NEBL

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: This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)8.06037169
2myofibril assembly (GO:0030239)6.64089416
3sarcomere organization (GO:0045214)6.54795395
4cardiac muscle contraction (GO:0060048)6.52775597
5actin-myosin filament sliding (GO:0033275)6.26653649
6muscle filament sliding (GO:0030049)6.26653649
7cardiac muscle tissue morphogenesis (GO:0055008)5.99442017
8cardiac muscle hypertrophy (GO:0003300)5.90231597
9negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.87627976
10regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.73541177
11cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.64346422
12striated muscle hypertrophy (GO:0014897)5.60262373
13ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.47353723
14cardiac muscle cell development (GO:0055013)5.46591727
15regulation of relaxation of muscle (GO:1901077)5.43540532
16regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.42365776
17actin-mediated cell contraction (GO:0070252)5.42301652
18negative regulation of potassium ion transmembrane transport (GO:1901380)5.39904797
19muscle tissue morphogenesis (GO:0060415)5.34932325
20negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.33955003
21regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.31129543
22cardiac cell development (GO:0055006)5.17548999
23cell communication by electrical coupling (GO:0010644)5.05645816
24regulation of sarcomere organization (GO:0060297)5.03785740
25adult heart development (GO:0007512)4.91219742
26muscle hypertrophy (GO:0014896)4.90604471
27positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.89055303
28regulation of the force of heart contraction (GO:0002026)4.88372025
29actomyosin structure organization (GO:0031032)4.86210798
30regulation of actin filament-based movement (GO:1903115)4.83074882
31striated muscle contraction (GO:0006941)4.81149064
32heart contraction (GO:0060047)4.79456639
33heart process (GO:0003015)4.79456639
34cell communication involved in cardiac conduction (GO:0086065)4.71005207
35ventricular cardiac muscle cell action potential (GO:0086005)4.65079864
36regulation of cardioblast differentiation (GO:0051890)4.60450268
37negative regulation of striated muscle cell apoptotic process (GO:0010664)4.47877957
38cardiac ventricle formation (GO:0003211)4.41525070
39regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.37270446
40regulation of striated muscle contraction (GO:0006942)4.31910449
41regulation of cell communication by electrical coupling (GO:0010649)4.24514426
42adrenergic receptor signaling pathway (GO:0071875)4.22155411
43bundle of His cell to Purkinje myocyte communication (GO:0086069)4.22054861
44regulation of membrane repolarization (GO:0060306)4.18771451
45heart trabecula formation (GO:0060347)4.18375640
46sodium ion export (GO:0071436)4.14960561
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.13533840
48actin filament-based movement (GO:0030048)4.13008229
49mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.11034444
50negative regulation of hormone biosynthetic process (GO:0032353)4.07660764
51tricarboxylic acid cycle (GO:0006099)4.04717577
52regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.01773045
53regulation of ATP catabolic process (GO:1903289)3.98344337
54negative regulation of protein localization to cell surface (GO:2000009)3.91400336
55relaxation of cardiac muscle (GO:0055119)3.90931519
56cardiac muscle hypertrophy in response to stress (GO:0014898)3.90593448
57muscle hypertrophy in response to stress (GO:0003299)3.90593448
58cardiac muscle adaptation (GO:0014887)3.90593448
59negative regulation of cytosolic calcium ion concentration (GO:0051481)3.85845339
60cardiac muscle cell action potential (GO:0086001)3.82684411
61cardiac muscle cell action potential involved in contraction (GO:0086002)3.79175150
62ATP synthesis coupled proton transport (GO:0015986)3.77089104
63energy coupled proton transport, down electrochemical gradient (GO:0015985)3.77089104
64membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.72528127
65cardiac conduction (GO:0061337)3.71705856
66relaxation of muscle (GO:0090075)3.69832533
67regulation of heart rate by cardiac conduction (GO:0086091)3.68531659
68regulation of cardiac muscle contraction (GO:0055117)3.63663949
69cellular response to epinephrine stimulus (GO:0071872)3.60604129
70regulation of heart rate (GO:0002027)3.60282414
71regulation of striated muscle cell apoptotic process (GO:0010662)3.58463559
72sarcoplasmic reticulum calcium ion transport (GO:0070296)3.53991694
73positive regulation of potassium ion transmembrane transport (GO:1901381)3.53789325
