SYPL2

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





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

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcoplasmic reticulum calcium ion transport (GO:0070296)9.85660541
2skeletal muscle adaptation (GO:0043501)8.94095670
3skeletal muscle fiber development (GO:0048741)8.02758971
4plasma membrane repair (GO:0001778)7.70846960
5actin filament-based movement (GO:0030048)7.69919145
6myotube cell development (GO:0014904)6.88851496
7pyrimidine ribonucleoside catabolic process (GO:0046133)6.65171157
8striated muscle contraction (GO:0006941)6.50674392
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.35364239
10glycogen catabolic process (GO:0005980)6.22861613
11creatine metabolic process (GO:0006600)6.18902166
12cytidine deamination (GO:0009972)6.17146197
13cytidine metabolic process (GO:0046087)6.17146197
14cytidine catabolic process (GO:0006216)6.17146197
15sarcomere organization (GO:0045214)6.02441151
16glucan catabolic process (GO:0009251)5.85903642
17cardiac myofibril assembly (GO:0055003)5.83953315
18carnitine shuttle (GO:0006853)5.79945118
19response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.79115547
20skeletal muscle tissue regeneration (GO:0043403)5.69061022
21purine nucleotide salvage (GO:0032261)5.61512501
22cellular polysaccharide catabolic process (GO:0044247)5.47657086
23myofibril assembly (GO:0030239)5.45241740
24muscle contraction (GO:0006936)5.40550151
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.33402881
26response to muscle activity (GO:0014850)5.28010908
27regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.26187453
28polysaccharide catabolic process (GO:0000272)5.21882733
29regulation of cell communication by electrical coupling (GO:0010649)5.07559228
30response to inactivity (GO:0014854)4.99757122
31striated muscle atrophy (GO:0014891)4.96747898
32glycogen biosynthetic process (GO:0005978)4.85248704
33glucan biosynthetic process (GO:0009250)4.85248704
34fatty acid transmembrane transport (GO:1902001)4.84275744
35regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.83344464
36muscle fiber development (GO:0048747)4.78536954
37muscle system process (GO:0003012)4.77379907
38striated muscle adaptation (GO:0014888)4.75258069
39IMP metabolic process (GO:0046040)4.66301953
40negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.65967518
41carnitine transport (GO:0015879)4.65522652
42amino-acid betaine transport (GO:0015838)4.65522652
43carnitine transmembrane transport (GO:1902603)4.61775281
44regulation of actin filament-based movement (GO:1903115)4.59280646
45positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.50290352
46muscle cell fate commitment (GO:0042693)4.49786399
47regulation of acyl-CoA biosynthetic process (GO:0050812)4.39323461
48cardiac muscle hypertrophy (GO:0003300)4.36119395
49muscle atrophy (GO:0014889)4.30919655
50regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.29880551
51actomyosin structure organization (GO:0031032)4.27822264
52glycogen metabolic process (GO:0005977)4.20187744
53striated muscle hypertrophy (GO:0014897)4.15822759
54neuronal action potential propagation (GO:0019227)4.13257506
55glucan metabolic process (GO:0044042)4.12587536
56cellular glucan metabolic process (GO:0006073)4.12587536
57cellular carbohydrate catabolic process (GO:0044275)3.98930618
58regulation of coenzyme metabolic process (GO:0051196)3.94981594
59regulation of cofactor metabolic process (GO:0051193)3.94981594
60tricarboxylic acid cycle (GO:0006099)3.94958467
61muscle organ morphogenesis (GO:0048644)3.93236300
62muscle tissue morphogenesis (GO:0060415)3.92259810
63quaternary ammonium group transport (GO:0015697)3.88065358
64response to activity (GO:0014823)3.86079645
65muscle adaptation (GO:0043500)3.83520451
66fructose metabolic process (GO:0006000)3.79919105
67regulation of myoblast differentiation (GO:0045661)3.79887752
68muscle organ development (GO:0007517)3.77428748
69muscle cell cellular homeostasis (GO:0046716)3.76991937
70negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.75514278
71muscle structure development (GO:0061061)3.72876476
72regulation of skeletal muscle cell differentiation (GO:2001014)3.72080418
73regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.71729984
74cardiac muscle contraction (GO:0060048)3.71266478
75muscle hypertrophy (GO:0014896)3.70484914
76cardiac muscle cell development (GO:0055013)3.68893835
77negative regulation of potassium ion transmembrane transport (GO:1901380)3.68085051
