GYG1

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 member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)8.69046202
2muscle filament sliding (GO:0030049)8.42088397
3actin-myosin filament sliding (GO:0033275)8.42088397
4actin-mediated cell contraction (GO:0070252)7.06461092
5regulation of meiosis I (GO:0060631)6.49809135
6synapsis (GO:0007129)6.43243241
7sarcoplasmic reticulum calcium ion transport (GO:0070296)6.14299804
8DNA methylation involved in gamete generation (GO:0043046)6.04689647
9skeletal muscle contraction (GO:0003009)6.03268018
10regulation of relaxation of muscle (GO:1901077)6.02956278
11male meiosis I (GO:0007141)5.89408904
12regulation of skeletal muscle contraction (GO:0014819)5.59486741
13sarcomere organization (GO:0045214)4.88447032
14actin filament-based movement (GO:0030048)4.84489183
15meiosis I (GO:0007127)4.79023471
16regulation of female gonad development (GO:2000194)4.74855801
17male meiosis (GO:0007140)4.71072943
18chromosome organization involved in meiosis (GO:0070192)4.69373998
19striated muscle contraction (GO:0006941)4.58086776
20meiotic nuclear division (GO:0007126)4.52889117
21myofibril assembly (GO:0030239)4.40340135
22positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.35373173
23regulation of acrosome reaction (GO:0060046)4.31982722
24response to muscle activity (GO:0014850)4.24837611
25positive regulation of meiosis (GO:0045836)4.23212357
26synaptonemal complex organization (GO:0070193)4.20424062
27synaptonemal complex assembly (GO:0007130)4.08125819
28female gamete generation (GO:0007292)4.03796950
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.03432745
30meiotic cell cycle (GO:0051321)3.98603604
31tricarboxylic acid cycle (GO:0006099)3.97311065
32positive regulation of meiotic cell cycle (GO:0051446)3.93174480
33* glycogen catabolic process (GO:0005980)3.90997719
34* glycogen biosynthetic process (GO:0005978)3.87998231
35* glucan biosynthetic process (GO:0009250)3.87998231
36* glucan catabolic process (GO:0009251)3.73700117
37proteasome assembly (GO:0043248)3.70945415
38regulation of DNA methylation (GO:0044030)3.61547733
39* cellular polysaccharide catabolic process (GO:0044247)3.57969211
40skeletal muscle fiber development (GO:0048741)3.56163242
41purine nucleotide salvage (GO:0032261)3.52117020
42heart process (GO:0003015)3.50144690
43heart contraction (GO:0060047)3.50144690
44oocyte development (GO:0048599)3.47975302
45cardiac muscle contraction (GO:0060048)3.42687150
46response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.42627743
47regulation of actin filament-based movement (GO:1903115)3.41439327
48actomyosin structure organization (GO:0031032)3.40474533
49muscle contraction (GO:0006936)3.39520674
50regulation of meiosis (GO:0040020)3.37252685
51creatine metabolic process (GO:0006600)3.34696779
52negative regulation of reproductive process (GO:2000242)3.33176750
53* polysaccharide catabolic process (GO:0000272)3.28752549
54regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.24555677
55phosphorylated carbohydrate dephosphorylation (GO:0046838)3.23700505
56inositol phosphate dephosphorylation (GO:0046855)3.23700505
57meiotic cell cycle process (GO:1903046)3.22835809
58negative regulation of muscle contraction (GO:0045932)3.22366593
59regulation of meiotic cell cycle (GO:0051445)3.21279150
60gene silencing by RNA (GO:0031047)3.19681223
61myotube cell development (GO:0014904)3.17516146
62negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.17323195
63muscle cell cellular homeostasis (GO:0046716)3.16173893
