MYPN

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: Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)9.91842105
2actin-myosin filament sliding (GO:0033275)9.91842105
3regulation of skeletal muscle contraction (GO:0014819)8.85092103
4* sarcomere organization (GO:0045214)8.48105801
5actin-mediated cell contraction (GO:0070252)8.15734688
6sarcoplasmic reticulum calcium ion transport (GO:0070296)7.71014127
7plasma membrane repair (GO:0001778)7.60717017
8myofibril assembly (GO:0030239)7.57475304
9negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.54919377
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.45354286
11cardiac myofibril assembly (GO:0055003)7.12510957
12skeletal muscle contraction (GO:0003009)7.05106442
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.64060852
14negative regulation of potassium ion transmembrane transport (GO:1901380)6.55412051
15striated muscle contraction (GO:0006941)6.29362147
16actin filament-based movement (GO:0030048)6.09062270
17cardiac muscle contraction (GO:0060048)6.08873892
18response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.93242500
19skeletal muscle adaptation (GO:0043501)5.83336279
20tricarboxylic acid cycle (GO:0006099)5.79473095
21regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.75132915
22carnitine shuttle (GO:0006853)5.74545031
23regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.68206751
24regulation of relaxation of muscle (GO:1901077)5.65873330
25regulation of cell communication by electrical coupling (GO:0010649)5.65534413
26cardiac muscle cell development (GO:0055013)5.56510432
27* actomyosin structure organization (GO:0031032)5.49201785
28regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.41220728
29regulation of actin filament-based movement (GO:1903115)5.39250395
30regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.37055147
31cardiac cell development (GO:0055006)5.20788544
32regulation of acyl-CoA biosynthetic process (GO:0050812)5.16831943
33creatine metabolic process (GO:0006600)5.11566900
34fatty acid transmembrane transport (GO:1902001)4.87633977
35response to inactivity (GO:0014854)4.84294036
36ventricular cardiac muscle cell action potential (GO:0086005)4.78095875
37regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.75100843
38regulation of cofactor metabolic process (GO:0051193)4.68932803
39regulation of coenzyme metabolic process (GO:0051196)4.68932803
40muscle contraction (GO:0006936)4.66851604
41cardiac muscle tissue morphogenesis (GO:0055008)4.64632279
42regulation of striated muscle contraction (GO:0006942)4.64488481
43adult heart development (GO:0007512)4.62124910
44cardiac muscle hypertrophy (GO:0003300)4.56383041
45skeletal muscle tissue development (GO:0007519)4.53013711
46heart contraction (GO:0060047)4.52547183
47heart process (GO:0003015)4.52547183
48striated muscle atrophy (GO:0014891)4.49552385
49striated muscle hypertrophy (GO:0014897)4.47354870
50regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.43154189
51regulation of sarcomere organization (GO:0060297)4.39293748
52muscle tissue morphogenesis (GO:0060415)4.37137405
53regulation of membrane repolarization (GO:0060306)4.33584847
54striated muscle adaptation (GO:0014888)4.32833028
55muscle cell cellular homeostasis (GO:0046716)4.28410117
56carnitine transmembrane transport (GO:1902603)4.27865788
57muscle system process (GO:0003012)4.26260924
58response to muscle activity (GO:0014850)4.25218333
59glycogen catabolic process (GO:0005980)4.17410281
60bundle of His cell to Purkinje myocyte communication (GO:0086069)4.08823745
61heart trabecula formation (GO:0060347)4.05841741
62striated muscle cell development (GO:0055002)4.04033973
63positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.95654523
64skeletal muscle fiber development (GO:0048741)3.94998547
65muscle fiber development (GO:0048747)3.94025533
66pyrimidine ribonucleoside catabolic process (GO:0046133)3.93740762
67NADH metabolic process (GO:0006734)3.93228497
68muscle cell fate commitment (GO:0042693)3.93086241
69muscle hypertrophy (GO:0014896)3.92566553
70ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.92425517
71carnitine transport (GO:0015879)3.89641748
72amino-acid betaine transport (GO:0015838)3.89641748
73glucan catabolic process (GO:0009251)3.89021623
74skeletal muscle tissue regeneration (GO:0043403)3.88612582
75muscle atrophy (GO:0014889)3.84202360
76regulation of sulfur metabolic process (GO:0042762)3.82144961