78regulation of relaxation of muscle (GO:1901077)3.66172959
79gluconeogenesis (GO:0006094)3.65965839
80negative regulation of muscle hypertrophy (GO:0014741)3.65531478
81neuromuscular synaptic transmission (GO:0007274)3.64140853
82cardiac muscle tissue morphogenesis (GO:0055008)3.62076176
83regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.59199601
84IMP biosynthetic process (GO:0006188)3.59096454
85regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.56526016
86regulation of the force of heart contraction (GO:0002026)3.53338722
87adult heart development (GO:0007512)3.52351753
88striated muscle cell development (GO:0055002)3.51609081
89positive regulation of myoblast differentiation (GO:0045663)3.51523152
90negative regulation of calcium ion transmembrane transport (GO:1903170)3.46669133
91negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.46669133
92negative regulation of protein localization to cell surface (GO:2000009)3.45220796
93negative regulation of skeletal muscle tissue development (GO:0048642)3.44064514
94regulation of myotube differentiation (GO:0010830)3.40767365
95cardiac cell development (GO:0055006)3.40750354
96skeletal muscle tissue development (GO:0007519)3.40189458
97striated muscle tissue development (GO:0014706)3.37455270
98myoblast fusion (GO:0007520)3.33481949
99cellular response to dexamethasone stimulus (GO:0071549)3.33041321
100positive regulation of myotube differentiation (GO:0010831)3.31164072
101syncytium formation by plasma membrane fusion (GO:0000768)3.30694288
102cardiac muscle adaptation (GO:0014887)3.29412354
103cardiac muscle hypertrophy in response to stress (GO:0014898)3.29412354
104muscle hypertrophy in response to stress (GO:0003299)3.29412354
1052-oxoglutarate metabolic process (GO:0006103)3.29276016
106negative regulation of cAMP-mediated signaling (GO:0043951)3.26901334
107hexose biosynthetic process (GO:0019319)3.26124771
108regulation of calcium ion transmembrane transporter activity (GO:1901019)3.25294699
109regulation of calcium ion transmembrane transport (GO:1903169)3.25294699
110regulation of muscle system process (GO:0090257)3.25056683
111regulation of skeletal muscle fiber development (GO:0048742)3.24337357
112myotube differentiation (GO:0014902)3.22963541
113neuromuscular junction development (GO:0007528)3.21804486
114regulation of sulfur metabolic process (GO:0042762)3.20830047
115negative regulation of muscle contraction (GO:0045932)3.17394018
116relaxation of muscle (GO:0090075)3.15793138
117response to mercury ion (GO:0046689)3.14873826
118NADH metabolic process (GO:0006734)3.09691754
119regulation of striated muscle contraction (GO:0006942)3.09191545
120response to dexamethasone (GO:0071548)3.09141167
121succinate metabolic process (GO:0006105)3.07126802
122lysine catabolic process (GO:0006554)3.06592122
123lysine metabolic process (GO:0006553)3.06592122
124valine metabolic process (GO:0006573)3.06242988
125positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.02916803
126negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.98555169
127syncytium formation (GO:0006949)2.98031574
128muscle cell development (GO:0055001)2.97715434
129muscle filament sliding (GO:0030049)12.5121771
130actin-myosin filament sliding (GO:0033275)12.5121771
131regulation of skeletal muscle contraction (GO:0014819)11.9717658
132skeletal muscle contraction (GO:0003009)11.0428660
133actin-mediated cell contraction (GO:0070252)10.2604761

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.00477435
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.17748276
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.36708127
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.03786510
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.93839551
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.79085960
7PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.77318310
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.71527852
9TRIM28_21343339_ChIP-Seq_HEK293_Human2.45254897
10CDX2_19796622_ChIP-Seq_MESCs_Mouse2.40517018
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.29747515
12TBX20_22080862_ChIP-Seq_HEART_Mouse2.29747515
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.10560658
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.05466430
15EZH2_22144423_ChIP-Seq_EOC_Human1.99788679
16AR_21572438_ChIP-Seq_LNCaP_Human1.87512197
17BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.86744361
18CTCF_27219007_Chip-Seq_Bcells_Human1.70854894
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.70614849