64multicellular organism reproduction (GO:0032504)3.14750648
65relaxation of smooth muscle (GO:0044557)3.11778125
66positive regulation of histone H3-K4 methylation (GO:0051571)3.09602246
67muscle system process (GO:0003012)3.09342800
68neutrophil activation involved in immune response (GO:0002283)3.08672727
69regulation of cell communication by electrical coupling (GO:0010649)3.08100835
70NADH metabolic process (GO:0006734)3.07974629
71cullin deneddylation (GO:0010388)3.04991983
72cardiac muscle hypertrophy (GO:0003300)3.03487055
73binding of sperm to zona pellucida (GO:0007339)3.01056470
74* glycogen metabolic process (GO:0005977)2.97947107
75positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.97902445
76* glucan metabolic process (GO:0044042)2.94247002
77* cellular glucan metabolic process (GO:0006073)2.94247002
78cardiac myofibril assembly (GO:0055003)2.92795242
79relaxation of muscle (GO:0090075)2.91306538
80striated muscle hypertrophy (GO:0014897)2.90907799
81plasma membrane repair (GO:0001778)2.89896894
82response to inactivity (GO:0014854)2.87529618
83protein deneddylation (GO:0000338)2.87194107
84AMP metabolic process (GO:0046033)2.86962007
85skeletal muscle tissue regeneration (GO:0043403)2.84073538
86oogenesis (GO:0048477)2.82584609
87regulation of striated muscle contraction (GO:0006942)2.79425979
88purine-containing compound salvage (GO:0043101)2.76134723
89retinal cone cell development (GO:0046549)2.75901262
90regulation of ATP catabolic process (GO:1903289)2.75859158
91regulation of ATPase activity (GO:0043462)2.75859158
92skeletal muscle adaptation (GO:0043501)2.75206206
93inositol phosphate catabolic process (GO:0071545)2.74576437
94sister chromatid cohesion (GO:0007062)2.70969157
95response to activity (GO:0014823)2.70600056
96regulation of histone H3-K9 methylation (GO:0051570)2.70447042
97cardiac muscle tissue morphogenesis (GO:0055008)2.69806544
98muscle tissue morphogenesis (GO:0060415)2.68226740
99cardiac muscle cell development (GO:0055013)2.66871245
100negative regulation of meiosis (GO:0045835)2.66572319

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse6.09681614
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.49233647
3EZH2_22144423_ChIP-Seq_EOC_Human5.14002526
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.13433490
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.00485559
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.84158967
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.77993551
8SMAD_19615063_ChIP-ChIP_OVARY_Human2.71925241
9MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.32712726
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.27446938
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.09541969
12PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07965438
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.07652452
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.00181700
15CREB1_15753290_ChIP-ChIP_HEK293T_Human1.98996725
16ESR1_20079471_ChIP-ChIP_T-47D_Human1.91846119
17ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.85187638
18GABP_17652178_ChIP-ChIP_JURKAT_Human1.85152939
19SRF_21415370_ChIP-Seq_HL-1_Mouse1.76128124
20EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.75554202
21FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.70994731
22RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.68055614
23HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.66890405
24TFEB_21752829_ChIP-Seq_HELA_Human1.64278018
25STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.62187554
26MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.59543322
