CMYA5

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)9.27097564
2muscle filament sliding (GO:0030049)9.27097564
3sarcomere organization (GO:0045214)8.74837016
4regulation of skeletal muscle contraction (GO:0014819)8.64772294
5positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.81943324
6sarcoplasmic reticulum calcium ion transport (GO:0070296)7.74994325
7actin-mediated cell contraction (GO:0070252)7.66274511
8myofibril assembly (GO:0030239)7.50630558
9negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.26049503
10cardiac myofibril assembly (GO:0055003)7.22147596
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)7.12163915
12plasma membrane repair (GO:0001778)6.91166476
13skeletal muscle contraction (GO:0003009)6.40932588
14negative regulation of potassium ion transmembrane transport (GO:1901380)6.31964344
15regulation of relaxation of muscle (GO:1901077)6.17443993
16cardiac muscle contraction (GO:0060048)6.13584954
17striated muscle contraction (GO:0006941)6.06672336
18regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.02725745
19regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.99035095
20carnitine shuttle (GO:0006853)5.95916169
21regulation of cell communication by electrical coupling (GO:0010649)5.89712518
22tricarboxylic acid cycle (GO:0006099)5.84837602
23regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.80459585
24actin filament-based movement (GO:0030048)5.75753155
25skeletal muscle adaptation (GO:0043501)5.65188145
26actomyosin structure organization (GO:0031032)5.62136742
27regulation of actin filament-based movement (GO:1903115)5.56684592
28cardiac muscle cell development (GO:0055013)5.48539697
29response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.45578710
30regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.30963714
31regulation of acyl-CoA biosynthetic process (GO:0050812)5.28503771
32fatty acid transmembrane transport (GO:1902001)5.15880138
33cardiac cell development (GO:0055006)5.14717040
34creatine metabolic process (GO:0006600)5.12377137
35regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.07835018
36cardiac muscle hypertrophy (GO:0003300)4.81884607
37regulation of cofactor metabolic process (GO:0051193)4.77711801
38regulation of coenzyme metabolic process (GO:0051196)4.77711801
39ventricular cardiac muscle cell action potential (GO:0086005)4.73592019
40regulation of striated muscle contraction (GO:0006942)4.73096800
41striated muscle hypertrophy (GO:0014897)4.72589146
42cardiac muscle tissue morphogenesis (GO:0055008)4.58243060
43regulation of sarcomere organization (GO:0060297)4.50317135
44heart contraction (GO:0060047)4.49058651
45heart process (GO:0003015)4.49058651
46muscle contraction (GO:0006936)4.46184535
47adult heart development (GO:0007512)4.44278744
48response to inactivity (GO:0014854)4.43945620
49carnitine transmembrane transport (GO:1902603)4.41368928
50regulation of membrane repolarization (GO:0060306)4.31634279
51myotube cell development (GO:0014904)4.30252612
52muscle tissue morphogenesis (GO:0060415)4.27800080
53bundle of His cell to Purkinje myocyte communication (GO:0086069)4.26585624
54glycogen catabolic process (GO:0005980)4.24437564
55muscle hypertrophy (GO:0014896)4.16433594
56striated muscle adaptation (GO:0014888)4.12631636
57positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.11772699
58muscle system process (GO:0003012)4.10241124
59response to muscle activity (GO:0014850)4.09161117
60striated muscle atrophy (GO:0014891)4.08298446
61amino-acid betaine transport (GO:0015838)4.02403903
62carnitine transport (GO:0015879)4.02403903
63heart trabecula formation (GO:0060347)3.98932942
64glucan catabolic process (GO:0009251)3.95648139
65regulation of sulfur metabolic process (GO:0042762)3.92020857
66skeletal muscle tissue development (GO:0007519)3.85957753
67striated muscle cell development (GO:0055002)3.85580917
68pyrimidine ribonucleoside catabolic process (GO:0046133)3.84065574
69muscle cell cellular homeostasis (GO:0046716)3.80600147
70ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.79943951
71cell communication involved in cardiac conduction (GO:0086065)3.78456838
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.74512068
73regulation of calcium ion transmembrane transporter activity (GO:1901019)3.74357451
74regulation of calcium ion transmembrane transport (GO:1903169)3.74357451
75muscle fiber development (GO:0048747)3.74113974