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.69222374
21NFIB_24661679_ChIP-Seq_LUNG_Mouse1.68046669
22ZNF274_21170338_ChIP-Seq_K562_Hela1.67658620
23BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.65312208
24RBPJ_22232070_ChIP-Seq_NCS_Mouse1.64353695
25CTCF_21964334_ChIP-Seq_BJAB-B_Human1.61343350
26ESR2_21235772_ChIP-Seq_MCF-7_Human1.55444943
27PPARA_22158963_ChIP-Seq_LIVER_Mouse1.53292212
28MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.52458458
29NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.51468140
30ZNF263_19887448_ChIP-Seq_K562_Human1.51226919
31PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.46046740
32DROSHA_22980978_ChIP-Seq_HELA_Human1.45924921
33ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.41643255
34EP300_21415370_ChIP-Seq_HL-1_Mouse1.40733745
35RXR_22158963_ChIP-Seq_LIVER_Mouse1.40332633
36ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.40236072
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.38638119
38CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.34712859
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33992581
40* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.33024878
41SA1_27219007_Chip-Seq_Bcells_Human1.30913946
42STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.29582355
43DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26230796
44EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.24941502
45EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.24230223
46TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.24066473
47IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.20859961
48CBP_20019798_ChIP-Seq_JUKART_Human1.20859961
49P63_26484246_Chip-Seq_KERATINOCYTES_Human1.19995686
50* EZH2_27294783_Chip-Seq_ESCs_Mouse1.18451633
51LXR_22158963_ChIP-Seq_LIVER_Mouse1.18446232
52* FOXH1_21741376_ChIP-Seq_ESCs_Human1.15785451
53OCT4_20526341_ChIP-Seq_ESCs_Human1.13869019
54TDRD3_21172665_ChIP-Seq_MCF-7_Human1.10729023
55CTCF_21964334_Chip-Seq_Bcells_Human1.09999330
56LXR_22292898_ChIP-Seq_THP-1_Human1.09942738
57SMC3_22415368_ChIP-Seq_MEFs_Mouse1.09264925
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.08073618
59WT1_19549856_ChIP-ChIP_CCG9911_Human1.07456217
60YY1_22570637_ChIP-Seq_MALME-3M_Human1.05792607
61CBX2_27304074_Chip-Seq_ESCs_Mouse1.05727534
62VDR_22108803_ChIP-Seq_LS180_Human1.05404350
63SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.04787346
64* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.03237712
65CLOCK_20551151_ChIP-Seq_293T_Human1.01763258
66MYC_27129775_Chip-Seq_CORNEA_Mouse1.00639790
67RAC3_21632823_ChIP-Seq_H3396_Human1.00214388
68TP53_20018659_ChIP-ChIP_R1E_Mouse0.99515464
69RACK7_27058665_Chip-Seq_MCF-7_Human0.98496343
70SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98168666
71STAT1_20625510_ChIP-Seq_HELA_Human0.97158754
72CTCF_27219007_Chip-Seq_ERYTHROID_Human0.96627976
73* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96510289
74RAD21_21589869_ChIP-Seq_MESCs_Mouse0.95711862
75SUZ12_27294783_Chip-Seq_ESCs_Mouse0.95125293
76NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95077559
77P68_20966046_ChIP-Seq_HELA_Human0.94516074
78TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.93001734
79CREB1_26743006_Chip-Seq_LNCaP_Human0.92889671
80TP53_23651856_ChIP-Seq_MEFs_Mouse0.92178703
81TP63_22573176_ChIP-Seq_HFKS_Human0.90809374
82* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.90512396
83CEBPB_22108803_ChIP-Seq_LS180_Human0.90483121
84EZH2_27304074_Chip-Seq_ESCs_Mouse0.90445655
85KLF4_19829295_ChIP-Seq_ESCs_Human0.88889638
86CRX_20693478_ChIP-Seq_RETINA_Mouse0.88816972
87SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.88705783
88CSB_26484114_Chip-Seq_FIBROBLAST_Human0.88458491
89ERG_21242973_ChIP-ChIP_JURKAT_Human0.88427537
90P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.87348330
91* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87032748
92* EZH2_18974828_ChIP-Seq_MESCs_Mouse0.86563561
93* RNF2_18974828_ChIP-Seq_MESCs_Mouse0.86563561
94RARB_27405468_Chip-Seq_BRAIN_Mouse0.86205267
95CTCF_26484167_Chip-Seq_Bcells_Mouse0.85579395
96E2F1_20622854_ChIP-Seq_HELA_Human0.85425028
97KDM2B_26808549_Chip-Seq_DND41_Human0.84068407
98KLF5_20875108_ChIP-Seq_MESCs_Mouse0.83928581
99* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.83757517
100GATA4_21415370_ChIP-Seq_HL-1_Mouse0.83545305
101PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83372311
102CBP_21632823_ChIP-Seq_H3396_Human0.83286438
103SUZ12_27294783_Chip-Seq_NPCs_Mouse0.83177960
104PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.82958176
105EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.82677915
106* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.82368963
107HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.82289219
108TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.81471205
109OCT1_27270436_Chip-Seq_PROSTATE_Human0.81265259
110* GATA6_21074721_ChIP-Seq_CACO-2_Human0.81110142
111AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80998242
112FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.80995042
113* NANOG_20526341_ChIP-Seq_ESCs_Human0.80913868
114LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.80714907
115NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.80409735
116* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.79861809
117SMAD4_21741376_ChIP-Seq_EPCs_Human0.79337215
118SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.79099952
119OCT4_21477851_ChIP-Seq_ESCs_Mouse0.78444203
120SPI1_20517297_ChIP-Seq_HL60_Human0.78382458
121PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.78036455
122GATA1_19941827_ChIP-Seq_MEL_Mouse0.78013776
123CJUN_26792858_Chip-Seq_BT549_Human0.77922654
124EZH2_27294783_Chip-Seq_NPCs_Mouse0.77655780
125SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.77533321
126RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.77504213
127RXR_22108803_ChIP-Seq_LS180_Human0.77451385
128NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.76816834
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.76536549
130WDR5_24793694_ChIP-Seq_LNCAP_Human0.76474003
131NRF2_20460467_ChIP-Seq_MEFs_Mouse0.76432503
132SA1_22415368_ChIP-Seq_MEFs_Mouse0.76366014

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.85726444
2MP0000749_muscle_degeneration6.48594677
3MP0003646_muscle_fatigue6.38207363
4MP0000751_myopathy5.71682746
5MP0000747_muscle_weakness4.65446661
6MP0002106_abnormal_muscle_physiology4.13824522
7MP0004036_abnormal_muscle_relaxation3.87864917
8* MP0000759_abnormal_skeletal_muscle3.63626978
9MP0002269_muscular_atrophy3.55412839
10MP0005369_muscle_phenotype3.45923007
11MP0002837_dystrophic_cardiac_calcinosis3.32366342
12* MP0004087_abnormal_muscle_fiber3.18933630
13MP0000750_abnormal_muscle_regeneration3.14702884
14MP0004130_abnormal_muscle_cell3.12341196
15* MP0005620_abnormal_muscle_contractility2.99375617
16MP0004233_abnormal_muscle_weight2.75810983
17MP0000733_abnormal_muscle_development2.30309550
18MP0002332_abnormal_exercise_endurance2.14340528
19MP0002108_abnormal_muscle_morphology2.02962176
20MP0006036_abnormal_mitochondrial_physio2.01036670
21MP0005330_cardiomyopathy1.89002148
22MP0004185_abnormal_adipocyte_glucose1.61359528
23MP0004043_abnormal_pH_regulation1.58287703
24MP0005666_abnormal_adipose_tissue1.57575563
25MP0002971_abnormal_brown_adipose1.51133073
26MP0008438_abnormal_cutaneous_collagen1.47815516
27MP0004084_abnormal_cardiac_muscle1.46487819
28MP0004270_analgesia1.42525133
29MP0004510_myositis1.42407258
30MP0004215_abnormal_myocardial_fiber1.37642655
31MP0004484_altered_response_of1.34750942
32MP0002972_abnormal_cardiac_muscle1.24937598
33MP0003806_abnormal_nucleotide_metabolis1.24660277
34MP0005375_adipose_tissue_phenotype1.14475866
35MP0003221_abnormal_cardiomyocyte_apopto1.08858614
36MP0010630_abnormal_cardiac_muscle1.06932183
37MP0001661_extended_life_span1.05697342
38MP0006035_abnormal_mitochondrial_morpho1.04168616
39MP0000013_abnormal_adipose_tissue1.03076698
40MP0005266_abnormal_metabolism1.01427490
41MP0005503_abnormal_tendon_morphology0.98729848
42MP0003950_abnormal_plasma_membrane0.96627412
43MP0005670_abnormal_white_adipose0.95979272
44MP0009780_abnormal_chondrocyte_physiolo0.94964858
45MP0008961_abnormal_basal_metabolism0.86220827
46MP0004134_abnormal_chest_morphology0.84037947
47MP0005385_cardiovascular_system_phenoty0.79162725
48MP0001544_abnormal_cardiovascular_syste0.79162725
49MP0003705_abnormal_hypodermis_morpholog0.78168027
50MP0004147_increased_porphyrin_level0.77396579
51MP0003279_aneurysm0.76198168
52MP0003137_abnormal_impulse_conducting0.75526829
53MP0003828_pulmonary_edema0.74327342
54MP0002139_abnormal_hepatobiliary_system0.72981242
55MP0000372_irregular_coat_pigmentation0.70007690
56MP0009250_abnormal_appendicular_skeleto0.69600626
57MP0003195_calcinosis0.68841553
58MP0001765_abnormal_ion_homeostasis0.67611833
59MP0002234_abnormal_pharynx_morphology0.66772298
60MP0001299_abnormal_eye_distance/0.66618344
61MP0000762_abnormal_tongue_morphology0.66524598
62MP0005360_urolithiasis0.66096039
