OBSCN

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





Description: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* sarcomere organization (GO:0045214)9.14552554
2muscle filament sliding (GO:0030049)8.56875302
3actin-myosin filament sliding (GO:0033275)8.56875302
4cardiac myofibril assembly (GO:0055003)8.20444644
5myofibril assembly (GO:0030239)7.92235574
6regulation of skeletal muscle contraction (GO:0014819)7.59416310
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.52251861
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.42551512
9actin-mediated cell contraction (GO:0070252)7.08450526
10plasma membrane repair (GO:0001778)7.01587758
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.83547277
12negative regulation of potassium ion transmembrane transport (GO:1901380)6.75709771
13cardiac muscle contraction (GO:0060048)6.65673692
14regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.55729415
15sarcoplasmic reticulum calcium ion transport (GO:0070296)6.40839042
16cardiac muscle cell development (GO:0055013)6.31623053
17regulation of relaxation of muscle (GO:1901077)6.05393402
18cardiac cell development (GO:0055006)5.93077481
19regulation of actin filament-based movement (GO:1903115)5.89882309
20striated muscle contraction (GO:0006941)5.89300586
21* actomyosin structure organization (GO:0031032)5.78691145
22regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.78611710
23tricarboxylic acid cycle (GO:0006099)5.65630733
24adult heart development (GO:0007512)5.63933187
25regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.55852825
26ventricular cardiac muscle cell action potential (GO:0086005)5.54620298
27carnitine shuttle (GO:0006853)5.54244859
28cardiac muscle tissue morphogenesis (GO:0055008)5.52889177
29regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.51782915
30cardiac muscle hypertrophy (GO:0003300)5.40282140
31actin filament-based movement (GO:0030048)5.35591402
32bundle of His cell to Purkinje myocyte communication (GO:0086069)5.22283479
33striated muscle hypertrophy (GO:0014897)5.19081010
34regulation of cell communication by electrical coupling (GO:0010649)5.18356563
35regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.07072497
36response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.06845373
37skeletal muscle fiber development (GO:0048741)5.06782901
38ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.05291566
39muscle tissue morphogenesis (GO:0060415)5.04932626
40regulation of striated muscle contraction (GO:0006942)5.03742994
41skeletal muscle contraction (GO:0003009)5.03228495
42regulation of sarcomere organization (GO:0060297)4.84254183
43fatty acid transmembrane transport (GO:1902001)4.74528653
44myotube cell development (GO:0014904)4.73464877
45cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.61999971
46regulation of acyl-CoA biosynthetic process (GO:0050812)4.60684443
47muscle hypertrophy (GO:0014896)4.58530731
48heart contraction (GO:0060047)4.56695353
49heart process (GO:0003015)4.56695353
50heart trabecula formation (GO:0060347)4.56644602
51regulation of membrane repolarization (GO:0060306)4.56313434
52cell communication involved in cardiac conduction (GO:0086065)4.46910209
53regulation of the force of heart contraction (GO:0002026)4.29828752
54creatine metabolic process (GO:0006600)4.29429914
55regulation of coenzyme metabolic process (GO:0051196)4.17053079
56regulation of cofactor metabolic process (GO:0051193)4.17053079
57skeletal muscle tissue development (GO:0007519)4.16401960
58skeletal muscle adaptation (GO:0043501)4.15211317
59response to inactivity (GO:0014854)4.14376339
60positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.13945003
61carnitine transmembrane transport (GO:1902603)4.09464809
62muscle contraction (GO:0006936)4.08739953
63cardiac muscle cell action potential (GO:0086001)4.01833479
64regulation of cardiac muscle contraction (GO:0055117)3.97302209
65striated muscle cell development (GO:0055002)3.97084804
66cardiac muscle cell action potential involved in contraction (GO:0086002)3.95984234
67cell communication by electrical coupling (GO:0010644)3.94281077
68regulation of heart rate (GO:0002027)3.82799554
69glucan catabolic process (GO:0009251)3.81168119
70regulation of cardiac muscle cell contraction (GO:0086004)3.80112339
71muscle adaptation (GO:0043500)3.79914670
72negative regulation of protein localization to cell surface (GO:2000009)3.79575866
73skeletal muscle tissue regeneration (GO:0043403)3.78625300
74muscle system process (GO:0003012)3.78448768
