SYNPO2L

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
1sarcomere organization (GO:0045214)9.80104633
2actin-myosin filament sliding (GO:0033275)9.60312146
3muscle filament sliding (GO:0030049)9.60312146
4cardiac myofibril assembly (GO:0055003)8.87894674
5myofibril assembly (GO:0030239)8.24516459
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.20202432
7actin-mediated cell contraction (GO:0070252)8.01751304
8negative regulation of potassium ion transmembrane transport (GO:1901380)7.32925671
9regulation of skeletal muscle contraction (GO:0014819)6.95635790
10cardiac muscle contraction (GO:0060048)6.91746849
11plasma membrane repair (GO:0001778)6.75436287
12cardiac muscle cell development (GO:0055013)6.64456720
13positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.50804357
14actomyosin structure organization (GO:0031032)6.44619061
15regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.28161599
16cardiac cell development (GO:0055006)6.24363918
17striated muscle contraction (GO:0006941)6.20921084
18cardiac muscle tissue morphogenesis (GO:0055008)6.18115348
19regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.08989537
20adult heart development (GO:0007512)6.04330137
21actin filament-based movement (GO:0030048)6.03967653
22cardiac muscle hypertrophy (GO:0003300)5.90680230
23regulation of actin filament-based movement (GO:1903115)5.75462821
24ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.72287182
25sarcoplasmic reticulum calcium ion transport (GO:0070296)5.68501780
26regulation of sarcomere organization (GO:0060297)5.66473676
27striated muscle hypertrophy (GO:0014897)5.62935673
28muscle tissue morphogenesis (GO:0060415)5.61548144
29regulation of relaxation of muscle (GO:1901077)5.59652160
30regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.51270434
31ventricular cardiac muscle cell action potential (GO:0086005)5.45157429
32regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.34714614
33heart process (GO:0003015)5.19737883
34heart contraction (GO:0060047)5.19737883
35skeletal muscle contraction (GO:0003009)5.18845553
36tricarboxylic acid cycle (GO:0006099)5.16321691
37regulation of striated muscle contraction (GO:0006942)5.13535582
38bundle of His cell to Purkinje myocyte communication (GO:0086069)5.09375120
39response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.05775907
40creatine metabolic process (GO:0006600)5.01365191
41muscle hypertrophy (GO:0014896)4.99070398
42regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.97415316
43heart trabecula formation (GO:0060347)4.91127829
44regulation of cell communication by electrical coupling (GO:0010649)4.85514991
45regulation of the force of heart contraction (GO:0002026)4.74089660
46negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.66664796
47regulation of membrane repolarization (GO:0060306)4.64939042
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.62833629
49carnitine shuttle (GO:0006853)4.58122276
50regulation of cardioblast differentiation (GO:0051890)4.42830816
51response to inactivity (GO:0014854)4.42726533
52negative regulation of striated muscle cell apoptotic process (GO:0010664)4.38604658
53muscle hypertrophy in response to stress (GO:0003299)4.37220319
54cardiac muscle adaptation (GO:0014887)4.37220319
55cardiac muscle hypertrophy in response to stress (GO:0014898)4.37220319
56regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.35595735
57negative regulation of protein localization to cell surface (GO:2000009)4.33281654
58striated muscle cell development (GO:0055002)4.32950027
59cell communication involved in cardiac conduction (GO:0086065)4.30014275
60muscle contraction (GO:0006936)4.16729064
61skeletal muscle fiber development (GO:0048741)4.16361047
62membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.12775082
63striated muscle adaptation (GO:0014888)4.03694977
64cell communication by electrical coupling (GO:0010644)4.01112003
65myotube cell development (GO:0014904)3.98610688
66regulation of acyl-CoA biosynthetic process (GO:0050812)3.94339158
67cardiac muscle cell action potential (GO:0086001)3.93926215
68regulation of cardiac muscle contraction (GO:0055117)3.93448924
69cardiac muscle cell action potential involved in contraction (GO:0086002)3.92544877
70negative regulation of potassium ion transport (GO:0043267)3.92295163
71cardiac ventricle formation (GO:0003211)3.92116185
72muscle system process (GO:0003012)3.88996683
73regulation of heart rate (GO:0002027)3.87100309
74regulation of ATP catabolic process (GO:1903289)3.85667687
75regulation of ATPase activity (GO:0043462)3.85667687
76fatty acid transmembrane transport (GO:1902001)3.82760786
