SORBS1

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 CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1carnitine shuttle (GO:0006853)5.30032695
2regulation of sequestering of triglyceride (GO:0010889)5.28269119
3sarcomere organization (GO:0045214)5.12190432
4regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.08925643
5fatty acid transmembrane transport (GO:1902001)5.06994228
6tricarboxylic acid cycle (GO:0006099)5.04494902
7cardiac myofibril assembly (GO:0055003)5.02787251
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.67588996
9regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.60793534
10regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.57954019
11negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.46979037
12regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.46329694
13cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.41506037
14myofibril assembly (GO:0030239)4.38454477
15negative regulation of potassium ion transmembrane transport (GO:1901380)4.29324320
16plasma membrane repair (GO:0001778)4.21571558
17cardiac muscle contraction (GO:0060048)4.20396389
18detection of calcium ion (GO:0005513)4.19688285
19biotin metabolic process (GO:0006768)4.08140269
20regulation of acyl-CoA biosynthetic process (GO:0050812)4.06930494
21cell communication by electrical coupling (GO:0010644)4.03546318
22carnitine transmembrane transport (GO:1902603)4.01197437
23NADH metabolic process (GO:0006734)3.96817982
24regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.94840658
25regulation of fatty acid oxidation (GO:0046320)3.94413721
26ventricular cardiac muscle cell action potential (GO:0086005)3.93314686
27positive regulation of fatty acid oxidation (GO:0046321)3.92178072
28cell communication involved in cardiac conduction (GO:0086065)3.83588983
29cGMP-mediated signaling (GO:0019934)3.78868723
30muscle filament sliding (GO:0030049)3.77136739
31actin-myosin filament sliding (GO:0033275)3.77136739
32regulation of actin filament-based movement (GO:1903115)3.75256777
33fatty acid beta-oxidation (GO:0006635)3.73836647
34positive regulation of fatty acid beta-oxidation (GO:0032000)3.70275957
35regulation of coenzyme metabolic process (GO:0051196)3.70068609
36regulation of cofactor metabolic process (GO:0051193)3.70068609
37regulation of relaxation of muscle (GO:1901077)3.68551243
38amino-acid betaine transport (GO:0015838)3.67060987
39carnitine transport (GO:0015879)3.67060987
40regulation of membrane repolarization (GO:0060306)3.65797958
41regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.59860516
42regulation of skeletal muscle contraction (GO:0014819)3.57044446
43regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.55470716
442-oxoglutarate metabolic process (GO:0006103)3.55291816
45cardiac muscle cell development (GO:0055013)3.50092029
46low-density lipoprotein particle clearance (GO:0034383)3.47906770
47brown fat cell differentiation (GO:0050873)3.44215357
48actomyosin structure organization (GO:0031032)3.43447702
49cardiac muscle hypertrophy (GO:0003300)3.40818546
50regulation of cell communication by electrical coupling (GO:0010649)3.37392415
51bundle of His cell to Purkinje myocyte communication (GO:0086069)3.35892489
52succinate metabolic process (GO:0006105)3.30565750
53lipid particle organization (GO:0034389)3.29931184
54cardiac cell development (GO:0055006)3.29363103
55regulation of the force of heart contraction (GO:0002026)3.29093833
56triglyceride catabolic process (GO:0019433)3.28203287
57activation of protein kinase A activity (GO:0034199)3.27000599
58striated muscle hypertrophy (GO:0014897)3.24351624
59membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.21789166
60actin-mediated cell contraction (GO:0070252)3.21453317
61negative regulation of cytosolic calcium ion concentration (GO:0051481)3.21419032
62striated muscle contraction (GO:0006941)3.20530567
63adult heart development (GO:0007512)3.17864227
64valine metabolic process (GO:0006573)3.17018871
65heart trabecula formation (GO:0060347)3.16887798
66fatty acid homeostasis (GO:0055089)3.14858279
67regulation of calcium ion transmembrane transport (GO:1903169)3.14018763
68regulation of calcium ion transmembrane transporter activity (GO:1901019)3.14018763
69cardiac muscle tissue morphogenesis (GO:0055008)3.13973668
70fatty acid catabolic process (GO:0009062)3.13961794
71cardiac muscle cell action potential (GO:0086001)3.12514436
72ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.10898783
73fatty acid oxidation (GO:0019395)3.10751213
74regulation of striated muscle contraction (GO:0006942)3.09824916
75lipid oxidation (GO:0034440)3.09401872
76acylglycerol catabolic process (GO:0046464)3.07743918
