MYL1

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: Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcoplasmic reticulum calcium ion transport (GO:0070296)9.65662018
2* actin filament-based movement (GO:0030048)8.74453708
3plasma membrane repair (GO:0001778)8.28991198
4skeletal muscle fiber development (GO:0048741)7.85618071
5skeletal muscle adaptation (GO:0043501)7.70859759
6sarcomere organization (GO:0045214)7.69990036
7* striated muscle contraction (GO:0006941)7.08013269
8myotube cell development (GO:0014904)6.74662006
9myofibril assembly (GO:0030239)6.70849312
10negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.37596164
11response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.22124963
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.22059237
13response to inactivity (GO:0014854)5.71128963
14* muscle contraction (GO:0006936)5.66209151
15skeletal muscle tissue regeneration (GO:0043403)5.62301502
16actomyosin structure organization (GO:0031032)5.48163951
17regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.46099383
18cytidine metabolic process (GO:0046087)5.24699735
19cytidine catabolic process (GO:0006216)5.24699735
20cytidine deamination (GO:0009972)5.24699735
21pyrimidine ribonucleoside catabolic process (GO:0046133)5.24478225
22regulation of cell communication by electrical coupling (GO:0010649)5.23946966
23regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.22536962
24muscle fiber development (GO:0048747)5.21169226
25glycogen catabolic process (GO:0005980)5.10777494
26* muscle system process (GO:0003012)5.07365508
27negative regulation of potassium ion transmembrane transport (GO:1901380)4.99932744
28striated muscle atrophy (GO:0014891)4.99391638
29response to muscle activity (GO:0014850)4.93553768
30cardiac myofibril assembly (GO:0055003)4.90736374
31striated muscle adaptation (GO:0014888)4.83140990
32carnitine shuttle (GO:0006853)4.82443960
33glucan catabolic process (GO:0009251)4.77377331
34creatine metabolic process (GO:0006600)4.75121016
35regulation of relaxation of muscle (GO:1901077)4.70397624
36muscle cell cellular homeostasis (GO:0046716)4.61303320
37cellular polysaccharide catabolic process (GO:0044247)4.46969416
38* cardiac muscle contraction (GO:0060048)4.42175033
39glycogen biosynthetic process (GO:0005978)4.41699163
40glucan biosynthetic process (GO:0009250)4.41699163
41NADH metabolic process (GO:0006734)4.34513424
42polysaccharide catabolic process (GO:0000272)4.33442540
43striated muscle cell development (GO:0055002)4.33390615
44muscle atrophy (GO:0014889)4.31319899
45regulation of skeletal muscle cell differentiation (GO:2001014)4.26966090
46positive regulation of myotube differentiation (GO:0010831)4.25159226
47myoblast fusion (GO:0007520)4.18781349
48regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.18462366
49negative regulation of muscle hypertrophy (GO:0014741)4.15273467
50purine nucleotide salvage (GO:0032261)4.12916114
51cardiac muscle cell development (GO:0055013)4.12297820
52positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.10485124
53heart process (GO:0003015)4.07006117
54heart contraction (GO:0060047)4.07006117
55muscle organ development (GO:0007517)4.05559467
56fatty acid transmembrane transport (GO:1902001)4.05354629
57regulation of striated muscle contraction (GO:0006942)4.00463344
58muscle structure development (GO:0061061)3.99803215
59skeletal muscle tissue development (GO:0007519)3.96377389
60regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.96318023
61muscle adaptation (GO:0043500)3.90012888
62cardiac cell development (GO:0055006)3.86554399
63regulation of acyl-CoA biosynthetic process (GO:0050812)3.79704048
64muscle hypertrophy (GO:0014896)3.78808874
65muscle cell development (GO:0055001)3.74672918
66syncytium formation by plasma membrane fusion (GO:0000768)3.72311285
67muscle organ morphogenesis (GO:0048644)3.70224732
68glycogen metabolic process (GO:0005977)3.69002119
69fructose metabolic process (GO:0006000)3.68503052
70tricarboxylic acid cycle (GO:0006099)3.68273652
71striated muscle tissue development (GO:0014706)3.67241368
72negative regulation of skeletal muscle tissue development (GO:0048642)3.67172423
73regulation of sarcomere organization (GO:0060297)3.67007606
74syncytium formation (GO:0006949)3.66683961
75IMP metabolic process (GO:0046040)3.65241466
76myotube differentiation (GO:0014902)3.63553220
77cellular glucan metabolic process (GO:0006073)3.61394487