77muscle structure development (GO:0061061)3.80477016
78muscle organ development (GO:0007517)3.79789132
79cardiac muscle hypertrophy in response to stress (GO:0014898)3.74942060
80cardiac muscle adaptation (GO:0014887)3.74942060
81cytidine deamination (GO:0009972)3.74226216
82cytidine metabolic process (GO:0046087)3.74226216
83cytidine catabolic process (GO:0006216)3.74226216
842-oxoglutarate metabolic process (GO:0006103)3.69263529
85regulation of calcium ion transmembrane transport (GO:1903169)3.67044259
86regulation of calcium ion transmembrane transporter activity (GO:1901019)3.67044259
87mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.64119660
88negative regulation of protein localization to cell surface (GO:2000009)3.62795153
89cellular polysaccharide catabolic process (GO:0044247)3.60878353
90muscle adaptation (GO:0043500)3.59043213
91negative regulation of potassium ion transport (GO:0043267)3.59025485
92glycogen metabolic process (GO:0005977)3.57738059
93positive regulation of myotube differentiation (GO:0010831)3.56355715
94mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.56070212
95glycogen biosynthetic process (GO:0005978)3.55278472
96glucan biosynthetic process (GO:0009250)3.55278472
97regulation of sequestering of triglyceride (GO:0010889)3.54901205
98cardiac muscle cell action potential (GO:0086001)3.52947367
99cardiac muscle cell action potential involved in contraction (GO:0086002)3.52497795
100regulation of the force of heart contraction (GO:0002026)3.52079801
101cellular glucan metabolic process (GO:0006073)3.49871894
102glucan metabolic process (GO:0044042)3.49871894
103positive regulation of cation channel activity (GO:2001259)3.49048755
104regulation of ATP catabolic process (GO:1903289)3.47454527
105regulation of ATPase activity (GO:0043462)3.47454527
106cell communication involved in cardiac conduction (GO:0086065)3.46638089
107oxidative phosphorylation (GO:0006119)3.46175566
108muscle cell development (GO:0055001)3.45739384
109respiratory electron transport chain (GO:0022904)3.44315782
110myotube cell development (GO:0014904)3.42348504
111polysaccharide catabolic process (GO:0000272)3.41566980
112regulation of muscle system process (GO:0090257)3.40364120
113muscle hypertrophy in response to stress (GO:0003299)3.40029178
114response to activity (GO:0014823)3.37436443
115negative regulation of calcium ion transmembrane transport (GO:1903170)3.36027608
116negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.36027608
117regulation of myoblast differentiation (GO:0045661)3.32535177
118negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.29791200
119response to caffeine (GO:0031000)3.28806615
120regulation of muscle contraction (GO:0006937)3.27962344
121striated muscle tissue development (GO:0014706)3.24709470
122gluconeogenesis (GO:0006094)3.22113825
123muscle organ morphogenesis (GO:0048644)3.16838582

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.18031143
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.29557055
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.25851564
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.13146338
5* TBX20_22080862_ChIP-Seq_HEART_Mouse3.91205080
6* TBX20_22328084_ChIP-Seq_HEART_Mouse3.91205080
7EP300_21415370_ChIP-Seq_HL-1_Mouse3.88908665
8ZNF263_19887448_ChIP-Seq_K562_Human3.66706917
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.50618426
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.01843616
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.95234085
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.84257942
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.37143273
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.23276235
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.21253942
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.10964329
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.09572163
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.93640347
19BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.89374570
20EZH2_22144423_ChIP-Seq_EOC_Human1.83217057
21NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.76272506
22TRIM28_21343339_ChIP-Seq_HEK293_Human1.75528367
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.72363787
24TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.67282402
25* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.66020522
26CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.60664334