77neutral lipid catabolic process (GO:0046461)3.07743918
78sarcoplasmic reticulum calcium ion transport (GO:0070296)3.06782752
79branched-chain amino acid catabolic process (GO:0009083)3.06330581
80regulation of sulfur metabolic process (GO:0042762)3.05957279
81cardiac muscle cell action potential involved in contraction (GO:0086002)3.04811255
82cardiac muscle adaptation (GO:0014887)3.04535882
83cardiac muscle hypertrophy in response to stress (GO:0014898)3.04535882
84muscle hypertrophy in response to stress (GO:0003299)3.04535882
85regulation of fatty acid beta-oxidation (GO:0031998)3.03545467
86response to inactivity (GO:0014854)3.00786356
87oxaloacetate metabolic process (GO:0006107)2.95379405
88regulation of cardiac muscle cell contraction (GO:0086004)2.94090083
89acetyl-CoA metabolic process (GO:0006084)2.93388686
90positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.91804196
91cellular response to monoamine stimulus (GO:0071868)2.88992886
92cellular response to catecholamine stimulus (GO:0071870)2.88992886
93* muscle contraction (GO:0006936)2.86726538
94tricarboxylic acid metabolic process (GO:0072350)2.86508290
95cellular response to epinephrine stimulus (GO:0071872)2.85218752
96positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.84797917
97branched-chain amino acid metabolic process (GO:0009081)2.83233162
98actin filament-based movement (GO:0030048)2.82629948
99muscle tissue morphogenesis (GO:0060415)2.82494295
100regulation of cardiac muscle contraction (GO:0055117)2.82162888
101regulation of cAMP-dependent protein kinase activity (GO:2000479)2.81411180
102neuronal ion channel clustering (GO:0045161)2.81187981
103sodium ion export (GO:0071436)2.80621614
104muscle hypertrophy (GO:0014896)2.80208414
105quaternary ammonium group transport (GO:0015697)2.78504116
106regulation of lipoprotein metabolic process (GO:0050746)2.78501782
107adrenergic receptor signaling pathway (GO:0071875)2.78127425
108neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.78032968
109response to epinephrine (GO:0071871)2.77385605
110regulation of heart rate (GO:0002027)2.74762685
111lysine metabolic process (GO:0006553)2.74725264
112lysine catabolic process (GO:0006554)2.74725264
113positive regulation of vascular permeability (GO:0043117)2.74330349
114white fat cell differentiation (GO:0050872)2.73667019
115response to catecholamine (GO:0071869)2.73556969
116response to monoamine (GO:0071867)2.73556969
117response to dietary excess (GO:0002021)2.72352112
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.72282067
119intracellular lipid transport (GO:0032365)2.70342290
120cellular potassium ion homeostasis (GO:0030007)2.70031701
121negative regulation of potassium ion transport (GO:0043267)2.69141774
122negative regulation of calcium ion transmembrane transport (GO:1903170)2.68134136
123negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.68134136
124creatine metabolic process (GO:0006600)2.66383541
125aspartate family amino acid catabolic process (GO:0009068)2.66211792
126relaxation of cardiac muscle (GO:0055119)2.66029774
127positive regulation of sodium ion transport (GO:0010765)2.65155256
128regulation of heart contraction (GO:0008016)2.64940737
129response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.64673853
130* muscle system process (GO:0003012)2.64613237
131positive regulation of potassium ion transport (GO:0043268)2.58843339
132regulation of cation channel activity (GO:2001257)2.58126898
133cardiac conduction (GO:0061337)2.56725105
134positive regulation of cation channel activity (GO:2001259)2.55464121
135regulation of sodium ion transmembrane transport (GO:1902305)2.54382356
136negative regulation of protein localization to cell surface (GO:2000009)2.54181048
137regulation of voltage-gated calcium channel activity (GO:1901385)2.53255553
138relaxation of muscle (GO:0090075)2.53132898
139myelination in peripheral nervous system (GO:0022011)2.52573537

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.57160427
2EZH2_22144423_ChIP-Seq_EOC_Human3.37271065
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.15796169
4* EP300_21415370_ChIP-Seq_HL-1_Mouse2.74971228
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.15612758
6CLOCK_20551151_ChIP-Seq_293T_Human2.03736854
7* TBX20_22080862_ChIP-Seq_HEART_Mouse2.02229197
8* TBX20_22328084_ChIP-Seq_HEART_Mouse2.02229197
9ESR1_20079471_ChIP-ChIP_T-47D_Human2.00973628
10GBX2_23144817_ChIP-Seq_PC3_Human1.95984252
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.95967462
12NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.91005541
13DROSHA_22980978_ChIP-Seq_HELA_Human1.82691047
14SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.79072421