77NADH metabolic process (GO:0006734)3.80470932
78cardiac chamber formation (GO:0003207)3.76445679
79muscle cell development (GO:0055001)3.75464675
80skeletal muscle adaptation (GO:0043501)3.74174928
81muscle fiber development (GO:0048747)3.71559234
82ventricular cardiac muscle cell development (GO:0055015)3.69616908
83positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.64089516
84skeletal muscle tissue development (GO:0007519)3.63337978
85regulation of coenzyme metabolic process (GO:0051196)3.62280736
86regulation of cofactor metabolic process (GO:0051193)3.62280736
87mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.59636572
88regulation of heart contraction (GO:0008016)3.58717130
89positive regulation of myotube differentiation (GO:0010831)3.58621477
90regulation of muscle contraction (GO:0006937)3.57765184
91negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.53355743
92negative regulation of calcium ion transmembrane transport (GO:1903170)3.53355743
93regulation of striated muscle cell apoptotic process (GO:0010662)3.51445171
94regulation of cardiac muscle cell contraction (GO:0086004)3.50463173
95striated muscle atrophy (GO:0014891)3.43652634
96muscle adaptation (GO:0043500)3.40834940
97response to caffeine (GO:0031000)3.39276855
98positive regulation of cation channel activity (GO:2001259)3.39195875
99ATP synthesis coupled proton transport (GO:0015986)3.37315320
100energy coupled proton transport, down electrochemical gradient (GO:0015985)3.37315320
101atrial septum morphogenesis (GO:0060413)3.36684833
102cardiac conduction (GO:0061337)3.36550116
103muscle organ development (GO:0007517)3.34784538
104muscle structure development (GO:0061061)3.33327521
105relaxation of muscle (GO:0090075)3.32822736
106muscle cell cellular homeostasis (GO:0046716)3.31045292
107relaxation of cardiac muscle (GO:0055119)3.30960333
108regulation of muscle system process (GO:0090257)3.30365101
109muscle cell fate commitment (GO:0042693)3.28413030
110carnitine transmembrane transport (GO:1902603)3.27665109
111regulation of heart rate by cardiac conduction (GO:0086091)3.27219516
112trabecula formation (GO:0060343)3.26880911
113glycogen biosynthetic process (GO:0005978)3.25990488
114glucan biosynthetic process (GO:0009250)3.25990488
115regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.24868530
116regulation of calcium ion transmembrane transport (GO:1903169)3.23846502
117regulation of calcium ion transmembrane transporter activity (GO:1901019)3.23846502
118response to muscle activity (GO:0014850)3.22686618

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EP300_21415370_ChIP-Seq_HL-1_Mouse5.60210314
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.09316926
3TBX20_22328084_ChIP-Seq_HEART_Mouse4.35910744
4TBX20_22080862_ChIP-Seq_HEART_Mouse4.35910744
5MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.96115816
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.87399017
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.86523436
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.81877304
9ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.78253130
10CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.21174578
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.95642248
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.79014788
13EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.78136083
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.71712953
15* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.60281111
16ZNF263_19887448_ChIP-Seq_K562_Human2.39639045
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.37146145
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.32126032
19VDR_22108803_ChIP-Seq_LS180_Human2.30629079
20EZH2_22144423_ChIP-Seq_EOC_Human2.14776922
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.98254212
22NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.98126331
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.94881909
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.77828752
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75782592
26GBX2_23144817_ChIP-Seq_PC3_Human1.71864689
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71558732
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.70029682
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.62414551
30IGF1R_20145208_ChIP-Seq_DFB_Human1.61658472
31ISL1_27105846_Chip-Seq_CPCs_Mouse1.61326237
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.54035249
33PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.47437932
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.43335597
35ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.39857135
36PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.39725188
37PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.38784954
38SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.38769906
39RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.37211235
40EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.37038815
41HIF1A_21447827_ChIP-Seq_MCF-7_Human1.35562112
42CLOCK_20551151_ChIP-Seq_293T_Human1.34699378
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31875712
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30997230
45CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.29618256
46KDM2B_26808549_Chip-Seq_SUP-B15_Human1.26582175
47SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.26486238
48GATA1_22025678_ChIP-Seq_K562_Human1.24803320
49GATA2_21666600_ChIP-Seq_HMVEC_Human1.22462650
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.22436680
51ZFP57_27257070_Chip-Seq_ESCs_Mouse1.20202315
52SMAD4_21799915_ChIP-Seq_A2780_Human1.18239930
53* CTCF_27219007_Chip-Seq_Bcells_Human1.17824306
54NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.17664907
55JARID2_20075857_ChIP-Seq_MESCs_Mouse1.17425795
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.16292399
57PPAR_26484153_Chip-Seq_NCI-H1993_Human1.16023683
58PCGF2_27294783_Chip-Seq_ESCs_Mouse1.15558103
59CJUN_26792858_Chip-Seq_BT549_Human1.14221571
60ESR1_21235772_ChIP-Seq_MCF-7_Human1.14133192
61DROSHA_22980978_ChIP-Seq_HELA_Human1.12556552
62BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.10829769
63WT1_19549856_ChIP-ChIP_CCG9911_Human1.09474614
64EZH2_27294783_Chip-Seq_NPCs_Mouse1.09184242
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.08613336
66NR3C1_21868756_ChIP-Seq_MCF10A_Human1.07361897
67TP63_22573176_ChIP-Seq_HFKS_Human1.07008581
68KDM2B_26808549_Chip-Seq_DND41_Human1.06839713
69TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.06396804
70FLI1_27457419_Chip-Seq_LIVER_Mouse1.06224337
71ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06209420
72SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.05948920
73CRX_20693478_ChIP-Seq_RETINA_Mouse1.04023839
74E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.03531532
75BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03016859
76POU3F2_20337985_ChIP-ChIP_501MEL_Human1.02311920
77JARID2_20064375_ChIP-Seq_MESCs_Mouse1.01815414
78SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01812078
79EZH2_27304074_Chip-Seq_ESCs_Mouse1.00888661
80RNF2_27304074_Chip-Seq_ESCs_Mouse1.00188807
81SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99190158
82SOX9_24532713_ChIP-Seq_HFSC_Mouse0.99110727
83SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.98869255
84NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98657149
85TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97800300
86ELK3_25401928_ChIP-Seq_HUVEC_Human0.97051578
87GATA1_19941826_ChIP-Seq_K562_Human0.96529595
88CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95550501
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.95427592
90SUZ12_27294783_Chip-Seq_ESCs_Mouse0.94602571
91EZH2_27294783_Chip-Seq_ESCs_Mouse0.94388131
92HTT_18923047_ChIP-ChIP_STHdh_Human0.94088803
93AR_21572438_ChIP-Seq_LNCaP_Human0.93402838
94TP53_23651856_ChIP-Seq_MEFs_Mouse0.93364824
95SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.93048493
96MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.92639189
97ZNF274_21170338_ChIP-Seq_K562_Hela0.92609036
98TCF4_23295773_ChIP-Seq_U87_Human0.92419901
99DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.91632181
100RUNX1_27514584_Chip-Seq_MCF-7_Human0.91308143
101LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91156018
102CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.91136180
103NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.90625629
104WT1_25993318_ChIP-Seq_PODOCYTE_Human0.90454705
105RACK7_27058665_Chip-Seq_MCF-7_Human0.90140336
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90092214
107TBL1_22424771_ChIP-Seq_293T_Human0.90017400
108SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.89662178
109ER_23166858_ChIP-Seq_MCF-7_Human0.89408101
110NANOG_19829295_ChIP-Seq_ESCs_Human0.89139442
111SOX2_19829295_ChIP-Seq_ESCs_Human0.89139442
112SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.88761260
113RNF2_18974828_ChIP-Seq_MESCs_Mouse0.88696694
114EZH2_18974828_ChIP-Seq_MESCs_Mouse0.88696694
115KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.87954307
116SMAD3_21741376_ChIP-Seq_EPCs_Human0.86512667
117* SMAD3_21741376_ChIP-Seq_HESCs_Human0.86070873
118EED_16625203_ChIP-ChIP_MESCs_Mouse0.85834305
119ATF3_27146783_Chip-Seq_COLON_Human0.85444984