63MP0002078_abnormal_glucose_homeostasis0.65506388
64MP0002822_catalepsy0.64558265
65MP0010030_abnormal_orbit_morphology0.63648600
66MP0005332_abnormal_amino_acid0.63267333
67MP0005584_abnormal_enzyme/coenzyme_acti0.62677827
68MP0001958_emphysema0.61490258
69MP0000003_abnormal_adipose_tissue0.60782034
70MP0003879_abnormal_hair_cell0.59605716
71MP0003656_abnormal_erythrocyte_physiolo0.59298576
72MP0002896_abnormal_bone_mineralization0.58044326
73MP0005334_abnormal_fat_pad0.57178485
74MP0002089_abnormal_postnatal_growth/wei0.54595949
75MP0004272_abnormal_basement_membrane0.54373653
76MP0003959_abnormal_lean_body0.53597173
77MP0005275_abnormal_skin_tensile0.53172327
78MP0005083_abnormal_biliary_tract0.51705025
79MP0002128_abnormal_blood_circulation0.50110833
80MP0005319_abnormal_enzyme/_coenzyme0.49632279
81MP0005636_abnormal_mineral_homeostasis0.49138530
82MP0005452_abnormal_adipose_tissue0.49033826
83MP0008775_abnormal_heart_ventricle0.48599878
84MP0002127_abnormal_cardiovascular_syste0.48239588
85MP0009384_cardiac_valve_regurgitation0.46315394
86MP0002249_abnormal_larynx_morphology0.45357601
87MP0008569_lethality_at_weaning0.45141765
88MP0005451_abnormal_body_composition0.44240238
89MP0000266_abnormal_heart_morphology0.44175969
90MP0000343_altered_response_to0.43316123
91MP0001542_abnormal_bone_strength0.43080932
92MP0000230_abnormal_systemic_arterial0.42491592
93MP0002138_abnormal_hepatobiliary_system0.41936755
94MP0005535_abnormal_body_temperature0.41170826
95MP0003045_fibrosis0.40602924
96MP0009672_abnormal_birth_weight0.40153455
97MP0001346_abnormal_lacrimal_gland0.38122750
98MP0004142_abnormal_muscle_tone0.36041496
99MP0003941_abnormal_skin_development0.35948843
100MP0005165_increased_susceptibility_to0.35102625
101MP0002114_abnormal_axial_skeleton0.34878178
102MP0000534_abnormal_ureter_morphology0.34702753
103MP0009115_abnormal_fat_cell0.32506925
104MP0009643_abnormal_urine_homeostasis0.31566043
105MP0002118_abnormal_lipid_homeostasis0.31107931
106MP0003948_abnormal_gas_homeostasis0.30638020
107MP0010368_abnormal_lymphatic_system0.30578983
108MP0005187_abnormal_penis_morphology0.30389395
109MP0006138_congestive_heart_failure0.30193917
110MP0003252_abnormal_bile_duct0.29298733
111MP0000767_abnormal_smooth_muscle0.28879859
112MP0000383_abnormal_hair_follicle0.26823927
113MP0005595_abnormal_vascular_smooth0.26522349
114MP0000579_abnormal_nail_morphology0.25869526
115MP0005166_decreased_susceptibility_to0.24917164
116MP0002796_impaired_skin_barrier0.24706587
117MP0002066_abnormal_motor_capabilities/c0.24678527
118MP0005376_homeostasis/metabolism_phenot0.23245173
119MP0005623_abnormal_meninges_morphology0.22876645
120MP0004085_abnormal_heartbeat0.22861785
121MP0003385_abnormal_body_wall0.22815248
122MP0001849_ear_inflammation0.21148631
123MP0001943_abnormal_respiration0.21094817
124MP0004019_abnormal_vitamin_homeostasis0.19435239
125MP0004858_abnormal_nervous_system0.17890588
126MP0005377_hearing/vestibular/ear_phenot0.16950633

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.78108597
2Nemaline bodies (HP:0003798)9.38024102
3Exercise-induced myalgia (HP:0003738)8.48700055
4Exercise-induced muscle cramps (HP:0003710)7.72883823
5Type 1 muscle fiber predominance (HP:0003803)7.67802174
6Distal arthrogryposis (HP:0005684)7.40657308
7Muscle hypertrophy of the lower extremities (HP:0008968)6.90306049
8Myopathic facies (HP:0002058)6.78738359
9Calf muscle hypertrophy (HP:0008981)6.16416305
10Round ear (HP:0100830)6.07742981
11Ulnar deviation of the wrist (HP:0003049)6.05481711
12Difficulty running (HP:0009046)5.23996314
13Calcaneovalgus deformity (HP:0001848)5.18603719
14Muscle fiber splitting (HP:0003555)5.10910740
15Myoglobinuria (HP:0002913)5.06977038
16Absent phalangeal crease (HP:0006109)4.79916740
17Deformed tarsal bones (HP:0008119)4.71217214
18Muscle stiffness (HP:0003552)4.63221113
19Hyporeflexia of lower limbs (HP:0002600)4.55098615
20EMG: myopathic abnormalities (HP:0003458)4.48297245
21Rhabdomyolysis (HP:0003201)4.20663502
22Increased connective tissue (HP:0009025)4.16686897
23Abnormality of the calf musculature (HP:0001430)4.13410732
24Abnormal finger flexion creases (HP:0006143)4.01168699
25Myotonia (HP:0002486)3.94299360
26Abnormality of skeletal muscle fiber size (HP:0012084)3.85094359
27Neck muscle weakness (HP:0000467)3.53536584
28Malignant hyperthermia (HP:0002047)3.50708508
29Abnormality of the left ventricular outflow tract (HP:0011103)3.43661091
30Subaortic stenosis (HP:0001682)3.43661091
31Rimmed vacuoles (HP:0003805)3.39832265