75positive regulation of myotube differentiation (GO:0010831)3.76921425
76regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.76403083
77striated muscle adaptation (GO:0014888)3.74648413
78muscle atrophy (GO:0014889)3.73295679
79regulation of ATP catabolic process (GO:1903289)3.72699044
80regulation of ATPase activity (GO:0043462)3.72699044
81carnitine transport (GO:0015879)3.72389989
82amino-acid betaine transport (GO:0015838)3.72389989
83negative regulation of potassium ion transport (GO:0043267)3.70762469
84muscle organ development (GO:0007517)3.69644419
85cardiac muscle hypertrophy in response to stress (GO:0014898)3.69225855
86muscle hypertrophy in response to stress (GO:0003299)3.69225855
87cardiac muscle adaptation (GO:0014887)3.69225855
88muscle structure development (GO:0061061)3.68008759
89muscle cell cellular homeostasis (GO:0046716)3.65092163
90positive regulation of cation channel activity (GO:2001259)3.64261518
91muscle cell fate commitment (GO:0042693)3.61523316
922-oxoglutarate metabolic process (GO:0006103)3.61511766
93regulation of calcium ion transmembrane transport (GO:1903169)3.58108109
94regulation of calcium ion transmembrane transporter activity (GO:1901019)3.58108109
95glucan biosynthetic process (GO:0009250)3.57769316
96glycogen biosynthetic process (GO:0005978)3.57769316
97cellular polysaccharide catabolic process (GO:0044247)3.57684075
98NADH metabolic process (GO:0006734)3.57639122
99regulation of heart contraction (GO:0008016)3.52945610
100negative regulation of striated muscle cell apoptotic process (GO:0010664)3.44917561
101striated muscle atrophy (GO:0014891)3.44128604
102oxygen transport (GO:0015671)3.44112833
103negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.44025910
104muscle fiber development (GO:0048747)3.43269556
105relaxation of cardiac muscle (GO:0055119)3.43049763
106regulation of sequestering of triglyceride (GO:0010889)3.42843334
107regulation of muscle contraction (GO:0006937)3.42070229
108mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.41304673
109regulation of sulfur metabolic process (GO:0042762)3.40921582
110muscle cell development (GO:0055001)3.40361436
111positive regulation of heart rate (GO:0010460)3.40314658
112regulation of skeletal muscle cell differentiation (GO:2001014)3.39989363
113regulation of myoblast differentiation (GO:0045661)3.37115394
114response to muscle activity (GO:0014850)3.34801610
115cardiac conduction (GO:0061337)3.33182554
116regulation of muscle system process (GO:0090257)3.31520985
117glycogen catabolic process (GO:0005980)3.28810075
118positive regulation of heart contraction (GO:0045823)3.27256500
119regulation of heart rate by cardiac conduction (GO:0086091)3.25377013
120polysaccharide catabolic process (GO:0000272)3.18532223
121regulation of myotube differentiation (GO:0010830)3.14609441
122striated muscle tissue development (GO:0014706)3.14517907
123response to caffeine (GO:0031000)3.13852584
124myoblast fusion (GO:0007520)3.13720058
125membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.13481513
126positive regulation of myoblast differentiation (GO:0045663)3.08850082
127response to epinephrine (GO:0071871)3.06995243
128myotube differentiation (GO:0014902)3.06472649

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.92396508
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.52285871
3TBX20_22080862_ChIP-Seq_HEART_Mouse4.06314103
4TBX20_22328084_ChIP-Seq_HEART_Mouse4.06314103
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.76633448
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.53602998
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.47519313
8ZNF263_19887448_ChIP-Seq_K562_Human3.40947943
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.25324455
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.19968706
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.08837240
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.71095505
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.37392505
14EZH2_22144423_ChIP-Seq_EOC_Human2.30237557
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.21422759
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.18484135
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.14397252
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.12244278
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.04722597
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.03137862
21PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.96969379
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.92090433