27HTT_18923047_ChIP-ChIP_STHdh_Human1.57779227
28BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.57409828
29TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56180839
30VDR_23849224_ChIP-Seq_CD4+_Human1.52612210
31FLI1_27457419_Chip-Seq_LIVER_Mouse1.43696767
32GATA4_21415370_ChIP-Seq_HL-1_Mouse1.42677520
33TBX20_22328084_ChIP-Seq_HEART_Mouse1.40476142
34TBX20_22080862_ChIP-Seq_HEART_Mouse1.40476142
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.36082887
36EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.35000074
37EST1_17652178_ChIP-ChIP_JURKAT_Human1.33913826
38ER_23166858_ChIP-Seq_MCF-7_Human1.33145096
39HOXB4_20404135_ChIP-ChIP_EML_Mouse1.32104287
40PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.29001379
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.28771498
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.25507449
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.24222939
44FOXP3_21729870_ChIP-Seq_TREG_Human1.22365584
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.22244067
46LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.20362835
47IRF8_21731497_ChIP-ChIP_J774_Mouse1.19279316
48SALL4_22934838_ChIP-ChIP_CD34+_Human1.18367275
49GATA3_26560356_Chip-Seq_TH1_Human1.17536029
50NANOG_20526341_ChIP-Seq_ESCs_Human1.17083359
51TP53_22573176_ChIP-Seq_HFKS_Human1.16656284
52MYB_21317192_ChIP-Seq_ERMYB_Mouse1.15564960
53EZH2_27294783_Chip-Seq_NPCs_Mouse1.14711267
54* FOXH1_21741376_ChIP-Seq_EPCs_Human1.14307857
55THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12822962
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08014348
57* NANOG_19829295_ChIP-Seq_ESCs_Human1.07900318
58* SOX2_19829295_ChIP-Seq_ESCs_Human1.07900318
59* AR_20517297_ChIP-Seq_VCAP_Human1.03013732
60CBP_21632823_ChIP-Seq_H3396_Human1.02575197
61IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.00605110
62RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.00563413
63PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.99987556
64CRX_20693478_ChIP-Seq_RETINA_Mouse0.99167494
65FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.98343752
66* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97229255
67SPI1_23547873_ChIP-Seq_NB4_Human0.94391219
68FOXM1_26456572_ChIP-Seq_MCF-7_Human0.94068860
69CDX2_22108803_ChIP-Seq_LS180_Human0.93936438
70IGF1R_20145208_ChIP-Seq_DFB_Human0.93494045
71STAT1_20625510_ChIP-Seq_HELA_Human0.91883617
72ERG_20517297_ChIP-Seq_VCAP_Human0.90497310
73PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.88859767
74IRF8_27001747_Chip-Seq_BMDM_Mouse0.88503849
75SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.88353713
76ERG_20887958_ChIP-Seq_HPC-7_Mouse0.87943797
77VDR_22108803_ChIP-Seq_LS180_Human0.87638775
78PADI4_21655091_ChIP-ChIP_MCF-7_Human0.86656174
79GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.86453463
80TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85570093
81ELK1_19687146_ChIP-ChIP_HELA_Human0.85443676
82GATA1_19941827_ChIP-Seq_MEL86_Mouse0.85399011
83KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.84887218
84KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.84887218
85KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.84887218
86ZFX_18555785_ChIP-Seq_MESCs_Mouse0.84847822
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.83890235
88CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.82915279
89ETS1_20019798_ChIP-Seq_JURKAT_Human0.82527771
90SUZ12_27294783_Chip-Seq_NPCs_Mouse0.82350407
91* CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.82149330
92SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.81957838
93MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.80840307
94NOTCH1_21737748_ChIP-Seq_TLL_Human0.80781806
95PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.80432405
96PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.80218105
97FOXA1_21572438_ChIP-Seq_LNCaP_Human0.79686601
98CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.79501134
99KLF5_20875108_ChIP-Seq_MESCs_Mouse0.79069744
100CBP_20019798_ChIP-Seq_JUKART_Human0.78873717

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.24373144
2MP0000749_muscle_degeneration4.97177531
3MP0004145_abnormal_muscle_electrophysio4.80077327
4MP0000751_myopathy4.17744450
5MP0004036_abnormal_muscle_relaxation4.08610900
6MP0008877_abnormal_DNA_methylation3.84607664
7MP0004084_abnormal_cardiac_muscle3.24767274
8MP0002837_dystrophic_cardiac_calcinosis3.23464790
9MP0003718_maternal_effect2.88353471
10MP0005330_cardiomyopathy2.85408152
11MP0002269_muscular_atrophy2.84510040
12MP0002106_abnormal_muscle_physiology2.80275923
13MP0000747_muscle_weakness2.76531142
14MP0006036_abnormal_mitochondrial_physio2.72639784
15MP0004087_abnormal_muscle_fiber2.65820569
16MP0000759_abnormal_skeletal_muscle2.60228770
17MP0005369_muscle_phenotype2.43562127
18MP0003950_abnormal_plasma_membrane2.39485564
19MP0005451_abnormal_body_composition2.39260191
20MP0005620_abnormal_muscle_contractility2.38860012
21MP0004215_abnormal_myocardial_fiber2.33996045
22MP0002332_abnormal_exercise_endurance2.31164736
23MP0000750_abnormal_muscle_regeneration2.12236514
24MP0003806_abnormal_nucleotide_metabolis2.11708360
25MP0004233_abnormal_muscle_weight2.06425491
26MP0002972_abnormal_cardiac_muscle2.05928927
27MP0002127_abnormal_cardiovascular_syste1.64856089
28MP0000013_abnormal_adipose_tissue1.62972365
29MP0002108_abnormal_muscle_morphology1.60332311
30MP0001929_abnormal_gametogenesis1.58909839
31MP0002210_abnormal_sex_determination1.58527239
32MP0004484_altered_response_of1.58089892
33MP0001544_abnormal_cardiovascular_syste1.46740989
34MP0005385_cardiovascular_system_phenoty1.46740989
35MP0005266_abnormal_metabolism1.39786164
36MP0009780_abnormal_chondrocyte_physiolo1.38160214
37MP0000733_abnormal_muscle_development1.24093608
38MP0000372_irregular_coat_pigmentation1.17282322
39MP0005058_abnormal_lysosome_morphology1.16472175
40MP0008775_abnormal_heart_ventricle1.15689821
41MP0004130_abnormal_muscle_cell1.14683462
42MP0010630_abnormal_cardiac_muscle1.14148719
43MP0005395_other_phenotype1.13516655
44MP0000653_abnormal_sex_gland1.13036474
45MP0005319_abnormal_enzyme/_coenzyme1.12069019
46MP0003941_abnormal_skin_development1.09869977
47MP0008058_abnormal_DNA_repair1.09861090
48MP0006138_congestive_heart_failure1.07812516
49MP0003186_abnormal_redox_activity1.07762997
50MP0005410_abnormal_fertilization1.06393898
51MP0003828_pulmonary_edema1.02967422
52MP0001145_abnormal_male_reproductive1.00951828
53MP0010234_abnormal_vibrissa_follicle1.00903665
54MP0002160_abnormal_reproductive_system0.98000780
55MP0008789_abnormal_olfactory_epithelium0.97442869
56MP0005075_abnormal_melanosome_morpholog0.96781876
57MP0001661_extended_life_span0.95057613
58MP0003879_abnormal_hair_cell0.92897773
59MP0006035_abnormal_mitochondrial_morpho0.92628133
60MP0003221_abnormal_cardiomyocyte_apopto0.87362816
61MP0009785_altered_susceptibility_to0.86385771
62MP0003699_abnormal_female_reproductive0.86043151
63MP0010368_abnormal_lymphatic_system0.84806929
64MP0003698_abnormal_male_reproductive0.84264966
65MP0001986_abnormal_taste_sensitivity0.83914563
66MP0009840_abnormal_foam_cell0.80027509