74response to epinephrine (GO:0071871)3.52359897
75regulation of cardiac muscle cell apoptotic process (GO:0010665)3.51984429
76negative regulation of hormone metabolic process (GO:0032351)3.50294474
77outflow tract septum morphogenesis (GO:0003148)3.49532765
78regulation of skeletal muscle contraction (GO:0014819)3.46105905
79positive regulation of heart rate (GO:0010460)3.44575133
80positive regulation of cardiac muscle tissue development (GO:0055025)3.44301447
81positive regulation of sodium ion transport (GO:0010765)3.43253629
82negative regulation of myotube differentiation (GO:0010832)3.39918116
83positive regulation of ATP catabolic process (GO:1903291)3.38918921
84positive regulation of ATPase activity (GO:0032781)3.38918921
85cardiac chamber formation (GO:0003207)3.38549472
86desmosome organization (GO:0002934)3.37957405
87regulation of heart contraction (GO:0008016)3.36843420
88positive regulation of heart contraction (GO:0045823)3.36313755
89response to caffeine (GO:0031000)3.35722592
90regulation of cardiac muscle cell contraction (GO:0086004)3.35225207
91membrane repolarization during action potential (GO:0086011)3.34787107
92positive regulation of cardiac muscle cell differentiation (GO:2000727)3.28128960
93ventricular cardiac muscle cell development (GO:0055015)3.27937117
94positive regulation of cardiac muscle tissue growth (GO:0055023)3.27799580
95regulation of calcium ion transmembrane transporter activity (GO:1901019)3.27452986
96regulation of calcium ion transmembrane transport (GO:1903169)3.27452986
97plasma membrane repair (GO:0001778)3.25746512
98gap junction assembly (GO:0016264)3.24692783
99atrioventricular valve morphogenesis (GO:0003181)3.23827872
100regulation of potassium ion transmembrane transporter activity (GO:1901016)3.23475634
101detection of calcium ion (GO:0005513)3.22432045
102regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.21354523
103positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.20748400
104cardiac muscle tissue development (GO:0048738)3.19929473
105regulation of glucocorticoid metabolic process (GO:0031943)3.18535652
106striated muscle cell development (GO:0055002)3.17117008
107neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.16585867
108positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15791786
109regulation of potassium ion transmembrane transport (GO:1901379)3.14744622
110respiratory electron transport chain (GO:0022904)3.14092772
111positive regulation of cardiac muscle cell proliferation (GO:0060045)3.14000710
112regulation of muscle contraction (GO:0006937)3.13443426
113negative regulation of potassium ion transport (GO:0043267)3.13366597
114atrial septum morphogenesis (GO:0060413)3.08928592
115regulation of acyl-CoA biosynthetic process (GO:0050812)3.07573912
116embryonic heart tube development (GO:0035050)3.06777474
117cellular sodium ion homeostasis (GO:0006883)3.06657474
118relaxation of smooth muscle (GO:0044557)3.06558144
119electron transport chain (GO:0022900)3.05995336
120regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.05576255
121cardiac right ventricle morphogenesis (GO:0003215)3.04728124
122carnitine shuttle (GO:0006853)3.03747343
123positive regulation of heart growth (GO:0060421)3.00663680
124mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.99985709
125cellular component maintenance (GO:0043954)2.99777627
126membrane repolarization (GO:0086009)2.98921631
127regulation of ATPase activity (GO:0043462)2.97811704
128multicellular organismal signaling (GO:0035637)2.97762319

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.36788714
2EP300_21415370_ChIP-Seq_HL-1_Mouse3.81798968
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.86252675
4GBX2_23144817_ChIP-Seq_PC3_Human2.73157888
5* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.60007845
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.51033917
7SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41740858
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.33371613
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.33371613
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.30930582
11ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.27427710
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.22475811
13* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.22449101
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.14804339
15ESR1_20079471_ChIP-ChIP_T-47D_Human2.12665983
16* EED_16625203_ChIP-ChIP_MESCs_Mouse2.12168207
17* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.09544867
18JARID2_20075857_ChIP-Seq_MESCs_Mouse2.07231701
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.06901908