78glucan metabolic process (GO:0044042)3.61394487
79muscle cell fate commitment (GO:0042693)3.61168124
80negative regulation of calcium ion transmembrane transport (GO:1903170)3.58664710
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.58664710
82positive regulation of myoblast differentiation (GO:0045663)3.58509746
83gluconeogenesis (GO:0006094)3.58481939
84negative regulation of protein localization to cell surface (GO:2000009)3.57921292
85muscle tissue morphogenesis (GO:0060415)3.56239393
86regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.52919169
87positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.52151335
88cardiac muscle tissue morphogenesis (GO:0055008)3.52036879
89striated muscle hypertrophy (GO:0014897)3.51880022
90carnitine transmembrane transport (GO:1902603)3.49819391
91regulation of coenzyme metabolic process (GO:0051196)3.48550602
92regulation of cofactor metabolic process (GO:0051193)3.48550602
932-oxoglutarate metabolic process (GO:0006103)3.48002078
94regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.43225147
95negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.41152994
96cardiac muscle hypertrophy (GO:0003300)3.40434985
97adult heart development (GO:0007512)3.40170437
98regulation of actin filament-based movement (GO:1903115)3.39100606
99negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.34817551
100regulation of calcium ion transmembrane transport (GO:1903169)3.34081915
101regulation of calcium ion transmembrane transporter activity (GO:1901019)3.34081915
102regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.33637998
103regulation of myoblast differentiation (GO:0045661)3.32935199
104regulation of myotube differentiation (GO:0010830)3.31173221
105negative regulation of muscle contraction (GO:0045932)3.26397660
106regulation of skeletal muscle fiber development (GO:0048742)3.23823103
107muscle tissue development (GO:0060537)3.21180212
108regulation of muscle contraction (GO:0006937)3.20353596
109regulation of muscle system process (GO:0090257)3.19676560
110hexose biosynthetic process (GO:0019319)3.19477390
111response to activity (GO:0014823)3.18404898
112amino-acid betaine transport (GO:0015838)3.17240580
113carnitine transport (GO:0015879)3.17240580
114regulation of membrane repolarization (GO:0060306)3.16874511
115* muscle filament sliding (GO:0030049)14.3172005
116* actin-myosin filament sliding (GO:0033275)14.3172005
117regulation of skeletal muscle contraction (GO:0014819)11.8598330
118* actin-mediated cell contraction (GO:0070252)11.7899454
119skeletal muscle contraction (GO:0003009)11.3010868

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.80637049
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.93305549
3EZH2_22144423_ChIP-Seq_EOC_Human4.69233043
4ESR1_20079471_ChIP-ChIP_T-47D_Human4.07760183
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.28967118
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.22449051
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.21097510
8TP63_17297297_ChIP-ChIP_HaCaT_Human3.02960969
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.87523875
10TBX20_22080862_ChIP-Seq_HEART_Mouse2.83782763
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.83782763
12EP300_21415370_ChIP-Seq_HL-1_Mouse2.59070350
13MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.47166590
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.44707405
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.43860433
16ZNF263_19887448_ChIP-Seq_K562_Human2.24081160
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18030369
18BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.12750290
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.05609479
20ESR1_21235772_ChIP-Seq_MCF-7_Human2.05497393
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.99433513
22ZNF274_21170338_ChIP-Seq_K562_Hela1.98837740
23BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.77064679
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.76619642
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73041463
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71796930
27PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.69420219
28CLOCK_20551151_ChIP-Seq_293T_Human1.65952211
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.62243853
30CTCF_27219007_Chip-Seq_Bcells_Human1.59559027
31SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.58626873
32HIF1A_21447827_ChIP-Seq_MCF-7_Human1.56893760