762-oxoglutarate metabolic process (GO:0006103)3.73322899
77relaxation of cardiac muscle (GO:0055119)3.72656063
78cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.70105938
79cellular polysaccharide catabolic process (GO:0044247)3.69399640
80regulation of sequestering of triglyceride (GO:0010889)3.64634076
81positive regulation of cation channel activity (GO:2001259)3.61629146
82NADH metabolic process (GO:0006734)3.61621886
83response to caffeine (GO:0031000)3.58491018
84cytidine deamination (GO:0009972)3.56039182
85cytidine metabolic process (GO:0046087)3.56039182
86cytidine catabolic process (GO:0006216)3.56039182
87cardiac muscle cell action potential (GO:0086001)3.54731481
88skeletal muscle tissue regeneration (GO:0043403)3.53347889
89negative regulation of calcium ion transmembrane transport (GO:1903170)3.52896005
90negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.52896005
91regulation of heart rate (GO:0002027)3.51241970
92polysaccharide catabolic process (GO:0000272)3.50769346
93glycogen biosynthetic process (GO:0005978)3.49925798
94glucan biosynthetic process (GO:0009250)3.49925798
95relaxation of muscle (GO:0090075)3.49843351
96cardiac muscle cell action potential involved in contraction (GO:0086002)3.49494388
97response to epinephrine (GO:0071871)3.48522618
98muscle atrophy (GO:0014889)3.47978073
99regulation of cardiac muscle contraction (GO:0055117)3.47584378
100negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.46658856
101regulation of the force of heart contraction (GO:0002026)3.46240081
102regulation of cardiac muscle cell contraction (GO:0086004)3.41062428
103muscle adaptation (GO:0043500)3.41042966
104negative regulation of potassium ion transport (GO:0043267)3.40590965
105regulation of muscle contraction (GO:0006937)3.39555887
106cardiac muscle adaptation (GO:0014887)3.37634584
107cardiac muscle hypertrophy in response to stress (GO:0014898)3.37634584
108muscle hypertrophy in response to stress (GO:0003299)3.37634584
109muscle cell development (GO:0055001)3.37620337
110skeletal muscle fiber development (GO:0048741)3.37316946
111negative regulation of protein localization to cell surface (GO:2000009)3.36088945
112* regulation of muscle system process (GO:0090257)3.33044408
113regulation of ATPase activity (GO:0043462)3.32828293
114regulation of ATP catabolic process (GO:1903289)3.32828293
115mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.32051210
116muscle structure development (GO:0061061)3.29775482
117cell communication by electrical coupling (GO:0010644)3.29094322
118muscle organ development (GO:0007517)3.28455687

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.84863912
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.67797107
3EP300_21415370_ChIP-Seq_HL-1_Mouse4.07964720
4ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.86445187
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.81258807
6* TBX20_22080862_ChIP-Seq_HEART_Mouse3.76235412
7* TBX20_22328084_ChIP-Seq_HEART_Mouse3.76235412
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.44121625
9ZNF263_19887448_ChIP-Seq_K562_Human3.07360063
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.84685652
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.66024158
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.44440154
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.35135311
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.33553069
15CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.29600185
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.17213371
17EZH2_22144423_ChIP-Seq_EOC_Human2.16471276
18GATA4_21415370_ChIP-Seq_HL-1_Mouse2.07592705
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.87108016
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.86332335
21ESR2_21235772_ChIP-Seq_MCF-7_Human1.66358480
22ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.61778738
23GBX2_23144817_ChIP-Seq_PC3_Human1.61654610
24EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.58241845
25NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.55613795
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.54125679
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.50749614
28* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47327737
29PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.47165805
30CLOCK_20551151_ChIP-Seq_293T_Human1.45966102
31BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.42838564
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.39902550
33EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.31000340
34CTCF_27219007_Chip-Seq_Bcells_Human1.30929478
35VDR_22108803_ChIP-Seq_LS180_Human1.30421763
36DROSHA_22980978_ChIP-Seq_HELA_Human1.29987911
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.21399991
38PPAR_26484153_Chip-Seq_NCI-H1993_Human1.20640908
39KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19776053
40PPARA_22158963_ChIP-Seq_LIVER_Mouse1.17391466
41* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.16971907
42ESR1_21235772_ChIP-Seq_MCF-7_Human1.16743577
43ZNF274_21170338_ChIP-Seq_K562_Hela1.16225449
44STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15565804
45ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.15015381
46KDM2B_26808549_Chip-Seq_DND41_Human1.13852830
47TRIM28_21343339_ChIP-Seq_HEK293_Human1.11824306
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10793425
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10427432
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10329260
51GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.10210755
52* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.09819197
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.09274006
54LXR_22158963_ChIP-Seq_LIVER_Mouse1.09012199
55GATA1_22025678_ChIP-Seq_K562_Human1.08583447
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07797799
57TP63_22573176_ChIP-Seq_HFKS_Human1.06801748
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.04051952
59CTCF_21964334_ChIP-Seq_BJAB-B_Human1.03666061
60CJUN_26792858_Chip-Seq_BT549_Human1.03464585
61RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.02692684
62RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02636350
63FOXH1_21741376_ChIP-Seq_ESCs_Human1.01877633
64OCT4_20526341_ChIP-Seq_ESCs_Human1.01447781
65TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00641628
66EZH2_27294783_Chip-Seq_ESCs_Mouse0.99576098
67AR_21572438_ChIP-Seq_LNCaP_Human0.98786488
68NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.98757864
69SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97875661
70PCGF2_27294783_Chip-Seq_ESCs_Mouse0.97873948
71* SMAD4_21799915_ChIP-Seq_A2780_Human0.96658957
72SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95697475
73AUTS2_25519132_ChIP-Seq_293T-REX_Human0.94048957
74PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.93352276
75ATF3_27146783_Chip-Seq_COLON_Human0.93187040
76CRX_20693478_ChIP-Seq_RETINA_Mouse0.93015692
77RUNX1_27514584_Chip-Seq_MCF-7_Human0.92992276
78FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.92694764
79NR3C1_23031785_ChIP-Seq_PC12_Mouse0.92635845
80GATA2_21666600_ChIP-Seq_HMVEC_Human0.91605092
81SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.91472828
82KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91001789
83RACK7_27058665_Chip-Seq_MCF-7_Human0.90895254
84OCT4_21477851_ChIP-Seq_ESCs_Mouse0.89681749
85CBX2_27304074_Chip-Seq_ESCs_Mouse0.89535003
86CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88885531
87CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.88527747
88ISL1_27105846_Chip-Seq_CPCs_Mouse0.88284848
89* SOX2_21211035_ChIP-Seq_LN229_Gbm0.88165949
90GATA1_19941826_ChIP-Seq_K562_Human0.87396414
91P68_20966046_ChIP-Seq_HELA_Human0.87210464
92FOXA2_19822575_ChIP-Seq_HepG2_Human0.86729492
93RARB_27405468_Chip-Seq_BRAIN_Mouse0.86678818
94WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86311256
95SMC1_22415368_ChIP-Seq_MEFs_Mouse0.86303947
96IGF1R_20145208_ChIP-Seq_DFB_Human0.86236454
97NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86236198
98* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.85976132
99TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85759486
100RXR_22158963_ChIP-Seq_LIVER_Mouse0.85728884
101CTCF_21964334_Chip-Seq_Bcells_Human0.85388039
102SPI1_20517297_ChIP-Seq_HL60_Human0.85203383
103SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85170196
104MTF2_20144788_ChIP-Seq_MESCs_Mouse0.85094426
105FLI1_27457419_Chip-Seq_LIVER_Mouse0.84005213
106BCAT_22108803_ChIP-Seq_LS180_Human0.83838674
107* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.83185214
108PCGF2_27294783_Chip-Seq_NPCs_Mouse0.82875333
109LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82413614
110GF1_26923725_Chip-Seq_HPCs_Mouse0.81723074
111ZNF217_24962896_ChIP-Seq_MCF-7_Human0.81648303