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.01160790
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.89113516
22* EZH2_27294783_Chip-Seq_ESCs_Mouse1.80425397
23* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.79028233
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.76608556
25* SMAD4_21799915_ChIP-Seq_A2780_Human1.73058978
26* TBX20_22328084_ChIP-Seq_HEART_Mouse1.72190891
27* TBX20_22080862_ChIP-Seq_HEART_Mouse1.72190891
28MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.70865385
29EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.66666820
30TRIM28_21343339_ChIP-Seq_HEK293_Human1.63089805
31ISL1_27105846_Chip-Seq_CPCs_Mouse1.60187498
32DROSHA_22980978_ChIP-Seq_HELA_Human1.58565527
33* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56626230
34SUZ12_27294783_Chip-Seq_ESCs_Mouse1.54378232
35ZNF274_21170338_ChIP-Seq_K562_Hela1.53021347
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51284124
37SMAD_19615063_ChIP-ChIP_OVARY_Human1.50746382
38* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47421697
39* RARB_27405468_Chip-Seq_BRAIN_Mouse1.44677601
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.41520656
41* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39302932
42TAF15_26573619_Chip-Seq_HEK293_Human1.38015331
43* SMAD3_21741376_ChIP-Seq_EPCs_Human1.37120371
44BCAT_22108803_ChIP-Seq_LS180_Human1.36591126
45P300_19829295_ChIP-Seq_ESCs_Human1.36186139
46* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.35551300
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.35237661
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35087159
49CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.34598532
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.34461704
51PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.33660053
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.32596614
53CTNNB1_20460455_ChIP-Seq_HCT116_Human1.32493609
54ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.31350777
55AHR_22903824_ChIP-Seq_MCF-7_Human1.30976543
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.29461649
57CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28978260
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28893203
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.27847490
60REST_21632747_ChIP-Seq_MESCs_Mouse1.27579706
61AR_21572438_ChIP-Seq_LNCaP_Human1.26119478
62TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.25622830
63* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25411977
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.24363785
65* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.23474422
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.22286619
67TP53_16413492_ChIP-PET_HCT116_Human1.20482642
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.20288474
69BP1_19119308_ChIP-ChIP_Hs578T_Human1.19633841
70* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.19542588
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.19250099
72* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19046205
73* SMAD3_21741376_ChIP-Seq_HESCs_Human1.18658231
74* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18509808
75FOXM1_26456572_ChIP-Seq_MCF-7_Human1.18353276
76OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18280213
77UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.16516566
78* AR_19668381_ChIP-Seq_PC3_Human1.15010035
79TP53_18474530_ChIP-ChIP_U2OS_Human1.14805942
80NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14621368
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14621368
82STAT3_23295773_ChIP-Seq_U87_Human1.12320259
83RING1B_27294783_Chip-Seq_ESCs_Mouse1.11970028
84PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11888976
85* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11158509
86* WT1_19549856_ChIP-ChIP_CCG9911_Human1.09466671
87BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.09001812
88* SMAD4_21741376_ChIP-Seq_HESCs_Human1.08054592
89* TCF4_23295773_ChIP-Seq_U87_Human1.07313557
90* AR_25329375_ChIP-Seq_VCAP_Human1.05965561
91* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.05893500
92GATA1_22025678_ChIP-Seq_K562_Human1.05798656
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05675269
94CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.05619789
95VDR_22108803_ChIP-Seq_LS180_Human1.04480772
96MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03951206
97* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.03862431
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03534411
99FUS_26573619_Chip-Seq_HEK293_Human1.02623631
100ESR2_21235772_ChIP-Seq_MCF-7_Human1.02552572
