KBTBD13

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: The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)6.72603773
2muscle filament sliding (GO:0030049)6.72603773
3regulation of skeletal muscle contraction (GO:0014819)6.20123998
4actin-mediated cell contraction (GO:0070252)5.44811435
5interferon-gamma secretion (GO:0072643)5.33537827
6regulation of mitochondrial translation (GO:0070129)5.20469275
7skeletal muscle contraction (GO:0003009)4.83163621
8maturation of SSU-rRNA (GO:0030490)4.79599929
9folic acid metabolic process (GO:0046655)4.66234406
10oxidative phosphorylation (GO:0006119)4.61282864
11tricarboxylic acid cycle (GO:0006099)4.48257823
12carnitine shuttle (GO:0006853)4.33038954
13mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.31690170
14sarcoplasmic reticulum calcium ion transport (GO:0070296)4.27902142
15sarcomere organization (GO:0045214)4.26683819
16formation of translation preinitiation complex (GO:0001731)4.23155836
17regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.22790647
18purine nucleotide salvage (GO:0032261)4.19766280
19plasma membrane repair (GO:0001778)4.18702590
20ribosomal large subunit biogenesis (GO:0042273)4.17160389
21NADH metabolic process (GO:0006734)4.15950621
22ribosomal small subunit assembly (GO:0000028)4.06538533
23folic acid transport (GO:0015884)4.04624077
24skeletal muscle adaptation (GO:0043501)4.04187299
25IMP metabolic process (GO:0046040)3.99100032
26skeletal muscle tissue regeneration (GO:0043403)3.95571113
27purine nucleobase biosynthetic process (GO:0009113)3.92867943
28actin filament-based movement (GO:0030048)3.86360240
29negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.85916853
30nucleobase biosynthetic process (GO:0046112)3.77739282
31ubiquinone biosynthetic process (GO:0006744)3.77547028
32quinone biosynthetic process (GO:1901663)3.77547028
33regulation of acyl-CoA biosynthetic process (GO:0050812)3.77230595
34fatty acid transmembrane transport (GO:1902001)3.69498459
35energy coupled proton transport, down electrochemical gradient (GO:0015985)3.66223678
36ATP synthesis coupled proton transport (GO:0015986)3.66223678
37creatine metabolic process (GO:0006600)3.56766799
38regulation of cofactor metabolic process (GO:0051193)3.56682962
39regulation of coenzyme metabolic process (GO:0051196)3.56682962
40positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.56158563
41mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.55083648
42galactose catabolic process (GO:0019388)3.53620319
43ribosomal small subunit biogenesis (GO:0042274)3.51275941
44IMP biosynthetic process (GO:0006188)3.47897281
45respiratory electron transport chain (GO:0022904)3.44927100
46intestinal epithelial cell development (GO:0060576)3.41470244
47translational termination (GO:0006415)3.40075556
48ribosome assembly (GO:0042255)3.38997424
49striated muscle contraction (GO:0006941)3.38116009
50myofibril assembly (GO:0030239)3.35336976
51viral transcription (GO:0019083)3.35117576
52electron transport chain (GO:0022900)3.33760398
53carnitine transmembrane transport (GO:1902603)3.31534814
54negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.30639873
55positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.28604708
56AMP metabolic process (GO:0046033)3.28401590
57skeletal muscle fiber development (GO:0048741)3.27084920
58translational initiation (GO:0006413)3.20125438
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.19252277
60ubiquinone metabolic process (GO:0006743)3.17921677
61regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.14632263
62translational elongation (GO:0006414)3.12868761
63proteasome assembly (GO:0043248)3.12241886
64amino-acid betaine transport (GO:0015838)3.08000894
65carnitine transport (GO:0015879)3.08000894
66positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.07631304
67nucleobase-containing small molecule interconversion (GO:0015949)3.07001794
68ribonucleoprotein complex biogenesis (GO:0022613)3.06455727
69labyrinthine layer development (GO:0060711)3.05884811
70regulation of cellular amino acid metabolic process (GO:0006521)3.00820424
71negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.96922073
72negative regulation of ligase activity (GO:0051352)2.96922073
73glycogen catabolic process (GO:0005980)2.96701634
74rRNA modification (GO:0000154)2.96184375
75regulation of sulfur metabolic process (GO:0042762)2.92665287
76negative regulation of potassium ion transmembrane transport (GO:1901380)2.87316818
77regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.86188898
78positive regulation of ligase activity (GO:0051351)2.85487473
79actomyosin structure organization (GO:0031032)2.82302659
80mitotic metaphase plate congression (GO:0007080)2.80074769
81nucleoside diphosphate biosynthetic process (GO:0009133)2.79325173
82fructose metabolic process (GO:0006000)2.79169063
83glucan catabolic process (GO:0009251)2.77410028
84purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.76510509
85purine nucleoside monophosphate biosynthetic process (GO:0009127)2.76510509
86cardiac muscle cell development (GO:0055013)2.73586361
87translation (GO:0006412)2.73381985
88regulation of ubiquitin-protein transferase activity (GO:0051438)2.73177113
89muscle contraction (GO:0006936)2.72406852
902-oxoglutarate metabolic process (GO:0006103)2.71965150
91signal transduction involved in DNA integrity checkpoint (GO:0072401)2.71580033
92signal transduction involved in DNA damage checkpoint (GO:0072422)2.71580033
93DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.71250763
94DNA replication checkpoint (GO:0000076)2.69705074
95signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.68605179
96signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.68605179
97signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.68605179
98glycogen biosynthetic process (GO:0005978)2.67567800
99glucan biosynthetic process (GO:0009250)2.67567800
100signal transduction involved in cell cycle checkpoint (GO:0072395)2.65227686

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYC_18555785_ChIP-Seq_MESCs_Mouse4.32742064
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.00649903
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.80665078
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.48984411
5E2F7_22180533_ChIP-Seq_HELA_Human3.46243379
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.18543554
7ZNF263_19887448_ChIP-Seq_K562_Human3.16146763
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.15751033
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.95623345
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.91193072
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.82532225
12FOXM1_23109430_ChIP-Seq_U2OS_Human2.82387688
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.78035709
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.68037935
15MYC_19030024_ChIP-ChIP_MESCs_Mouse2.65122794
16EST1_17652178_ChIP-ChIP_JURKAT_Human2.59873453
17AR_21909140_ChIP-Seq_LNCAP_Human2.41102450
18TP63_17297297_ChIP-ChIP_HaCaT_Human2.26800833
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.13934836
20NELFA_20434984_ChIP-Seq_ESCs_Mouse2.13096889
21ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.04091125
22XRN2_22483619_ChIP-Seq_HELA_Human1.99800847
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.97823965
24E2F1_18555785_ChIP-Seq_MESCs_Mouse1.97423201
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.97141263
26VDR_23849224_ChIP-Seq_CD4+_Human1.94446090
27DCP1A_22483619_ChIP-Seq_HELA_Human1.84948031
28STAT3_1855785_ChIP-Seq_MESCs_Mouse1.84926287
29E2F4_17652178_ChIP-ChIP_JURKAT_Human1.83446401
30HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.78687603
31BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.72707574
32GABP_19822575_ChIP-Seq_HepG2_Human1.67956798
33NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67499457
34MYCN_18555785_ChIP-Seq_MESCs_Mouse1.66214744
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.62773535
36ZFX_18555785_ChIP-Seq_MESCs_Mouse1.60526338
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.56876101
38KLF4_18555785_ChIP-Seq_MESCs_Mouse1.54009991
39CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52863639
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52462672
41ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.52420334
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.52415443
43CIITA_25753668_ChIP-Seq_RAJI_Human1.52227822
44TTF2_22483619_ChIP-Seq_HELA_Human1.51264898
45SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.47101655
46MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.44787739
47POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.42967743
48FOXP3_21729870_ChIP-Seq_TREG_Human1.42160105
49KDM5A_27292631_Chip-Seq_BREAST_Human1.41055492
50NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.33673795
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.33457279
52PPARA_22158963_ChIP-Seq_LIVER_Mouse1.29573156
53YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27305409
54NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.26743142
55SRF_21415370_ChIP-Seq_HL-1_Mouse1.26695639
56POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.25588630
57E2F1_21310950_ChIP-Seq_MCF-7_Human1.25498143
58ATF3_27146783_Chip-Seq_COLON_Human1.22829819
59FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.22040875
60DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.21566519
61NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.20444433
62SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.14336238
63TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.12404394
64KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.11835614
65MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.09428636
66ELK1_19687146_ChIP-ChIP_HELA_Human1.07386592
67HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05778155
68TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04930320
69PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.04336124
70OCT4_18692474_ChIP-Seq_MEFs_Mouse1.03847319
71TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.03210033
72TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.02101865
73ELF1_17652178_ChIP-ChIP_JURKAT_Human1.01759773
74TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01552999
75RBPJ_22232070_ChIP-Seq_NCS_Mouse1.00934375
76TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.99007028
77YY1_22570637_ChIP-Seq_MALME-3M_Human0.98818079
78ELK1_22589737_ChIP-Seq_MCF10A_Human0.98745307
79CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.98090839
80CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.97705622
81ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97661054
82NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96411434
83NANOG_21062744_ChIP-ChIP_HESCs_Human0.96106169
84CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95048144
85E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94284317
86SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94052775
87GATA4_21415370_ChIP-Seq_HL-1_Mouse0.92379851
88KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.92348785
89EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.86873341
90NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.86869217
91RXR_22158963_ChIP-Seq_LIVER_Mouse0.86688743
92RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86634648
93SRY_22984422_ChIP-ChIP_TESTIS_Rat0.86504568
94RACK7_27058665_Chip-Seq_MCF-7_Human0.86121993
95CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85873979
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.85848188
97SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84647615
98HOXB4_20404135_ChIP-ChIP_EML_Mouse0.84337646
99CHD1_26751641_Chip-Seq_LNCaP_Human0.84252390
100CLOCK_20551151_ChIP-Seq_293T_Human0.83184091

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.44389988
2MP0004145_abnormal_muscle_electrophysio4.65555707
3MP0000751_myopathy4.58310836
4MP0000749_muscle_degeneration4.16034836
5MP0004036_abnormal_muscle_relaxation3.21852564
6MP0003693_abnormal_embryo_hatching3.10897608
7MP0000747_muscle_weakness3.07492587
8MP0002106_abnormal_muscle_physiology3.02561327
9MP0004087_abnormal_muscle_fiber2.82730781
10MP0002269_muscular_atrophy2.77504372
11MP0004185_abnormal_adipocyte_glucose2.72491680
12MP0002837_dystrophic_cardiac_calcinosis2.67508336
13MP0004084_abnormal_cardiac_muscle2.58604749
14MP0004130_abnormal_muscle_cell2.56893850
