormal_lymphatic_system0.45468805
67MP0005319_abnormal_enzyme/_coenzyme0.44320629
68MP0001299_abnormal_eye_distance/0.42985792
69MP0003656_abnormal_erythrocyte_physiolo0.42667753
70MP0004270_analgesia0.41584085
71MP0002638_abnormal_pupillary_reflex0.40549292
72MP0001879_abnormal_lymphatic_vessel0.38777235
73* MP0005334_abnormal_fat_pad0.37318462
74MP0005535_abnormal_body_temperature0.36505991
75MP0005187_abnormal_penis_morphology0.35394129
76MP0003279_aneurysm0.35165429
77MP0003566_abnormal_cell_adhesion0.34297027
78MP0005167_abnormal_blood-brain_barrier0.34280094
79MP0008438_abnormal_cutaneous_collagen0.33040863
80MP0005083_abnormal_biliary_tract0.32380695
81MP0003195_calcinosis0.31191796
82MP0002909_abnormal_adrenal_gland0.30488510
83MP0003948_abnormal_gas_homeostasis0.30377699
84MP0002114_abnormal_axial_skeleton0.30323255
85MP0002118_abnormal_lipid_homeostasis0.29765252
86MP0009115_abnormal_fat_cell0.28950181
87MP0005451_abnormal_body_composition0.26640430
88MP0009780_abnormal_chondrocyte_physiolo0.26037089
89* MP0005452_abnormal_adipose_tissue0.25882592
90MP0002925_abnormal_cardiovascular_devel0.25820156
91MP0005166_decreased_susceptibility_to0.25556828
92MP0000762_abnormal_tongue_morphology0.25084979
93MP0001853_heart_inflammation0.24556831
94MP0010030_abnormal_orbit_morphology0.24308158
95MP0000372_irregular_coat_pigmentation0.23915230
96MP0003959_abnormal_lean_body0.23380127
97MP0005623_abnormal_meninges_morphology0.23264307
98MP0000767_abnormal_smooth_muscle0.22872703
99MP0005423_abnormal_somatic_nervous0.22550128
100MP0003941_abnormal_skin_development0.22094023
101MP0002896_abnormal_bone_mineralization0.21965387
102MP0004134_abnormal_chest_morphology0.21717911
103MP0008569_lethality_at_weaning0.21452780
104MP0000579_abnormal_nail_morphology0.21363392
105* MP0005584_abnormal_enzyme/coenzyme_acti0.21325262
106MP0006276_abnormal_autonomic_nervous0.21186945
107MP0002734_abnormal_mechanical_nocicepti0.21059879
108MP0001984_abnormal_olfaction0.20940719
109MP0001784_abnormal_fluid_regulation0.20458852
110MP0005376_homeostasis/metabolism_phenot0.20431801
111MP0001614_abnormal_blood_vessel0.20243865
112MP0001943_abnormal_respiration0.19846653
113MP0009250_abnormal_appendicular_skeleto0.19254909
114MP0009672_abnormal_birth_weight0.19215510
115MP0005386_behavior/neurological_phenoty0.18875657
116MP0004924_abnormal_behavior0.18875657
117MP0002066_abnormal_motor_capabilities/c0.18610091
118MP0009384_cardiac_valve_regurgitation0.18460900
119MP0005332_abnormal_amino_acid0.17795667
120MP0001346_abnormal_lacrimal_gland0.12451956
121MP0002168_other_aberrant_phenotype0.12380601
122MP0008874_decreased_physiological_sensi0.11368333
123MP0004197_abnormal_fetal_growth/weight/0.11320524

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)8.20420351
2Exercise-induced muscle cramps (HP:0003710)7.72781602
3Muscle fiber inclusion bodies (HP:0100299)7.37264084
4Muscle hypertrophy of the lower extremities (HP:0008968)7.16274051
5Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.15889736
6Calf muscle hypertrophy (HP:0008981)6.92385909
7Nemaline bodies (HP:0003798)6.49173713
8Myoglobinuria (HP:0002913)5.92319344
9Muscle fiber splitting (HP:0003555)5.78959129
10Sudden death (HP:0001699)5.72916702
11Type 1 muscle fiber predominance (HP:0003803)5.44334664
12Distal arthrogryposis (HP:0005684)5.28861266
13Hyporeflexia of lower limbs (HP:0002600)5.23299628
14Difficulty running (HP:0009046)5.07854794
15Abnormality of the calf musculature (HP:0001430)5.05886093
16Rhabdomyolysis (HP:0003201)4.77274899