23NFIB_24661679_ChIP-Seq_LUNG_Mouse1.75602081
24NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.67514438
25TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.66418245
26ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.64442097
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.62979098
28PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.61279949
29KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54565704
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.50968594
31CLOCK_20551151_ChIP-Seq_293T_Human1.48448501
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.47643919
33* CTCF_27219007_Chip-Seq_Bcells_Human1.38306723
34TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.35462868
35BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.35334901
36KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.31539506
37* KDM2B_26808549_Chip-Seq_DND41_Human1.29395060
38STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.27278127
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27133475
40FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.24809222
41RARB_27405468_Chip-Seq_BRAIN_Mouse1.24156164
42* DROSHA_22980978_ChIP-Seq_HELA_Human1.24084021
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.23819538
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.23228760
45PPARA_22158963_ChIP-Seq_LIVER_Mouse1.20954785
46* TP63_22573176_ChIP-Seq_HFKS_Human1.20581117
47NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.20358508
48PPAR_26484153_Chip-Seq_NCI-H1993_Human1.20187022
49GATA2_21666600_ChIP-Seq_HMVEC_Human1.18717887
50* EZH2_27294783_Chip-Seq_ESCs_Mouse1.18242384
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17534890
52ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17219085
53WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16827720
54RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.16688917
55LXR_22158963_ChIP-Seq_LIVER_Mouse1.16550874
56* LXR_22292898_ChIP-Seq_THP-1_Human1.14403295
57* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.13096388
58BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.12623745
59GATA1_19941826_ChIP-Seq_K562_Human1.12093338
60ELK3_25401928_ChIP-Seq_HUVEC_Human1.10131518
61RACK7_27058665_Chip-Seq_MCF-7_Human1.10070023
62ESR1_21235772_ChIP-Seq_MCF-7_Human1.09857396
63AR_21572438_ChIP-Seq_LNCaP_Human1.09055001
64SMC4_20622854_ChIP-Seq_HELA_Human1.07730686
65SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05749808
66SOX9_24532713_ChIP-Seq_HFSC_Mouse1.05230129
67RUNX1_27514584_Chip-Seq_MCF-7_Human1.04938620
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.03720129
69ISL1_27105846_Chip-Seq_CPCs_Mouse1.03589400
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.03319642
71SMC3_22415368_ChIP-Seq_MEFs_Mouse1.02211387
72KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01017296
73* MYC_27129775_Chip-Seq_CORNEA_Mouse1.00678307
74CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99742911
75P68_20966046_ChIP-Seq_HELA_Human0.99710432
76KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.96790302
77EZH2_18974828_ChIP-Seq_MESCs_Mouse0.95936015
78RNF2_18974828_ChIP-Seq_MESCs_Mouse0.95936015
79* ATF3_27146783_Chip-Seq_COLON_Human0.95611422
80STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.95301055
81CTCF_21964334_ChIP-Seq_BJAB-B_Human0.94721425
82GATA1_19941827_ChIP-Seq_MEL_Mouse0.94672558
83ZFP281_18757296_ChIP-ChIP_E14_Mouse0.94135524
84MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94134625
85FOXA2_19822575_ChIP-Seq_HepG2_Human0.94126742
86PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.93308908
87* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.92985631
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.92939747
89* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91934158
90NR3C1_23031785_ChIP-Seq_PC12_Mouse0.91101453
91* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90643861
92CTCF_21964334_Chip-Seq_Bcells_Human0.89678581
93GATA1_19941827_ChIP-Seq_MEL86_Mouse0.89636023
94JARID2_20075857_ChIP-Seq_MESCs_Mouse0.89578291
95RXR_22158963_ChIP-Seq_LIVER_Mouse0.88778377
96STAT6_21828071_ChIP-Seq_BEAS2B_Human0.88111779
97TP53_23651856_ChIP-Seq_MEFs_Mouse0.87456840
98* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.86612944
99MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86051156
100* OCT4_20526341_ChIP-Seq_ESCs_Human0.85957181
101DNAJC2_21179169_ChIP-ChIP_NT2_Human0.85267710
102P300_27058665_Chip-Seq_ZR-75-30cells_Human0.85176132
103VDR_21846776_ChIP-Seq_THP-1_Human0.84769669
104SMAD3_21741376_ChIP-Seq_HESCs_Human0.84711636