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.75284573
16* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.74497613
17* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.74497613
18ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.73914223
19RARG_19884340_ChIP-ChIP_MEFs_Mouse1.70975682
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.69703464
21MTF2_20144788_ChIP-Seq_MESCs_Mouse1.65657624
22SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.65440730
23* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.62719183
24* LXR_22158963_ChIP-Seq_LIVER_Mouse1.52299461
25SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.50024518
26TRIM28_21343339_ChIP-Seq_HEK293_Human1.48366606
27FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.46498174
28CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.44557562
29TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43758161
30SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.43289963
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.41571995
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.39755303
33RXR_22158963_ChIP-Seq_LIVER_Mouse1.38066816
34NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37692254
35BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.36770866
36EED_16625203_ChIP-ChIP_MESCs_Mouse1.35152963
37* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.34698425
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.34631147
39EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.34279557
40JARID2_20075857_ChIP-Seq_MESCs_Mouse1.33636072
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.33556381
42JARID2_20064375_ChIP-Seq_MESCs_Mouse1.32884969
43PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.29926800
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25495710
45ZNF263_19887448_ChIP-Seq_K562_Human1.25241664
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.24750175
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.24654323
48SMAD_19615063_ChIP-ChIP_OVARY_Human1.23920808
49ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.21704392
50* EZH2_27294783_Chip-Seq_ESCs_Mouse1.21324438
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.20157897
52BCAT_22108803_ChIP-Seq_LS180_Human1.19782440
53MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.19601777
54* SOX2_21211035_ChIP-Seq_LN229_Gbm1.18225872
55AR_21572438_ChIP-Seq_LNCaP_Human1.17831588
56* SMAD4_21799915_ChIP-Seq_A2780_Human1.16278641
57RNF2_27304074_Chip-Seq_ESCs_Mouse1.16060439
58* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15738058
59YAP1_20516196_ChIP-Seq_MESCs_Mouse1.14724598
60AHR_22903824_ChIP-Seq_MCF-7_Human1.14289829
61* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14014383
62THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.13493254
63PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12977278
64MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11100437
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10557512
66* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.10171316
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09793473
68* REST_21632747_ChIP-Seq_MESCs_Mouse1.09189334
69* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06278996
70SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05717066
71GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.04688976
72SUZ12_27294783_Chip-Seq_ESCs_Mouse1.04475133
73CBX2_27304074_Chip-Seq_ESCs_Mouse1.04287099
74RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04262446
75CJUN_26792858_Chip-Seq_BT549_Human1.04202064
76* FOXA2_19822575_ChIP-Seq_HepG2_Human1.03590733
77GATA2_21666600_ChIP-Seq_HMVEC_Human1.03224649
78RARB_27405468_Chip-Seq_BRAIN_Mouse1.03189666
79NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03040727
80SMAD4_21741376_ChIP-Seq_HESCs_Human1.03002223
81ISL1_27105846_Chip-Seq_CPCs_Mouse1.02647041
82MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.01743443
83RING1B_27294783_Chip-Seq_ESCs_Mouse1.01689627
84NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01318814
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00250304
86ARNT_22903824_ChIP-Seq_MCF-7_Human0.98515274
87* TCF4_23295773_ChIP-Seq_U87_Human0.97696675
88SMAD3_21741376_ChIP-Seq_EPCs_Human0.97642445
89NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.96208197
90* AR_19668381_ChIP-Seq_PC3_Human0.96201423
91TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95904363
92SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95268715
93CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95166398
94TCF4_18268006_ChIP-ChIP_LS174T_Human0.95056738
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94645478