101* REST_18959480_ChIP-ChIP_MESCs_Mouse1.01629521
102SOX9_24532713_ChIP-Seq_HFSC_Mouse1.00972998
103* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00952902
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00894962
105ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.00706524
106BMI1_23680149_ChIP-Seq_NPCS_Mouse1.00648039
107CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00602469
108FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.00542459
109PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.00474793
110RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.98559740
111SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97193690
112TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97133381
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94627421
114TCF4_18268006_ChIP-ChIP_LS174T_Human0.94086309
115RNF2_27304074_Chip-Seq_NSC_Mouse0.94058148
116* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93524016
117* GATA4_21415370_ChIP-Seq_HL-1_Mouse0.93101230
118YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92166407
119TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.92049475

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004084_abnormal_cardiac_muscle6.02737097
2MP0004215_abnormal_myocardial_fiber4.27752824
3MP0004036_abnormal_muscle_relaxation4.20366199
4MP0002837_dystrophic_cardiac_calcinosis4.14695017
5MP0000749_muscle_degeneration3.70799287
6MP0005330_cardiomyopathy3.45959127
7MP0002972_abnormal_cardiac_muscle3.35820022
8MP0000751_myopathy3.33942787
9MP0003646_muscle_fatigue3.03375704
10MP0008775_abnormal_heart_ventricle3.00386705
11MP0003137_abnormal_impulse_conducting2.86822568
12MP0004510_myositis2.76837577
13MP0004085_abnormal_heartbeat2.67960670
14MP0005620_abnormal_muscle_contractility2.66711795
15MP0006138_congestive_heart_failure2.56762744
16MP0004484_altered_response_of2.53577389
17MP0004087_abnormal_muscle_fiber2.43654206
18MP0001544_abnormal_cardiovascular_syste2.38981184
19MP0005385_cardiovascular_system_phenoty2.38981184
20MP0010630_abnormal_cardiac_muscle2.37019509
21MP0002127_abnormal_cardiovascular_syste2.24512607
22MP0004145_abnormal_muscle_electrophysio2.23909445
23MP0004859_abnormal_synaptic_plasticity2.22497643
24MP0003122_maternal_imprinting2.18395522
25MP0003828_pulmonary_edema2.17204450
26MP0002106_abnormal_muscle_physiology1.80774490
27MP0003221_abnormal_cardiomyocyte_apopto1.76643916
28MP0003880_abnormal_central_pattern1.70298402
29MP0003950_abnormal_plasma_membrane1.66447777
30MP0005451_abnormal_body_composition1.64355732
31MP0002269_muscular_atrophy1.51092084
32MP0005369_muscle_phenotype1.46121604
33MP0003635_abnormal_synaptic_transmissio1.43654282
34MP0003567_abnormal_fetal_cardiomyocyte1.37445522
35MP0002102_abnormal_ear_morphology1.36958442
36MP0005670_abnormal_white_adipose1.34601113
37MP0009745_abnormal_behavioral_response1.34257342
38MP0009384_cardiac_valve_regurgitation1.32228284
39MP0004233_abnormal_muscle_weight1.31918631
40MP0004130_abnormal_muscle_cell1.31911167
41MP0009046_muscle_twitch1.29178254
42MP0000750_abnormal_muscle_regeneration1.28676005
43MP0000747_muscle_weakness1.28494922
44MP0001968_abnormal_touch/_nociception1.25397826
45MP0002735_abnormal_chemical_nociception1.24099016
46MP0004272_abnormal_basement_membrane1.24049201
47MP0005248_abnormal_Harderian_gland1.22385082
48MP0010368_abnormal_lymphatic_system1.18889352
49MP0000759_abnormal_skeletal_muscle1.16018370
50MP0002736_abnormal_nociception_after1.11724289
51MP0002063_abnormal_learning/memory/cond1.10371456
52MP0002064_seizures1.09342850
53MP0000462_abnormal_digestive_system1.09294636
54MP0005623_abnormal_meninges_morphology1.07212632
55MP0001486_abnormal_startle_reflex1.06901231
56MP0001984_abnormal_olfaction1.06189062
57MP0003121_genomic_imprinting1.04879201
58MP0000266_abnormal_heart_morphology1.02717435
59MP0002272_abnormal_nervous_system0.98053792
60MP0002332_abnormal_exercise_endurance0.96757955
61MP0003123_paternal_imprinting0.96629889
62MP0002822_catalepsy0.93689189
63MP0002234_abnormal_pharynx_morphology0.93533328
64MP0001879_abnormal_lymphatic_vessel0.93378156
65MP0003941_abnormal_skin_development0.93176084
66MP0000230_abnormal_systemic_arterial0.91088244
67MP0001661_extended_life_span0.90956298
68MP0002572_abnormal_emotion/affect_behav0.90863506
69MP0006036_abnormal_mitochondrial_physio0.89884108
70MP0003878_abnormal_ear_physiology0.89305356
71MP0005377_hearing/vestibular/ear_phenot0.89305356
72MP0004270_analgesia0.87585629
73MP0005165_increased_susceptibility_to0.86566315
74MP0003045_fibrosis0.85484120
75MP0006035_abnormal_mitochondrial_morpho0.83452551
76MP0005386_behavior/neurological_phenoty0.80719739