112DNAJC2_21179169_ChIP-ChIP_NT2_Human0.80778233
113UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.80539635
114YAP1_20516196_ChIP-Seq_MESCs_Mouse0.79560887
115SMAD3_21741376_ChIP-Seq_HESCs_Human0.79439036
116SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.79403774
117WT1_19549856_ChIP-ChIP_CCG9911_Human0.79253411
118PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.79229917
119TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78914796
120ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78895324
121RNF2_18974828_ChIP-Seq_MESCs_Mouse0.78782138
122EZH2_18974828_ChIP-Seq_MESCs_Mouse0.78782138
123SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.78610373
124EZH2_27304074_Chip-Seq_ESCs_Mouse0.78508731
125LXR_22292898_ChIP-Seq_THP-1_Human0.78407958
126TDRD3_21172665_ChIP-Seq_MCF-7_Human0.78068503
127NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.77953985
128NRF2_20460467_ChIP-Seq_MEFs_Mouse0.77953985
129SMAD_19615063_ChIP-ChIP_OVARY_Human0.77295000
130POU3F2_20337985_ChIP-ChIP_501MEL_Human0.76994401
131SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76941119
132TCF4_23295773_ChIP-Seq_U87_Human0.76706330
133EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.76255947
134TBL1_22424771_ChIP-Seq_293T_Human0.76099470
135CREB1_26743006_Chip-Seq_LNCaP_Human0.75296277
136SMAD4_21741376_ChIP-Seq_HESCs_Human0.74969535
137ER_23166858_ChIP-Seq_MCF-7_Human0.74844219
138* GATA2_19941826_ChIP-Seq_K562_Human0.74754344
139GATA1_19941827_ChIP-Seq_MEL_Mouse0.74058078
140* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73277593
141ELK3_25401928_ChIP-Seq_HUVEC_Human0.73137839
142ZFP281_18757296_ChIP-ChIP_E14_Mouse0.71827468
143TP53_23651856_ChIP-Seq_MEFs_Mouse0.70773674
144STAT6_21828071_ChIP-Seq_BEAS2B_Human0.70367786
145SA1_27219007_Chip-Seq_Bcells_Human0.70220374

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.55857539
2MP0002837_dystrophic_cardiac_calcinosis6.04692752
3MP0000751_myopathy5.62271758
4MP0000749_muscle_degeneration4.96026904
5MP0004145_abnormal_muscle_electrophysio4.51569724
6MP0004084_abnormal_cardiac_muscle4.46977618
7MP0004036_abnormal_muscle_relaxation4.32450601
8MP0004215_abnormal_myocardial_fiber3.94703924
9MP0004087_abnormal_muscle_fiber3.37753870
10MP0005330_cardiomyopathy3.36379846
11MP0002106_abnormal_muscle_physiology3.31112140
12MP0004130_abnormal_muscle_cell3.11939341
13MP0000750_abnormal_muscle_regeneration3.07370453
14MP0005620_abnormal_muscle_contractility2.99598437
15MP0000747_muscle_weakness2.98431908
16MP0002269_muscular_atrophy2.88934177
17MP0000759_abnormal_skeletal_muscle2.73959223
18MP0005369_muscle_phenotype2.71307899
19MP0002972_abnormal_cardiac_muscle2.60627492
20MP0004484_altered_response_of2.35417398
21MP0008775_abnormal_heart_ventricle2.26148837
22MP0003137_abnormal_impulse_conducting2.24273426
23MP0010630_abnormal_cardiac_muscle2.22317308
24MP0001544_abnormal_cardiovascular_syste2.10271027
25MP0005385_cardiovascular_system_phenoty2.10271027
26MP0004233_abnormal_muscle_weight2.03747120
27MP0006036_abnormal_mitochondrial_physio1.82658050
28MP0004510_myositis1.80505319
29MP0002332_abnormal_exercise_endurance1.79985027
30MP0003221_abnormal_cardiomyocyte_apopto1.77265529
31MP0006138_congestive_heart_failure1.73977618
32MP0005666_abnormal_adipose_tissue1.58303696
33MP0004085_abnormal_heartbeat1.54041426
34MP0003828_pulmonary_edema1.53333475
35MP0003950_abnormal_plasma_membrane1.44617271
36MP0004185_abnormal_adipocyte_glucose1.40432933
37MP0001661_extended_life_span1.36293117
38MP0002108_abnormal_muscle_morphology1.35473829
39MP0002127_abnormal_cardiovascular_syste1.33430618
40MP0000733_abnormal_muscle_development1.29874784
41MP0005670_abnormal_white_adipose1.26133508
42MP0005375_adipose_tissue_phenotype1.10106094
43MP0000343_altered_response_to1.05393236
44MP0006035_abnormal_mitochondrial_morpho1.01847364
45MP0000266_abnormal_heart_morphology0.96971251
46MP0002234_abnormal_pharynx_morphology0.94802104
47MP0005266_abnormal_metabolism0.91345862
48MP0003567_abnormal_fetal_cardiomyocyte0.91180630
49MP0002971_abnormal_brown_adipose0.89402136
50MP0005165_increased_susceptibility_to0.83161202
51MP0003705_abnormal_hypodermis_morpholog0.82664228
52MP0000013_abnormal_adipose_tissue0.77230447
53MP0005275_abnormal_skin_tensile0.75041942
54MP0003806_abnormal_nucleotide_metabolis0.70849285
55MP0010368_abnormal_lymphatic_system0.69224870
56MP0000003_abnormal_adipose_tissue0.65004204