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.60363870
28* ESR2_21235772_ChIP-Seq_MCF-7_Human1.57300293
29CTCF_27219007_Chip-Seq_Bcells_Human1.56964517
30PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.55401085
31EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.53449366
32CLOCK_20551151_ChIP-Seq_293T_Human1.53349820
33NFIB_24661679_ChIP-Seq_LUNG_Mouse1.49924642
34NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.39028335
35TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38823867
36STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.36351673
37EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.36047456
38PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.33972737
39KDM2B_26808549_Chip-Seq_DND41_Human1.29365272
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.29333496
41ZNF274_21170338_ChIP-Seq_K562_Hela1.27580349
42SUZ12_27294783_Chip-Seq_NPCs_Mouse1.25926303
43PPARA_22158963_ChIP-Seq_LIVER_Mouse1.25893356
44CTCF_21964334_ChIP-Seq_BJAB-B_Human1.25110874
45ESR1_21235772_ChIP-Seq_MCF-7_Human1.24753233
46KDM2B_26808549_Chip-Seq_SUP-B15_Human1.23444670
47STAT3_1855785_ChIP-Seq_MESCs_Mouse1.21141742
48TP63_22573176_ChIP-Seq_HFKS_Human1.20316520
49FOXH1_21741376_ChIP-Seq_ESCs_Human1.19632914
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19304370
51ATF3_27146783_Chip-Seq_COLON_Human1.19013587
52TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18758942
53RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.18535097
54DROSHA_22980978_ChIP-Seq_HELA_Human1.16498197
55NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.15854702
56NRF2_20460467_ChIP-Seq_MEFs_Mouse1.15854702
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.15032052
58OCT4_20526341_ChIP-Seq_ESCs_Human1.14833473
59SMC3_22415368_ChIP-Seq_MEFs_Mouse1.14584887
60P68_20966046_ChIP-Seq_HELA_Human1.14324885
61GBX2_23144817_ChIP-Seq_PC3_Human1.14154018
62RACK7_27058665_Chip-Seq_MCF-7_Human1.12778726
63CTCF_21964334_Chip-Seq_Bcells_Human1.12475961
64* CJUN_26792858_Chip-Seq_BT549_Human1.12195274
65TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09004650
66YY1_22570637_ChIP-Seq_MALME-3M_Human1.08819784
67LXR_22292898_ChIP-Seq_THP-1_Human1.07189112
68IGF1R_20145208_ChIP-Seq_DFB_Human1.06800033
69RBPJ_22232070_ChIP-Seq_NCS_Mouse1.06602574
70PCGF2_27294783_Chip-Seq_ESCs_Mouse1.06021894
71LXR_22158963_ChIP-Seq_LIVER_Mouse1.03772503
72FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.02690089
73SA1_27219007_Chip-Seq_Bcells_Human1.02485650
74SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.02115295
75UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.01821252
76SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00386283
77* CRX_20693478_ChIP-Seq_RETINA_Mouse1.00268158
78RUNX1_27514584_Chip-Seq_MCF-7_Human1.00147001
79* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.99837399
80CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.99732137
81SPI1_20517297_ChIP-Seq_HL60_Human0.99234961
82SOX2_21211035_ChIP-Seq_LN229_Gbm0.98993590
83NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98929376
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.98919148
85* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.98529777
86CBX2_27304074_Chip-Seq_ESCs_Mouse0.97740208
87STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.97532115
88GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.97052862
89NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.96798996
90ELK3_25401928_ChIP-Seq_HUVEC_Human0.96556574
91TDRD3_21172665_ChIP-Seq_MCF-7_Human0.96121886
92AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95243922
93ZFP281_18757296_ChIP-ChIP_E14_Mouse0.93908892
94ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.93793133
95SMC1_22415368_ChIP-Seq_MEFs_Mouse0.93080849
96CREB1_26743006_Chip-Seq_LNCaP_Human0.92997998
97* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.91274054
98PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91096498
99* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.90718038
100DNAJC2_21179169_ChIP-ChIP_NT2_Human0.90552808
101* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.90346370
102SMAD_19615063_ChIP-ChIP_OVARY_Human0.90240179
103BCL6_27268052_Chip-Seq_Bcells_Human0.90199685
104P63_26484246_Chip-Seq_KERATINOCYTES_Human0.89784658
105FLI1_27457419_Chip-Seq_LIVER_Mouse0.89457774
106PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.89326827
107GATA1_19941826_ChIP-Seq_K562_Human0.88836144
108E2F1_20622854_ChIP-Seq_HELA_Human0.88288169