33RBPJ_22232070_ChIP-Seq_NCS_Mouse1.56170196
34RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50809906
35* GATA4_21415370_ChIP-Seq_HL-1_Mouse1.47749590
36EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.47234376
37RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.42572455
38CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42497985
39IGF1R_20145208_ChIP-Seq_DFB_Human1.41770283
40EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.38806072
41ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38429940
42CTCF_21964334_ChIP-Seq_BJAB-B_Human1.37177118
43NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.37134013
44P63_26484246_Chip-Seq_KERATINOCYTES_Human1.32639114
45DROSHA_22980978_ChIP-Seq_HELA_Human1.22901045
46TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22723627
47FOXH1_21741376_ChIP-Seq_ESCs_Human1.20201468
48* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.19485509
49CJUN_26792858_Chip-Seq_BT549_Human1.19305864
50SMC1_22415368_ChIP-Seq_MEFs_Mouse1.17026590
51NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.15848076
52SMC3_22415368_ChIP-Seq_MEFs_Mouse1.14568338
53OCT4_20526341_ChIP-Seq_ESCs_Human1.14120796
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.12667929
55* CRX_20693478_ChIP-Seq_RETINA_Mouse1.12488201
56ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.11192077
57TDRD3_21172665_ChIP-Seq_MCF-7_Human1.09721664
58UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.08595018
59* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08400679
60RACK7_27058665_Chip-Seq_MCF-7_Human1.07922302
61AR_21572438_ChIP-Seq_LNCaP_Human1.07222667
62ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04939464
63YY1_22570637_ChIP-Seq_MALME-3M_Human1.04811084
64CTCF_21964334_Chip-Seq_Bcells_Human1.04557700
65TP53_20018659_ChIP-ChIP_R1E_Mouse1.04392930
66SA1_27219007_Chip-Seq_Bcells_Human1.04019643
67PPARA_22158963_ChIP-Seq_LIVER_Mouse1.03335852
68TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02309634
69KDM2B_26808549_Chip-Seq_DND41_Human1.02174746
70DNAJC2_21179169_ChIP-ChIP_NT2_Human1.01791017
71* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01088268
72EZH2_27294783_Chip-Seq_ESCs_Mouse1.00494135
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00392339
74GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.99739847
75GBX2_23144817_ChIP-Seq_PC3_Human0.97243480
76RARB_27405468_Chip-Seq_BRAIN_Mouse0.96921339
77* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96778294
78* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.96542985
79* EZH2_27294783_Chip-Seq_NPCs_Mouse0.96354622
80GATA1_22025678_ChIP-Seq_K562_Human0.96305200
81NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95273724
82NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95273724
83ATF3_27146783_Chip-Seq_COLON_Human0.94930623
84LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.94272086
85E2F1_20622854_ChIP-Seq_HELA_Human0.93685114
86EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.93202019
87KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91696394
88LXR_22292898_ChIP-Seq_THP-1_Human0.90275972
89PPAR_26484153_Chip-Seq_NCI-H1993_Human0.89854628
90TP63_22573176_ChIP-Seq_HFKS_Human0.89568464
91SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.89344024
92NANOG_20526341_ChIP-Seq_ESCs_Human0.89334007
93ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88311684
94P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.88202032
95STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.87795662
96PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.87741612
97RAC3_21632823_ChIP-Seq_H3396_Human0.87670129
98MTF2_20144788_ChIP-Seq_MESCs_Mouse0.87370853
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.86943235
100P300_27058665_Chip-Seq_ZR-75-30cells_Human0.86874047
101PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.85914598
102CEBPB_22108803_ChIP-Seq_LS180_Human0.85893135
103SPI1_20517297_ChIP-Seq_HL60_Human0.85817429
104ISL1_27105846_Chip-Seq_CPCs_Mouse0.85778705
105ELK3_25401928_ChIP-Seq_HUVEC_Human0.84277245
106MYC_27129775_Chip-Seq_CORNEA_Mouse0.83306724
107CSB_26484114_Chip-Seq_FIBROBLAST_Human0.82978137
108HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.82936415
109CTCF_27219007_Chip-Seq_ERYTHROID_Human0.81071321
110KLF5_20875108_ChIP-Seq_MESCs_Mouse0.80670808
111ELF1_20517297_ChIP-Seq_JURKAT_Human0.80341704
112NFIB_24661679_ChIP-Seq_LUNG_Mouse0.80082024
113MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.79457790