105* SPI1_20517297_ChIP-Seq_HL60_Human0.84658849
106GATA1_22025678_ChIP-Seq_K562_Human0.84579937
107PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84349750
108MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.84131606
109ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83503168
110* GATA2_19941826_ChIP-Seq_K562_Human0.82779570
111RBPJ_22232070_ChIP-Seq_NCS_Mouse0.82626248
112PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.82352174
113* RNF2_27304074_Chip-Seq_ESCs_Mouse0.82038897
114SPI1_23127762_ChIP-Seq_K562_Human0.81914748
115AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81669275
116CREB1_26743006_Chip-Seq_LNCaP_Human0.81575911
117* FOXH1_21741376_ChIP-Seq_ESCs_Human0.81543696
118P63_26484246_Chip-Seq_KERATINOCYTES_Human0.81379368
119STAT3_1855785_ChIP-Seq_MESCs_Mouse0.80753790
120TCF7_22412390_ChIP-Seq_EML_Mouse0.80588203
121ZNF274_21170338_ChIP-Seq_K562_Hela0.80583750
122SMC1_22415368_ChIP-Seq_MEFs_Mouse0.80556298
123* KDM2B_26808549_Chip-Seq_K562_Human0.80367113
124TRIM28_21343339_ChIP-Seq_HEK293_Human0.80344882
125* LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.80301918
126SMAD4_21741376_ChIP-Seq_HESCs_Human0.80058466
127HIF1A_21447827_ChIP-Seq_MCF-7_Human0.79578891
128WT1_25993318_ChIP-Seq_PODOCYTE_Human0.79522267
129* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78534944
130* CJUN_26792858_Chip-Seq_BT549_Human0.77869769
131YY1_22570637_ChIP-Seq_MALME-3M_Human0.77810179

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.87067392
2MP0003646_muscle_fatigue6.00193233
3MP0004084_abnormal_cardiac_muscle5.25915925
4* MP0000751_myopathy4.98064698
5MP0000749_muscle_degeneration4.56802223
6MP0004215_abnormal_myocardial_fiber4.54118583
7MP0004036_abnormal_muscle_relaxation4.33118073
8MP0005330_cardiomyopathy3.73256486
9MP0004145_abnormal_muscle_electrophysio3.36296525
10* MP0004087_abnormal_muscle_fiber3.24836148
11MP0000750_abnormal_muscle_regeneration3.07435373
12MP0002972_abnormal_cardiac_muscle2.95227301
13MP0005620_abnormal_muscle_contractility2.88354645
14* MP0002106_abnormal_muscle_physiology2.85999949
15MP0003137_abnormal_impulse_conducting2.72382521
16MP0002269_muscular_atrophy2.65296238
17MP0008775_abnormal_heart_ventricle2.65202345
18MP0004130_abnormal_muscle_cell2.64319260
19MP0000747_muscle_weakness2.56252698
20MP0010630_abnormal_cardiac_muscle2.53027578
21MP0005385_cardiovascular_system_phenoty2.41917890
22MP0001544_abnormal_cardiovascular_syste2.41917890
23MP0004484_altered_response_of2.34364313
24* MP0005369_muscle_phenotype2.32943814
25* MP0000759_abnormal_skeletal_muscle2.31862472
26MP0006138_congestive_heart_failure2.14339245
27MP0004510_myositis2.11892272
28MP0003828_pulmonary_edema1.95873651
29MP0003221_abnormal_cardiomyocyte_apopto1.91083949
30MP0004085_abnormal_heartbeat1.88156399
31MP0004233_abnormal_muscle_weight1.85918427
32MP0003950_abnormal_plasma_membrane1.66467994
33MP0002127_abnormal_cardiovascular_syste1.61713564
34MP0006036_abnormal_mitochondrial_physio1.61346864
35MP0002332_abnormal_exercise_endurance1.50507999
36MP0005666_abnormal_adipose_tissue1.48915193
37MP0005670_abnormal_white_adipose1.31908565
38MP0004270_analgesia1.23632261
39MP0001661_extended_life_span1.21292196
40MP0003567_abnormal_fetal_cardiomyocyte1.13597329
41MP0002108_abnormal_muscle_morphology1.12232708
42MP0004185_abnormal_adipocyte_glucose1.12088935
43MP0000343_altered_response_to1.09782188
44MP0002234_abnormal_pharynx_morphology1.09064093
45MP0000266_abnormal_heart_morphology1.08581870
46MP0000733_abnormal_muscle_development1.04506397
47MP0005375_adipose_tissue_phenotype1.02945221
48MP0010368_abnormal_lymphatic_system0.97591312
49MP0005165_increased_susceptibility_to0.92172345
50MP0003279_aneurysm0.91955113
51MP0006035_abnormal_mitochondrial_morpho0.91930288
52MP0003705_abnormal_hypodermis_morpholog0.82991449
53MP0005266_abnormal_metabolism0.81628572
54MP0002128_abnormal_blood_circulation0.75985816
55MP0005623_abnormal_meninges_morphology0.69519396
56MP0000230_abnormal_systemic_arterial0.68337671
57MP0002971_abnormal_brown_adipose0.67789573
58MP0003566_abnormal_cell_adhesion0.67531055
59MP0000013_abnormal_adipose_tissue0.64233781
60MP0002822_catalepsy0.61607723
61MP0003806_abnormal_nucleotide_metabolis0.59012613
62MP0005275_abnormal_skin_tensile0.57828403
63MP0000003_abnormal_adipose_tissue0.57724430
64MP0000767_abnormal_smooth_muscle0.56206641
65MP0001879_abnormal_lymphatic_vessel0.55933715
66MP0005451_abnormal_body_composition0.54555705
67MP0002909_abnormal_adrenal_gland0.54129789
68MP0003045_fibrosis0.50508563
69MP0003879_abnormal_hair_cell0.49125468