96SMAD3_21741376_ChIP-Seq_HESCs_Human0.93774562
97TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93587685
98RXR_22108803_ChIP-Seq_LS180_Human0.93579556
99NRF2_20460467_ChIP-Seq_MEFs_Mouse0.93558942
100NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.93558942
101SOX9_24532713_ChIP-Seq_HFSC_Mouse0.93493049
102GATA1_22025678_ChIP-Seq_K562_Human0.92863057
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.92012451
104PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90992251
105* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90422611
106CTBP2_25329375_ChIP-Seq_LNCAP_Human0.90186683
107SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89751871
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.89043533
109AR_25329375_ChIP-Seq_VCAP_Human0.88710963
110SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.88613067
111TOP2B_26459242_ChIP-Seq_MCF-7_Human0.88378333
112STAT3_23295773_ChIP-Seq_U87_Human0.88357588
113* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86611942
114KDM2B_26808549_Chip-Seq_K562_Human0.86435947
115ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.84710801
116* REST_18959480_ChIP-ChIP_MESCs_Mouse0.84631974
117PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83962594
118* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83728925
119* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82799975
120EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.82010188
121PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.81159940
122EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.80352110

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.27732781
2MP0003646_muscle_fatigue4.51996006
3MP0000751_myopathy4.24207985
4MP0004215_abnormal_myocardial_fiber3.99913020
5MP0004084_abnormal_cardiac_muscle3.86374489
6MP0004130_abnormal_muscle_cell3.75275038
7* MP0005670_abnormal_white_adipose3.24417326
8MP0004036_abnormal_muscle_relaxation2.98837639
9MP0000749_muscle_degeneration2.90148484
10MP0005330_cardiomyopathy2.87392345
11* MP0005666_abnormal_adipose_tissue2.59988168
12MP0008775_abnormal_heart_ventricle2.48272113
13MP0002972_abnormal_cardiac_muscle2.46161786
14MP0004087_abnormal_muscle_fiber2.45547998
15MP0006138_congestive_heart_failure2.40077924
16MP0005620_abnormal_muscle_contractility2.37761139
17MP0000013_abnormal_adipose_tissue2.22855532
18MP0000750_abnormal_muscle_regeneration2.20282462
19MP0005385_cardiovascular_system_phenoty2.14800482
20MP0001544_abnormal_cardiovascular_syste2.14800482
21MP0003137_abnormal_impulse_conducting2.14749721
22MP0004185_abnormal_adipocyte_glucose2.11120660
23* MP0005375_adipose_tissue_phenotype2.02386892
24MP0004484_altered_response_of1.97615790
25MP0010630_abnormal_cardiac_muscle1.82139230
26MP0002269_muscular_atrophy1.77416267
27MP0008438_abnormal_cutaneous_collagen1.76370493
28MP0002106_abnormal_muscle_physiology1.76084793
29MP0000003_abnormal_adipose_tissue1.75070612
30MP0002971_abnormal_brown_adipose1.69354246
31MP0003950_abnormal_plasma_membrane1.66758648
32MP0003828_pulmonary_edema1.66302234
33MP0004085_abnormal_heartbeat1.65326591
34MP0000759_abnormal_skeletal_muscle1.61610955
35MP0009780_abnormal_chondrocyte_physiolo1.55364241
36MP0000747_muscle_weakness1.54262563
37MP0004145_abnormal_muscle_electrophysio1.50775850
38MP0005369_muscle_phenotype1.50716251
39MP0005423_abnormal_somatic_nervous1.43856501
40MP0002332_abnormal_exercise_endurance1.40255894
41MP0004233_abnormal_muscle_weight1.39899495
42MP0004272_abnormal_basement_membrane1.34941763
43MP0001984_abnormal_olfaction1.33310955
44MP0003705_abnormal_hypodermis_morpholog1.32260734
45MP0002909_abnormal_adrenal_gland1.31532043
46MP0005503_abnormal_tendon_morphology1.30003244
47MP0001486_abnormal_startle_reflex1.28457149
48MP0010329_abnormal_lipoprotein_level1.23699345
49MP0002127_abnormal_cardiovascular_syste1.20209966
50MP0003221_abnormal_cardiomyocyte_apopto1.19345073
51MP0002272_abnormal_nervous_system1.18201236
52MP0002064_seizures1.17514644
53MP0006036_abnormal_mitochondrial_physio1.17124112
54MP0003279_aneurysm1.16232775
55MP0003879_abnormal_hair_cell1.16224563
56MP0005275_abnormal_skin_tensile1.15835757
57MP0005334_abnormal_fat_pad1.15074205
58MP0002063_abnormal_learning/memory/cond1.11963467
59MP0009745_abnormal_behavioral_response1.11140230
60MP0004859_abnormal_synaptic_plasticity1.10311729
61* MP0009115_abnormal_fat_cell1.09704417
62MP0010368_abnormal_lymphatic_system1.09201669
63MP0005535_abnormal_body_temperature1.08588279
64MP0002108_abnormal_muscle_morphology1.03542398
65MP0003045_fibrosis1.01796526
66MP0003880_abnormal_central_pattern0.96585181
67MP0004858_abnormal_nervous_system0.96320461
68* MP0002118_abnormal_lipid_homeostasis0.96149698