114HTT_18923047_ChIP-ChIP_STHdh_Human0.79001754
115RNF2_18974828_ChIP-Seq_MESCs_Mouse0.78596951
116EZH2_18974828_ChIP-Seq_MESCs_Mouse0.78596951
117PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.78197602
118IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.77751301
119CBP_20019798_ChIP-Seq_JUKART_Human0.77751301
120* SOX2_21211035_ChIP-Seq_LN229_Gbm0.77394032
121KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.77254085
122BCL6_27268052_Chip-Seq_Bcells_Human0.76895692
123CREB1_26743006_Chip-Seq_LNCaP_Human0.76833996
124NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.76211243
125WT1_19549856_ChIP-ChIP_CCG9911_Human0.76165843
126ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.75953391
127SMAD3_21741376_ChIP-Seq_HESCs_Human0.75801448
128GATA6_21074721_ChIP-Seq_CACO-2_Human0.75790804
129RXR_22158963_ChIP-Seq_LIVER_Mouse0.75239467
130STAT1_20625510_ChIP-Seq_HELA_Human0.74939992
131AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.74501272
132EZH2_27304074_Chip-Seq_ESCs_Mouse0.74385553
133RAD21_21589869_ChIP-Seq_MESCs_Mouse0.73857711
134PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.72972027
135GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.72541628
136GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.72467588
137NR3C1_23031785_ChIP-Seq_PC12_Mouse0.71768421
138GATA1_19941827_ChIP-Seq_MEL_Mouse0.71679342
139CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.69689229
140LXR_22158963_ChIP-Seq_LIVER_Mouse0.69208204
141JARID2_20075857_ChIP-Seq_MESCs_Mouse0.68965543
142SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.68690351
143SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.68237026
144ER_23166858_ChIP-Seq_MCF-7_Human0.67835361

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration7.02932753
2MP0004145_abnormal_muscle_electrophysio6.96087951
3MP0000751_myopathy5.85513741
4MP0003646_muscle_fatigue5.21778310
5MP0000747_muscle_weakness4.52924745
6MP0002106_abnormal_muscle_physiology4.17146483
7MP0004036_abnormal_muscle_relaxation4.08244934
8MP0002837_dystrophic_cardiac_calcinosis4.01308410
9* MP0000759_abnormal_skeletal_muscle3.64594094
10* MP0004087_abnormal_muscle_fiber3.59240746
11MP0002269_muscular_atrophy3.51612794
12MP0005369_muscle_phenotype3.47100178
13MP0000750_abnormal_muscle_regeneration3.42827434
14* MP0005620_abnormal_muscle_contractility3.04325787
15MP0004084_abnormal_cardiac_muscle2.79662430
16MP0004130_abnormal_muscle_cell2.66710085
17MP0000733_abnormal_muscle_development2.52515574
18MP0005330_cardiomyopathy2.41999409
19MP0004233_abnormal_muscle_weight2.37402504
20MP0002108_abnormal_muscle_morphology1.96555054
21MP0002332_abnormal_exercise_endurance1.94938808
22MP0002972_abnormal_cardiac_muscle1.87030911
23MP0003950_abnormal_plasma_membrane1.86692875
24MP0004215_abnormal_myocardial_fiber1.85917594
25MP0010630_abnormal_cardiac_muscle1.62617950
26MP0005275_abnormal_skin_tensile1.54710425
27MP0004270_analgesia1.51683920
28MP0004484_altered_response_of1.51679317
29* MP0006036_abnormal_mitochondrial_physio1.43583933
30MP0003221_abnormal_cardiomyocyte_apopto1.37886759
31MP0002971_abnormal_brown_adipose1.30548469
32MP0004185_abnormal_adipocyte_glucose1.28420214
33MP0001544_abnormal_cardiovascular_syste1.19506639
34MP0005385_cardiovascular_system_phenoty1.19506639
35MP0002822_catalepsy1.11212311
36MP0005666_abnormal_adipose_tissue1.09403124
37MP0000013_abnormal_adipose_tissue1.03461901
38MP0001661_extended_life_span1.01106301
39MP0008775_abnormal_heart_ventricle1.00879620
40MP0003705_abnormal_hypodermis_morpholog0.99768500
41MP0003137_abnormal_impulse_conducting0.99548830
42MP0005266_abnormal_metabolism0.95949623
43MP0006138_congestive_heart_failure0.95148783
44MP0003806_abnormal_nucleotide_metabolis0.94734630
45MP0006035_abnormal_mitochondrial_morpho0.88791581
46MP0005451_abnormal_body_composition0.87392832
47MP0000762_abnormal_tongue_morphology0.85992557
48MP0004510_myositis0.85627101
49MP0002234_abnormal_pharynx_morphology0.84224650
50MP0002127_abnormal_cardiovascular_syste0.83147260
51MP0005503_abnormal_tendon_morphology0.83058382
52MP0005375_adipose_tissue_phenotype0.82681963
53MP0000372_irregular_coat_pigmentation0.82352415
54MP0004134_abnormal_chest_morphology0.82213243
55MP0008438_abnormal_cutaneous_collagen0.78570110
56MP0009250_abnormal_appendicular_skeleto0.76870262
57MP0009780_abnormal_chondrocyte_physiolo0.68832643
58MP0003828_pulmonary_edema0.68174296
59MP0000266_abnormal_heart_morphology0.67397703