32Increased variability in muscle fiber diameter (HP:0003557)3.34594722
33Frequent falls (HP:0002359)3.32931572
34Difficulty climbing stairs (HP:0003551)3.26768651
35Shoulder girdle muscle weakness (HP:0003547)3.17835853
36Pelvic girdle muscle weakness (HP:0003749)3.16522892
37Abnormality of the calcaneus (HP:0008364)3.10446132
38Hyperkalemia (HP:0002153)3.08049611
39Abnormality of the hip-girdle musculature (HP:0001445)3.06051120
40Abnormality of the musculature of the pelvis (HP:0001469)3.06051120
41Areflexia of lower limbs (HP:0002522)2.95825221
42Asymmetric septal hypertrophy (HP:0001670)2.86894463
43Bundle branch block (HP:0011710)2.82318594
44Slender build (HP:0001533)2.73343068
45Paralysis (HP:0003470)2.56774215
46Generalized muscle weakness (HP:0003324)2.55271653
47Distal lower limb muscle weakness (HP:0009053)2.54052195
48Fatigable weakness (HP:0003473)2.47201670
49Abnormality of the neuromuscular junction (HP:0003398)2.47201670
50EMG: neuropathic changes (HP:0003445)2.42860962
51Sudden death (HP:0001699)2.42113947
52Muscular dystrophy (HP:0003560)2.34311996
53Gout (HP:0001997)2.31739182
54Proximal amyotrophy (HP:0007126)2.30702654
55Bulbar palsy (HP:0001283)2.30544286
56Centrally nucleated skeletal muscle fibers (HP:0003687)2.28286076
57Nonprogressive disorder (HP:0003680)2.26442891
58Mildly elevated creatine phosphokinase (HP:0008180)2.26350773
59Lipoatrophy (HP:0100578)2.24139884
60Popliteal pterygium (HP:0009756)2.19907751
61Spinal rigidity (HP:0003306)2.13822947
62Limb-girdle muscle weakness (HP:0003325)2.12794996
63Metatarsus adductus (HP:0001840)2.12098745
64Hyperuricemia (HP:0002149)2.11489394
65Increased purine levels (HP:0004368)2.11489394
66Weak cry (HP:0001612)2.10327156
67Facial diplegia (HP:0001349)2.07540122
68Gowers sign (HP:0003391)2.06155657
69Progressive muscle weakness (HP:0003323)2.06013403
70Hypoplastic ischia (HP:0003175)2.05310098
71Fetal akinesia sequence (HP:0001989)2.04729114
72Abnormality of the shoulder girdle musculature (HP:0001435)2.03175123
73Limb-girdle muscle atrophy (HP:0003797)2.02017343
74Scapular winging (HP:0003691)2.01970758
75Muscle fiber inclusion bodies (HP:0100299)10.3129061
76Ulnar deviation of finger (HP:0009465)1.97231259
77Breech presentation (HP:0001623)1.94435191
78Hip contracture (HP:0003273)1.92971665
79Abnormality of potassium homeostasis (HP:0011042)1.91446740
80Waddling gait (HP:0002515)1.90428161
81Abnormality of the foot musculature (HP:0001436)1.86610197
82Heart block (HP:0012722)1.86372757
83Distal lower limb amyotrophy (HP:0008944)1.84585416
84Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.83471181
85Abnormal atrioventricular conduction (HP:0005150)1.79987567
86Abnormality of the ischium (HP:0003174)1.78763940
87Hypokalemia (HP:0002900)1.76127703
88Achilles tendon contracture (HP:0001771)1.75215139
89Long clavicles (HP:0000890)1.75056404
90Foot dorsiflexor weakness (HP:0009027)1.72918330
91Aplasia of the musculature (HP:0100854)1.65638734
92Abnormality of the Achilles tendon (HP:0005109)1.65178015
93Type 2 muscle fiber atrophy (HP:0003554)1.60823272
94Ragged-red muscle fibers (HP:0003200)1.60288794
95Abnormality of placental membranes (HP:0011409)1.56244618
96Amniotic constriction ring (HP:0009775)1.56244618
97Ventricular arrhythmia (HP:0004308)1.55971072
98Ventricular tachycardia (HP:0004756)1.54603014
99Stridor (HP:0010307)1.53773579
100Increased density of long bones (HP:0006392)1.53422761
101Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.53039855
102Tarsal synostosis (HP:0008368)1.51780995
103Muscle fiber atrophy (HP:0100295)1.51751874
104Respiratory insufficiency due to muscle weakness (HP:0002747)1.49105356
105Short palpebral fissure (HP:0012745)1.45786917
106Cholelithiasis (HP:0001081)1.44608964
107Congenital hip dislocation (HP:0001374)1.42493708
108Abnormality of purine metabolism (HP:0004352)1.41905049
109Adducted thumb (HP:0001181)1.41804423
110Dilated cardiomyopathy (HP:0001644)1.38953495
111Ketoacidosis (HP:0001993)1.37908984
112Synostosis involving bones of the feet (HP:0009140)1.36822990
113Synostosis involving bones of the lower limbs (HP:0009138)1.36822990
114Lower limb amyotrophy (HP:0007210)1.36243040
115Exercise intolerance (HP:0003546)1.33748974
116Limited hip movement (HP:0008800)1.31041349

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.25493925
2TTN6.08645890
3PHKG25.27227679
4PHKG15.27227679
5NME14.05005653
6PIK3CG3.99546262
7MAP2K32.74320761
8NEK12.38412467
9MAP3K72.21325382
10PINK12.19361383
11BCKDK2.05712259
12PDK32.05416452
13PDK42.05416452
14DMPK1.65526978