69MP0000230_abnormal_systemic_arterial0.95971971
70MP0003690_abnormal_glial_cell0.94112784
71MP0005165_increased_susceptibility_to0.94055403
72MP0002734_abnormal_mechanical_nocicepti0.93679946
73MP0006276_abnormal_autonomic_nervous0.93620508
74MP0003191_abnormal_cellular_cholesterol0.92290670
75MP0002735_abnormal_chemical_nociception0.91698960
76MP0002876_abnormal_thyroid_physiology0.89651811
77MP0001502_abnormal_circadian_rhythm0.88196627
78MP0002970_abnormal_white_adipose0.87387128
79MP0004510_myositis0.86660454
80MP0000343_altered_response_to0.84545892
81MP0001958_emphysema0.83442313
82MP0002572_abnormal_emotion/affect_behav0.83166927
83MP0003868_abnormal_feces_composition0.82309084
84MP0005595_abnormal_vascular_smooth0.80324018
85MP0005448_abnormal_energy_balance0.80292387
86* MP0002078_abnormal_glucose_homeostasis0.79154272
87MP0005623_abnormal_meninges_morphology0.78578959
88MP0004147_increased_porphyrin_level0.77914121
89MP0000266_abnormal_heart_morphology0.76543928
90MP0003329_amyloid_beta_deposits0.76043168
91MP0001440_abnormal_grooming_behavior0.75395233
92MP0001879_abnormal_lymphatic_vessel0.74917836
93MP0001661_extended_life_span0.74308417
94MP0002822_catalepsy0.72665738
95MP0005386_behavior/neurological_phenoty0.72423286
96MP0004924_abnormal_behavior0.72423286
97MP0008961_abnormal_basal_metabolism0.71287564
98MP0004885_abnormal_endolymph0.70469055
99MP0005409_darkened_coat_color0.70418016
100MP0001970_abnormal_pain_threshold0.70235573
101MP0001501_abnormal_sleep_pattern0.69992668
102MP0005167_abnormal_blood-brain_barrier0.69840258
103MP0009384_cardiac_valve_regurgitation0.69728495
104MP0003566_abnormal_cell_adhesion0.68699524
105MP0000778_abnormal_nervous_system0.67447730
106MP0000920_abnormal_myelination0.66775987
107MP0005452_abnormal_adipose_tissue0.66346171
108MP0008569_lethality_at_weaning0.62526011
109MP0002128_abnormal_blood_circulation0.60980229
110MP0005266_abnormal_metabolism0.59269864
111MP0003635_abnormal_synaptic_transmissio0.57921139
112MP0005365_abnormal_bile_salt0.57665849
113MP0003948_abnormal_gas_homeostasis0.57417129
114MP0006035_abnormal_mitochondrial_morpho0.56735081
115MP0002295_abnormal_pulmonary_circulatio0.52790088
116MP0005319_abnormal_enzyme/_coenzyme0.52703315
117MP0004270_analgesia0.52515874
118MP0003959_abnormal_lean_body0.52139030
119MP0009046_muscle_twitch0.51943734
120MP0002638_abnormal_pupillary_reflex0.50874342
121MP0003633_abnormal_nervous_system0.49610794
122MP0005332_abnormal_amino_acid0.48417334
123MP0001299_abnormal_eye_distance/0.46246520

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.26379793
2Muscle fiber splitting (HP:0003555)5.12226617
3Ventricular tachycardia (HP:0004756)5.10611173
4Atrial fibrillation (HP:0005110)5.07289797
5Calf muscle hypertrophy (HP:0008981)4.84875872
6Primary atrial arrhythmia (HP:0001692)4.74826992
7Exercise-induced myalgia (HP:0003738)4.70115704
8Myoglobinuria (HP:0002913)4.68903853
9Lipoatrophy (HP:0100578)4.61671823
10Supraventricular tachycardia (HP:0004755)4.51835236
11Supraventricular arrhythmia (HP:0005115)4.47303150
12Right ventricular cardiomyopathy (HP:0011663)4.44359630
13Hyporeflexia of lower limbs (HP:0002600)4.41952828
14Muscle hypertrophy of the lower extremities (HP:0008968)4.31924357
15Abnormality of the calf musculature (HP:0001430)4.23636076
16Muscle fiber inclusion bodies (HP:0100299)4.17642714
17Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.14705086
18Bundle branch block (HP:0011710)4.10424146
19Nemaline bodies (HP:0003798)4.06116138
20Increased connective tissue (HP:0009025)4.01477728
21Syncope (HP:0001279)4.01294999
22Difficulty running (HP:0009046)3.95368352
23Exercise-induced muscle cramps (HP:0003710)3.90549784
24Prolonged QT interval (HP:0001657)3.80913808
25Dilated cardiomyopathy (HP:0001644)3.60472572
26Palpitations (HP:0001962)3.57592933
27Atrioventricular block (HP:0001678)3.57190291
28Heart block (HP:0012722)3.44007811
29Ventricular arrhythmia (HP:0004308)3.40647542
30Abnormality of the left ventricular outflow tract (HP:0011103)3.26593756
31Subaortic stenosis (HP:0001682)3.26593756
32EMG: myopathic abnormalities (HP:0003458)3.25042387
33EMG: neuropathic changes (HP:0003445)3.24919004
34Abnormal atrioventricular conduction (HP:0005150)3.23723064
35Rhabdomyolysis (HP:0003201)3.21507590
36Oligomenorrhea (HP:0000876)3.20117169
37Myotonia (HP:0002486)3.14262055
38Ketoacidosis (HP:0001993)3.12426540
39Hyperglycinuria (HP:0003108)3.11796039
40Increased variability in muscle fiber diameter (HP:0003557)3.06048608
41Asymmetric septal hypertrophy (HP:0001670)2.99294287
42Ventricular fibrillation (HP:0001663)2.94290712
43Rimmed vacuoles (HP:0003805)2.92714126