60MP0010030_abnormal_orbit_morphology0.66998043
61MP0001299_abnormal_eye_distance/0.65516352
62MP0004085_abnormal_heartbeat0.65457022
63MP0003567_abnormal_fetal_cardiomyocyte0.60532875
64MP0005670_abnormal_white_adipose0.56549654
65MP0003879_abnormal_hair_cell0.54512049
66MP0002796_impaired_skin_barrier0.51522439
67MP0000343_altered_response_to0.49587916
68MP0000003_abnormal_adipose_tissue0.48272559
69MP0009672_abnormal_birth_weight0.44897895
70MP0003385_abnormal_body_wall0.44273265
71MP0002114_abnormal_axial_skeleton0.43074603
72MP0003656_abnormal_erythrocyte_physiolo0.42740501
73MP0003941_abnormal_skin_development0.42674737
74MP0002078_abnormal_glucose_homeostasis0.41731513
75MP0002734_abnormal_mechanical_nocicepti0.41653266
76MP0003948_abnormal_gas_homeostasis0.40657590
77MP0005452_abnormal_adipose_tissue0.40522869
78MP0004142_abnormal_muscle_tone0.40285338
79MP0000579_abnormal_nail_morphology0.39676345
80MP0004043_abnormal_pH_regulation0.39147962
81MP0005334_abnormal_fat_pad0.38212266
82MP0008569_lethality_at_weaning0.37600909
83MP0008961_abnormal_basal_metabolism0.37545837
84MP0004147_increased_porphyrin_level0.36623150
85MP0002249_abnormal_larynx_morphology0.36419079
86MP0001243_abnormal_dermal_layer0.35646111
87MP0005166_decreased_susceptibility_to0.35339902
88MP0001346_abnormal_lacrimal_gland0.34750174
89MP0002896_abnormal_bone_mineralization0.34665726
90MP0002128_abnormal_blood_circulation0.34628965
91MP0004272_abnormal_basement_membrane0.34614848
92MP0003566_abnormal_cell_adhesion0.33363389
93MP0005083_abnormal_biliary_tract0.32905016
94MP0005376_homeostasis/metabolism_phenot0.31756907
95MP0006276_abnormal_autonomic_nervous0.30699253
96MP0005584_abnormal_enzyme/coenzyme_acti0.30273956
97MP0005167_abnormal_blood-brain_barrier0.30257576
98MP0003959_abnormal_lean_body0.30190199
99MP0005319_abnormal_enzyme/_coenzyme0.29074622
100MP0005165_increased_susceptibility_to0.28910630
101MP0002089_abnormal_postnatal_growth/wei0.28879484
102MP0002638_abnormal_pupillary_reflex0.28587061
103MP0005423_abnormal_somatic_nervous0.27239881
104MP0000230_abnormal_systemic_arterial0.27142101
105MP0005535_abnormal_body_temperature0.26239097
106MP0001943_abnormal_respiration0.24780839
107MP0004197_abnormal_fetal_growth/weight/0.24755279
108MP0009384_cardiac_valve_regurgitation0.24606610
109MP0001849_ear_inflammation0.24605875
110MP0002933_joint_inflammation0.24256856
111MP0002060_abnormal_skin_morphology0.24138132
112MP0003279_aneurysm0.23749689
113MP0001784_abnormal_fluid_regulation0.22871699
114MP0005187_abnormal_penis_morphology0.22818563
115MP0003011_delayed_dark_adaptation0.22760977
116MP0000767_abnormal_smooth_muscle0.22532182
117MP0005501_abnormal_skin_physiology0.22279589
118MP0003045_fibrosis0.21696010
119MP0001542_abnormal_bone_strength0.20250901
120MP0009115_abnormal_fat_cell0.19615288
121MP0000534_abnormal_ureter_morphology0.19580125
122MP0002925_abnormal_cardiovascular_devel0.19277587
123MP0004858_abnormal_nervous_system0.18776612

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.53017075
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.42670226
3Nemaline bodies (HP:0003798)9.19900006
4Distal arthrogryposis (HP:0005684)8.02724995
5Exercise-induced myalgia (HP:0003738)8.01387760
6Type 1 muscle fiber predominance (HP:0003803)7.90621081
7Exercise-induced muscle cramps (HP:0003710)7.43663817
8Round ear (HP:0100830)6.41688043
9Muscle hypertrophy of the lower extremities (HP:0008968)6.35450931
10Myopathic facies (HP:0002058)6.26283395
11Ulnar deviation of the wrist (HP:0003049)6.16983042
12Calf muscle hypertrophy (HP:0008981)6.08834720
13Calcaneovalgus deformity (HP:0001848)5.31005041
14Deformed tarsal bones (HP:0008119)4.96509173
15Hyporeflexia of lower limbs (HP:0002600)4.94861455
16Difficulty running (HP:0009046)4.88407801
17Muscle fiber splitting (HP:0003555)4.85962635
18Absent phalangeal crease (HP:0006109)4.81712001
19EMG: myopathic abnormalities (HP:0003458)4.64967280
20Myoglobinuria (HP:0002913)4.58757375
21Abnormality of the calf musculature (HP:0001430)4.44423486
22Malignant hyperthermia (HP:0002047)4.04963894
23Increased connective tissue (HP:0009025)4.04176405
24Abnormal finger flexion creases (HP:0006143)4.01331939
25Abnormality of skeletal muscle fiber size (HP:0012084)3.92072948
26Neck muscle weakness (HP:0000467)3.82294795
27Rhabdomyolysis (HP:0003201)3.81819679
28Muscle stiffness (HP:0003552)3.77108187
29Fetal akinesia sequence (HP:0001989)3.59223662