67MP0003137_abnormal_impulse_conducting0.79684318
68MP0005389_reproductive_system_phenotype0.74187968
69MP0000343_altered_response_to0.70661721
70MP0000003_abnormal_adipose_tissue0.69167978
71MP0010307_abnormal_tumor_latency0.68079341
72MP0004085_abnormal_heartbeat0.68027024
73MP0002161_abnormal_fertility/fecundity0.67678396
74MP0004510_myositis0.67614665
75MP0001119_abnormal_female_reproductive0.67392151
76MP0001835_abnormal_antigen_presentation0.66098592
77MP0002971_abnormal_brown_adipose0.64905686
78MP0002876_abnormal_thyroid_physiology0.62762824
79MP0002090_abnormal_vision0.61131430
80MP0005332_abnormal_amino_acid0.59999827
81MP0005174_abnormal_tail_pigmentation0.59801201
82MP0002078_abnormal_glucose_homeostasis0.58575561
83MP0001984_abnormal_olfaction0.57368896
84MP0004142_abnormal_muscle_tone0.57323905
85MP0002139_abnormal_hepatobiliary_system0.56926549
86MP0006082_CNS_inflammation0.56870277
87MP0000685_abnormal_immune_system0.55950992
88MP0005376_homeostasis/metabolism_phenot0.55519787
89MP0000015_abnormal_ear_pigmentation0.55450249
90MP0010094_abnormal_chromosome_stability0.52750339
91MP0002419_abnormal_innate_immunity0.49891213
92MP0003195_calcinosis0.49603550
93MP0003183_abnormal_peptide_metabolism0.49011146
94MP0002138_abnormal_hepatobiliary_system0.47820979
95MP0002693_abnormal_pancreas_physiology0.47049964
96MP0005166_decreased_susceptibility_to0.46994159
97MP0003786_premature_aging0.43765387
98MP0002148_abnormal_hypersensitivity_rea0.43384812
99MP0000358_abnormal_cell_content/0.43224892
100MP0003656_abnormal_erythrocyte_physiolo0.42792304

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.25167011
2Nemaline bodies (HP:0003798)9.23460529
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)8.97714713
4Type 1 muscle fiber predominance (HP:0003803)6.62598848
5Exercise-induced myalgia (HP:0003738)6.26696486
6Exercise-induced muscle cramps (HP:0003710)5.93106324
7Muscle hypertrophy of the lower extremities (HP:0008968)4.82996908
8Muscle fiber splitting (HP:0003555)4.82620195
9Rhabdomyolysis (HP:0003201)4.66062154
10Distal arthrogryposis (HP:0005684)4.64123802
11EMG: myopathic abnormalities (HP:0003458)4.61817467
12Myoglobinuria (HP:0002913)4.40776311
13Calf muscle hypertrophy (HP:0008981)4.36807144
14Hyporeflexia of lower limbs (HP:0002600)4.11450207
15Myopathic facies (HP:0002058)4.02006105
16Ulnar deviation of the wrist (HP:0003049)3.90579216
17Abnormality of the calf musculature (HP:0001430)3.88826239
18Neck muscle weakness (HP:0000467)3.85072480
19Abnormality of skeletal muscle fiber size (HP:0012084)3.73815422
20Centrally nucleated skeletal muscle fibers (HP:0003687)3.69009812
21Rimmed vacuoles (HP:0003805)3.59150701
22Muscle stiffness (HP:0003552)3.51335255
23Round ear (HP:0100830)3.38319359
24Abnormality of the left ventricular outflow tract (HP:0011103)3.30680712
25Subaortic stenosis (HP:0001682)3.30680712
26Sudden death (HP:0001699)3.19660147
27Asymmetric septal hypertrophy (HP:0001670)3.18141867
28Increased connective tissue (HP:0009025)3.08256959
29Absent phalangeal crease (HP:0006109)3.05338760
30Increased variability in muscle fiber diameter (HP:0003557)3.05265579
31Distal lower limb muscle weakness (HP:0009053)3.03189474
32Areflexia of lower limbs (HP:0002522)2.90956728
33Difficulty running (HP:0009046)2.84380570
34* Bundle branch block (HP:0011710)2.67588352
35Ventricular tachycardia (HP:0004756)2.58433056
36Dilated cardiomyopathy (HP:0001644)2.56936228
37Gonadotropin excess (HP:0000837)2.54193215
38Frequent falls (HP:0002359)2.53658290
39Abnormal finger flexion creases (HP:0006143)2.44739724