17EMG: myopathic abnormalities (HP:0003458)4.68376026
18Myopathic facies (HP:0002058)4.59678502
19Ventricular tachycardia (HP:0004756)4.59408439
20Increased connective tissue (HP:0009025)4.42805063
21Round ear (HP:0100830)4.41696359
22Muscle stiffness (HP:0003552)4.25539644
23Subaortic stenosis (HP:0001682)4.16190260
24Abnormality of the left ventricular outflow tract (HP:0011103)4.16190260
25Myotonia (HP:0002486)4.08940991
26Ulnar deviation of the wrist (HP:0003049)4.07683692
27Atrial fibrillation (HP:0005110)3.58718297
28Lipoatrophy (HP:0100578)3.50855941
29Asymmetric septal hypertrophy (HP:0001670)3.47100276
30Calcaneovalgus deformity (HP:0001848)3.42907155
31Rimmed vacuoles (HP:0003805)3.36843450
32Difficulty climbing stairs (HP:0003551)3.36388043
33Abnormality of skeletal muscle fiber size (HP:0012084)3.34849149
34Primary atrial arrhythmia (HP:0001692)3.34291082
35Right ventricular cardiomyopathy (HP:0011663)3.32986639
36Neck muscle weakness (HP:0000467)3.25017929
37Absent phalangeal crease (HP:0006109)3.24902359
38Increased variability in muscle fiber diameter (HP:0003557)3.23424086
39Supraventricular tachycardia (HP:0004755)3.22203670
40Areflexia of lower limbs (HP:0002522)3.15137778
41Supraventricular arrhythmia (HP:0005115)3.14664476
42Dilated cardiomyopathy (HP:0001644)3.09833614
43Deformed tarsal bones (HP:0008119)3.07198316
44Bundle branch block (HP:0011710)3.03952441
45Syncope (HP:0001279)2.95013244
46Palpitations (HP:0001962)2.82430770
47Distal lower limb muscle weakness (HP:0009053)2.70969349
48Ventricular arrhythmia (HP:0004308)2.69586716
49Abnormal finger flexion creases (HP:0006143)2.67522843
50Hypoplastic ischia (HP:0003175)2.64051803
51Prolonged QT interval (HP:0001657)2.60906742
52Frequent falls (HP:0002359)2.60870568
53Heart block (HP:0012722)2.51737629
54Fetal akinesia sequence (HP:0001989)2.51319274
55Muscular dystrophy (HP:0003560)2.46743739
56Malignant hyperthermia (HP:0002047)2.39661846
57Abnormal atrioventricular conduction (HP:0005150)2.37241939
58Hyperkalemia (HP:0002153)2.36946226
59EMG: neuropathic changes (HP:0003445)2.34458889
60Abnormality of the ischium (HP:0003174)2.32534312
61Abnormality of the hip-girdle musculature (HP:0001445)2.32008235
62Abnormality of the musculature of the pelvis (HP:0001469)2.32008235
63Generalized muscle weakness (HP:0003324)2.29151073
64Facial diplegia (HP:0001349)2.28388322
65Pelvic girdle muscle weakness (HP:0003749)2.27293487
66Shoulder girdle muscle weakness (HP:0003547)2.25176619
67Hip contracture (HP:0003273)2.24755193
68Abnormality of the foot musculature (HP:0001436)2.20146109
69Limb-girdle muscle atrophy (HP:0003797)2.19381959
70Weak cry (HP:0001612)2.18252027
71Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.17924139
72Proximal amyotrophy (HP:0007126)2.16942042
73Atrioventricular block (HP:0001678)2.14655223
74Gowers sign (HP:0003391)2.13966720
75Abnormal mitochondria in muscle tissue (HP:0008316)2.10847312
76Ketoacidosis (HP:0001993)2.10200948
77Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.09887641
78Abnormality of alanine metabolism (HP:0010916)2.09887641
79Hyperalaninemia (HP:0003348)2.09887641
80Waddling gait (HP:0002515)2.07830351
81Hepatic necrosis (HP:0002605)2.06916572
82Mildly elevated creatine phosphokinase (HP:0008180)2.06014651
83Scapular winging (HP:0003691)2.04866241
84Limb-girdle muscle weakness (HP:0003325)2.04732299
85Foot dorsiflexor weakness (HP:0009027)2.04218820
86Distal lower limb amyotrophy (HP:0008944)2.01706974
87Acute necrotizing encephalopathy (HP:0006965)2.00979738
88Left ventricular hypertrophy (HP:0001712)2.00027209