109ISL1_27105846_Chip-Seq_CPCs_Mouse0.87610205
110EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.86746851
111WT1_19549856_ChIP-ChIP_CCG9911_Human0.86587340
112AR_21572438_ChIP-Seq_LNCaP_Human0.85858173
113RXR_22158963_ChIP-Seq_LIVER_Mouse0.85180013
114ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85138051
115TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84527153
116EZH2_27294783_Chip-Seq_ESCs_Mouse0.83932598
117PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83774794
118SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.83283867
119SMAD3_21741376_ChIP-Seq_HESCs_Human0.82698857
120RARB_27405468_Chip-Seq_BRAIN_Mouse0.81902247
121BCOR_27268052_Chip-Seq_Bcells_Human0.81891759
122PCGF2_27294783_Chip-Seq_NPCs_Mouse0.81402654
123SOX9_24532713_ChIP-Seq_HFSC_Mouse0.79358080
124PHF8_20622853_ChIP-Seq_HELA_Human0.79302266
125FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.79188540
126SMC4_20622854_ChIP-Seq_HELA_Human0.78968140
127TP53_23651856_ChIP-Seq_MEFs_Mouse0.78046353
128KLF4_19829295_ChIP-Seq_ESCs_Human0.77671717
129P300_27058665_Chip-Seq_ZR-75-30cells_Human0.77354962
130CSB_26484114_Chip-Seq_FIBROBLAST_Human0.76992577
131* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.76803638
132SMAD4_21799915_ChIP-Seq_A2780_Human0.76802949
133HIF1A_21447827_ChIP-Seq_MCF-7_Human0.76785335
134GATA6_21074721_ChIP-Seq_CACO-2_Human0.76220948
135NANOG_20526341_ChIP-Seq_ESCs_Human0.75642371
136LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.75626827
137STAT6_21828071_ChIP-Seq_BEAS2B_Human0.75403848
138NR3C1_21868756_ChIP-Seq_MCF10A_Human0.75268083
139* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.75083201
140VDR_22108803_ChIP-Seq_LS180_Human0.74745501
141GATA1_19941827_ChIP-Seq_MEL_Mouse0.74185457
142CTNNB1_20460455_ChIP-Seq_HCT116_Human0.73724789
143GATA1_22025678_ChIP-Seq_K562_Human0.73427775
144MYC_27129775_Chip-Seq_CORNEA_Mouse0.73050338
145SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71987360

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.52452785
2MP0002837_dystrophic_cardiac_calcinosis6.04972662
3MP0000751_myopathy5.76077155
4MP0000749_muscle_degeneration5.12843771
5MP0004145_abnormal_muscle_electrophysio4.56173395
6MP0004084_abnormal_cardiac_muscle4.47162403
7MP0004036_abnormal_muscle_relaxation4.32711463
8MP0004215_abnormal_myocardial_fiber3.76849418
9MP0004087_abnormal_muscle_fiber3.41199263
10MP0002106_abnormal_muscle_physiology3.36587126
11MP0005330_cardiomyopathy3.35761343
12MP0000750_abnormal_muscle_regeneration3.27197991
13MP0000747_muscle_weakness3.14878441
14MP0005620_abnormal_muscle_contractility2.97834304
15MP0002269_muscular_atrophy2.97523238
16MP0004130_abnormal_muscle_cell2.87928226
17MP0000759_abnormal_skeletal_muscle2.84648217
18MP0005369_muscle_phenotype2.76829407
19MP0002972_abnormal_cardiac_muscle2.57348372
20MP0003137_abnormal_impulse_conducting2.22740374
21MP0004484_altered_response_of2.22470583
22MP0004233_abnormal_muscle_weight2.21378318
23MP0010630_abnormal_cardiac_muscle2.18628637
24MP0008775_abnormal_heart_ventricle2.08393939
25MP0001544_abnormal_cardiovascular_syste2.07472871
26MP0005385_cardiovascular_system_phenoty2.07472871
27MP0006036_abnormal_mitochondrial_physio1.87246886
28MP0003221_abnormal_cardiomyocyte_apopto1.80111682
29MP0002332_abnormal_exercise_endurance1.76956016
30MP0006138_congestive_heart_failure1.76747432
31MP0003950_abnormal_plasma_membrane1.55721661
32MP0003828_pulmonary_edema1.55624609
33MP0005666_abnormal_adipose_tissue1.52294297
34MP0000733_abnormal_muscle_development1.47738387
35MP0004085_abnormal_heartbeat1.46701891
36MP0002108_abnormal_muscle_morphology1.43041192
37MP0001661_extended_life_span1.41647938
38MP0004510_myositis1.35765926
39MP0004185_abnormal_adipocyte_glucose1.35314165
40MP0002127_abnormal_cardiovascular_syste1.30206742
41MP0005670_abnormal_white_adipose1.18457146
42MP0005375_adipose_tissue_phenotype1.07485971
43MP0006035_abnormal_mitochondrial_morpho1.05142375
44MP0002234_abnormal_pharynx_morphology1.05093327
45MP0000343_altered_response_to0.96254206
46MP0005266_abnormal_metabolism0.95801493
47MP0000266_abnormal_heart_morphology0.95197999
48MP0003567_abnormal_fetal_cardiomyocyte0.93164910
49MP0002971_abnormal_brown_adipose0.92083891
50MP0000013_abnormal_adipose_tissue0.81404309
51MP0003806_abnormal_nucleotide_metabolis0.80744078
52MP0003705_abnormal_hypodermis_morpholog0.75575834
53MP0005165_increased_susceptibility_to0.72553172
54MP0004043_abnormal_pH_regulation0.64407534