44Frequent falls (HP:0002359)2.91414941
45Hypoglycemic coma (HP:0001325)2.88849177
46Abnormal EKG (HP:0003115)2.86876392
47Difficulty climbing stairs (HP:0003551)2.79509650
48Abnormality of fatty-acid metabolism (HP:0004359)2.72447447
49Aortic aneurysm (HP:0004942)2.68283949
50Centrally nucleated skeletal muscle fibers (HP:0003687)2.67171545
51Type 1 muscle fiber predominance (HP:0003803)2.63615924
52Abnormality of skeletal muscle fiber size (HP:0012084)2.60514364
53Acanthosis nigricans (HP:0000956)2.58477032
54Myokymia (HP:0002411)2.56531977
55Insulin-resistant diabetes mellitus (HP:0000831)2.52460446
56Broad metatarsal (HP:0001783)2.52184933
57Abnormality of serine family amino acid metabolism (HP:0010894)2.51781555
58Abnormality of glycine metabolism (HP:0010895)2.51781555
59Left ventricular hypertrophy (HP:0001712)2.51430602
60Action tremor (HP:0002345)2.50844750
61Ketosis (HP:0001946)2.49673306
62Steppage gait (HP:0003376)2.44623373
63Focal motor seizures (HP:0011153)2.39967610
64Dicarboxylic aciduria (HP:0003215)2.33759638
65Abnormality of dicarboxylic acid metabolism (HP:0010995)2.33759638
66Hypoalphalipoproteinemia (HP:0003233)2.30057092
67Pheochromocytoma (HP:0002666)2.28746483
68Dysmetric saccades (HP:0000641)2.26733631
69Muscle stiffness (HP:0003552)2.24899089
70Facial diplegia (HP:0001349)2.18371188
71Testicular atrophy (HP:0000029)2.17041011
72Complement deficiency (HP:0004431)2.14101845
73Muscular dystrophy (HP:0003560)2.12537685
74Bradycardia (HP:0001662)2.10952450
75Hypertriglyceridemia (HP:0002155)2.09137799
76Increased muscle lipid content (HP:0009058)2.06713510
77Spinal rigidity (HP:0003306)2.04574482
78Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.04019425
79Abnormality of alanine metabolism (HP:0010916)2.04019425
80Hyperalaninemia (HP:0003348)2.04019425
81Hyperammonemia (HP:0001987)2.03392331
82Hepatic necrosis (HP:0002605)2.01668853
83Proximal amyotrophy (HP:0007126)2.00663057
84Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.00593827
85Lower limb amyotrophy (HP:0007210)1.99567231
86Mildly elevated creatine phosphokinase (HP:0008180)1.99382871
87Neck muscle weakness (HP:0000467)1.98882863
88Scapular winging (HP:0003691)1.98673878
89Focal seizures (HP:0007359)1.94289488
90Abnormal eating behavior (HP:0100738)1.94038133
91Central scotoma (HP:0000603)1.93806973
92Neuroendocrine neoplasm (HP:0100634)1.92339019
93Distal lower limb amyotrophy (HP:0008944)1.92108007
94Obstructive sleep apnea (HP:0002870)1.90820339
95Bulbar palsy (HP:0001283)1.90133295
96Hyperglycemia (HP:0003074)1.89061299
97Round ear (HP:0100830)1.87818910
98Hypoplastic ischia (HP:0003175)1.87792309
99Distal arthrogryposis (HP:0005684)1.87016930
100Palmoplantar keratoderma (HP:0000982)1.86682339
101Bone cyst (HP:0012062)1.85023349
102Limb-girdle muscle atrophy (HP:0003797)1.84365269
103Hamartoma of the eye (HP:0010568)1.83645930
104Gowers sign (HP:0003391)1.79668207
105Hyperinsulinemic hypoglycemia (HP:0000825)1.79189970
106Areflexia of lower limbs (HP:0002522)1.79137632
107Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.78100755
108Generalized muscle weakness (HP:0003324)1.77987169
109Foot dorsiflexor weakness (HP:0009027)1.77784456
110Neoplasm of the heart (HP:0100544)1.76766157
111Toxemia of pregnancy (HP:0100603)1.76140820
112Abnormality of the foot musculature (HP:0001436)1.74790799
113Skin nodule (HP:0200036)1.74640668
114Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.74291323
115Large hands (HP:0001176)1.73591620
116Abnormality of the ischium (HP:0003174)1.73416736
117Distal lower limb muscle weakness (HP:0009053)1.73323641
118Athetosis (HP:0002305)1.72978001
119Congestive heart failure (HP:0001635)1.72707164
120Abnormal mitochondria in muscle tissue (HP:0008316)1.72470402
121Myopathic facies (HP:0002058)1.72307849
122Conjunctival hamartoma (HP:0100780)1.70431853
123Febrile seizures (HP:0002373)1.68970620
124Cerebral aneurysm (HP:0004944)1.67361056
125Sudden cardiac death (HP:0001645)1.67328181
126Cerebral edema (HP:0002181)1.66454504
127Abnormality of the shoulder girdle musculature (HP:0001435)1.65588976
128Rapidly progressive (HP:0003678)1.65158691
129Lymphangioma (HP:0100764)1.63273579
130Slow progression (HP:0003677)1.62697532
131Limited hip movement (HP:0008800)1.62116752
132Hemiplegia (HP:0002301)1.61342761
133Aneurysm (HP:0002617)1.60333216
134Hyperlipoproteinemia (HP:0010980)1.59740315
135Lower limb muscle weakness (HP:0007340)1.58967297
136Ragged-red muscle fibers (HP:0003200)1.57589674
137Infantile muscular hypotonia (HP:0008947)1.57215719
138Hip contracture (HP:0003273)1.55506714
139Generalized tonic-clonic seizures (HP:0002069)1.54614553
140Hypoplasia of the iris (HP:0007676)1.52916748