89Progressive muscle weakness (HP:0003323)1.97222556
90Ventricular fibrillation (HP:0001663)1.95514752
91Hypoglycemic coma (HP:0001325)1.95233718
92Exercise intolerance (HP:0003546)1.94931220
93Abnormality of the calcaneus (HP:0008364)1.94097421
94Abnormality of the neuromuscular junction (HP:0003398)1.93785736
95Fatigable weakness (HP:0003473)1.93785736
96Centrally nucleated skeletal muscle fibers (HP:0003687)1.90717532
97Lower limb amyotrophy (HP:0007210)1.90706503
98Ragged-red muscle fibers (HP:0003200)1.90687869
99Abnormal EKG (HP:0003115)1.90120377
100Increased muscle lipid content (HP:0009058)1.85600503
101Respiratory insufficiency due to muscle weakness (HP:0002747)1.82250704
102Paralysis (HP:0003470)1.81989474
103Bulbar palsy (HP:0001283)1.80037816
104Abnormality of the shoulder girdle musculature (HP:0001435)1.79807189
105Spinal rigidity (HP:0003306)1.78515573
106Hepatocellular necrosis (HP:0001404)1.75439594
107Acute encephalopathy (HP:0006846)1.75343325
108Metatarsus adductus (HP:0001840)1.74333116
109Long clavicles (HP:0000890)1.74079830
110Slender build (HP:0001533)1.72720805
111Palmoplantar keratoderma (HP:0000982)1.72327006
112Steppage gait (HP:0003376)1.70573619
113Ulnar deviation of finger (HP:0009465)1.66304027
114Nonprogressive disorder (HP:0003680)1.61607931
115Limited hip movement (HP:0008800)1.54591823
116Diaphragmatic weakness (HP:0009113)1.52305819
117Increased intramyocellular lipid droplets (HP:0012240)1.51539552
118Type 2 muscle fiber atrophy (HP:0003554)1.46865782

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.63966040
2TTN6.16819194
3PHKG15.20618352
4PHKG25.20618352
5PDK43.30461036
6PDK33.30461036
7NEK12.57850401
8DMPK2.47880838
9NME12.45745853
10PINK12.25229924
11TRIB32.15929367
12PDK22.13249222
13PIK3CG2.11298638
14PIK3CA2.04504695
15BCKDK2.02727687
16MAP2K31.96313073
17PKN21.91358434
18LMTK21.80785613
19MAP3K71.80262214
20STK241.64695188
21MUSK1.61587594
22MYLK1.37121159
23MAPK121.34652190
24TIE11.19931861
25ZAK1.17282304
26GRK71.13937930
27MARK11.11366007
28PRKAA21.02655052
29MAP2K41.01249990
30NEK90.98855962
31PRKAA10.97726338
32INSRR0.95400749
33CCNB10.93880171
34EEF2K0.89831701
35TRPM70.89372612
36ILK0.81399555
37CAMK2D0.79441698
38MAP2K60.79023362
39MAP3K30.72827117
40MAPKAPK30.71728296
41PRKD10.70764256
42MOS0.67997830
43RIPK10.53842424
44ROCK10.51392544
45CAMK2G0.51075158
46FLT30.50029112
47PKN10.49982852
48MAP3K50.49583438
49PAK30.49427226
50AKT20.49139378
51MAP3K130.49046380
52DYRK1B0.48249277
53CAMK40.45661921
54SIK10.43128165
55CAMK2B0.43120397
56EPHB10.41424760
57PRKACB0.38973897
58MAPK110.38455803
59STK38L0.38421278
60SGK20.36664830
61WNK10.36434376
62ERBB30.34808857
63PTK60.33374929
64PDGFRA0.32690027
65PDPK10.31397538
66CAMK2A0.31091232
67TAOK20.29619822
68PDK10.29529741
69LATS10.29356724
70TGFBR20.28828370
71LIMK10.28690055
72* PRKACA0.27977245
73SGK10.27776153
74CAMK10.27325596
75WNK40.25924573
76PRKG10.25291062
77EPHA30.24329294
78STK380.23541995
79RPS6KB10.23188838
80MAP3K110.22583258
81MAPK100.21949676
82ROCK20.21190542
83MAPK70.20883031
84TBK10.20692738
85STK40.20576419
86STK110.19129957
87MARK30.18806778
88MAPK130.18604243
89NLK0.17866037
90TAOK10.17321276
91* PRKACG0.16774430
92CDC42BPA0.16751814
93MARK20.16645700
94* RPS6KA30.15944089
95MAP3K60.15298242
96KDR0.15221939
97RET0.15108782
98SGK4940.15034507
99SGK2230.15034507
100SGK30.14877210
101ZAP700.13406901
102STK390.13267022
103MAP3K10.13233046
104LATS20.13002889
105RAF10.12915806
106RPS6KB20.12763549
107FGFR30.12592794
108RPS6KA60.11146618
109JAK10.10753444