55MP0000003_abnormal_adipose_tissue0.61728757
56MP0000230_abnormal_systemic_arterial0.60555904
57MP0002128_abnormal_blood_circulation0.58044280
58MP0003279_aneurysm0.57837484
59MP0010368_abnormal_lymphatic_system0.54990956
60MP0004147_increased_porphyrin_level0.53224859
61MP0000372_irregular_coat_pigmentation0.52670593
62MP0005275_abnormal_skin_tensile0.51844015
63MP0002078_abnormal_glucose_homeostasis0.50892359
64MP0004134_abnormal_chest_morphology0.50506755
65MP0003879_abnormal_hair_cell0.49330937
66MP0002909_abnormal_adrenal_gland0.48317425
67MP0010030_abnormal_orbit_morphology0.48073734
68MP0004270_analgesia0.48026217
69MP0005623_abnormal_meninges_morphology0.47944924
70MP0008961_abnormal_basal_metabolism0.47668097
71MP0005451_abnormal_body_composition0.46886311
72MP0005319_abnormal_enzyme/_coenzyme0.45786863
73MP0003566_abnormal_cell_adhesion0.43656467
74MP0005334_abnormal_fat_pad0.41290054
75MP0005187_abnormal_penis_morphology0.39593400
76MP0002822_catalepsy0.37477865
77MP0009250_abnormal_appendicular_skeleto0.36798639
78MP0003656_abnormal_erythrocyte_physiolo0.35261699
79MP0001299_abnormal_eye_distance/0.35193073
80MP0004142_abnormal_muscle_tone0.34830132
81MP0000767_abnormal_smooth_muscle0.33830861
82MP0001879_abnormal_lymphatic_vessel0.33355797
83MP0002114_abnormal_axial_skeleton0.33285345
84MP0003948_abnormal_gas_homeostasis0.31596362
85MP0003045_fibrosis0.30781346
86MP0002925_abnormal_cardiovascular_devel0.29893634
87MP0009115_abnormal_fat_cell0.28289500
88MP0005452_abnormal_adipose_tissue0.27992388
89MP0008438_abnormal_cutaneous_collagen0.27932023
90MP0005535_abnormal_body_temperature0.27650291
91MP0000762_abnormal_tongue_morphology0.26933433
92MP0003941_abnormal_skin_development0.26474060
93MP0009384_cardiac_valve_regurgitation0.24707581
94MP0009840_abnormal_foam_cell0.24590336
95MP0005167_abnormal_blood-brain_barrier0.24486238
96MP0001784_abnormal_fluid_regulation0.24429652
97MP0005423_abnormal_somatic_nervous0.24141699
98MP0005332_abnormal_amino_acid0.24122837
99MP0008569_lethality_at_weaning0.22544192
100MP0000579_abnormal_nail_morphology0.22267004
101MP0005584_abnormal_enzyme/coenzyme_acti0.22221201
102MP0001614_abnormal_blood_vessel0.22166770
103MP0002118_abnormal_lipid_homeostasis0.21866990
104MP0002638_abnormal_pupillary_reflex0.21632916
105MP0009780_abnormal_chondrocyte_physiolo0.21456237
106MP0005083_abnormal_biliary_tract0.20990344
107MP0003984_embryonic_growth_retardation0.20970719
108MP0003195_calcinosis0.20586787
109MP0002088_abnormal_embryonic_growth/wei0.19834391
110MP0004272_abnormal_basement_membrane0.19435611
111MP0005376_homeostasis/metabolism_phenot0.19393115
112MP0001943_abnormal_respiration0.18980216
113MP0003959_abnormal_lean_body0.18920186
114MP0001727_abnormal_embryo_implantation0.18605133
115MP0009672_abnormal_birth_weight0.18166515
116MP0005595_abnormal_vascular_smooth0.18156280
117MP0002896_abnormal_bone_mineralization0.17703048
118MP0001853_heart_inflammation0.16839803
119MP0002970_abnormal_white_adipose0.16361414
120MP0002168_other_aberrant_phenotype0.16099112

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.66891989
2Exercise-induced muscle cramps (HP:0003710)7.16061696
3Muscle fiber inclusion bodies (HP:0100299)6.94938449
4Muscle hypertrophy of the lower extremities (HP:0008968)6.91259238
5Calf muscle hypertrophy (HP:0008981)6.88961009
6Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.72763250
7Muscle fiber splitting (HP:0003555)6.38278886
8Sudden death (HP:0001699)6.10906619
9Nemaline bodies (HP:0003798)6.03387749
10Type 1 muscle fiber predominance (HP:0003803)5.54405093
11Hyporeflexia of lower limbs (HP:0002600)5.49290371
12Abnormality of the calf musculature (HP:0001430)5.29934329
13Myoglobinuria (HP:0002913)5.20885286
14Difficulty running (HP:0009046)5.01499591
15Ventricular tachycardia (HP:0004756)4.91843568
16EMG: myopathic abnormalities (HP:0003458)4.89407593
17Distal arthrogryposis (HP:0005684)4.72175481
18Subaortic stenosis (HP:0001682)4.67600439
19Abnormality of the left ventricular outflow tract (HP:0011103)4.67600439
20Increased connective tissue (HP:0009025)4.61538046
21Myopathic facies (HP:0002058)4.24017303
22Rhabdomyolysis (HP:0003201)4.20435403
23Myotonia (HP:0002486)4.06186171
24Round ear (HP:0100830)4.02947601
25Atrial fibrillation (HP:0005110)3.87683605
26Asymmetric septal hypertrophy (HP:0001670)3.78455427
27Muscle stiffness (HP:0003552)3.73158309
28Ulnar deviation of the wrist (HP:0003049)3.69185997