70MP0005187_abnormal_penis_morphology0.47657637
71MP0008961_abnormal_basal_metabolism0.46949182
72MP0010030_abnormal_orbit_morphology0.46471561
73MP0005409_darkened_coat_color0.46235172
74MP0008438_abnormal_cutaneous_collagen0.45858325
75MP0002249_abnormal_larynx_morphology0.45710117
76MP0002078_abnormal_glucose_homeostasis0.45669040
77MP0004043_abnormal_pH_regulation0.45036181
78MP0004147_increased_porphyrin_level0.44871921
79MP0005319_abnormal_enzyme/_coenzyme0.42921114
80MP0002925_abnormal_cardiovascular_devel0.42583677
81MP0004134_abnormal_chest_morphology0.41425207
82MP0002114_abnormal_axial_skeleton0.39785518
83MP0004272_abnormal_basement_membrane0.39250516
84MP0005334_abnormal_fat_pad0.34484296
85MP0005423_abnormal_somatic_nervous0.34024625
86MP0001784_abnormal_fluid_regulation0.33786384
87MP0000762_abnormal_tongue_morphology0.33638375
88MP0003948_abnormal_gas_homeostasis0.33433720
89MP0002896_abnormal_bone_mineralization0.33018815
90MP0001614_abnormal_blood_vessel0.32212206
91MP0002638_abnormal_pupillary_reflex0.31253755
92MP0004858_abnormal_nervous_system0.30348019
93MP0003984_embryonic_growth_retardation0.28704042
94MP0004381_abnormal_hair_follicle0.28445248
95MP0002009_preneoplasia0.27955899
96MP0005535_abnormal_body_temperature0.27844420
97MP0003656_abnormal_erythrocyte_physiolo0.27591587
98MP0002088_abnormal_embryonic_growth/wei0.27559091
99MP0001943_abnormal_respiration0.27532260
100MP0009115_abnormal_fat_cell0.26358819
101MP0009780_abnormal_chondrocyte_physiolo0.25050635
102MP0000579_abnormal_nail_morphology0.24648885
103MP0001849_ear_inflammation0.23796797
104MP0003091_abnormal_cell_migration0.22912128
105MP0009384_cardiac_valve_regurgitation0.22101875
106MP0004197_abnormal_fetal_growth/weight/0.21954652
107MP0009250_abnormal_appendicular_skeleto0.21769786
108MP0005595_abnormal_vascular_smooth0.20471075
109MP0002118_abnormal_lipid_homeostasis0.20224593
110MP0005452_abnormal_adipose_tissue0.19886857
111MP0001299_abnormal_eye_distance/0.19108147
112MP0001958_emphysema0.17842791
113MP0008569_lethality_at_weaning0.16937533
114MP0005167_abnormal_blood-brain_barrier0.16752777
115MP0002970_abnormal_white_adipose0.16730895
116MP0005083_abnormal_biliary_tract0.16447919
117MP0005584_abnormal_enzyme/coenzyme_acti0.16418063
118MP0001727_abnormal_embryo_implantation0.16345601
119MP0001853_heart_inflammation0.16159972
120MP0005386_behavior/neurological_phenoty0.16021424
121MP0004924_abnormal_behavior0.16021424
122MP0009672_abnormal_birth_weight0.15550518

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.92139723
2Calf muscle hypertrophy (HP:0008981)6.90637059
3Exercise-induced myalgia (HP:0003738)6.72226733
4Muscle hypertrophy of the lower extremities (HP:0008968)6.61840197
5Exercise-induced muscle cramps (HP:0003710)6.47011891
6Muscle fiber splitting (HP:0003555)6.45447499
7Ventricular tachycardia (HP:0004756)6.26422600
8Abnormality of the calf musculature (HP:0001430)5.65561046
9Hyporeflexia of lower limbs (HP:0002600)5.51692090
10Atrial fibrillation (HP:0005110)5.34313874
11Abnormality of the left ventricular outflow tract (HP:0011103)5.12256320
12Subaortic stenosis (HP:0001682)5.12256320
13Primary atrial arrhythmia (HP:0001692)4.99337260
14Myoglobinuria (HP:0002913)4.94843343
15Lipoatrophy (HP:0100578)4.93344206
16Supraventricular tachycardia (HP:0004755)4.82661828
17EMG: myopathic abnormalities (HP:0003458)4.81460457
18Muscle fiber inclusion bodies (HP:0100299)4.75698737
19Supraventricular arrhythmia (HP:0005115)4.73172676
20Right ventricular cardiomyopathy (HP:0011663)4.71866823
21Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.66049785
22Increased connective tissue (HP:0009025)4.57822641
23Difficulty running (HP:0009046)4.39018881
24Syncope (HP:0001279)4.37227248
25Type 1 muscle fiber predominance (HP:0003803)4.36863493
26Dilated cardiomyopathy (HP:0001644)4.16566810
27Bundle branch block (HP:0011710)4.15884916
28Calcaneovalgus deformity (HP:0001848)4.02764566
29Prolonged QT interval (HP:0001657)4.00083917
30Asymmetric septal hypertrophy (HP:0001670)3.98513484
31Myotonia (HP:0002486)3.89619590
32Nemaline bodies (HP:0003798)3.88925028
33Palpitations (HP:0001962)3.87632740
34Rhabdomyolysis (HP:0003201)3.84830562
35Ventricular arrhythmia (HP:0004308)3.72308596
36Deformed tarsal bones (HP:0008119)3.52883735
37Heart block (HP:0012722)3.50695306
38Difficulty climbing stairs (HP:0003551)3.49186741
39Atrioventricular block (HP:0001678)3.38725769
40Absent phalangeal crease (HP:0006109)3.34543690
41Abnormal atrioventricular conduction (HP:0005150)3.31926771