120PIAS1_25552417_ChIP-Seq_VCAP_Human0.85352055
121EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.85143265
122OCT4_21477851_ChIP-Seq_ESCs_Mouse0.84988479
123UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.84745583
124FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.84228272
125TOP2B_26459242_ChIP-Seq_MCF-7_Human0.84139516
126SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84056553
127NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83930067
128NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83930067
129ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.83891896
130OCT4_20526341_ChIP-Seq_ESCs_Human0.83419306
131SOX2_21211035_ChIP-Seq_LN229_Gbm0.83001703
132AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82760345
133TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82292349
134NFE2_27457419_Chip-Seq_LIVER_Mouse0.82065506
135KLF5_20875108_ChIP-Seq_MESCs_Mouse0.81968574
136WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.80070942
137* SMAD4_21741376_ChIP-Seq_HESCs_Human0.79359847
138AHR_22903824_ChIP-Seq_MCF-7_Human0.77967764
139ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.77298304
140MTF2_20144788_ChIP-Seq_MESCs_Mouse0.76271743
141TP63_17297297_ChIP-ChIP_HaCaT_Human0.75371097
142LXR_22292898_ChIP-Seq_THP-1_Human0.75294731
143LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.74317434
144SMC1_22415368_ChIP-Seq_MEFs_Mouse0.73778100
145TCF4_18268006_ChIP-ChIP_LS174T_Human0.73515281
146GATA1_19941827_ChIP-Seq_MEL86_Mouse0.72965089
147EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.72199863
148TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.71979140
149TP53_20018659_ChIP-ChIP_R1E_Mouse0.71849212
150TDRD3_21172665_ChIP-Seq_MCF-7_Human0.71750793
151FOXA2_19822575_ChIP-Seq_HepG2_Human0.71014857
152BCAT_22108803_ChIP-Seq_LS180_Human0.70306936
153NFIB_24661679_ChIP-Seq_LUNG_Mouse0.67552493
154TP53_16413492_ChIP-PET_HCT116_Human0.67497283
155DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.66448003

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.28667339
2MP0004084_abnormal_cardiac_muscle5.81698343
3MP0000751_myopathy5.33466077
4MP0003646_muscle_fatigue4.76103659
5MP0000749_muscle_degeneration4.71067880
6MP0004036_abnormal_muscle_relaxation4.46094773
7MP0004215_abnormal_myocardial_fiber4.42910586
8MP0005330_cardiomyopathy3.91522045
9MP0004087_abnormal_muscle_fiber3.38095072
10MP0004145_abnormal_muscle_electrophysio3.37161774
11MP0002972_abnormal_cardiac_muscle3.20157421
12MP0000750_abnormal_muscle_regeneration3.11197357
13MP0002106_abnormal_muscle_physiology2.98637699
14MP0005620_abnormal_muscle_contractility2.94062126
15MP0003137_abnormal_impulse_conducting2.89272874
16MP0008775_abnormal_heart_ventricle2.80307235
17MP0010630_abnormal_cardiac_muscle2.67221767
18MP0005385_cardiovascular_system_phenoty2.50081890
19MP0001544_abnormal_cardiovascular_syste2.50081890
20MP0002269_muscular_atrophy2.49122376
21MP0000747_muscle_weakness2.44485366
22MP0005369_muscle_phenotype2.42958107
23MP0003828_pulmonary_edema2.36777167
24MP0006138_congestive_heart_failure2.33844682
25MP0000759_abnormal_skeletal_muscle2.33600496
26MP0004484_altered_response_of2.16755193
27MP0004130_abnormal_muscle_cell2.04085493
28MP0003950_abnormal_plasma_membrane2.04077955
29MP0004085_abnormal_heartbeat2.03151305
30MP0004510_myositis1.91991986
31MP0003221_abnormal_cardiomyocyte_apopto1.91811337
32MP0004233_abnormal_muscle_weight1.88935849
33MP0002127_abnormal_cardiovascular_syste1.83516422
34MP0003567_abnormal_fetal_cardiomyocyte1.57282027
35MP0000733_abnormal_muscle_development1.41511817
36MP0006036_abnormal_mitochondrial_physio1.37293492
37MP0002332_abnormal_exercise_endurance1.28257974
38MP0003279_aneurysm1.19085224
39MP0002234_abnormal_pharynx_morphology1.18547294
40MP0000266_abnormal_heart_morphology1.17812738
41MP0002108_abnormal_muscle_morphology1.12527702
42MP0005451_abnormal_body_composition1.03764535
43MP0005666_abnormal_adipose_tissue1.01251128
44MP0010368_abnormal_lymphatic_system0.99393657
45MP0005623_abnormal_meninges_morphology0.99385683
46MP0004270_analgesia0.94327827
47MP0001661_extended_life_span0.93804483
48MP0005670_abnormal_white_adipose0.92178839
49MP0003566_abnormal_cell_adhesion0.90858892
50MP0000343_altered_response_to0.86650524
51MP0004272_abnormal_basement_membrane0.85201212
52MP0002128_abnormal_blood_circulation0.82947598
53MP0006035_abnormal_mitochondrial_morpho0.80029017
54MP0000767_abnormal_smooth_muscle0.77918061
55MP0005165_increased_susceptibility_to0.75629229
56MP0005375_adipose_tissue_phenotype0.69661946
57MP0005266_abnormal_metabolism0.68463457
58MP0004185_abnormal_adipocyte_glucose0.67802105