77MP0004924_abnormal_behavior0.80719739
78MP0002734_abnormal_mechanical_nocicepti0.80587068
79MP0002909_abnormal_adrenal_gland0.78744398
80MP0000579_abnormal_nail_morphology0.78111599
81MP0001440_abnormal_grooming_behavior0.77660105
82MP0009780_abnormal_chondrocyte_physiolo0.76998769
83MP0005595_abnormal_vascular_smooth0.76936358
84MP0002067_abnormal_sensory_capabilities0.76640591
85MP0001485_abnormal_pinna_reflex0.75451164
86MP0003279_aneurysm0.74251869
87MP0002638_abnormal_pupillary_reflex0.74227671
88MP0003937_abnormal_limbs/digits/tail_de0.70766537
89MP0008569_lethality_at_weaning0.68056845
90MP0002128_abnormal_blood_circulation0.67917991
91MP0001529_abnormal_vocalization0.67255778
92MP0000537_abnormal_urethra_morphology0.63824225
93MP0002108_abnormal_muscle_morphology0.63799881
94MP0010234_abnormal_vibrissa_follicle0.62744892
95MP0006276_abnormal_autonomic_nervous0.62007083
96MP0001784_abnormal_fluid_regulation0.61069612
97MP0000767_abnormal_smooth_muscle0.59909694
98MP0005409_darkened_coat_color0.59528044
99MP0002925_abnormal_cardiovascular_devel0.59487741
100MP0001970_abnormal_pain_threshold0.58608980
101MP0002133_abnormal_respiratory_system0.58397322
102MP0005388_respiratory_system_phenotype0.58397322
103MP0001299_abnormal_eye_distance/0.53814493
104MP0000778_abnormal_nervous_system0.53148154
105MP0005646_abnormal_pituitary_gland0.52948639
106MP0000534_abnormal_ureter_morphology0.52725778
107MP0002009_preneoplasia0.51260496
108MP0005171_absent_coat_pigmentation0.50499622
109MP0003984_embryonic_growth_retardation0.50328348
110MP0002088_abnormal_embryonic_growth/wei0.50163385
111MP0003566_abnormal_cell_adhesion0.49269921
112MP0002184_abnormal_innervation0.48959690
113MP0005423_abnormal_somatic_nervous0.48475403
114MP0002733_abnormal_thermal_nociception0.48069080
115MP0004858_abnormal_nervous_system0.47951519
116MP0000516_abnormal_urinary_system0.47915646
117MP0005367_renal/urinary_system_phenotyp0.47915646
118MP0005187_abnormal_penis_morphology0.47855256
119MP0002557_abnormal_social/conspecific_i0.46921300
120MP0000566_synostosis0.45478829
121MP0000733_abnormal_muscle_development0.43218411
122MP0003634_abnormal_glial_cell0.42768396
123MP0001177_atelectasis0.40785685
124MP0003787_abnormal_imprinting0.40101945
125MP0002295_abnormal_pulmonary_circulatio0.39928929
126MP0003935_abnormal_craniofacial_develop0.39330324
127MP0005666_abnormal_adipose_tissue0.39087803
128MP0006072_abnormal_retinal_apoptosis0.38288366
129MP0003690_abnormal_glial_cell0.37953411
130MP0005503_abnormal_tendon_morphology0.37434045
131MP0010678_abnormal_skin_adnexa0.36776901

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.16429177
2Atrial fibrillation (HP:0005110)6.64588575
3Ventricular tachycardia (HP:0004756)6.31909597
4Primary atrial arrhythmia (HP:0001692)6.24500394
5Supraventricular tachycardia (HP:0004755)5.99805996
6Calf muscle hypertrophy (HP:0008981)5.98690462
7Exercise-induced muscle cramps (HP:0003710)5.88404511
8Supraventricular arrhythmia (HP:0005115)5.85147690
9Syncope (HP:0001279)5.41569636
10Muscle hypertrophy of the lower extremities (HP:0008968)5.30294027
11Exercise-induced myalgia (HP:0003738)5.07115325
12Lipoatrophy (HP:0100578)4.95410529
13Abnormality of the calf musculature (HP:0001430)4.88586927
14Subaortic stenosis (HP:0001682)4.87313733
15Abnormality of the left ventricular outflow tract (HP:0011103)4.87313733
16Prolonged QT interval (HP:0001657)4.78427543
17Right ventricular cardiomyopathy (HP:0011663)4.77599998
18Ventricular arrhythmia (HP:0004308)4.61589129
19Ventricular fibrillation (HP:0001663)4.09840587
20Double outlet right ventricle (HP:0001719)4.01922943
21Congenital malformation of the right heart (HP:0011723)4.01922943
22Dilated cardiomyopathy (HP:0001644)3.94064136
23Hyporeflexia of lower limbs (HP:0002600)3.92567444
24Bundle branch block (HP:0011710)3.77693253
25Abnormal EKG (HP:0003115)3.75606411
26Palpitations (HP:0001962)3.71572959
27Myoglobinuria (HP:0002913)3.67908462
28Left ventricular hypertrophy (HP:0001712)3.42828921
29Heart block (HP:0012722)3.41580786
30Hypoplastic left heart (HP:0004383)3.37094184
31EMG: myopathic abnormalities (HP:0003458)3.36322981
32Atrioventricular block (HP:0001678)3.17118833
33Abnormal atrioventricular conduction (HP:0005150)3.16121276
34Pheochromocytoma (HP:0002666)3.01883043
35Acute necrotizing encephalopathy (HP:0006965)2.99609419
36Patent foramen ovale (HP:0001655)2.98818028
37Muscle fiber splitting (HP:0003555)2.89241441
38Abnormal mitochondria in muscle tissue (HP:0008316)2.87951541
39Palmoplantar keratoderma (HP:0000982)2.77908680
40Centrally nucleated skeletal muscle fibers (HP:0003687)2.77766176