15MAPK121.64353484
16TRIB31.57696801
17MAP2K41.57126232
18PIK3CA1.45176040
19MAP2K61.45061309
20PDK21.34467234
21MUSK1.24642092
22MARK10.98508616
23PRKAA20.86131223
24PRKAA10.84877589
25MAP3K30.82376774
26TAOK20.78996227
27MYLK0.76477448
28WNK40.71328672
29MAP3K130.71137840
30OXSR10.69951370
31MAPK110.69726665
32NEK90.69177836
33DDR20.64568273
34AKT20.59935397
35MAPKAPK30.59781488
36ERBB30.58463741
37CAMK40.58225232
38WNK30.55377051
39TRPM70.54384393
40CAMK2G0.53904309
41EPHB10.53587978
42RIPK10.52642647
43STK240.52474042
44SIK10.52033345
45MAP3K110.47404724
46CAMK10.45441759
47TAOK10.45290866
48PKN20.44869082
49SGK10.43651858
50ZAK0.41407177
51CAMK2B0.41103034
52CAMK2A0.40820992
53PTK60.37468987
54PRPF4B0.37174301
55PDGFRA0.34062782
56ARAF0.33822795
57LIMK10.29912218
58PRKACB0.28002910
59TBK10.26598091
60TIE10.26443829
61RPS6KL10.26355847
62RPS6KC10.26355847
63PRKG10.25842136
64ILK0.25578571
65AKT30.25563484
66CDC42BPA0.25272784
67RPS6KA30.24794966
68STK38L0.24263380
69MARK20.24240843
70LATS10.24035254
71PKN10.23446906
72MAP3K60.22902803
73SGK30.22299038
74RPS6KA20.21698441
75PRKACA0.20886492
76PAK60.20730647
77MAP3K50.20467374
78RPS6KB10.19831521
79MAPK40.19807766
80PDPK10.19466901
81RPS6KA60.19311595
82ROCK10.18695122
83INSRR0.17980080
84KSR20.17829820
85WNK10.17392936
86MAP3K10.17274837
87RPS6KB20.17240676
88TESK10.16917216
89MAP2K10.16092521
90CAMK1G0.15361919
91DYRK1B0.15270387
92MAPK70.15079555
93STK390.14325097
94STK380.14179415
95PDK10.13922112
96CDK190.13779504
97ICK0.12713349
98EEF2K0.11584764
99RAF10.10269090
100PAK20.10006351
101ABL20.09768153
102BRAF0.09451392
103PRKD10.09414790
104SGK20.09393467
105LRRK20.08530920
106MAP3K100.08334936
107SGK2230.08318721
108SGK4940.08318721
109PRKD20.06733835
110PRKACG0.06568288
111STK110.06477243
112ZAP700.06020315
113GSK3A0.05993863
114MAP3K40.05817022
115PAK10.05511967
116MAPK130.05406777
117MST1R0.05358691
118LATS20.05330316
119KSR10.04210021
120RPS6KA10.03190131
121MAPK100.02761745
122CCNB10.02588882
123CAMK2D0.02458872
124TGFBR20.02386589
125MOS0.02368596
126BMX0.01746461
127MAPK80.01322845
128PTK2B0.01258468
129MTOR0.01190249
130FGFR10.00961393
131JAK2-0.0037876

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.39917541
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.67166669
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.62353795
4Cardiac muscle contraction_Homo sapiens_hsa042603.28943266
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.20646922
6Starch and sucrose metabolism_Homo sapiens_hsa005003.02900336
7Propanoate metabolism_Homo sapiens_hsa006402.99332707
8Dilated cardiomyopathy_Homo sapiens_hsa054142.91857882
9Carbon metabolism_Homo sapiens_hsa012002.32475868
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.21653277
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.14117156
12Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.09680295
13Glucagon signaling pathway_Homo sapiens_hsa049222.08726672
14Fatty acid degradation_Homo sapiens_hsa000711.96437461
15Circadian rhythm_Homo sapiens_hsa047101.96070266
16Pyruvate metabolism_Homo sapiens_hsa006201.90237790
17Insulin signaling pathway_Homo sapiens_hsa049101.86799445
18Oxytocin signaling pathway_Homo sapiens_hsa049211.85943885
19Insulin resistance_Homo sapiens_hsa049311.79956673
20Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.67607632
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.66753769
22Arginine and proline metabolism_Homo sapiens_hsa003301.58638908
23Fructose and mannose metabolism_Homo sapiens_hsa000511.56814688
24Biosynthesis of amino acids_Homo sapiens_hsa012301.55187945
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.54039209
26Galactose metabolism_Homo sapiens_hsa000521.53969563
27Parkinsons disease_Homo sapiens_hsa050121.53800509
28Adipocytokine signaling pathway_Homo sapiens_hsa049201.49569223
29Fatty acid metabolism_Homo sapiens_hsa012121.48482056
30AMPK signaling pathway_Homo sapiens_hsa041521.46643721
31Butanoate metabolism_Homo sapiens_hsa006501.45202629
32Calcium signaling pathway_Homo sapiens_hsa040201.44754742
33Oxidative phosphorylation_Homo sapiens_hsa001901.38958330
34Alzheimers disease_Homo sapiens_hsa050101.38607824
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.26555165
36Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.24688978
37Tight junction_Homo sapiens_hsa045301.18595358
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.16723201
39Gastric acid secretion_Homo sapiens_hsa049711.16107955
40Arginine biosynthesis_Homo sapiens_hsa002201.13719652