29Difficulty climbing stairs (HP:0003551)3.68985919
30Primary atrial arrhythmia (HP:0001692)3.61759558
31* Lipoatrophy (HP:0100578)3.61485712
32Bundle branch block (HP:0011710)3.52559291
33Supraventricular tachycardia (HP:0004755)3.49258150
34Right ventricular cardiomyopathy (HP:0011663)3.48569882
35Supraventricular arrhythmia (HP:0005115)3.41572831
36Abnormality of skeletal muscle fiber size (HP:0012084)3.37539548
37Neck muscle weakness (HP:0000467)3.32581060
38Dilated cardiomyopathy (HP:0001644)3.31180143
39Increased variability in muscle fiber diameter (HP:0003557)3.23246364
40Areflexia of lower limbs (HP:0002522)3.20544975
41Palpitations (HP:0001962)3.06938856
42Syncope (HP:0001279)3.06856369
43Calcaneovalgus deformity (HP:0001848)3.03554244
44Rimmed vacuoles (HP:0003805)2.98744558
45Prolonged QT interval (HP:0001657)2.96543448
46Heart block (HP:0012722)2.87681199
47Ventricular arrhythmia (HP:0004308)2.87565118
48Fetal akinesia sequence (HP:0001989)2.84391843
49Distal lower limb muscle weakness (HP:0009053)2.83402900
50Absent phalangeal crease (HP:0006109)2.81144928
51Deformed tarsal bones (HP:0008119)2.76669876
52Abnormal atrioventricular conduction (HP:0005150)2.72724897
53Atrioventricular block (HP:0001678)2.63601599
54Slender build (HP:0001533)2.56148344
55Hypoplastic ischia (HP:0003175)2.52994170
56Frequent falls (HP:0002359)2.48781988
57EMG: neuropathic changes (HP:0003445)2.48260740
58Limb-girdle muscle atrophy (HP:0003797)2.47711115
59Ventricular fibrillation (HP:0001663)2.46629413
60Mildly elevated creatine phosphokinase (HP:0008180)2.45497538
61Gowers sign (HP:0003391)2.41872746
62Malignant hyperthermia (HP:0002047)2.40781572
63Muscular dystrophy (HP:0003560)2.39582169
64Generalized muscle weakness (HP:0003324)2.31299083
65Abnormal finger flexion creases (HP:0006143)2.28726344
66Distal lower limb amyotrophy (HP:0008944)2.24889378
67Facial diplegia (HP:0001349)2.24778863
68Fatigable weakness (HP:0003473)2.23596140
69Abnormality of the neuromuscular junction (HP:0003398)2.23596140
70Abnormality of the ischium (HP:0003174)2.19671886
71Proximal amyotrophy (HP:0007126)2.17658621
72Abnormal EKG (HP:0003115)2.16336943
73Left ventricular hypertrophy (HP:0001712)2.15909896
74Progressive muscle weakness (HP:0003323)2.14672461
75Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.13625924
76Scapular winging (HP:0003691)2.11216559
77Testicular atrophy (HP:0000029)2.10829451
78Abnormal mitochondria in muscle tissue (HP:0008316)2.08001987
79Ragged-red muscle fibers (HP:0003200)2.07327272
80Bulbar palsy (HP:0001283)2.07223700
81Limb-girdle muscle weakness (HP:0003325)2.06902401
82Acute necrotizing encephalopathy (HP:0006965)2.03461896
83Centrally nucleated skeletal muscle fibers (HP:0003687)2.00709281
84Waddling gait (HP:0002515)1.99862422
85Popliteal pterygium (HP:0009756)1.99645684
86Hepatic necrosis (HP:0002605)1.98530874
87Hip contracture (HP:0003273)1.97047421
88Abnormality of the musculature of the pelvis (HP:0001469)1.96793830
89Abnormality of the hip-girdle musculature (HP:0001445)1.96793830
90Spinal rigidity (HP:0003306)1.95756714
91Weak cry (HP:0001612)1.93133240
92Hyperkalemia (HP:0002153)1.92620697
93Pelvic girdle muscle weakness (HP:0003749)1.91908134
94Ketoacidosis (HP:0001993)1.90709812
95Respiratory insufficiency due to muscle weakness (HP:0002747)1.90372619
96Shoulder girdle muscle weakness (HP:0003547)1.90349823
97Exercise intolerance (HP:0003546)1.85724672
98Increased muscle lipid content (HP:0009058)1.83294071
99Abnormality of the foot musculature (HP:0001436)1.83280009
100Foot dorsiflexor weakness (HP:0009027)1.81120260
101Abnormality of the shoulder girdle musculature (HP:0001435)1.78003929
102Long clavicles (HP:0000890)1.77831535
103* Palmoplantar keratoderma (HP:0000982)1.77221612
104Hepatocellular necrosis (HP:0001404)1.75259666
105Acute encephalopathy (HP:0006846)1.74324101
106Type 2 muscle fiber atrophy (HP:0003554)1.74280243
107Abnormality of the calcaneus (HP:0008364)1.71540847
108Lower limb amyotrophy (HP:0007210)1.68817509
109Metatarsus adductus (HP:0001840)1.68377558
110Steppage gait (HP:0003376)1.58825654
111Muscle fiber atrophy (HP:0100295)1.58014951
112Nonprogressive disorder (HP:0003680)1.56563631
113Limited hip movement (HP:0008800)1.50511953
114Aplasia of the musculature (HP:0100854)1.48678442
115Ulnar deviation of finger (HP:0009465)1.48387564
116Paralysis (HP:0003470)1.46079455

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.99778993
2TTN6.50787020