41Steppage gait (HP:0003376)2.76404502
42Neuroendocrine neoplasm (HP:0100634)2.68654014
43Asymmetric septal hypertrophy (HP:0001670)2.63549229
44Progressive macrocephaly (HP:0004481)2.58740958
45Hypoplastic heart (HP:0001961)2.58675954
46Focal motor seizures (HP:0011153)2.51339493
47Decreased circulating renin level (HP:0003351)2.48511524
48Rhabdomyolysis (HP:0003201)2.46208236
49Ragged-red muscle fibers (HP:0003200)2.46133941
50Distal lower limb muscle weakness (HP:0009053)2.44138041
51Abnormality of the foot musculature (HP:0001436)2.30778949
52Diaphragmatic weakness (HP:0009113)2.27715194
53Conjunctival hamartoma (HP:0100780)2.26288765
54Mitochondrial inheritance (HP:0001427)2.23863907
55Acute encephalopathy (HP:0006846)2.23653832
56Rimmed vacuoles (HP:0003805)2.23640910
57Hip contracture (HP:0003273)2.22643985
58Exercise intolerance (HP:0003546)2.16294067
59Periauricular skin pits (HP:0100277)2.15886367
60Preauricular pit (HP:0004467)2.15886367
61Myotonia (HP:0002486)2.15708411
62Increased CSF lactate (HP:0002490)2.14107435
63Increased serum pyruvate (HP:0003542)2.11647797
64Abnormality of glycolysis (HP:0004366)2.11647797
65Neoplasm of the adrenal gland (HP:0100631)2.11350695
66Bradycardia (HP:0001662)2.10593881
67Neck muscle weakness (HP:0000467)2.10538478
68Hepatic necrosis (HP:0002605)2.06102837
69Myokymia (HP:0002411)2.04237124
70Foot dorsiflexor weakness (HP:0009027)2.03161006
71Partial duplication of thumb phalanx (HP:0009944)2.01130732
72Sudden cardiac death (HP:0001645)2.00991423
73Abnormal ventriculo-arterial connection (HP:0011563)1.90673693
74Transposition of the great arteries (HP:0001669)1.90673693
75Abnormal connection of the cardiac segments (HP:0011545)1.90673693
76Hepatocellular necrosis (HP:0001404)1.88399729
77Congestive heart failure (HP:0001635)1.86893943
78Limited hip movement (HP:0008800)1.85751336
79Areflexia of lower limbs (HP:0002522)1.82475820
80EMG: neuropathic changes (HP:0003445)1.81275875
81Generalized muscle weakness (HP:0003324)1.80313486
82Muscle stiffness (HP:0003552)1.79704373
83Truncus arteriosus (HP:0001660)1.79687093
84Hamartoma of the eye (HP:0010568)1.73240651
85Abnormality of the salivary glands (HP:0010286)1.72932085
86Pulmonary artery stenosis (HP:0004415)1.70230801
87Childhood onset (HP:0011463)1.69652876
88Partial duplication of the phalanx of hand (HP:0009999)1.69523524
89Skin pits (HP:0100276)1.68844298
90Muscular dystrophy (HP:0003560)1.67224296
91Toxemia of pregnancy (HP:0100603)1.65519878
92Bicuspid aortic valve (HP:0001647)1.63340020
93Cerebral edema (HP:0002181)1.62109566
94Mildly elevated creatine phosphokinase (HP:0008180)1.61858579
95Neoplasm of the peripheral nervous system (HP:0100007)1.61259971
96Respiratory failure (HP:0002878)1.60853743
97Aplasia involving bones of the extremities (HP:0009825)1.60752736
98Aplasia involving bones of the upper limbs (HP:0009823)1.60752736
99Aplasia of the phalanges of the hand (HP:0009802)1.60752736
100Type 1 muscle fiber predominance (HP:0003803)1.59661261
101Abnormality of the ischium (HP:0003174)1.58710069
102Central scotoma (HP:0000603)1.55590721
103Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.55493339
104Papillary thyroid carcinoma (HP:0002895)1.55267726
105Anxiety (HP:0000739)1.54543766
106Cerebral hemorrhage (HP:0001342)1.54475436
107Focal seizures (HP:0007359)1.53034844
108Dysmetric saccades (HP:0000641)1.51077583
109Difficulty running (HP:0009046)1.50422200
110Lactic acidosis (HP:0003128)1.50370677
111Coarctation of aorta (HP:0001680)1.49140421
112Febrile seizures (HP:0002373)1.49104434
113Ketoacidosis (HP:0001993)1.47360491
114X-linked dominant inheritance (HP:0001423)1.47035831
115Resting tremor (HP:0002322)1.46908962
116Pancreatic islet-cell hyperplasia (HP:0004510)1.46765021
117Lymphangioma (HP:0100764)1.46294638
118Abnormality of the tricuspid valve (HP:0001702)1.46038280
119Vitreoretinal degeneration (HP:0000655)1.38849955
120Maternal diabetes (HP:0009800)1.34928857
121Anomalous pulmonary venous return (HP:0010772)1.34291280
122Neonatal hypoglycemia (HP:0001998)1.34198594
123Skin nodule (HP:0200036)1.32947650
124Aneurysm (HP:0002617)1.32394155
125Late onset (HP:0003584)1.32227567
126Scapular winging (HP:0003691)1.29652528
127Visceral angiomatosis (HP:0100761)1.28551796
128Arterial tortuosity (HP:0005116)1.28426677
129Preaxial foot polydactyly (HP:0001841)1.28045554
130Hyperglycemia (HP:0003074)1.25521165

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.32448880
2MYLK4.45912835
3STK243.74323340
4FLT32.74408907
5ZAK2.45634990
6LMTK22.43691161
7DMPK2.39676534
8MUSK2.28473729
9PIK3CA2.20311450
10NTRK32.18739722
11PHKG22.16438352
12PHKG12.16438352
13EPHA42.08893142