42Ventricular fibrillation (HP:0001663)3.27214319
43Malignant hyperthermia (HP:0002047)3.18144374
44Muscle stiffness (HP:0003552)3.03457257
45Increased variability in muscle fiber diameter (HP:0003557)3.02991370
46Neck muscle weakness (HP:0000467)3.02231856
47Abnormality of skeletal muscle fiber size (HP:0012084)2.99012272
48Distal arthrogryposis (HP:0005684)2.94218632
49Abnormal EKG (HP:0003115)2.87856242
50Areflexia of lower limbs (HP:0002522)2.85209404
51Fetal akinesia sequence (HP:0001989)2.82023729
52Abnormal finger flexion creases (HP:0006143)2.77966128
53Round ear (HP:0100830)2.75161625
54Distal lower limb muscle weakness (HP:0009053)2.73912567
55Rimmed vacuoles (HP:0003805)2.66861854
56Myopathic facies (HP:0002058)2.65647478
57Left ventricular hypertrophy (HP:0001712)2.58897884
58Mildly elevated creatine phosphokinase (HP:0008180)2.54528631
59Abnormality of the calcaneus (HP:0008364)2.51965383
60Limb-girdle muscle atrophy (HP:0003797)2.49216287
61Palmoplantar keratoderma (HP:0000982)2.45672438
62Testicular atrophy (HP:0000029)2.44086692
63Distal lower limb amyotrophy (HP:0008944)2.40057365
64EMG: neuropathic changes (HP:0003445)2.35671353
65Hyperkalemia (HP:0002153)2.35327780
66Muscular dystrophy (HP:0003560)2.34177680
67Hypoplastic ischia (HP:0003175)2.33232591
68Ketoacidosis (HP:0001993)2.30286495
69Weak cry (HP:0001612)2.25168240
70Gowers sign (HP:0003391)2.24549151
71Generalized muscle weakness (HP:0003324)2.23199245
72Slender build (HP:0001533)2.20774688
73Hepatic necrosis (HP:0002605)2.20172405
74Facial diplegia (HP:0001349)2.18768068
75Centrally nucleated skeletal muscle fibers (HP:0003687)2.18596597
76Ulnar deviation of the wrist (HP:0003049)2.14095088
77Abnormality of the foot musculature (HP:0001436)2.13418465
78Abnormal mitochondria in muscle tissue (HP:0008316)2.13013628
79Scapular winging (HP:0003691)2.12121897
80Acute necrotizing encephalopathy (HP:0006965)2.06344693
81Abnormality of the ischium (HP:0003174)2.02597554
82Frequent falls (HP:0002359)2.02271988
83Foot dorsiflexor weakness (HP:0009027)2.02130363
84Waddling gait (HP:0002515)2.02111621
85Hypoglycemic coma (HP:0001325)2.00164400
86Proximal amyotrophy (HP:0007126)1.97478183
87Increased muscle lipid content (HP:0009058)1.96387480
88Popliteal pterygium (HP:0009756)1.95797384
89Sudden cardiac death (HP:0001645)1.93527273
90Abnormality of the shoulder girdle musculature (HP:0001435)1.92642526
91Hepatocellular necrosis (HP:0001404)1.91054314
92Ragged-red muscle fibers (HP:0003200)1.91031368
93Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.90785044
94Conjunctival hamartoma (HP:0100780)1.90539197
95Progressive muscle weakness (HP:0003323)1.88818857
96Hip contracture (HP:0003273)1.87704882
97Lower limb amyotrophy (HP:0007210)1.85088742
98Congestive heart failure (HP:0001635)1.84072985
99Metatarsus adductus (HP:0001840)1.83132393
100Dysmetric saccades (HP:0000641)1.83103856
101Dicarboxylic aciduria (HP:0003215)1.80997953
102Abnormality of dicarboxylic acid metabolism (HP:0010995)1.80997953
103Abnormality of fatty-acid metabolism (HP:0004359)1.80309930
104Large for gestational age (HP:0001520)1.79762692
105Exercise intolerance (HP:0003546)1.78216659
106Abnormality of the neuromuscular junction (HP:0003398)1.78189384
107Fatigable weakness (HP:0003473)1.78189384
108Acute encephalopathy (HP:0006846)1.77152604
109Long clavicles (HP:0000890)1.76348143
110Limb-girdle muscle weakness (HP:0003325)1.73811046
111Spinal rigidity (HP:0003306)1.70787825
112Steppage gait (HP:0003376)1.70217922
113Limited hip movement (HP:0008800)1.69511597
114Respiratory insufficiency due to muscle weakness (HP:0002747)1.69412339
115Increased intramyocellular lipid droplets (HP:0012240)1.69168367
116Mitochondrial inheritance (HP:0001427)1.68855029
117Progressive macrocephaly (HP:0004481)1.68509760
118Bulbar palsy (HP:0001283)1.68248498
119Nonprogressive disorder (HP:0003680)1.59976849
120Ulnar deviation of finger (HP:0009465)1.47801950
121Aplasia of the musculature (HP:0100854)1.45714714
122Easy fatigability (HP:0003388)1.44553935
123Type 2 muscle fiber atrophy (HP:0003554)1.43849698

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.55446422
2TTN6.08508576
3PHKG24.44592826
4PHKG14.44592826
5DMPK3.17271745
6LMTK23.10730579
7PDK42.93593089
8PDK32.93593089
9MUSK2.84340683
10MYLK2.83775387
11TRIB32.63410615
12PKN22.56372118
13PIK3CA2.25787027
14BCKDK2.11055148
15NEK12.10917131
16PINK11.98656822
17EEF2K1.91909720
18TIE11.81465647
19PDK21.75722818
20STK241.47047818
21MAP3K71.37542942
22ZAK1.32840704
23MAP2K31.26808232
24NME11.26288035