57MP0000230_abnormal_systemic_arterial0.63404270
58MP0004043_abnormal_pH_regulation0.62935442
59MP0003279_aneurysm0.61822200
60MP0002128_abnormal_blood_circulation0.60778414
61MP0004147_increased_porphyrin_level0.57244026
62MP0002078_abnormal_glucose_homeostasis0.55128529
63MP0003045_fibrosis0.54275776
64MP0008961_abnormal_basal_metabolism0.51410635
65MP0005451_abnormal_body_composition0.50623536
66MP0005187_abnormal_penis_morphology0.48183886
67MP0003566_abnormal_cell_adhesion0.47802255
68MP0000372_irregular_coat_pigmentation0.46990979
69MP0008438_abnormal_cutaneous_collagen0.46207444
70MP0005334_abnormal_fat_pad0.45791051
71MP0002909_abnormal_adrenal_gland0.42798255
72MP0002638_abnormal_pupillary_reflex0.40785654
73MP0001879_abnormal_lymphatic_vessel0.40290919
74MP0005319_abnormal_enzyme/_coenzyme0.39789216
75MP0000579_abnormal_nail_morphology0.39204792
76MP0000767_abnormal_smooth_muscle0.37162783
77MP0005623_abnormal_meninges_morphology0.35036438
78MP0005167_abnormal_blood-brain_barrier0.34364420
79MP0003879_abnormal_hair_cell0.34192182
80MP0001299_abnormal_eye_distance/0.31904134
81MP0005535_abnormal_body_temperature0.31762308
82MP0009672_abnormal_birth_weight0.31741067
83MP0002925_abnormal_cardiovascular_devel0.31225704
84MP0009115_abnormal_fat_cell0.31075434
85MP0004134_abnormal_chest_morphology0.30993958
86MP0003656_abnormal_erythrocyte_physiolo0.30765418
87MP0003948_abnormal_gas_homeostasis0.30369515
88MP0001984_abnormal_olfaction0.30046008
89MP0005452_abnormal_adipose_tissue0.27267489
90MP0004270_analgesia0.27259347
91MP0004142_abnormal_muscle_tone0.26513307
92MP0003941_abnormal_skin_development0.25072596
93MP0005584_abnormal_enzyme/coenzyme_acti0.24932379
94MP0008569_lethality_at_weaning0.24922774
95MP0001614_abnormal_blood_vessel0.24633401
96MP0001784_abnormal_fluid_regulation0.24006856
97MP0002118_abnormal_lipid_homeostasis0.23976483
98MP0009780_abnormal_chondrocyte_physiolo0.23052569
99MP0009384_cardiac_valve_regurgitation0.22828615
100MP0001853_heart_inflammation0.21128123
101MP0004924_abnormal_behavior0.20995806
102MP0005386_behavior/neurological_phenoty0.20995806
103MP0002114_abnormal_axial_skeleton0.20768304
104MP0005423_abnormal_somatic_nervous0.20113195
105MP0000762_abnormal_tongue_morphology0.19977422
106MP0004272_abnormal_basement_membrane0.19897837
107MP0002877_abnormal_melanocyte_morpholog0.19203860
108MP0009250_abnormal_appendicular_skeleto0.18213742
109MP0002822_catalepsy0.17458222
110MP0003195_calcinosis0.16932660
111MP0005166_decreased_susceptibility_to0.16719872
112MP0005083_abnormal_biliary_tract0.16676269
113MP0005332_abnormal_amino_acid0.16585977
114MP0002970_abnormal_white_adipose0.15865412
115MP0005376_homeostasis/metabolism_phenot0.15752006
116MP0002896_abnormal_bone_mineralization0.15729021
117MP0003984_embryonic_growth_retardation0.15589217

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.75075711
2Exercise-induced muscle cramps (HP:0003710)7.29470330
3Muscle hypertrophy of the lower extremities (HP:0008968)6.94844488
4Calf muscle hypertrophy (HP:0008981)6.92536854
5Sudden death (HP:0001699)6.50719276
6Muscle fiber inclusion bodies (HP:0100299)6.46907678
7Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.25839186
8Muscle fiber splitting (HP:0003555)6.13963413
9Nemaline bodies (HP:0003798)5.58511139
10Myoglobinuria (HP:0002913)5.57801041
11Hyporeflexia of lower limbs (HP:0002600)5.36208107
12Ventricular tachycardia (HP:0004756)5.27448417
13Abnormality of the calf musculature (HP:0001430)5.25594510
14Type 1 muscle fiber predominance (HP:0003803)5.13574230
15Difficulty running (HP:0009046)4.86847369
16EMG: myopathic abnormalities (HP:0003458)4.75480216
17Increased connective tissue (HP:0009025)4.66658238
18Abnormality of the left ventricular outflow tract (HP:0011103)4.49533547
19Subaortic stenosis (HP:0001682)4.49533547
20Rhabdomyolysis (HP:0003201)4.43643868
21Distal arthrogryposis (HP:0005684)4.42127499
22Atrial fibrillation (HP:0005110)4.23544017
23Myotonia (HP:0002486)4.08225058
24Lipoatrophy (HP:0100578)4.04988767
25Primary atrial arrhythmia (HP:0001692)3.95149137
26Myopathic facies (HP:0002058)3.91998787
27Right ventricular cardiomyopathy (HP:0011663)3.84979432
28Round ear (HP:0100830)3.81106173
29Supraventricular tachycardia (HP:0004755)3.80869192
30Muscle stiffness (HP:0003552)3.76474875
31Supraventricular arrhythmia (HP:0005115)3.72446966