14PKN21.90047004
15STK38L1.87435734
16TIE11.79548705
17CDC42BPA1.76179081
18PDK41.61973777
19PDK31.61973777
20LATS11.50614335
21TNIK1.42122373
22TTN1.35005880
23PRKD31.30534640
24LIMK11.29687468
25PTK2B1.28870439
26PAK31.25653210
27MAP3K41.23895813
28FRK1.23480209
29CAMK2D1.19978097
30MINK11.19738504
31ILK1.17618170
32ROCK11.16479182
33WNK41.12421772
34GRK71.11511866
35NEK91.10249400
36NEK11.09871333
37CAMK11.09572310
38FGFR21.09548606
39WNK11.08510654
40CAMK2A1.05447247
41STK391.04207335
42TRPM71.03109807
43PRPF4B1.01064695
44MAP2K71.00305512
45MAP3K91.00065874
46INSRR0.95806877
47PINK10.95250759
48PLK20.94696002
49STK380.94253412
50EPHB20.91955633
51PDK20.89374046
52MAP2K40.85555129
53PRKD10.84769582
54DAPK30.82184512
55AKT30.82129431
56MAP3K70.80815857
57RIPK10.80742074
58BCR0.80575497
59PRKCE0.78997184
60SGK20.76950591
61PDGFRA0.74806910
62EPHA30.74466043
63FER0.70351825
64STK40.69648766
65CASK0.69179332
66NTRK20.68958358
67MAPK130.67926210
68ROCK20.66955559
69MAP3K60.65436700
70MAPKAPK30.63987561
71NUAK10.62832221
72MAPK120.61701325
73PAK60.60889005
74MAPK70.60494736
75SGK2230.60381476
76SGK4940.60381476
77KSR10.60313838
78PKN10.59060861
79SGK30.54349620
80CAMK40.54276925
81PRKG10.54143905
82KSR20.54011262
83PRKCH0.53353430
84UHMK10.53315828
85PRKACA0.52927965
86CAMK2B0.52632381
87NLK0.51331355
88MAP3K50.51163490
89STK110.51043413
90PRKAA20.49777623
91CDK50.49496392
92SGK10.49362863
93CAMK2G0.48818242
94PRKACB0.48477200
95NTRK10.46226284
96DAPK20.45181853
97MAPK100.44727077
98STK30.43933245
99FGFR30.43282954
100ARAF0.42492834
101MAP3K20.41993782
102PRKCQ0.41731234
103FGFR10.41648644
104PRKAA10.41598811
105MAP3K120.40370416
106LATS20.39660520
107MARK10.38380437
108MET0.37508341
109PRKCG0.37441151
110GRK50.36883568
111BMPR20.34282942
112RET0.31176672
113PRKACG0.30939323
114TESK10.30093550
115MAP2K10.30077435
116PDGFRB0.29870943
117NEK60.29168308
118PDK10.28802568
119MAP3K130.28483410
120MARK30.28332122
121AKT20.28156867
122MAPK40.27253262
123ERBB30.26907899
124RPS6KA30.26430638
125CAMKK10.25213098
126DYRK1A0.21751465
127SCYL20.21672863
128PTK20.20987915

Predicted pathways (KEGG)

RankGene SetZ-score
1Cardiac muscle contraction_Homo sapiens_hsa042604.81589211
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.94599100
3Dilated cardiomyopathy_Homo sapiens_hsa054143.69906662
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.59817930
5Oxidative phosphorylation_Homo sapiens_hsa001902.83586918
6Parkinsons disease_Homo sapiens_hsa050122.81974765
7Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.57066878
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.44039430
9Alzheimers disease_Homo sapiens_hsa050102.28011144
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.11414766
11Circadian entrainment_Homo sapiens_hsa047132.01641266
12Huntingtons disease_Homo sapiens_hsa050161.91737007
13Nicotine addiction_Homo sapiens_hsa050331.79418758
14Olfactory transduction_Homo sapiens_hsa047401.75374169
15Calcium signaling pathway_Homo sapiens_hsa040201.64920683
16cGMP-PKG signaling pathway_Homo sapiens_hsa040221.64909178
17Long-term potentiation_Homo sapiens_hsa047201.60589170
18Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.56355257
19Oxytocin signaling pathway_Homo sapiens_hsa049211.53911808
20Glutamatergic synapse_Homo sapiens_hsa047241.45164823
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.43179830
22GABAergic synapse_Homo sapiens_hsa047271.40377380
23Morphine addiction_Homo sapiens_hsa050321.37137179
24Insulin secretion_Homo sapiens_hsa049111.33881090
25Amphetamine addiction_Homo sapiens_hsa050311.33867983
26Propanoate metabolism_Homo sapiens_hsa006401.33751792
27Renin secretion_Homo sapiens_hsa049241.30275122
28Vascular smooth muscle contraction_Homo sapiens_hsa042701.28743008
29Carbon metabolism_Homo sapiens_hsa012001.28488789
30Taste transduction_Homo sapiens_hsa047421.25735895
31Salivary secretion_Homo sapiens_hsa049701.22850130
32Dopaminergic synapse_Homo sapiens_hsa047281.22090165
33Gastric acid secretion_Homo sapiens_hsa049711.21355612
34cAMP signaling pathway_Homo sapiens_hsa040241.13800979
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.13607679
36Aldosterone synthesis and secretion_Homo sapiens_hsa049251.09837224
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.08224938
38Cholinergic synapse_Homo sapiens_hsa047251.07290764
39Glucagon signaling pathway_Homo sapiens_hsa049221.04460038
40Tight junction_Homo sapiens_hsa045301.04231077
41Serotonergic synapse_Homo sapiens_hsa047261.02488544
42Long-term depression_Homo sapiens_hsa047300.98471942
43Fatty acid degradation_Homo sapiens_hsa000710.92046607
44Phenylalanine metabolism_Homo sapiens_hsa003600.91627834