30Myotonia (HP:0002486)3.52748201
31Subaortic stenosis (HP:0001682)3.49040987
32Abnormality of the left ventricular outflow tract (HP:0011103)3.49040987
33Increased variability in muscle fiber diameter (HP:0003557)3.35112905
34Difficulty climbing stairs (HP:0003551)3.23667315
35Abnormality of the calcaneus (HP:0008364)3.21442634
36Frequent falls (HP:0002359)3.18113417
37Sudden death (HP:0001699)3.17337198
38Slender build (HP:0001533)3.08971748
39Abnormality of the neuromuscular junction (HP:0003398)3.03785389
40Fatigable weakness (HP:0003473)3.03785389
41Rimmed vacuoles (HP:0003805)3.03569166
42Areflexia of lower limbs (HP:0002522)2.88915107
43Centrally nucleated skeletal muscle fibers (HP:0003687)2.83778742
44Bulbar palsy (HP:0001283)2.81158987
45Mildly elevated creatine phosphokinase (HP:0008180)2.79797313
46Weak cry (HP:0001612)2.72249222
47Generalized muscle weakness (HP:0003324)2.71174979
48EMG: neuropathic changes (HP:0003445)2.70692257
49Distal lower limb muscle weakness (HP:0009053)2.69190247
50Asymmetric septal hypertrophy (HP:0001670)2.64709428
51Shoulder girdle muscle weakness (HP:0003547)2.63297462
52Pelvic girdle muscle weakness (HP:0003749)2.62699912
53Gowers sign (HP:0003391)2.59872288
54Abnormality of the hip-girdle musculature (HP:0001445)2.56261502
55Abnormality of the musculature of the pelvis (HP:0001469)2.56261502
56Bundle branch block (HP:0011710)2.55658132
57Popliteal pterygium (HP:0009756)2.44921123
58Spinal rigidity (HP:0003306)2.40292165
59Metatarsus adductus (HP:0001840)2.34002582
60Scapular winging (HP:0003691)2.26539758
61Type 2 muscle fiber atrophy (HP:0003554)2.21024352
62Hip contracture (HP:0003273)2.18517153
63Abnormality of placental membranes (HP:0011409)2.16964843
64Amniotic constriction ring (HP:0009775)2.16964843
65Hyperkalemia (HP:0002153)2.14771021
66Aplasia of the musculature (HP:0100854)2.14281450
67Muscular dystrophy (HP:0003560)2.12743217
68Abnormality of the shoulder girdle musculature (HP:0001435)2.10747385
69Ulnar deviation of finger (HP:0009465)2.07358218
70Proximal amyotrophy (HP:0007126)2.05784473
71Facial diplegia (HP:0001349)2.05651998
72Ventricular tachycardia (HP:0004756)2.02438756
73Nonprogressive disorder (HP:0003680)1.99062505
74Hypoplastic ischia (HP:0003175)1.98114168
75Muscle fiber atrophy (HP:0100295)1.97249776
76Limb-girdle muscle weakness (HP:0003325)1.95355486
77Limb-girdle muscle atrophy (HP:0003797)1.94805337
78Paralysis (HP:0003470)1.92649260
79Respiratory insufficiency due to muscle weakness (HP:0002747)1.92092480
80Lipoatrophy (HP:0100578)1.91628644
81Long clavicles (HP:0000890)1.87983319
82Distal lower limb amyotrophy (HP:0008944)1.80610200
83Waddling gait (HP:0002515)1.80240673
84Dilated cardiomyopathy (HP:0001644)1.77920343
85Progressive muscle weakness (HP:0003323)1.77533590
86Tarsal synostosis (HP:0008368)1.77463434
87Right ventricular cardiomyopathy (HP:0011663)1.76316438
88Lower limb amyotrophy (HP:0007210)1.76006684
89Abnormality of the foot musculature (HP:0001436)1.75174433
90Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.72134607
91Abnormality of the ischium (HP:0003174)1.71891011
92Trismus (HP:0000211)1.67017686
93Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.65087973
94Foot dorsiflexor weakness (HP:0009027)1.64942861
95Heart block (HP:0012722)1.61435982
96Easy fatigability (HP:0003388)1.61299139
97Synostosis involving bones of the feet (HP:0009140)1.60302189
98Synostosis involving bones of the lower limbs (HP:0009138)1.60302189
99Increased density of long bones (HP:0006392)1.59585959
100Breech presentation (HP:0001623)1.57738862
101Symphalangism affecting the phalanges of the hand (HP:0009773)1.54532199
102Hypoplastic heart (HP:0001961)1.53304663
103Abnormal atrioventricular conduction (HP:0005150)1.53119619
104Exercise intolerance (HP:0003546)1.51776733
105Adducted thumb (HP:0001181)1.49233729
106Limited hip movement (HP:0008800)1.49014358
107Congenital hip dislocation (HP:0001374)1.45917570
108Thin ribs (HP:0000883)1.45558290
109Akinesia (HP:0002304)1.42552058
110Webbed neck (HP:0000465)1.42052828

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.60601201
2TTN5.56712053
3PHKG14.71465099
4PHKG24.71465099
5PIK3CG4.51436323
6NME13.47544696
7MAP2K32.44242664
8TRIB32.29652638
9MUSK2.10475798
10NEK12.10295137
11PIK3CA2.00924430
12MAP3K71.89320839
13DMPK1.81681779
14PDK31.79557110
15PDK41.79557110
16PINK11.67376227
17ZAK1.61651008
18MAPK121.50271182
19PKN21.42268990
20STK241.31916484