141Ankle clonus (HP:0011448)1.52869475

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK24.23312130
2TTN3.66954350
3PHKG23.47271641
4PHKG13.47271641
5TRIB33.11425808
6PDK33.02163253
7PDK43.02163253
8TIE12.81736031
9CAMK1D2.81627158
10OBSCN2.72844531
11BCKDK2.68594966
12MYLK2.66869215
13DMPK2.23528349
14CAMK1G2.23155017
15SIK12.01835193
16PINK11.82136191
17PIK3CA1.75792088
18MUSK1.75220191
19PDK21.74584050
20RIPK11.66622710
21PKN21.61594452
22PRKD31.59500023
23INSRR1.52633998
24CASK1.40390267
25PAK31.35154181
26NEK11.31850350
27PRKAA21.27351012
28LATS21.20576310
29UHMK11.16466798
30CAMK2B1.14843403
31PDGFRA1.14167788
32PRKAA11.13192409
33MAP3K41.05360373
34LATS11.05189254
35STK381.03460807
36PRKD11.02621659
37ROCK11.00626005
38MAPK41.00452387
39SGK30.97658439
40SGK20.96888154
41PAK60.95912283
42TGFBR20.95625845
43CAMK2D0.95511842
44EEF2K0.93574008
45EPHA40.92646582
46MAPK120.89980548
47FER0.85846855
48NTRK10.84862624
49NTRK30.83354985
50MAPKAPK30.83148978
51STK38L0.82457516
52NEK90.80658367
53SGK4940.80569379
54SGK2230.80569379
55CAMK10.80164120
56PTK2B0.79233967
57NTRK20.77891611
58CDC42BPA0.77534919
59MAP3K70.76672047
60PRKCH0.75772270
61MAP2K10.74053288
62NLK0.73864341
63MAPK70.73181242
64TNIK0.69075661
65MAP2K40.67807243
66PIK3CG0.65527671
67GRK70.65164557
68PRKCE0.64281132
69RET0.62493197
70MAPK100.61902662
71ILK0.60537705
72CAMK2A0.60458457
73PDPK10.60321987
74GRK50.60294978
75MAP3K60.59165108
76KSR20.59048518
77PRKACG0.58562496
78MST1R0.57855574
79CAMK40.57618477
80EPHB20.57090287
81FGFR30.54001546
82MARK20.53717286
83MARK10.53454299
84ROCK20.52232120
85EPHB10.51815568
86DDR20.50960924
87LIMK10.50914716
88STK240.50551393
89PAK20.49420648
90FGFR20.47991284
91TYRO30.47440613
92CAMKK20.46214596
93MINK10.45816283
94MAP3K50.45737983
95SGK10.45040354
96PDGFRB0.44580340
97MAP3K130.44534080
98ICK0.44520417
99AKT30.44192407
100ZAK0.43058469
101PRKACB0.42877782
102DYRK1A0.41699678
103PRKACA0.41398385
104CAMK2G0.40063005
105PDK10.39234028
106DAPK20.39092972
107JAK10.38014284
108PKN10.37783069
109TRPM70.37133617
110EPHA30.37023247
111CDK50.36821822
112MTOR0.36468305
113WNK10.35807530
114CAMKK10.34517976
115KDR0.33410429
116AKT20.33352998
117* RPS6KA30.32161712
118PRKG10.29960273
119STK110.29695860
120MAPK130.28945977
121DAPK30.27728679
122WNK40.27444275

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.50552800
2Propanoate metabolism_Homo sapiens_hsa006403.55162932
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.39083449
4Fatty acid degradation_Homo sapiens_hsa000712.83776739
5Fatty acid metabolism_Homo sapiens_hsa012122.78448642
6Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.63288486
7Fatty acid biosynthesis_Homo sapiens_hsa000612.60340367
8Dilated cardiomyopathy_Homo sapiens_hsa054142.48646741
9* PPAR signaling pathway_Homo sapiens_hsa033202.38055182
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.26521203
11Cardiac muscle contraction_Homo sapiens_hsa042602.25134505
12Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.03009228
13Carbon metabolism_Homo sapiens_hsa012001.91727480
14Pyruvate metabolism_Homo sapiens_hsa006201.89476274
15Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.88293863
16Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.72141729
17Butanoate metabolism_Homo sapiens_hsa006501.71937014
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.56718328
19Nitrogen metabolism_Homo sapiens_hsa009101.56649050
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.49434898
21Histidine metabolism_Homo sapiens_hsa003401.45070185
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.37518191
23Adipocytokine signaling pathway_Homo sapiens_hsa049201.37134646
24Glycerolipid metabolism_Homo sapiens_hsa005611.34989392
25Amphetamine addiction_Homo sapiens_hsa050311.32478972
26Arginine biosynthesis_Homo sapiens_hsa002201.18534860
27AMPK signaling pathway_Homo sapiens_hsa041521.18363255
28beta-Alanine metabolism_Homo sapiens_hsa004101.18140796
29Glucagon signaling pathway_Homo sapiens_hsa049221.15464741
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.09503161
31Insulin resistance_Homo sapiens_hsa049311.07788802
32Arginine and proline metabolism_Homo sapiens_hsa003301.05153549
33Fatty acid elongation_Homo sapiens_hsa000621.04078489
34Renin secretion_Homo sapiens_hsa049241.01684822
35Parkinsons disease_Homo sapiens_hsa050121.01045894
36* Insulin signaling pathway_Homo sapiens_hsa049101.00844348
37Cocaine addiction_Homo sapiens_hsa050301.00061591
38cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96793703
39Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96063985
40Circadian entrainment_Homo sapiens_hsa047130.92929343
41Oxidative phosphorylation_Homo sapiens_hsa001900.92239509