40Myotonia (HP:0002486)2.39604349
41EMG: neuropathic changes (HP:0003445)2.37189674
42Weak cry (HP:0001612)2.35029889
43Ragged-red muscle fibers (HP:0003200)2.32020824
44Calcaneovalgus deformity (HP:0001848)2.31806501
45Malignant hyperthermia (HP:0002047)2.30992724
46Hypoglycemic coma (HP:0001325)2.23779106
47Generalized muscle weakness (HP:0003324)2.17039190
48Slender build (HP:0001533)2.16898898
49Palpitations (HP:0001962)2.15140582
50Bulbar palsy (HP:0001283)2.12187148
51Hepatic necrosis (HP:0002605)2.10983180
52Lipoatrophy (HP:0100578)2.09633014
53Progressive muscle weakness (HP:0003323)2.06750158
54Deformed tarsal bones (HP:0008119)2.01951810
55Hyperinsulinemic hypoglycemia (HP:0000825)2.01762541
56Hip contracture (HP:0003273)2.01665932
57Exercise intolerance (HP:0003546)2.01511949
58Facial diplegia (HP:0001349)1.98993347
59Hyperkalemia (HP:0002153)1.95149513
60Gowers sign (HP:0003391)1.92641515
61Muscular dystrophy (HP:0003560)1.91602395
62Increased intramyocellular lipid droplets (HP:0012240)1.89539727
63Insulin-resistant diabetes mellitus (HP:0000831)1.88286053
64Spinal rigidity (HP:0003306)1.86923689
65Respiratory insufficiency due to muscle weakness (HP:0002747)1.85907086
66Mildly elevated creatine phosphokinase (HP:0008180)1.84881355
67Hypokinesia (HP:0002375)1.80299603
68Loss of speech (HP:0002371)1.79357690
69* Ventricular arrhythmia (HP:0004308)1.71092271
70Decreased activity of mitochondrial respiratory chain (HP:0008972)1.69524063
71Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.69524063
72Aplasia/Hypoplasia of the fovea (HP:0008060)1.68400752
73Hypoplasia of the fovea (HP:0007750)1.68400752
74Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.68199658
75Abnormality of dicarboxylic acid metabolism (HP:0010995)1.67601876
76Dicarboxylic aciduria (HP:0003215)1.67601876
77Difficulty climbing stairs (HP:0003551)1.66918643
78Azoospermia (HP:0000027)1.66848740
79Increased muscle lipid content (HP:0009058)1.64937675
80Generalized aminoaciduria (HP:0002909)1.64503046
81Proximal tubulopathy (HP:0000114)1.64460388
82Abnormality of fatty-acid metabolism (HP:0004359)1.64251212
83Abnormal gallbladder physiology (HP:0012438)1.62804421
84Cholecystitis (HP:0001082)1.62804421
85Posterior subcapsular cataract (HP:0007787)1.61755066
86Fetal akinesia sequence (HP:0001989)1.61719056
87Type 2 muscle fiber atrophy (HP:0003554)1.60014269
88Abnormality of the shoulder girdle musculature (HP:0001435)1.58553361
89Ventricular fibrillation (HP:0001663)1.57114639
90Malnutrition (HP:0004395)1.56142660
91Hepatocellular necrosis (HP:0001404)1.54317969
92Limb-girdle muscle atrophy (HP:0003797)1.54109371
93Progressive external ophthalmoplegia (HP:0000590)1.54013262
94Abnormality of the fovea (HP:0000493)1.53724572
95Increased CSF lactate (HP:0002490)1.52361695
96Acute necrotizing encephalopathy (HP:0006965)1.52289640
97Syncope (HP:0001279)1.52103376
98Fatigable weakness (HP:0003473)1.50780855
99Abnormality of the neuromuscular junction (HP:0003398)1.50780855
100Waddling gait (HP:0002515)1.49532941

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.88975245
2PHKG24.11169539
3PHKG14.11169539
4TTN4.00055241
5PIK3CG3.34501530
6CDK192.53311202
7MAP3K132.47382016
8MAP2K32.31174526
9ARAF2.10206855
10PDK22.03461883
11PINK11.87952063
12TRPM71.80422596
13MOS1.78447344
14EIF2AK31.76143862
15MYLK1.72492259
16LIMK11.70760729
17MAP3K121.61644842
18MAPKAPK31.58050597
19STK241.53045995
20NEK11.39551670
21MAP3K91.30637099
22STK161.26727958
23MST41.18519977
24TRIM281.13103751
25BRAF1.12816457
26ACVR1B1.11858093
27NEK91.11517600