32Asymmetric septal hypertrophy (HP:0001670)3.67570955
33Bundle branch block (HP:0011710)3.61814070
34Dilated cardiomyopathy (HP:0001644)3.49491859
35Difficulty climbing stairs (HP:0003551)3.43852067
36Syncope (HP:0001279)3.39822996
37Ulnar deviation of the wrist (HP:0003049)3.34066892
38Abnormality of skeletal muscle fiber size (HP:0012084)3.32357227
39Increased variability in muscle fiber diameter (HP:0003557)3.25007301
40Palpitations (HP:0001962)3.19241579
41Neck muscle weakness (HP:0000467)3.16832225
42Rimmed vacuoles (HP:0003805)3.09370702
43Areflexia of lower limbs (HP:0002522)3.06618813
44Prolonged QT interval (HP:0001657)3.05792332
45Ventricular arrhythmia (HP:0004308)3.02334887
46Heart block (HP:0012722)2.95419286
47Abnormal atrioventricular conduction (HP:0005150)2.79797194
48Distal lower limb muscle weakness (HP:0009053)2.77956767
49Calcaneovalgus deformity (HP:0001848)2.75046499
50Atrioventricular block (HP:0001678)2.65206694
51Absent phalangeal crease (HP:0006109)2.56288959
52Deformed tarsal bones (HP:0008119)2.50709115
53Hypoplastic ischia (HP:0003175)2.49955086
54Ventricular fibrillation (HP:0001663)2.48851874
55Frequent falls (HP:0002359)2.47194155
56Muscular dystrophy (HP:0003560)2.41688193
57Limb-girdle muscle atrophy (HP:0003797)2.40130556
58EMG: neuropathic changes (HP:0003445)2.36049006
59Fetal akinesia sequence (HP:0001989)2.35463005
60Facial diplegia (HP:0001349)2.29757658
61Ragged-red muscle fibers (HP:0003200)2.27402290
62Left ventricular hypertrophy (HP:0001712)2.25315913
63Mildly elevated creatine phosphokinase (HP:0008180)2.24158720
64Slender build (HP:0001533)2.23955760
65Generalized muscle weakness (HP:0003324)2.22360339
66Distal lower limb amyotrophy (HP:0008944)2.21251929
67Abnormal EKG (HP:0003115)2.20959474
68Abnormality of the ischium (HP:0003174)2.18644111
69Gowers sign (HP:0003391)2.17039750
70Ketoacidosis (HP:0001993)2.15404117
71Proximal amyotrophy (HP:0007126)2.14610142
72Weak cry (HP:0001612)2.11284588
73Scapular winging (HP:0003691)2.10841929
74Abnormal finger flexion creases (HP:0006143)2.08256617
75Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.06613552
76Malignant hyperthermia (HP:0002047)2.06022268
77Hepatic necrosis (HP:0002605)2.05029636
78Hip contracture (HP:0003273)2.04441668
79Abnormal mitochondria in muscle tissue (HP:0008316)2.03230719
80Palmoplantar keratoderma (HP:0000982)2.03030485
81Abnormality of the shoulder girdle musculature (HP:0001435)2.01028066
82Waddling gait (HP:0002515)2.00666313
83Hyperkalemia (HP:0002153)2.00296387
84Lower limb amyotrophy (HP:0007210)1.99614520
85Testicular atrophy (HP:0000029)1.97996179
86Limb-girdle muscle weakness (HP:0003325)1.96527228
87Centrally nucleated skeletal muscle fibers (HP:0003687)1.95866605
88Acute necrotizing encephalopathy (HP:0006965)1.94866817
89Increased muscle lipid content (HP:0009058)1.92048471
90Abnormality of the neuromuscular junction (HP:0003398)1.90267501
91Fatigable weakness (HP:0003473)1.90267501
92Progressive muscle weakness (HP:0003323)1.89554909
93Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88943984
94Abnormality of alanine metabolism (HP:0010916)1.88943984
95Hyperalaninemia (HP:0003348)1.88943984
96Foot dorsiflexor weakness (HP:0009027)1.86120139
97Steppage gait (HP:0003376)1.84675767
98Abnormality of the foot musculature (HP:0001436)1.84466071
99Exercise intolerance (HP:0003546)1.84019938
100Spinal rigidity (HP:0003306)1.83683084
101Toxemia of pregnancy (HP:0100603)1.83130024
102Abnormality of the hip-girdle musculature (HP:0001445)1.82802463
103Abnormality of the musculature of the pelvis (HP:0001469)1.82802463
104Respiratory insufficiency due to muscle weakness (HP:0002747)1.82754103
105Hypoglycemic coma (HP:0001325)1.81686707
106Conjunctival hamartoma (HP:0100780)1.79833150
107Bulbar palsy (HP:0001283)1.79275727
108Hepatocellular necrosis (HP:0001404)1.77038970
109Insulin-resistant diabetes mellitus (HP:0000831)1.74948629
110Pelvic girdle muscle weakness (HP:0003749)1.74794330
111Oligomenorrhea (HP:0000876)1.74572908
112Abnormality of the calcaneus (HP:0008364)1.70918594
113Diaphragmatic weakness (HP:0009113)1.55924381
114Long clavicles (HP:0000890)1.52457114
115Nonprogressive disorder (HP:0003680)1.49141424
116Increased intramyocellular lipid droplets (HP:0012240)1.47390296
117Limited hip movement (HP:0008800)1.45459907

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.14244762
2TTN6.35097716
3PHKG25.00808830