59MP0003705_abnormal_hypodermis_morpholog0.65586004
60MP0002638_abnormal_pupillary_reflex0.64961523
61MP0009384_cardiac_valve_regurgitation0.60823908
62MP0008438_abnormal_cutaneous_collagen0.60629050
63MP0000230_abnormal_systemic_arterial0.59690892
64MP0002971_abnormal_brown_adipose0.59601249
65MP0003941_abnormal_skin_development0.58106861
66MP0002925_abnormal_cardiovascular_devel0.57565890
67MP0001879_abnormal_lymphatic_vessel0.57202683
68MP0003122_maternal_imprinting0.55613539
69MP0000372_irregular_coat_pigmentation0.52311037
70MP0000013_abnormal_adipose_tissue0.49748282
71MP0001784_abnormal_fluid_regulation0.48472829
72MP0005275_abnormal_skin_tensile0.48148528
73MP0002088_abnormal_embryonic_growth/wei0.46377755
74MP0003984_embryonic_growth_retardation0.46308088
75MP0005503_abnormal_tendon_morphology0.45883545
76MP0002822_catalepsy0.45160860
77MP0001614_abnormal_blood_vessel0.42863262
78MP0000003_abnormal_adipose_tissue0.41729854
79MP0003136_yellow_coat_color0.41346987
80MP0003948_abnormal_gas_homeostasis0.40325966
81MP0005377_hearing/vestibular/ear_phenot0.40133930
82MP0003878_abnormal_ear_physiology0.40133930
83MP0004142_abnormal_muscle_tone0.36657922
84MP0003385_abnormal_body_wall0.35270647
85MP0003806_abnormal_nucleotide_metabolis0.33522545
86MP0001984_abnormal_olfaction0.33417007
87MP0004924_abnormal_behavior0.33141228
88MP0005386_behavior/neurological_phenoty0.33141228
89MP0003879_abnormal_hair_cell0.31906250
90MP0006276_abnormal_autonomic_nervous0.30986603
91MP0008569_lethality_at_weaning0.30958921
92MP0001529_abnormal_vocalization0.29301231
93MP0005187_abnormal_penis_morphology0.28980728
94MP0009250_abnormal_appendicular_skeleto0.28876700
95MP0005167_abnormal_blood-brain_barrier0.28249654
96MP0005319_abnormal_enzyme/_coenzyme0.27787935
97MP0001672_abnormal_embryogenesis/_devel0.27114274
98MP0005380_embryogenesis_phenotype0.27114274
99MP0005332_abnormal_amino_acid0.25470162
100MP0002078_abnormal_glucose_homeostasis0.25361736
101MP0002909_abnormal_adrenal_gland0.25257801
102MP0001299_abnormal_eye_distance/0.25048871
103MP0009780_abnormal_chondrocyte_physiolo0.24856193
104MP0008961_abnormal_basal_metabolism0.24835609
105MP0002734_abnormal_mechanical_nocicepti0.24270102
106MP0002249_abnormal_larynx_morphology0.23933829
107MP0005595_abnormal_vascular_smooth0.23214562
108MP0000762_abnormal_tongue_morphology0.22919712
109MP0005584_abnormal_enzyme/coenzyme_acti0.22853450
110MP0004043_abnormal_pH_regulation0.22341388
111MP0010030_abnormal_orbit_morphology0.21958220
112MP0005376_homeostasis/metabolism_phenot0.21872344
113MP0002272_abnormal_nervous_system0.21813594
114MP0004147_increased_porphyrin_level0.21780714
115MP0009672_abnormal_birth_weight0.21605180
116MP0005388_respiratory_system_phenotype0.20275054
117MP0002133_abnormal_respiratory_system0.20275054
118MP0005535_abnormal_body_temperature0.19928114
119MP0003935_abnormal_craniofacial_develop0.19745272
120MP0002102_abnormal_ear_morphology0.19670839
121MP0003045_fibrosis0.19232493
122MP0001175_abnormal_lung_morphology0.18948051
123MP0002066_abnormal_motor_capabilities/c0.18543768
124MP0004134_abnormal_chest_morphology0.18191196
125MP0000428_abnormal_craniofacial_morphol0.18105793
126MP0004197_abnormal_fetal_growth/weight/0.17921439
127MP0002114_abnormal_axial_skeleton0.17836314
128MP0005452_abnormal_adipose_tissue0.17820259
129MP0001727_abnormal_embryo_implantation0.17621744

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.92055853
2Calf muscle hypertrophy (HP:0008981)6.56093832
3Muscle fiber splitting (HP:0003555)6.24780212
4Exercise-induced muscle cramps (HP:0003710)6.17212159
5Muscle hypertrophy of the lower extremities (HP:0008968)6.16475338
6Exercise-induced myalgia (HP:0003738)6.15253690
7Ventricular tachycardia (HP:0004756)5.99542009
8Abnormality of the left ventricular outflow tract (HP:0011103)5.84720061
9Subaortic stenosis (HP:0001682)5.84720061
10Abnormality of the calf musculature (HP:0001430)5.84154674
11Atrial fibrillation (HP:0005110)5.36571449
12Hyporeflexia of lower limbs (HP:0002600)5.34647852
13Type 1 muscle fiber predominance (HP:0003803)5.29995474
14Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.15724339
15Muscle fiber inclusion bodies (HP:0100299)5.12851493
16Lipoatrophy (HP:0100578)5.02570164
17Primary atrial arrhythmia (HP:0001692)5.01242482
18EMG: myopathic abnormalities (HP:0003458)4.93634874
19Supraventricular tachycardia (HP:0004755)4.84152351
20Supraventricular arrhythmia (HP:0005115)4.75762645
21Right ventricular cardiomyopathy (HP:0011663)4.59706395
22Nemaline bodies (HP:0003798)4.44438386
23Syncope (HP:0001279)4.26486193
24Dilated cardiomyopathy (HP:0001644)4.15869433
25Myoglobinuria (HP:0002913)4.15354938