45Fatty acid metabolism_Homo sapiens_hsa012120.90675322
46Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.89860516
47HIF-1 signaling pathway_Homo sapiens_hsa040660.88133784
48Bile secretion_Homo sapiens_hsa049760.86368899
49Type II diabetes mellitus_Homo sapiens_hsa049300.86315458
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.85983328
51Synaptic vesicle cycle_Homo sapiens_hsa047210.83748693
52PPAR signaling pathway_Homo sapiens_hsa033200.80539173
53GnRH signaling pathway_Homo sapiens_hsa049120.80338131
54Mineral absorption_Homo sapiens_hsa049780.80209509
55Melanogenesis_Homo sapiens_hsa049160.80159065
56Axon guidance_Homo sapiens_hsa043600.78412602
57Circadian rhythm_Homo sapiens_hsa047100.77513872
58Focal adhesion_Homo sapiens_hsa045100.77319429
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.75283103
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.73988621
61Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.73872022
62Gap junction_Homo sapiens_hsa045400.72429288
63Adherens junction_Homo sapiens_hsa045200.71898107
64Pyruvate metabolism_Homo sapiens_hsa006200.71554745
65Arginine biosynthesis_Homo sapiens_hsa002200.68815351
66Central carbon metabolism in cancer_Homo sapiens_hsa052300.67847954
67Fatty acid elongation_Homo sapiens_hsa000620.66255892
68TGF-beta signaling pathway_Homo sapiens_hsa043500.63634403
69Insulin signaling pathway_Homo sapiens_hsa049100.58265899
70Arginine and proline metabolism_Homo sapiens_hsa003300.58077580
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57698674
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56977629
73AMPK signaling pathway_Homo sapiens_hsa041520.55757413
74Cocaine addiction_Homo sapiens_hsa050300.54787272
75Amoebiasis_Homo sapiens_hsa051460.54506421
76Protein digestion and absorption_Homo sapiens_hsa049740.54005573
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53424679
78Viral myocarditis_Homo sapiens_hsa054160.52960323
79Hedgehog signaling pathway_Homo sapiens_hsa043400.52933028
80Choline metabolism in cancer_Homo sapiens_hsa052310.52355312
81Insulin resistance_Homo sapiens_hsa049310.51703228
82Estrogen signaling pathway_Homo sapiens_hsa049150.49672888
83Pancreatic secretion_Homo sapiens_hsa049720.49512593
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47685155
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47466653
86Biosynthesis of amino acids_Homo sapiens_hsa012300.46801859
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.46577778
88beta-Alanine metabolism_Homo sapiens_hsa004100.46159547
89ECM-receptor interaction_Homo sapiens_hsa045120.45274715
90Dorso-ventral axis formation_Homo sapiens_hsa043200.45029889
91Oocyte meiosis_Homo sapiens_hsa041140.44812856
92Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44564903
93Rap1 signaling pathway_Homo sapiens_hsa040150.44450757
94Hippo signaling pathway_Homo sapiens_hsa043900.43748013
95Fatty acid biosynthesis_Homo sapiens_hsa000610.43658088
96Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42774477
97Histidine metabolism_Homo sapiens_hsa003400.40518280
98Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.40500578
99Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.40242257
100Wnt signaling pathway_Homo sapiens_hsa043100.40076412
101Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39874998
102Phospholipase D signaling pathway_Homo sapiens_hsa040720.39655608
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.38867589
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.38420495
105ErbB signaling pathway_Homo sapiens_hsa040120.38172087
106Inositol phosphate metabolism_Homo sapiens_hsa005620.36354278
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.35960699
108MAPK signaling pathway_Homo sapiens_hsa040100.34962943
109Basal cell carcinoma_Homo sapiens_hsa052170.34778546
110Thyroid hormone synthesis_Homo sapiens_hsa049180.34461170
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34244787
112Butanoate metabolism_Homo sapiens_hsa006500.33997877
113Leukocyte transendothelial migration_Homo sapiens_hsa046700.33617460
114Proteoglycans in cancer_Homo sapiens_hsa052050.33191380
115mTOR signaling pathway_Homo sapiens_hsa041500.32339605
116Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32291183
117Galactose metabolism_Homo sapiens_hsa000520.32218215
118Glioma_Homo sapiens_hsa052140.30879157
119Ovarian steroidogenesis_Homo sapiens_hsa049130.28096424
120Fructose and mannose metabolism_Homo sapiens_hsa000510.27702201
121Endometrial cancer_Homo sapiens_hsa052130.27670708
122Ras signaling pathway_Homo sapiens_hsa040140.27586978

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