25PIK3CG1.25886863
26MAPK121.20844887
27CAMK2D1.19545624
28PRKD11.19411651
29ILK1.10728041
30INSRR1.08866817
31PAK31.05786548
32GRK71.03306088
33MARK11.01953715
34MAPKAPK30.99331936
35RIPK10.98635221
36PRKAA20.91031153
37ROCK10.90356197
38PRKAA10.90260649
39MARK20.86183249
40MAP3K50.81095970
41TRPM70.79307505
42PKN10.78393536
43MAP3K30.77896220
44EPHB10.77576210
45PRPF4B0.77002505
46MAP3K60.76214215
47CDC42BPA0.74649058
48STK40.72876948
49MAP3K130.70690402
50SIK10.63295684
51FLT30.63044504
52WNK40.61738638
53PDGFRA0.60781248
54MAPK40.58778282
55DYRK1B0.57633301
56CAMK40.57582790
57STK38L0.57275042
58TGFBR20.56749472
59CCNB10.55493571
60MOS0.55208926
61STK380.54835435
62DAPK30.52734153
63ROCK20.51115690
64SGK20.50799248
65AKT20.50232956
66MAPK150.49354251
67CAMK2A0.48207106
68PRKACB0.47675746
69ICK0.46640283
70WNK10.46623210
71KSR20.45938205
72RPS6KC10.45348303
73RPS6KL10.45348303
74KDR0.43944400
75PTK2B0.43858596
76FGFR30.43260746
77MAP2K10.42287065
78NLK0.42229211
79CAMK10.41223640
80LIMK10.40719839
81NEK90.38997514
82CAMK2B0.38547605
83PTK60.38475126
84PRKACA0.37523393
85RPS6KA60.37505673
86MAPK100.36731915
87CAMK2G0.36688806
88ZAP700.35378349
89RPS6KB20.34601139
90MAP2K60.34579365
91MAP2K40.34187952
92PRKACG0.33639174
93CDK120.33228642
94PDPK10.32171028
95SGK2230.32044265
96SGK4940.32044265
97STK110.30764791
98PRKCE0.30615091
99LATS10.28047876
100MTOR0.26887168
101TAOK10.26187390
102PDK10.24824744
103RPS6KA10.24264564
104RPS6KB10.23779649
105PRKG10.23643197
106PRKCH0.22800748
107MAPK110.22404023
108TNK20.22081057
109MST1R0.20203922
110CAMK1G0.20082974
111SGK10.19983327
112SGK30.19554066
113TBK10.19333695
114RPS6KA30.19210622
115LATS20.18815348
116FER0.18471589
117MAPK80.18240443
118MAPK70.18108145
119RET0.17791895
120JAK10.17784974
121MAP3K100.17483084
122ERBB30.16426982
123FGFR40.15873944
124EPHB20.15329392
125PRKD30.15028005
126MARK30.14809816
127MAP3K10.14635180
128RPS6KA20.13451794
129MAP3K110.12727597
130CAMK1D0.11739275
131EPHA30.10228241
132PDGFRB0.10158650

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.46535347
2Cardiac muscle contraction_Homo sapiens_hsa042604.39022966
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.24377555
4Dilated cardiomyopathy_Homo sapiens_hsa054144.21129969
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.10675852
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.22488652
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.99585448
8Propanoate metabolism_Homo sapiens_hsa006402.98933994
9Parkinsons disease_Homo sapiens_hsa050122.65284545
10Fatty acid degradation_Homo sapiens_hsa000712.61108953
11Oxidative phosphorylation_Homo sapiens_hsa001902.49140484
12Carbon metabolism_Homo sapiens_hsa012002.30707963
13Alzheimers disease_Homo sapiens_hsa050102.03413955
14Viral myocarditis_Homo sapiens_hsa054161.99937058
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.99175398
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.96298189
17Fatty acid metabolism_Homo sapiens_hsa012121.95271561
18Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.88125505
19Pyruvate metabolism_Homo sapiens_hsa006201.61905060
20Huntingtons disease_Homo sapiens_hsa050161.54890948
21Insulin resistance_Homo sapiens_hsa049311.34339408
22Starch and sucrose metabolism_Homo sapiens_hsa005001.31718984
23Glucagon signaling pathway_Homo sapiens_hsa049221.26665550
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.25034968
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.22617179
26Adipocytokine signaling pathway_Homo sapiens_hsa049201.20447704
27Insulin signaling pathway_Homo sapiens_hsa049101.18110553
28Butanoate metabolism_Homo sapiens_hsa006501.18035790
29cGMP-PKG signaling pathway_Homo sapiens_hsa040221.14430784
30Biosynthesis of amino acids_Homo sapiens_hsa012301.09327580
31Fatty acid elongation_Homo sapiens_hsa000621.04488317
32PPAR signaling pathway_Homo sapiens_hsa033201.03238385
33Calcium signaling pathway_Homo sapiens_hsa040200.97730726
34Oxytocin signaling pathway_Homo sapiens_hsa049210.96087159
35Long-term potentiation_Homo sapiens_hsa047200.94690928
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.93215293
37AMPK signaling pathway_Homo sapiens_hsa041520.91810055
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.87416715
39Focal adhesion_Homo sapiens_hsa045100.85403457
40Lysine degradation_Homo sapiens_hsa003100.84729535
41Type II diabetes mellitus_Homo sapiens_hsa049300.82783259
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.75464793
43Arginine biosynthesis_Homo sapiens_hsa002200.75438180