26Asymmetric septal hypertrophy (HP:0001670)4.05491197
27Increased connective tissue (HP:0009025)4.01982765
28Prolonged QT interval (HP:0001657)4.00994176
29Difficulty running (HP:0009046)3.96167732
30Ventricular arrhythmia (HP:0004308)3.89115447
31Palpitations (HP:0001962)3.66645458
32Bundle branch block (HP:0011710)3.61304914
33Difficulty climbing stairs (HP:0003551)3.42817437
34Myotonia (HP:0002486)3.42765102
35Distal arthrogryposis (HP:0005684)3.33674808
36Neck muscle weakness (HP:0000467)3.29914101
37Rhabdomyolysis (HP:0003201)3.29873647
38Ventricular fibrillation (HP:0001663)3.23926394
39Round ear (HP:0100830)3.21332771
40Heart block (HP:0012722)3.18212506
41Atrioventricular block (HP:0001678)3.13803834
42Mildly elevated creatine phosphokinase (HP:0008180)3.08500312
43Abnormal atrioventricular conduction (HP:0005150)3.02727995
44Centrally nucleated skeletal muscle fibers (HP:0003687)2.99502626
45Abnormal EKG (HP:0003115)2.88922796
46Abnormality of skeletal muscle fiber size (HP:0012084)2.87631934
47Abnormal finger flexion creases (HP:0006143)2.79928546
48Increased variability in muscle fiber diameter (HP:0003557)2.76665853
49Generalized muscle weakness (HP:0003324)2.74302649
50Left ventricular hypertrophy (HP:0001712)2.67743941
51Myopathic facies (HP:0002058)2.63455515
52Gowers sign (HP:0003391)2.61696510
53EMG: neuropathic changes (HP:0003445)2.60711301
54Distal lower limb muscle weakness (HP:0009053)2.59569524
55Muscle stiffness (HP:0003552)2.57561524
56Areflexia of lower limbs (HP:0002522)2.54803574
57Ulnar deviation of the wrist (HP:0003049)2.46856368
58Palmoplantar keratoderma (HP:0000982)2.41599288
59Hip contracture (HP:0003273)2.40428822
60Malignant hyperthermia (HP:0002047)2.39586840
61Scapular winging (HP:0003691)2.39518803
62Hypoplastic heart (HP:0001961)2.39356363
63Rimmed vacuoles (HP:0003805)2.35607608
64Ragged-red muscle fibers (HP:0003200)2.32781206
65Fatigable weakness (HP:0003473)2.32583510
66Abnormality of the neuromuscular junction (HP:0003398)2.32583510
67Distal lower limb amyotrophy (HP:0008944)2.29147850
68Weak cry (HP:0001612)2.26245141
69Limb-girdle muscle atrophy (HP:0003797)2.21125929
70Hypoplastic ischia (HP:0003175)2.20511936
71Abnormality of the foot musculature (HP:0001436)2.15859572
72Fetal akinesia sequence (HP:0001989)2.12004121
73Muscular dystrophy (HP:0003560)2.11328049
74Bulbar palsy (HP:0001283)2.10006006
75Abnormal mitochondria in muscle tissue (HP:0008316)2.07095095
76Congenital malformation of the right heart (HP:0011723)2.05121058
77Double outlet right ventricle (HP:0001719)2.05121058
78Acute necrotizing encephalopathy (HP:0006965)2.04520953
79Testicular atrophy (HP:0000029)2.03372867
80Calcaneovalgus deformity (HP:0001848)1.95545129
81Type 2 muscle fiber atrophy (HP:0003554)1.93539300
82Facial diplegia (HP:0001349)1.93531588
83Sudden cardiac death (HP:0001645)1.93497983
84Spinal rigidity (HP:0003306)1.92527380
85Hepatic necrosis (HP:0002605)1.91255922
86Waddling gait (HP:0002515)1.90130203
87Hyperkalemia (HP:0002153)1.89461181
88Abnormality of the ischium (HP:0003174)1.89309840
89Frequent falls (HP:0002359)1.88997495
90Aplasia of the musculature (HP:0100854)1.88822017
91Popliteal pterygium (HP:0009756)1.88415700
92Abnormality of the calcaneus (HP:0008364)1.87813861
93Foot dorsiflexor weakness (HP:0009027)1.85207240
94Absent phalangeal crease (HP:0006109)1.84865246
95Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.83428629
96Hypoplastic left heart (HP:0004383)1.83142232
97Progressive muscle weakness (HP:0003323)1.83058764
98Respiratory insufficiency due to muscle weakness (HP:0002747)1.82976994
99Congestive heart failure (HP:0001635)1.82501399
100Conjunctival hamartoma (HP:0100780)1.80585583
101Proximal amyotrophy (HP:0007126)1.80004233
102Easy fatigability (HP:0003388)1.79093302
103Exercise intolerance (HP:0003546)1.76868454
104Lower limb amyotrophy (HP:0007210)1.76219016
105Abnormality of the shoulder girdle musculature (HP:0001435)1.74858370
106Deformed tarsal bones (HP:0008119)1.73642516
107Steppage gait (HP:0003376)1.72808801
108Muscle fiber atrophy (HP:0100295)1.70597144
109Limited hip movement (HP:0008800)1.68946192
110Increased intramyocellular lipid droplets (HP:0012240)1.61137217
111Slender build (HP:0001533)1.53720674
112Metatarsus adductus (HP:0001840)1.53051803
113Nonprogressive disorder (HP:0003680)1.48909713
114Increased muscle lipid content (HP:0009058)1.48224298

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.12879885
2TTN5.18469251
3PHKG23.70315475
4PHKG13.70315475
5MYLK3.64372080
6MUSK3.33307581
7DMPK3.25359394
8PKN23.11868860
9LMTK22.73007937
10STK242.71196294
11PDK42.61828402