4PHKG15.00808830
5PDK43.12623989
6PDK33.12623989
7DMPK2.83617514
8TRIB32.39478559
9NEK12.33752183
10LMTK22.33524486
11PINK12.26199071
12PIK3CA2.12380170
13BCKDK2.11551802
14MUSK2.09893440
15PKN22.08259560
16PDK22.02301856
17NME11.92128800
18MYLK1.87570404
19PIK3CG1.77065131
20MAP2K31.65874416
21MAP3K71.61774455
22STK241.39787027
23MARK11.36696262
24TIE11.36686004
25MAPK121.30159382
26GRK71.15244148
27LIMK11.06086110
28PRKAA20.97830652
29PRKAA10.97254504
30ZAK0.96942813
31CAMK2D0.92865518
32PRKD10.91036435
33MAPKAPK30.90014255
34TRPM70.82739013
35ILK0.81097419
36INSRR0.81084199
37MAP2K40.79517540
38RIPK10.77701029
39NEK90.76101631
40PAK30.74586298
41MAP3K30.71266593
42CCNB10.68689369
43EPHA30.68010186
44ROCK10.66627629
45MAP3K50.62461813
46ERBB30.62236910
47STK38L0.61699394
48PKN10.58408965
49MAPK40.57348981
50EPHB10.57217828
51MOS0.57009292
52MAP2K60.56553393
53LATS10.53332941
54CAMK2B0.51834004
55SIK10.50467911
56CAMK40.48093619
57AKT20.46754834
58MAP2K10.46451457
59CAMK2G0.45936504
60FLT30.45856075
61PDGFRA0.45276667
62STK380.44541136
63SGK20.44001274
64PRKACB0.42805607
65TGFBR20.42692116
66STK40.39889238
67CAMK2A0.38729302
68WNK10.37138122
69MAPK110.36203471
70MAP3K60.35721700
71DYRK1B0.35599572
72TAOK10.35542209
73ROCK20.35287362
74NLK0.34361517
75PRKACA0.34337485
76WNK40.34210280
77PDPK10.33289259
78LATS20.33226476
79CDC42BPA0.32668844
80MAP3K130.31982941
81PTK60.30151822
82PDK10.28365577
83SGK10.27744364
84PRKACG0.27560225
85CAMK10.27153091
86STK110.26576797
87MARK20.26521289
88PRKG10.25586954
89ICK0.24220461
90FGFR30.23995750
91MAPK100.23914862
92SGK30.22942245
93RPS6KA10.22446343
94RPS6KL10.22192277
95RPS6KC10.22192277
96RET0.21837464
97EEF2K0.21586449
98SGK4940.21241150
99SGK2230.21241150
100RPS6KA30.20944790
101KDR0.20481247
102PTK2B0.20046905
103MAP3K10.20007926
104KSR20.19825324
105PRKCH0.19506245
106PRKD30.19417653
107MAPK70.19015253
108MARK30.18943907
109RPS6KB10.18827278
110MAP3K100.18629697
111ZAP700.17687725
112MAP3K110.17393439
113JAK10.17021380
114RPS6KA60.16667502
115TBK10.15418001
116MTOR0.14073835
117FER0.13966114
118CAMK1G0.13878617
119PAK60.13799136
120TAOK20.13642382
121RPS6KB20.13512889
122PRKCE0.12258235
123DAPK30.11444173
124MAP3K40.09961000
125JAK20.08629899
126PRPF4B0.07367006

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.59215185
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.09613076
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.01289694
4Cardiac muscle contraction_Homo sapiens_hsa042604.01258974
5Dilated cardiomyopathy_Homo sapiens_hsa054143.85136778
6Propanoate metabolism_Homo sapiens_hsa006403.18167164
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.08054464
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.06133885
9Fatty acid degradation_Homo sapiens_hsa000712.61661430
10Parkinsons disease_Homo sapiens_hsa050122.48381229
11Carbon metabolism_Homo sapiens_hsa012002.37664068
12Oxidative phosphorylation_Homo sapiens_hsa001902.31812662
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.13275022
14Fatty acid metabolism_Homo sapiens_hsa012121.99908587
15Alzheimers disease_Homo sapiens_hsa050101.97986386
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.84300069
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.79172173
18Viral myocarditis_Homo sapiens_hsa054161.73203390
19Pyruvate metabolism_Homo sapiens_hsa006201.70106859
20Starch and sucrose metabolism_Homo sapiens_hsa005001.61417664
21Insulin resistance_Homo sapiens_hsa049311.50717187
22Glucagon signaling pathway_Homo sapiens_hsa049221.46522168
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.43010517
24Insulin signaling pathway_Homo sapiens_hsa049101.42423657
25Huntingtons disease_Homo sapiens_hsa050161.41586760
26Adipocytokine signaling pathway_Homo sapiens_hsa049201.30570232
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.22841365
28Oxytocin signaling pathway_Homo sapiens_hsa049211.18980679
29Butanoate metabolism_Homo sapiens_hsa006501.14223241
30Biosynthesis of amino acids_Homo sapiens_hsa012301.14010647
31cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13618199
32Calcium signaling pathway_Homo sapiens_hsa040201.11946712
33Circadian rhythm_Homo sapiens_hsa047101.06983016
34AMPK signaling pathway_Homo sapiens_hsa041521.06887146
35PPAR signaling pathway_Homo sapiens_hsa033200.97681495
36Fatty acid elongation_Homo sapiens_hsa000620.97350098
37Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.96480273