42Tryptophan metabolism_Homo sapiens_hsa003800.89702841
43Peroxisome_Homo sapiens_hsa041460.89544206
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.89137634
45Type II diabetes mellitus_Homo sapiens_hsa049300.87047699
46Calcium signaling pathway_Homo sapiens_hsa040200.84141483
47Alzheimers disease_Homo sapiens_hsa050100.83606491
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82689476
49Viral myocarditis_Homo sapiens_hsa054160.81685515
50cAMP signaling pathway_Homo sapiens_hsa040240.81262927
51Biosynthesis of amino acids_Homo sapiens_hsa012300.80286980
52Pancreatic secretion_Homo sapiens_hsa049720.80148622
53Insulin secretion_Homo sapiens_hsa049110.77227391
54GABAergic synapse_Homo sapiens_hsa047270.75545614
55Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75240063
56Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.75009766
57Oxytocin signaling pathway_Homo sapiens_hsa049210.74210040
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.73276461
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.73141927
60Salivary secretion_Homo sapiens_hsa049700.72628486
61Gastric acid secretion_Homo sapiens_hsa049710.71974222
62Starch and sucrose metabolism_Homo sapiens_hsa005000.70295478
63Lysine degradation_Homo sapiens_hsa003100.69606655
64Aldosterone synthesis and secretion_Homo sapiens_hsa049250.69087946
65Fat digestion and absorption_Homo sapiens_hsa049750.68371702
66Circadian rhythm_Homo sapiens_hsa047100.67926264
67Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.67611549
68Focal adhesion_Homo sapiens_hsa045100.67182714
69Bile secretion_Homo sapiens_hsa049760.67087813
70Morphine addiction_Homo sapiens_hsa050320.66600600
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.65590263
72ECM-receptor interaction_Homo sapiens_hsa045120.64534030
73Phenylalanine metabolism_Homo sapiens_hsa003600.64018757
74Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.63133067
75Olfactory transduction_Homo sapiens_hsa047400.62818621
76Long-term depression_Homo sapiens_hsa047300.61675552
77Serotonergic synapse_Homo sapiens_hsa047260.61408330
78Synaptic vesicle cycle_Homo sapiens_hsa047210.60276183
79Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.57401131
80Prion diseases_Homo sapiens_hsa050200.57346507
81Thyroid hormone synthesis_Homo sapiens_hsa049180.57329019
82Complement and coagulation cascades_Homo sapiens_hsa046100.57250055
83Huntingtons disease_Homo sapiens_hsa050160.55468390
84Tyrosine metabolism_Homo sapiens_hsa003500.55458526
85Glutamatergic synapse_Homo sapiens_hsa047240.54959510
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.54287636
87Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53194840
88Central carbon metabolism in cancer_Homo sapiens_hsa052300.52967275
89Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.52129483
90Nicotine addiction_Homo sapiens_hsa050330.51165887
91Cholinergic synapse_Homo sapiens_hsa047250.50102127
92Ovarian steroidogenesis_Homo sapiens_hsa049130.48979866
93HIF-1 signaling pathway_Homo sapiens_hsa040660.46530199
94Vitamin B6 metabolism_Homo sapiens_hsa007500.46296330
95Fructose and mannose metabolism_Homo sapiens_hsa000510.45002636
96Axon guidance_Homo sapiens_hsa043600.44405556
97Rap1 signaling pathway_Homo sapiens_hsa040150.43892493
98Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.43773666
99Taste transduction_Homo sapiens_hsa047420.43382711
100Gap junction_Homo sapiens_hsa045400.41018873
101GnRH signaling pathway_Homo sapiens_hsa049120.40869554
102Glioma_Homo sapiens_hsa052140.40233157
103* Adherens junction_Homo sapiens_hsa045200.39523259
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.37750873
105Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.36864848
106Long-term potentiation_Homo sapiens_hsa047200.35655986
107Dorso-ventral axis formation_Homo sapiens_hsa043200.35529872
108Tight junction_Homo sapiens_hsa045300.34657234
109Ras signaling pathway_Homo sapiens_hsa040140.33824272
110Dopaminergic synapse_Homo sapiens_hsa047280.33336512
111ABC transporters_Homo sapiens_hsa020100.31672879
112mTOR signaling pathway_Homo sapiens_hsa041500.31670461
113Estrogen signaling pathway_Homo sapiens_hsa049150.30361440
114Melanogenesis_Homo sapiens_hsa049160.30254874
115Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.29174873
116Phospholipase D signaling pathway_Homo sapiens_hsa040720.27790809
117Primary bile acid biosynthesis_Homo sapiens_hsa001200.27586563
118Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.27536940
119Protein digestion and absorption_Homo sapiens_hsa049740.26800220
120Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.23897883

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