41Viral myocarditis_Homo sapiens_hsa054161.08690081
42Pentose phosphate pathway_Homo sapiens_hsa000301.03614889
43beta-Alanine metabolism_Homo sapiens_hsa004101.00625524
44Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.99033910
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96942394
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.83185917
47PPAR signaling pathway_Homo sapiens_hsa033200.82907552
48Long-term potentiation_Homo sapiens_hsa047200.81429547
49Peroxisome_Homo sapiens_hsa041460.79820755
50Focal adhesion_Homo sapiens_hsa045100.77089116
51GnRH signaling pathway_Homo sapiens_hsa049120.75065922
52Pentose and glucuronate interconversions_Homo sapiens_hsa000400.73212355
53FoxO signaling pathway_Homo sapiens_hsa040680.71064664
54ECM-receptor interaction_Homo sapiens_hsa045120.69529828
55Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65800568
56Central carbon metabolism in cancer_Homo sapiens_hsa052300.65056345
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.64621401
58Fatty acid biosynthesis_Homo sapiens_hsa000610.63354841
59Tryptophan metabolism_Homo sapiens_hsa003800.62275583
60Bile secretion_Homo sapiens_hsa049760.59570208
61Nitrogen metabolism_Homo sapiens_hsa009100.58839189
62Huntingtons disease_Homo sapiens_hsa050160.57094690
63Insulin secretion_Homo sapiens_hsa049110.51952547
64Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.51538681
65Renin secretion_Homo sapiens_hsa049240.50895635
66HIF-1 signaling pathway_Homo sapiens_hsa040660.45749928
67Sulfur metabolism_Homo sapiens_hsa009200.45089613
68VEGF signaling pathway_Homo sapiens_hsa043700.44291552
69MAPK signaling pathway_Homo sapiens_hsa040100.43970574
70Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43287364
71Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42256429
72Salivary secretion_Homo sapiens_hsa049700.40945774
73Melanogenesis_Homo sapiens_hsa049160.40779156
74mTOR signaling pathway_Homo sapiens_hsa041500.40777257
75Circadian entrainment_Homo sapiens_hsa047130.39979824
76Glioma_Homo sapiens_hsa052140.39260342
77Lysine degradation_Homo sapiens_hsa003100.38263589
78Protein digestion and absorption_Homo sapiens_hsa049740.36446124
79cAMP signaling pathway_Homo sapiens_hsa040240.35854467
80Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.34659648
81Phenylalanine metabolism_Homo sapiens_hsa003600.33934915
82Fatty acid elongation_Homo sapiens_hsa000620.31915299
83Leukocyte transendothelial migration_Homo sapiens_hsa046700.30239866
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30226288
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30074042
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29317331
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.27428923
88Platelet activation_Homo sapiens_hsa046110.26982215
89Tyrosine metabolism_Homo sapiens_hsa003500.25177297
90Amphetamine addiction_Homo sapiens_hsa050310.25002648
91Metabolic pathways_Homo sapiens_hsa011000.24984761
92Pancreatic secretion_Homo sapiens_hsa049720.23765896
93Type II diabetes mellitus_Homo sapiens_hsa049300.23644743
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.23121375
95Glycerolipid metabolism_Homo sapiens_hsa005610.23060536
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22908865
97alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.21817925
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.21636326
99AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20222608
100Cyanoamino acid metabolism_Homo sapiens_hsa004600.19890201
101Long-term depression_Homo sapiens_hsa047300.19660015
102Amoebiasis_Homo sapiens_hsa051460.19023532
103Sulfur relay system_Homo sapiens_hsa041220.17855137
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.17827173
105Thyroid cancer_Homo sapiens_hsa052160.16999126
106Histidine metabolism_Homo sapiens_hsa003400.16677543
107Ovarian steroidogenesis_Homo sapiens_hsa049130.16184715
108Proteoglycans in cancer_Homo sapiens_hsa052050.15954933
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.14433111
110Adherens junction_Homo sapiens_hsa045200.13734037
111Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.13022916
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12558952
113ABC transporters_Homo sapiens_hsa020100.10120218
114Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.08983297
115Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.08134602
116Cholinergic synapse_Homo sapiens_hsa047250.06471261
117Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.05428626

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