21CCNB11.30229791
22BCKDK1.26157535
23MAP2K41.23372009
24LIMK11.16987835
25PDK21.11236560
26MAP2K61.07207274
27MARK11.01591818
28MAPKAPK30.98163604
29MYLK0.98085700
30MAP3K30.97366434
31TRPM70.91597518
32ILK0.86000666
33MAP3K130.78101988
34NEK90.75068326
35PRKAA20.74537191
36PRKAA10.73299412
37MOS0.68723461
38MAP3K100.67841465
39AKT20.66664811
40CAMK2G0.61245347
41STK38L0.59777785
42RIPK10.58688186
43MAPK110.56601467
44ROCK10.51843946
45SIK10.50839245
46CAMK40.50380342
47MAP3K50.48316728
48EPHB10.45292498
49TAOK20.44585162
50MAP2K10.44564391
51LATS20.44286006
52ERBB30.43711746
53MAP3K110.43496726
54PRKG10.40507117
55SGK30.39010764
56CAMK2B0.38330814
57LATS10.37377605
58PTK60.35140110
59ARAF0.35026361
60PRKACB0.34382812
61CAMK10.34164488
62TAOK10.30263207
63ROCK20.29621556
64RPS6KB10.28334929
65CDK190.28270446
66SGK10.28155021
67SGK20.27561224
68MAPK130.27192892
69PKN10.26440430
70FLT30.26017358
71RPS6KA30.26006891
72PRKACA0.23435212
73PRKD10.23182404
74TBK10.23016210
75FGFR10.21859006
76PTK2B0.21556762
77INSRR0.20826146
78MARK20.20100467
79MAPK70.19958126
80DYRK1B0.17679623
81FER0.16913881
82MAPK40.16323641
83LRRK20.16312655
84MAP3K90.16251389
85CAMK2D0.16083899
86KSR20.15778358
87MAP3K60.15163083
88RAF10.14998115
89DAPK30.14139597
90TIE10.13688667
91DAPK20.13045180
92DDR20.12466399
93EEF2K0.10843392
94PDPK10.10552372
95PIM20.10188206
96ICK0.10034602
97CDC42BPA0.09781605
98PAK20.09744895
99SGK4940.08850795
100SGK2230.08850795
101PRKG20.08305994
102PDK10.08149329
103NLK0.07939379
104STK30.07596527
105MAP3K10.07399773
106CAMK2A0.07397869
107RPS6KA10.06791616
108TGFBR20.06760631
109PRPF4B0.06555378
110PDGFRA0.06192705
111PAK30.06187973
112BRAF0.06123434
113EPHB20.05740383
114MTOR0.05642974
115RPS6KL10.05613145
116RPS6KC10.05613145
117PAK60.05447955
118STK110.05170788
119KSR10.04441603
120ZAP700.04137845
121PRKACG0.04052562
122MAPKAPK20.03220644
123CSNK1D0.02803682
124MAPK100.02381474
125ERN10.02187524
126RPS6KA60.02128095
127EPHA30.02039425
128RPS6KB20.01710239
129MST1R0.01506496
130GSK3B0.00957711
131MAPK90.00924842

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.80416963
2Cardiac muscle contraction_Homo sapiens_hsa042604.74065275
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.34535350
4Dilated cardiomyopathy_Homo sapiens_hsa054144.12027225
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.88723411
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.92241817
7Starch and sucrose metabolism_Homo sapiens_hsa005002.57547592
8Parkinsons disease_Homo sapiens_hsa050122.49573085
9Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.39842814
10Carbon metabolism_Homo sapiens_hsa012002.27638891
11Oxidative phosphorylation_Homo sapiens_hsa001902.23236578
12Alzheimers disease_Homo sapiens_hsa050102.11401985
13Glucagon signaling pathway_Homo sapiens_hsa049222.05779212
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.04631603
15Propanoate metabolism_Homo sapiens_hsa006401.97138076
16Oxytocin signaling pathway_Homo sapiens_hsa049211.96710747
17Insulin signaling pathway_Homo sapiens_hsa049101.90472403
18Tight junction_Homo sapiens_hsa045301.85728990
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.84238334
20Galactose metabolism_Homo sapiens_hsa000521.71375528
21Insulin resistance_Homo sapiens_hsa049311.68294925
22Biosynthesis of amino acids_Homo sapiens_hsa012301.63104774
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.59372451
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.52577926
25Circadian rhythm_Homo sapiens_hsa047101.51743286
26Fructose and mannose metabolism_Homo sapiens_hsa000511.45822339
27Calcium signaling pathway_Homo sapiens_hsa040201.38980538
28Viral myocarditis_Homo sapiens_hsa054161.33746254
29Adipocytokine signaling pathway_Homo sapiens_hsa049201.32303083
30Huntingtons disease_Homo sapiens_hsa050161.31421150
31Pyruvate metabolism_Homo sapiens_hsa006201.31176377
32AMPK signaling pathway_Homo sapiens_hsa041521.30055055
33Focal adhesion_Homo sapiens_hsa045101.29429321
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27242195
35Central carbon metabolism in cancer_Homo sapiens_hsa052301.21415734
36Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.19717856
37Fatty acid degradation_Homo sapiens_hsa000711.18433271
38Vascular smooth muscle contraction_Homo sapiens_hsa042701.16057879
39Nitrogen metabolism_Homo sapiens_hsa009101.13181333
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.08758926
41HIF-1 signaling pathway_Homo sapiens_hsa040661.00326902