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94385547
39Galactose metabolism_Homo sapiens_hsa000520.84818021
40Focal adhesion_Homo sapiens_hsa045100.82703962
41Arginine and proline metabolism_Homo sapiens_hsa003300.82312199
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.79931109
43Arginine biosynthesis_Homo sapiens_hsa002200.74533303
44HIF-1 signaling pathway_Homo sapiens_hsa040660.74347467
45Tight junction_Homo sapiens_hsa045300.73123475
46Type II diabetes mellitus_Homo sapiens_hsa049300.72160798
47Fatty acid biosynthesis_Homo sapiens_hsa000610.70248738
48beta-Alanine metabolism_Homo sapiens_hsa004100.69841014
49Fructose and mannose metabolism_Homo sapiens_hsa000510.67350024
50Lysine degradation_Homo sapiens_hsa003100.66599738
51Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63771085
52Gastric acid secretion_Homo sapiens_hsa049710.63682080
53Renin secretion_Homo sapiens_hsa049240.59854219
54Central carbon metabolism in cancer_Homo sapiens_hsa052300.59581156
55Tryptophan metabolism_Homo sapiens_hsa003800.58393258
56Nitrogen metabolism_Homo sapiens_hsa009100.56034566
57Long-term potentiation_Homo sapiens_hsa047200.55694345
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.49955580
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48308783
60GnRH signaling pathway_Homo sapiens_hsa049120.48286321
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47760255
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46847554
63Insulin secretion_Homo sapiens_hsa049110.46795422
64Adherens junction_Homo sapiens_hsa045200.46131247
65mTOR signaling pathway_Homo sapiens_hsa041500.45114315
66Regulation of autophagy_Homo sapiens_hsa041400.40637772
67cAMP signaling pathway_Homo sapiens_hsa040240.40486520
68ECM-receptor interaction_Homo sapiens_hsa045120.38255112
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.36668323
70Peroxisome_Homo sapiens_hsa041460.36632973
71VEGF signaling pathway_Homo sapiens_hsa043700.36110654
72FoxO signaling pathway_Homo sapiens_hsa040680.35757599
73Amoebiasis_Homo sapiens_hsa051460.34010882
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33868797
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.33816185
76Phenylalanine metabolism_Homo sapiens_hsa003600.33688042
77Regulation of actin cytoskeleton_Homo sapiens_hsa048100.31479531
78Platelet activation_Homo sapiens_hsa046110.30999840
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.30835725
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.29839061
81Renal cell carcinoma_Homo sapiens_hsa052110.29392150
82Circadian entrainment_Homo sapiens_hsa047130.26079388
83Amphetamine addiction_Homo sapiens_hsa050310.26014792
84Dorso-ventral axis formation_Homo sapiens_hsa043200.25489901
85MAPK signaling pathway_Homo sapiens_hsa040100.23702460
86Leukocyte transendothelial migration_Homo sapiens_hsa046700.22423022
87Proteoglycans in cancer_Homo sapiens_hsa052050.22078155
88Endometrial cancer_Homo sapiens_hsa052130.19593031
89Long-term depression_Homo sapiens_hsa047300.19485188
90Ovarian steroidogenesis_Homo sapiens_hsa049130.18998923
91Pancreatic secretion_Homo sapiens_hsa049720.18373011
92Pentose phosphate pathway_Homo sapiens_hsa000300.17766047
93Melanogenesis_Homo sapiens_hsa049160.17313231
94Cholinergic synapse_Homo sapiens_hsa047250.16468465
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.13689312
96Histidine metabolism_Homo sapiens_hsa003400.13626979
97Metabolic pathways_Homo sapiens_hsa011000.13594281
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.12461392
99Olfactory transduction_Homo sapiens_hsa047400.11697781
100Fat digestion and absorption_Homo sapiens_hsa049750.10496041
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.10418023
102Cysteine and methionine metabolism_Homo sapiens_hsa002700.09182792
103Gap junction_Homo sapiens_hsa045400.08189540
104Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.06970471
105Toxoplasmosis_Homo sapiens_hsa051450.05604969
106Tyrosine metabolism_Homo sapiens_hsa003500.04148336
107ABC transporters_Homo sapiens_hsa020100.03885560
108Glycerolipid metabolism_Homo sapiens_hsa005610.03278170
109Bile secretion_Homo sapiens_hsa049760.03194737
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.02857108
111Salivary secretion_Homo sapiens_hsa049700.02157135
112Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.02044907

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