3PHKG14.95663260
4PHKG24.95663260
5PDK43.21489579
6PDK33.21489579
7DMPK2.71626809
8MUSK2.52431626
9TRIB32.51942229
10NEK12.50309130
11NME12.45775069
12PINK12.34276328
13LMTK22.15541467
14BCKDK2.15175170
15PIK3CG2.04992842
16PDK22.03466958
17PIK3CA2.01535309
18PKN21.97547527
19MYLK1.95341398
20MAP2K31.81237726
21MAP3K71.56402460
22MAPK121.38500284
23STK241.38413522
24TIE11.22930321
25LIMK11.18991590
26MARK11.14441930
27EEF2K1.10836794
28CCNB11.00765598
29PRKAA10.96311551
30MOS0.96079657
31ZAK0.95149136
32MAP3K30.92648603
33MAPKAPK30.92239951
34PRKAA20.89821673
35ILK0.89189255
36CAMK2D0.87108343
37PRKD10.85047044
38ERBB30.80327915
39GRK70.78896684
40MAP2K40.75651580
41PAK30.74887021
42MAP3K50.73145959
43STK38L0.72639087
44TRPM70.69499188
45ROCK10.68588762
46MAP2K60.67674956
47RIPK10.67395986
48NEK90.60834175
49PKN10.60786248
50EPHB10.58605032
51AKT20.58149105
52INSRR0.54137928
53STK380.49215973
54CAMK2B0.47974868
55CAMK2G0.47566389
56TAOK10.43618979
57PRKACB0.43497516
58DYRK1B0.39851448
59STK40.39806502
60CDC42BPA0.38332513
61PDGFRA0.38101326
62FLT30.38000587
63KSR20.37167402
64MST1R0.37081451
65ICK0.36457784
66ROCK20.35616897
67CAMK40.35312345
68MAPK110.35290545
69SIK10.34421074
70CAMK2A0.33760327
71PRKACA0.32819793
72PDPK10.32477346
73MAP3K130.32238579
74WNK40.31954103
75LATS10.31842086
76LATS20.31621342
77EPHA30.30004373
78WNK10.29546120
79TAOK20.28722048
80MAP3K110.28272317
81TGFBR20.28054235
82DAPK30.27094844
83RPS6KL10.26573699
84RPS6KC10.26573699
85PTK60.26565711
86RPS6KB20.26297716
87PDK10.26177306
88PTK2B0.25746351
89PRKACG0.25154221
90MET0.23999143
91SGK10.23996931
92PRKG10.23342691
93AKT30.23267287
94RPS6KB10.22672939
95MAPK100.22122413
96NME20.22111913
97MTOR0.22109840
98RPS6KA30.21119640
99SGK20.20902182
100RPS6KA60.20237170
101RPS6KA10.20103660
102CAMK10.20089447
103MAPK70.19514994
104RAF10.18928797
105KDR0.16899666
106MARK20.16123380
107SGK30.15582025
108MAP3K10.13149537
109MAP2K10.12876908
110TBK10.12777245
111MARK30.11899462
112PRKD30.10923201
113PAK60.10846943
114MAPK40.10292894
115PRKCE0.09766963
116PRKCH0.09198498
117FER0.09189689
118STK110.07912105
119MAPK130.07149007
120MAP3K60.07011178
121FGFR30.05383425
122MAP3K100.04894993
123NLK0.04565749
124CAMK1G0.04515174
125PRKG20.04105320
126ZAP700.03987816

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.61189028
2Cardiac muscle contraction_Homo sapiens_hsa042604.30945108
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.21063675
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.08910035
5Dilated cardiomyopathy_Homo sapiens_hsa054143.89272880
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.15745542
7Propanoate metabolism_Homo sapiens_hsa006403.04528435
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.03570189
9Parkinsons disease_Homo sapiens_hsa050122.82671853
10Oxidative phosphorylation_Homo sapiens_hsa001902.68664857
11Carbon metabolism_Homo sapiens_hsa012002.48023538
12Fatty acid degradation_Homo sapiens_hsa000712.42199232
13Alzheimers disease_Homo sapiens_hsa050102.17379756
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.02945535
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.98597949
16Fatty acid metabolism_Homo sapiens_hsa012121.80973032
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.80809040
18Viral myocarditis_Homo sapiens_hsa054161.78892089
19Pyruvate metabolism_Homo sapiens_hsa006201.70784056
20Huntingtons disease_Homo sapiens_hsa050161.68062488
21Starch and sucrose metabolism_Homo sapiens_hsa005001.64131951
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.47429673
23Glucagon signaling pathway_Homo sapiens_hsa049221.45798439
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.42214300
25Insulin resistance_Homo sapiens_hsa049311.41304752
26Insulin signaling pathway_Homo sapiens_hsa049101.38546241
27Biosynthesis of amino acids_Homo sapiens_hsa012301.29471231
28Adipocytokine signaling pathway_Homo sapiens_hsa049201.26084913
29Oxytocin signaling pathway_Homo sapiens_hsa049211.14164929
30Nitrogen metabolism_Homo sapiens_hsa009101.11567610
31Butanoate metabolism_Homo sapiens_hsa006501.08160287
32cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06702771
33AMPK signaling pathway_Homo sapiens_hsa041521.06207988
34Calcium signaling pathway_Homo sapiens_hsa040201.05792305
35Circadian rhythm_Homo sapiens_hsa047101.01757995
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.00756795
37Galactose metabolism_Homo sapiens_hsa000520.93214429