12PDK32.61828402
13TRIB32.59755647
14PIK3CA2.44501927
15NEK12.06583497
16ZAK1.98282180
17TIE11.89289458
18PIK3CG1.61950836
19MARK11.59776599
20ILK1.56695752
21BCKDK1.51949705
22PDK21.49173950
23PINK11.45357845
24CDC42BPA1.25955188
25STK38L1.21675602
26MAPK121.19916044
27MAP3K71.19555541
28ROCK11.19124240
29PAK31.10324465
30TRPM71.09754540
31PRKD11.09061857
32CAMK2D1.07525906
33MAP3K51.05299522
34INSRR1.02596157
35MAP2K30.96960222
36MAPKAPK30.95965890
37DAPK30.93684704
38NME10.90920112
39FLT30.83170786
40PRKAA20.81725123
41PRKAA10.81514103
42CCNB10.81045350
43GRK70.79589455
44RIPK10.77188356
45STK40.75575198
46WNK40.73926998
47PTK2B0.73778834
48PKN10.71450280
49MAP3K30.66508861
50ROCK20.64537205
51AKT20.63607732
52EEF2K0.61066198
53MAP3K100.60786524
54MOS0.59799630
55PDGFRA0.56018737
56WNK10.54993872
57MAPK40.54743219
58CAMK2A0.53215835
59DYRK1B0.53203652
60TGFBR20.49680108
61CAMK40.48518452
62PRKACB0.48510962
63CAMK2B0.48433397
64EPHB20.47872857
65STK380.47009065
66CAMK10.46791481
67SIK10.45325208
68RPS6KL10.44834342
69RPS6KC10.44834342
70LIMK10.44577133
71FRK0.42774039
72ERBB30.42528163
73EPHB10.42037872
74KDR0.40804791
75LATS10.40570160
76PTK60.38335017
77PRKACA0.36312474
78RPS6KA60.35138674
79MAPK130.34835371
80CAMK2G0.34270643
81LATS20.33120493
82NEK90.32564656
83MAPK70.32471109
84TNIK0.31744711
85PRKCE0.31511997
86EPHA30.31297416
87PRKG10.31117115
88SGK20.30575583
89ICK0.30371450
90MTOR0.27663569
91BMPR1B0.26583720
92STK110.26579170
93SGK30.26284236
94MAP2K10.25470047
95PRKACG0.25446143
96DAPK20.21536724
97FER0.21427002
98MARK30.20281080
99ADRBK10.20131597
100MAPK110.20093320
101KSR20.19566536
102STK390.19480913
103RPS6KB20.19161548
104MAP4K20.17618102
105RPS6KA30.17130962
106PDPK10.16825645
107PRKG20.16693239
108MAPK100.16485965
109ADRBK20.15881108
110RPS6KA10.14530573
111MAPKAPK20.14487879
112FGFR10.14339218
113NLK0.13853952
114SGK4940.13566021
115SGK2230.13566021
116PDK10.12846973
117MAPKAPK50.12336879
118PAK20.12065049
119RPS6KA20.11970821
120SGK10.11728897
121PRKCQ0.09378866
122MAP2K60.09056705
123PRKCH0.08812799
124PRKD30.08795459
125STK30.08061514
126MAP2K40.07956894

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.44438305
2Cardiac muscle contraction_Homo sapiens_hsa042605.11414146
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.89961138
4Dilated cardiomyopathy_Homo sapiens_hsa054144.77656820
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.85643259
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.34423408
7Parkinsons disease_Homo sapiens_hsa050122.94618764
8Oxidative phosphorylation_Homo sapiens_hsa001902.74234817
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.54411169
10Propanoate metabolism_Homo sapiens_hsa006402.44693748
11Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.25891219
12Carbon metabolism_Homo sapiens_hsa012002.20182100
13Alzheimers disease_Homo sapiens_hsa050102.16833108
14Fatty acid degradation_Homo sapiens_hsa000712.14471845
15Viral myocarditis_Homo sapiens_hsa054162.11486246
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.94698437
17Huntingtons disease_Homo sapiens_hsa050161.81286565
18Fatty acid metabolism_Homo sapiens_hsa012121.60983832
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.50171642
20Pyruvate metabolism_Homo sapiens_hsa006201.37057018
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.34614451
22cGMP-PKG signaling pathway_Homo sapiens_hsa040221.32010364
23Glucagon signaling pathway_Homo sapiens_hsa049221.25930883
24Tight junction_Homo sapiens_hsa045301.19682561
25Starch and sucrose metabolism_Homo sapiens_hsa005001.18891860
26Insulin resistance_Homo sapiens_hsa049311.16012848
27Focal adhesion_Homo sapiens_hsa045101.13984849
28Biosynthesis of amino acids_Homo sapiens_hsa012301.09240697
29Insulin signaling pathway_Homo sapiens_hsa049101.07079071
30Oxytocin signaling pathway_Homo sapiens_hsa049211.00721240
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.98518430
32HIF-1 signaling pathway_Homo sapiens_hsa040660.94164078
33Calcium signaling pathway_Homo sapiens_hsa040200.93512517
34Adipocytokine signaling pathway_Homo sapiens_hsa049200.91866408
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.90344937
36Fatty acid elongation_Homo sapiens_hsa000620.88882782
37Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.85321439
38Nitrogen metabolism_Homo sapiens_hsa009100.80517092
39Vascular smooth muscle contraction_Homo sapiens_hsa042700.80278401
40ECM-receptor interaction_Homo sapiens_hsa045120.78172018
41Adherens junction_Homo sapiens_hsa045200.78055029
42AMPK signaling pathway_Homo sapiens_hsa041520.75519181
43Salivary secretion_Homo sapiens_hsa049700.73541642
44Lysine degradation_Homo sapiens_hsa003100.72395003