44Tight junction_Homo sapiens_hsa045300.74160408
45HIF-1 signaling pathway_Homo sapiens_hsa040660.72911554
46Arginine and proline metabolism_Homo sapiens_hsa003300.71212809
47Galactose metabolism_Homo sapiens_hsa000520.70052982
48Tryptophan metabolism_Homo sapiens_hsa003800.69930902
49Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.68187501
50beta-Alanine metabolism_Homo sapiens_hsa004100.67720930
51Endometrial cancer_Homo sapiens_hsa052130.65980286
52Fatty acid biosynthesis_Homo sapiens_hsa000610.63431384
53Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.62269564
54Circadian rhythm_Homo sapiens_hsa047100.61713107
55Melanogenesis_Homo sapiens_hsa049160.59562600
56Renin secretion_Homo sapiens_hsa049240.59374910
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58882692
58Glioma_Homo sapiens_hsa052140.58618577
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.57112329
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56812316
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56597175
62Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55968133
63Fructose and mannose metabolism_Homo sapiens_hsa000510.55337399
64Insulin secretion_Homo sapiens_hsa049110.54109377
65Central carbon metabolism in cancer_Homo sapiens_hsa052300.53577644
66ECM-receptor interaction_Homo sapiens_hsa045120.53423317
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.53188181
68Gastric acid secretion_Homo sapiens_hsa049710.52589458
69Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.51988953
70Non-small cell lung cancer_Homo sapiens_hsa052230.50609800
71cAMP signaling pathway_Homo sapiens_hsa040240.46767839
72Long-term depression_Homo sapiens_hsa047300.46319520
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45987839
74Adherens junction_Homo sapiens_hsa045200.45751435
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.45574854
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45408948
77Phenylalanine metabolism_Homo sapiens_hsa003600.45123428
78Nitrogen metabolism_Homo sapiens_hsa009100.44655312
79Thyroid cancer_Homo sapiens_hsa052160.42806020
80Inositol phosphate metabolism_Homo sapiens_hsa005620.41920000
81Estrogen signaling pathway_Homo sapiens_hsa049150.41104653
82Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39682682
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.39566399
84Amoebiasis_Homo sapiens_hsa051460.39455182
85ErbB signaling pathway_Homo sapiens_hsa040120.37320887
86ABC transporters_Homo sapiens_hsa020100.35872955
87Circadian entrainment_Homo sapiens_hsa047130.35184199
88Choline metabolism in cancer_Homo sapiens_hsa052310.33994524
89Amphetamine addiction_Homo sapiens_hsa050310.33303107
90Peroxisome_Homo sapiens_hsa041460.32813903
91GnRH signaling pathway_Homo sapiens_hsa049120.32643422
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31446224
93VEGF signaling pathway_Homo sapiens_hsa043700.27564754
94Platelet activation_Homo sapiens_hsa046110.27132921
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.27119019
96mTOR signaling pathway_Homo sapiens_hsa041500.26581875
97Proteoglycans in cancer_Homo sapiens_hsa052050.25142734
98Leukocyte transendothelial migration_Homo sapiens_hsa046700.24076988
99Dorso-ventral axis formation_Homo sapiens_hsa043200.22897517
100Renal cell carcinoma_Homo sapiens_hsa052110.22210896
101Ovarian steroidogenesis_Homo sapiens_hsa049130.18893242
102Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.18644451
103FoxO signaling pathway_Homo sapiens_hsa040680.18430568
104Pancreatic secretion_Homo sapiens_hsa049720.18031280
105Cholinergic synapse_Homo sapiens_hsa047250.16307805
106Metabolic pathways_Homo sapiens_hsa011000.13672700
107Fat digestion and absorption_Homo sapiens_hsa049750.13669804
108MAPK signaling pathway_Homo sapiens_hsa040100.13513918
109Gap junction_Homo sapiens_hsa045400.11982619
110Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.11129611
111AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.10703416
112Tyrosine metabolism_Homo sapiens_hsa003500.09543535
113Bile secretion_Homo sapiens_hsa049760.09295257
114Notch signaling pathway_Homo sapiens_hsa043300.08823814
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.08570760
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.07321494
117Pentose phosphate pathway_Homo sapiens_hsa000300.06616830
118Toxoplasmosis_Homo sapiens_hsa051450.05901576
119Taste transduction_Homo sapiens_hsa047420.04964999
120Salivary secretion_Homo sapiens_hsa049700.04311909
121Acute myeloid leukemia_Homo sapiens_hsa052210.01905927

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