110KSR20.10174568
111PTK2B0.10114822
112LRRK20.09435719
113PRKCH0.09359333
114ICK0.08114750
115RPS6KL10.07834182
116RPS6KC10.07834182
117CAMK1G0.07828625
118MTOR0.07819830
119JAK20.07443884
120MAPK40.07234794
121MAP3K100.06877556
122MAP2K10.06457519
123PAK60.05966484
124DAPK20.05090058
125KSR10.04207113
126PRKG20.03528044
127PRPF4B0.03382514
128PRKDC0.02710461

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.71128110
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.04183024
3Cardiac muscle contraction_Homo sapiens_hsa042603.85870654
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.85312455
5Dilated cardiomyopathy_Homo sapiens_hsa054143.57118597
6Propanoate metabolism_Homo sapiens_hsa006403.34378594
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.10091092
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.81683851
9Fatty acid degradation_Homo sapiens_hsa000712.69634483
10Parkinsons disease_Homo sapiens_hsa050122.54598280
11Carbon metabolism_Homo sapiens_hsa012002.50446909
12Oxidative phosphorylation_Homo sapiens_hsa001902.36913847
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.32600555
14Alzheimers disease_Homo sapiens_hsa050102.03119037
15Fatty acid metabolism_Homo sapiens_hsa012122.02671654
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.91698633
17Starch and sucrose metabolism_Homo sapiens_hsa005001.87838395
18Pyruvate metabolism_Homo sapiens_hsa006201.81412035
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70046680
20Glucagon signaling pathway_Homo sapiens_hsa049221.61915999
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.60187349
22Viral myocarditis_Homo sapiens_hsa054161.51914251
23Huntingtons disease_Homo sapiens_hsa050161.42501740
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.41555339
25Adipocytokine signaling pathway_Homo sapiens_hsa049201.38572115
26* Insulin resistance_Homo sapiens_hsa049311.37023120
27Oxytocin signaling pathway_Homo sapiens_hsa049211.34018512
28* Insulin signaling pathway_Homo sapiens_hsa049101.33913818
29Circadian rhythm_Homo sapiens_hsa047101.25855821
30Biosynthesis of amino acids_Homo sapiens_hsa012301.23914377
31Butanoate metabolism_Homo sapiens_hsa006501.20446781
32AMPK signaling pathway_Homo sapiens_hsa041521.19473605
33Calcium signaling pathway_Homo sapiens_hsa040201.19398242
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11865001
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.06052260
36Fatty acid elongation_Homo sapiens_hsa000621.05376597
37Galactose metabolism_Homo sapiens_hsa000521.00556685
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.99067603
39Nitrogen metabolism_Homo sapiens_hsa009100.93743670
40PPAR signaling pathway_Homo sapiens_hsa033200.92422496
41Arginine and proline metabolism_Homo sapiens_hsa003300.89329108
42Fructose and mannose metabolism_Homo sapiens_hsa000510.83696953
43beta-Alanine metabolism_Homo sapiens_hsa004100.77549891
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.77469364
45Focal adhesion_Homo sapiens_hsa045100.76458417
46Tight junction_Homo sapiens_hsa045300.73950613
47Arginine biosynthesis_Homo sapiens_hsa002200.73896465
48HIF-1 signaling pathway_Homo sapiens_hsa040660.72691938
49Gastric acid secretion_Homo sapiens_hsa049710.68240198
50Long-term potentiation_Homo sapiens_hsa047200.65231467
51Central carbon metabolism in cancer_Homo sapiens_hsa052300.64540365
52Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63597003
53Fatty acid biosynthesis_Homo sapiens_hsa000610.61391528
54Type II diabetes mellitus_Homo sapiens_hsa049300.60136645