28OXSR11.06656788
29MUSK1.05729164
30TESK11.05726978
31BMPR1B0.96360748
32TAOK30.96022135
33PIK3CA0.95814483
34NEK60.92342955
35DMPK0.89326425
36KSR20.89304682
37MAPK120.86704461
38MAP2K60.85325886
39MAP3K70.82528829
40TTK0.82228984
41TYK20.80714934
42MAP3K50.79401808
43FRK0.71395473
44ZAP700.70131072
45RAF10.68642385
46GRK70.67880720
47TNK20.67691882
48GRK10.65557535
49TBK10.63777200
50CAMK2G0.63567598
51TIE10.63320724
52CAMK2D0.63197904
53MET0.61734195
54STK30.61658751
55CSF1R0.58294444
56MARK30.57713189
57BCKDK0.56788349
58PRKG10.56756005
59STK390.55742280
60PTK2B0.52886502
61MAP3K30.52639250
62PNCK0.52597255
63RPS6KB20.52074941
64PDK10.51248175
65ROCK10.51202035
66ILK0.50233816
67AKT20.48836721
68TGFBR10.47710453
69ERBB30.46724190
70TESK20.46608689
71SCYL20.46581899
72TGFBR20.45528830
73PDPK10.45269202
74PRKAA20.45152496
75KSR10.43322425
76MAP4K20.41369791
77STK38L0.40607052
78PLK10.39441879
79LRRK20.37837733
80ZAK0.36647490
81KIT0.36574661
82MAP2K10.36048069
83PRKCI0.35270530
84CDK90.35123429
85MAP2K40.34934996
86PTK20.32733798
87PRKAA10.32623118
88PRKD10.32240940
89MAP3K10.31752961
90CAMK2A0.31673465
91PRKACB0.31547007
92PAK10.30201628
93AURKA0.30082894
94CAMK10.29760019
95MAPK110.28647766
96RPS6KB10.23878006
97NUAK10.22857882
98EPHB10.22699947
99BMPR20.22233073
100CDK80.21616663

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.25502877
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.05211960
3Cardiac muscle contraction_Homo sapiens_hsa042603.03313676
4Fatty acid elongation_Homo sapiens_hsa000622.76983007
5Circadian rhythm_Homo sapiens_hsa047102.65375246
6Proteasome_Homo sapiens_hsa030502.63098012
7Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.59956648
8Propanoate metabolism_Homo sapiens_hsa006402.45597508
9Parkinsons disease_Homo sapiens_hsa050122.39330028
10Pentose phosphate pathway_Homo sapiens_hsa000302.38110662
11Oxidative phosphorylation_Homo sapiens_hsa001902.34245552
12Dilated cardiomyopathy_Homo sapiens_hsa054142.14681082
13Basal transcription factors_Homo sapiens_hsa030222.09809668
14Carbon metabolism_Homo sapiens_hsa012002.02149632
15Regulation of autophagy_Homo sapiens_hsa041401.87858402
16Oocyte meiosis_Homo sapiens_hsa041141.72428325
17SNARE interactions in vesicular transport_Homo sapiens_hsa041301.72014768
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.64991379
19Mismatch repair_Homo sapiens_hsa034301.55869251
20RNA degradation_Homo sapiens_hsa030181.51796296
21Nucleotide excision repair_Homo sapiens_hsa034201.44697009
22Alzheimers disease_Homo sapiens_hsa050101.41891728
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.40720248
24Homologous recombination_Homo sapiens_hsa034401.39618305
25Pyruvate metabolism_Homo sapiens_hsa006201.34649943
26Folate biosynthesis_Homo sapiens_hsa007901.30228287
27Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.28186278
28Protein export_Homo sapiens_hsa030601.26929064
29Huntingtons disease_Homo sapiens_hsa050161.23005077
30Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.22931256
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.16859830
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.15765996
33Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.15669869
34Glucagon signaling pathway_Homo sapiens_hsa049221.14151260
35Legionellosis_Homo sapiens_hsa051341.14043895
36Ovarian steroidogenesis_Homo sapiens_hsa049131.12140248
37Base excision repair_Homo sapiens_hsa034101.08146804
38Calcium signaling pathway_Homo sapiens_hsa040201.07702899
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06664945