38Arginine and proline metabolism_Homo sapiens_hsa003300.90744724
39PPAR signaling pathway_Homo sapiens_hsa033200.90474013
40Fructose and mannose metabolism_Homo sapiens_hsa000510.85854751
41Fatty acid elongation_Homo sapiens_hsa000620.85288509
42Tight junction_Homo sapiens_hsa045300.84412426
43Focal adhesion_Homo sapiens_hsa045100.80548326
44Arginine biosynthesis_Homo sapiens_hsa002200.79679439
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77691830
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.75202413
47HIF-1 signaling pathway_Homo sapiens_hsa040660.74879425
48beta-Alanine metabolism_Homo sapiens_hsa004100.63901006
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62698992
50Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61672902
51Fatty acid biosynthesis_Homo sapiens_hsa000610.60664384
52Type II diabetes mellitus_Homo sapiens_hsa049300.59978266
53Central carbon metabolism in cancer_Homo sapiens_hsa052300.58872460
54Lysine degradation_Homo sapiens_hsa003100.55904874
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54098659
56Long-term potentiation_Homo sapiens_hsa047200.52665301
57Gastric acid secretion_Homo sapiens_hsa049710.52273297
58Tryptophan metabolism_Homo sapiens_hsa003800.51736123
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49299311
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.48324123
61Renin secretion_Homo sapiens_hsa049240.46367529
62Salivary secretion_Homo sapiens_hsa049700.43654679
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42568284
64Insulin secretion_Homo sapiens_hsa049110.42517652
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40113200
66mTOR signaling pathway_Homo sapiens_hsa041500.39450964
67Pentose phosphate pathway_Homo sapiens_hsa000300.37403913
68GnRH signaling pathway_Homo sapiens_hsa049120.36555024
69Phenylalanine metabolism_Homo sapiens_hsa003600.35468839
70Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.35397661
71Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35051325
72ECM-receptor interaction_Homo sapiens_hsa045120.34782373
73FoxO signaling pathway_Homo sapiens_hsa040680.34543568
74Adherens junction_Homo sapiens_hsa045200.34049051
75Peroxisome_Homo sapiens_hsa041460.32489434
76VEGF signaling pathway_Homo sapiens_hsa043700.30674297
77Purine metabolism_Homo sapiens_hsa002300.30294409
78Amoebiasis_Homo sapiens_hsa051460.29145340
79cAMP signaling pathway_Homo sapiens_hsa040240.28323811
80Long-term depression_Homo sapiens_hsa047300.27959091
81Renal cell carcinoma_Homo sapiens_hsa052110.25712676
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.24672017
83ABC transporters_Homo sapiens_hsa020100.24576042
84Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24120529
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.23744220
86Metabolic pathways_Homo sapiens_hsa011000.22101561
87MAPK signaling pathway_Homo sapiens_hsa040100.20554218
88Cysteine and methionine metabolism_Homo sapiens_hsa002700.20347122
89Proteoglycans in cancer_Homo sapiens_hsa052050.20246667
90Platelet activation_Homo sapiens_hsa046110.20134690
91Melanogenesis_Homo sapiens_hsa049160.19889348
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.18152655
93Glioma_Homo sapiens_hsa052140.17434031
94Circadian entrainment_Homo sapiens_hsa047130.15727778
95Sulfur relay system_Homo sapiens_hsa041220.15253284
96Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.14988466
97Fat digestion and absorption_Homo sapiens_hsa049750.13291408
98Dorso-ventral axis formation_Homo sapiens_hsa043200.12628634
99Oocyte meiosis_Homo sapiens_hsa041140.10558252
100Pancreatic secretion_Homo sapiens_hsa049720.10049854
101Cholinergic synapse_Homo sapiens_hsa047250.06872502
102Gap junction_Homo sapiens_hsa045400.05839120
103AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.04661672
104Regulation of autophagy_Homo sapiens_hsa041400.03971205
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.02816356
106Ovarian steroidogenesis_Homo sapiens_hsa049130.02500357
107Glycerolipid metabolism_Homo sapiens_hsa005610.01620818
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.01275478
109Tyrosine metabolism_Homo sapiens_hsa003500.00993462
110Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.00412836
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.00055075
112Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.00039429
113Toxoplasmosis_Homo sapiens_hsa05145-0.0405535
114Bile secretion_Homo sapiens_hsa04976-0.0075661

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