45Galactose metabolism_Homo sapiens_hsa000520.72086567
46Butanoate metabolism_Homo sapiens_hsa006500.71421479
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.68017782
48Central carbon metabolism in cancer_Homo sapiens_hsa052300.65650740
49PPAR signaling pathway_Homo sapiens_hsa033200.64343007
50Linoleic acid metabolism_Homo sapiens_hsa005910.63185969
51Pentose phosphate pathway_Homo sapiens_hsa000300.61830569
52Circadian rhythm_Homo sapiens_hsa047100.59600237
53Type II diabetes mellitus_Homo sapiens_hsa049300.57498276
54Fructose and mannose metabolism_Homo sapiens_hsa000510.55914953
55Amoebiasis_Homo sapiens_hsa051460.55762528
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55728803
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.53307272
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.50916320
59Phototransduction_Homo sapiens_hsa047440.50351461
60Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.49552833
61Pancreatic secretion_Homo sapiens_hsa049720.49174594
62Amphetamine addiction_Homo sapiens_hsa050310.48993970
63Proteoglycans in cancer_Homo sapiens_hsa052050.48377800
64Arginine and proline metabolism_Homo sapiens_hsa003300.48326083
65Renin secretion_Homo sapiens_hsa049240.46390670
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46189016
67Insulin secretion_Homo sapiens_hsa049110.45550059
68Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45365177
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44789517
70cAMP signaling pathway_Homo sapiens_hsa040240.43811851
71Regulation of autophagy_Homo sapiens_hsa041400.42267804
72beta-Alanine metabolism_Homo sapiens_hsa004100.41268618
73GABAergic synapse_Homo sapiens_hsa047270.41009413
74Bile secretion_Homo sapiens_hsa049760.39705670
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39094211
76Tryptophan metabolism_Homo sapiens_hsa003800.38708947
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37726147
78Gastric acid secretion_Homo sapiens_hsa049710.34489528
79Phenylalanine metabolism_Homo sapiens_hsa003600.34135635
80Arginine biosynthesis_Homo sapiens_hsa002200.32818335
81Morphine addiction_Homo sapiens_hsa050320.31739099
82Circadian entrainment_Homo sapiens_hsa047130.31070185
83Long-term potentiation_Homo sapiens_hsa047200.30966857
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.30328865
85Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29336289
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.28447370
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.28440860
88Fatty acid biosynthesis_Homo sapiens_hsa000610.26401058
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.25739487
90GnRH signaling pathway_Homo sapiens_hsa049120.24344812
91Platelet activation_Homo sapiens_hsa046110.23692391
92FoxO signaling pathway_Homo sapiens_hsa040680.23565423
93Serotonergic synapse_Homo sapiens_hsa047260.23151820
94mTOR signaling pathway_Homo sapiens_hsa041500.22885870
95Dopaminergic synapse_Homo sapiens_hsa047280.22638223
96Histidine metabolism_Homo sapiens_hsa003400.22309071
97Renal cell carcinoma_Homo sapiens_hsa052110.22089349
98Ovarian steroidogenesis_Homo sapiens_hsa049130.20024578
99Sulfur relay system_Homo sapiens_hsa041220.19115591
100Small cell lung cancer_Homo sapiens_hsa052220.17510417
101Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.16484632
102MAPK signaling pathway_Homo sapiens_hsa040100.16281422
103VEGF signaling pathway_Homo sapiens_hsa043700.14178591
104AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.13233385
105Notch signaling pathway_Homo sapiens_hsa043300.12552314
106Metabolic pathways_Homo sapiens_hsa011000.11786677
107Melanogenesis_Homo sapiens_hsa049160.11618467
108Gap junction_Homo sapiens_hsa045400.11475310
109PI3K-Akt signaling pathway_Homo sapiens_hsa041510.11044543
110Cholinergic synapse_Homo sapiens_hsa047250.09934998
111Peroxisome_Homo sapiens_hsa041460.08473445
112Hippo signaling pathway_Homo sapiens_hsa043900.08367388
113Toxoplasmosis_Homo sapiens_hsa051450.07391692
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.07006854
115Protein digestion and absorption_Homo sapiens_hsa049740.06046324
116Basal cell carcinoma_Homo sapiens_hsa052170.05321361
117Dorso-ventral axis formation_Homo sapiens_hsa043200.04707008
118Taste transduction_Homo sapiens_hsa047420.04127076
119Olfactory transduction_Homo sapiens_hsa047400.04030255
120Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.03723361
121Tyrosine metabolism_Homo sapiens_hsa003500.03448764
122Pathways in cancer_Homo sapiens_hsa052000.03265663
123Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.02972363

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