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97697041
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94935785
44Pentose phosphate pathway_Homo sapiens_hsa000300.94091294
45Fatty acid metabolism_Homo sapiens_hsa012120.87795124
46Long-term potentiation_Homo sapiens_hsa047200.82471923
47Arginine and proline metabolism_Homo sapiens_hsa003300.80454774
48GnRH signaling pathway_Homo sapiens_hsa049120.70618461
49Leukocyte transendothelial migration_Homo sapiens_hsa046700.70228411
50FoxO signaling pathway_Homo sapiens_hsa040680.69174405
51Gastric acid secretion_Homo sapiens_hsa049710.67318142
52Proteoglycans in cancer_Homo sapiens_hsa052050.64034596
53Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63372164
54Adherens junction_Homo sapiens_hsa045200.63061464
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60502571
56Renin secretion_Homo sapiens_hsa049240.59348915
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58859589
58Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54277644
59Phenylalanine metabolism_Homo sapiens_hsa003600.51551616
60Amoebiasis_Homo sapiens_hsa051460.50666341
61MAPK signaling pathway_Homo sapiens_hsa040100.49722958
62ECM-receptor interaction_Homo sapiens_hsa045120.48453963
63mTOR signaling pathway_Homo sapiens_hsa041500.47782360
64PPAR signaling pathway_Homo sapiens_hsa033200.47350613
65Fatty acid biosynthesis_Homo sapiens_hsa000610.45956464
66VEGF signaling pathway_Homo sapiens_hsa043700.43909039
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42721098
68Glioma_Homo sapiens_hsa052140.42581796
69Insulin secretion_Homo sapiens_hsa049110.42148887
70Phototransduction_Homo sapiens_hsa047440.40274188
71Platelet activation_Homo sapiens_hsa046110.38439249
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37072768
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.36125973
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34184366
75Type II diabetes mellitus_Homo sapiens_hsa049300.33863333
76Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.33354778
77Arginine biosynthesis_Homo sapiens_hsa002200.32801150
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.32195287
79Basal cell carcinoma_Homo sapiens_hsa052170.30556948
80Tyrosine metabolism_Homo sapiens_hsa003500.30249107
81beta-Alanine metabolism_Homo sapiens_hsa004100.27210441
82Amphetamine addiction_Homo sapiens_hsa050310.27098052
83Long-term depression_Homo sapiens_hsa047300.26335641
84Melanogenesis_Homo sapiens_hsa049160.26109484
85Lysine degradation_Homo sapiens_hsa003100.26074361
86Regulation of autophagy_Homo sapiens_hsa041400.25421879
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.23853660
88Neurotrophin signaling pathway_Homo sapiens_hsa047220.23184352
89Thyroid cancer_Homo sapiens_hsa052160.22908950
90Fatty acid elongation_Homo sapiens_hsa000620.22110070
91Tryptophan metabolism_Homo sapiens_hsa003800.20920309
92Peroxisome_Homo sapiens_hsa041460.20796798
93Hippo signaling pathway_Homo sapiens_hsa043900.19652885
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19471016
95Butanoate metabolism_Homo sapiens_hsa006500.17537134
96Renal cell carcinoma_Homo sapiens_hsa052110.16008171
97Circadian entrainment_Homo sapiens_hsa047130.15377747
98Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.13153602
99Cholinergic synapse_Homo sapiens_hsa047250.13036988
100Histidine metabolism_Homo sapiens_hsa003400.13020269
101Metabolic pathways_Homo sapiens_hsa011000.11357619
102Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.11003092
103AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.10581975
104Proteasome_Homo sapiens_hsa030500.07052556
105Protein digestion and absorption_Homo sapiens_hsa049740.04336954
106Olfactory transduction_Homo sapiens_hsa047400.04274516
107Pancreatic secretion_Homo sapiens_hsa049720.03638135
108Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.03253284
109Wnt signaling pathway_Homo sapiens_hsa043100.03184697
110Salivary secretion_Homo sapiens_hsa049700.03027516
111TGF-beta signaling pathway_Homo sapiens_hsa043500.02991495
112cAMP signaling pathway_Homo sapiens_hsa040240.02865258
113Fat digestion and absorption_Homo sapiens_hsa049750.02631927
114Bile secretion_Homo sapiens_hsa049760.01941783
115Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00769916
116Hedgehog signaling pathway_Homo sapiens_hsa043400.00650964
117Sulfur metabolism_Homo sapiens_hsa009200.00348201

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