55Tryptophan metabolism_Homo sapiens_hsa003800.59580270
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58591158
57Renin secretion_Homo sapiens_hsa049240.56826887
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56744644
59Lysine degradation_Homo sapiens_hsa003100.51599211
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48379883
61Salivary secretion_Homo sapiens_hsa049700.47192794
62mTOR signaling pathway_Homo sapiens_hsa041500.46062396
63FoxO signaling pathway_Homo sapiens_hsa040680.45741377
64Regulation of autophagy_Homo sapiens_hsa041400.44564479
65Peroxisome_Homo sapiens_hsa041460.41867972
66Insulin secretion_Homo sapiens_hsa049110.41246693
67GnRH signaling pathway_Homo sapiens_hsa049120.40348594
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39141990
69Adherens junction_Homo sapiens_hsa045200.39104073
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37777936
71Phenylalanine metabolism_Homo sapiens_hsa003600.35326187
72Pentose phosphate pathway_Homo sapiens_hsa000300.35312107
73Long-term depression_Homo sapiens_hsa047300.34411658
74Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.34317831
75Platelet activation_Homo sapiens_hsa046110.30085263
76Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29523362
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29180555
78VEGF signaling pathway_Homo sapiens_hsa043700.28964734
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28772835
80cAMP signaling pathway_Homo sapiens_hsa040240.28678670
81Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.27918259
82Amoebiasis_Homo sapiens_hsa051460.24322485
83Leukocyte transendothelial migration_Homo sapiens_hsa046700.23482397
84MAPK signaling pathway_Homo sapiens_hsa040100.22574888
85ECM-receptor interaction_Homo sapiens_hsa045120.21173252
86Pancreatic secretion_Homo sapiens_hsa049720.20369526
87Amphetamine addiction_Homo sapiens_hsa050310.20348325
88Renal cell carcinoma_Homo sapiens_hsa052110.20206074
89Circadian entrainment_Homo sapiens_hsa047130.19944329
90Fat digestion and absorption_Homo sapiens_hsa049750.19643852
91Proteoglycans in cancer_Homo sapiens_hsa052050.19642784
92Aldosterone synthesis and secretion_Homo sapiens_hsa049250.19522610
93Endometrial cancer_Homo sapiens_hsa052130.19319307
94Ovarian steroidogenesis_Homo sapiens_hsa049130.18335923
95Metabolic pathways_Homo sapiens_hsa011000.18087488
96Carbohydrate digestion and absorption_Homo sapiens_hsa049730.17731872
97Glioma_Homo sapiens_hsa052140.16790761
98Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.16591708
99Cholinergic synapse_Homo sapiens_hsa047250.14385423
100Cysteine and methionine metabolism_Homo sapiens_hsa002700.13593814
101Purine metabolism_Homo sapiens_hsa002300.13020492
102Histidine metabolism_Homo sapiens_hsa003400.11106399
103Dorso-ventral axis formation_Homo sapiens_hsa043200.10693395
104Tyrosine metabolism_Homo sapiens_hsa003500.08115286
105Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.07956333
106ABC transporters_Homo sapiens_hsa020100.05047284
107Glycerolipid metabolism_Homo sapiens_hsa005610.04824275
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.03485863
109Bile secretion_Homo sapiens_hsa049760.02539495
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.01386365
111Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.00414237
112Olfactory transduction_Homo sapiens_hsa04740-0.0196216
113Gap junction_Homo sapiens_hsa04540-0.0176151
114Toxoplasmosis_Homo sapiens_hsa05145-0.0085075
115Sulfur metabolism_Homo sapiens_hsa00920-0.0038371

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