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04734099
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.04307820
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03707279
43Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03206655
44Sulfur metabolism_Homo sapiens_hsa009201.00907204
45Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.97724467
46Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.95992945
47Viral myocarditis_Homo sapiens_hsa054160.95287780
48Maturity onset diabetes of the young_Homo sapiens_hsa049500.95265571
49DNA replication_Homo sapiens_hsa030300.94360255
50Collecting duct acid secretion_Homo sapiens_hsa049660.94129508
51RNA transport_Homo sapiens_hsa030130.91633456
52Purine metabolism_Homo sapiens_hsa002300.90536446
53Other glycan degradation_Homo sapiens_hsa005110.88149770
54Cell cycle_Homo sapiens_hsa041100.87502208
55Arginine and proline metabolism_Homo sapiens_hsa003300.86608994
56Galactose metabolism_Homo sapiens_hsa000520.85397543
57Insulin signaling pathway_Homo sapiens_hsa049100.85200024
58Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.84687822
59Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.84594832
60Oxytocin signaling pathway_Homo sapiens_hsa049210.83935030
61Dorso-ventral axis formation_Homo sapiens_hsa043200.82431756
62Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.80018507
63Asthma_Homo sapiens_hsa053100.79109344
64Fructose and mannose metabolism_Homo sapiens_hsa000510.74860488
65Lysosome_Homo sapiens_hsa041420.74679311
66Phagosome_Homo sapiens_hsa041450.71927926
67Glutathione metabolism_Homo sapiens_hsa004800.69689179
68Fanconi anemia pathway_Homo sapiens_hsa034600.68607725
69Type I diabetes mellitus_Homo sapiens_hsa049400.67919525
70Fatty acid metabolism_Homo sapiens_hsa012120.66029277
71Phototransduction_Homo sapiens_hsa047440.65906824
72Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.61310805
73Fatty acid degradation_Homo sapiens_hsa000710.61154305
74Peroxisome_Homo sapiens_hsa041460.59108402
75Insulin resistance_Homo sapiens_hsa049310.57869341
76Non-homologous end-joining_Homo sapiens_hsa034500.54448845
77Rheumatoid arthritis_Homo sapiens_hsa053230.54239992
78Tuberculosis_Homo sapiens_hsa051520.49865248
79mTOR signaling pathway_Homo sapiens_hsa041500.49272582
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48269786
81Leishmaniasis_Homo sapiens_hsa051400.47962594
82Inositol phosphate metabolism_Homo sapiens_hsa005620.47230685
83Vascular smooth muscle contraction_Homo sapiens_hsa042700.46958057
84Antigen processing and presentation_Homo sapiens_hsa046120.46579310
85p53 signaling pathway_Homo sapiens_hsa041150.45927691
86Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.42629183
87Olfactory transduction_Homo sapiens_hsa047400.42010772
88Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40623998
89Metabolic pathways_Homo sapiens_hsa011000.37728359
90Vibrio cholerae infection_Homo sapiens_hsa051100.37344336
91Allograft rejection_Homo sapiens_hsa053300.37290681
92Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37256375
93FoxO signaling pathway_Homo sapiens_hsa040680.32624954
94Pyrimidine metabolism_Homo sapiens_hsa002400.32602834
95RNA polymerase_Homo sapiens_hsa030200.32508651
96Starch and sucrose metabolism_Homo sapiens_hsa005000.30556573
97Butanoate metabolism_Homo sapiens_hsa006500.29292731
98Biosynthesis of amino acids_Homo sapiens_hsa012300.28773218
99Staphylococcus aureus infection_Homo sapiens_hsa051500.28285282
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.28187838

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