15MP0000750_abnormal_muscle_regeneration2.55842458
16MP0005330_cardiomyopathy2.48958725
17MP0000759_abnormal_skeletal_muscle2.46274719
18MP0006036_abnormal_mitochondrial_physio2.46081868
19MP0005369_muscle_phenotype2.41912341
20MP0004957_abnormal_blastocyst_morpholog2.31742842
21MP0005620_abnormal_muscle_contractility2.29421226
22MP0003111_abnormal_nucleus_morphology2.11155978
23MP0009840_abnormal_foam_cell1.99306363
24MP0004215_abnormal_myocardial_fiber1.92269890
25MP0003806_abnormal_nucleotide_metabolis1.87222147
26MP0005666_abnormal_adipose_tissue1.85498124
27MP0003567_abnormal_fetal_cardiomyocyte1.81477639
28MP0003221_abnormal_cardiomyocyte_apopto1.73813844
29MP0005451_abnormal_body_composition1.66896477
30MP0004233_abnormal_muscle_weight1.64698320
31MP0000733_abnormal_muscle_development1.61137631
32MP0004484_altered_response_of1.57020579
33MP0006035_abnormal_mitochondrial_morpho1.54763406
34MP0010352_gastrointestinal_tract_polyps1.45720076
35MP0003123_paternal_imprinting1.45706591
36MP0010630_abnormal_cardiac_muscle1.44627843
37MP0001730_embryonic_growth_arrest1.44227595
38MP0003283_abnormal_digestive_organ1.42973523
39MP0001544_abnormal_cardiovascular_syste1.39712729
40MP0005385_cardiovascular_system_phenoty1.39712729
41MP0003077_abnormal_cell_cycle1.31684363
42MP0009379_abnormal_foot_pigmentation1.30925178
43MP0010094_abnormal_chromosome_stability1.29342996
44MP0002332_abnormal_exercise_endurance1.20923681
45MP0002972_abnormal_cardiac_muscle1.19717373
46MP0003941_abnormal_skin_development1.19090953
47MP0002234_abnormal_pharynx_morphology1.14941391
48MP0002971_abnormal_brown_adipose1.09250357
49MP0004134_abnormal_chest_morphology1.08344900
50MP0003950_abnormal_plasma_membrane1.07585368
51MP0003705_abnormal_hypodermis_morpholog1.06954896
52MP0002108_abnormal_muscle_morphology1.06842926
53MP0008775_abnormal_heart_ventricle1.04744199
54MP0005266_abnormal_metabolism1.01536796
55MP0005375_adipose_tissue_phenotype0.99638541
56MP0003137_abnormal_impulse_conducting0.95451188
57MP0000566_synostosis0.94219675
58MP0005332_abnormal_amino_acid0.92619522
59MP0003828_pulmonary_edema0.89591526
60MP0008058_abnormal_DNA_repair0.84201361
61MP0004019_abnormal_vitamin_homeostasis0.83713318
62MP0006138_congestive_heart_failure0.81154511
63MP0002088_abnormal_embryonic_growth/wei0.77880457
64MP0003718_maternal_effect0.77634470
65MP0003984_embryonic_growth_retardation0.75745508
66MP0000350_abnormal_cell_proliferation0.75559769
67MP0000762_abnormal_tongue_morphology0.75000782
68MP0003186_abnormal_redox_activity0.74721329
69MP0005085_abnormal_gallbladder_physiolo0.74198958
70MP0008932_abnormal_embryonic_tissue0.73100672
71MP0001672_abnormal_embryogenesis/_devel0.73052366
72MP0005380_embryogenesis_phenotype0.73052366
73MP0004197_abnormal_fetal_growth/weight/0.72087522
74MP0001764_abnormal_homeostasis0.72018861
75MP0001697_abnormal_embryo_size0.71224093
76MP0002080_prenatal_lethality0.68318144
77MP0001853_heart_inflammation0.66915373
78MP0009672_abnormal_birth_weight0.66457511
79MP0005319_abnormal_enzyme/_coenzyme0.66065439
80MP0010329_abnormal_lipoprotein_level0.65078402
81MP0000013_abnormal_adipose_tissue0.64967569
82MP0000537_abnormal_urethra_morphology0.63452362
83MP0002086_abnormal_extraembryonic_tissu0.62657957
84MP0000266_abnormal_heart_morphology0.62218204
85MP0002127_abnormal_cardiovascular_syste0.61756603
86MP0003119_abnormal_digestive_system0.60565786
87MP0004147_increased_porphyrin_level0.59222120
88MP0008007_abnormal_cellular_replicative0.57610766
89MP0002796_impaired_skin_barrier0.57098307
90MP0003315_abnormal_perineum_morphology0.55198250
91MP0003786_premature_aging0.55060468
92MP0001756_abnormal_urination0.54038506
93MP0003656_abnormal_erythrocyte_physiolo0.52782121
94MP0008877_abnormal_DNA_methylation0.52298750
95MP0002210_abnormal_sex_determination0.50755593
96MP0000358_abnormal_cell_content/0.50621049
97MP0002085_abnormal_embryonic_tissue0.49011193
98MP0001299_abnormal_eye_distance/0.48157714
99MP0002009_preneoplasia0.48025720
100MP0000462_abnormal_digestive_system0.47204427

Predicted human phenotypes

RankGene SetZ-score
1* Muscle fiber inclusion bodies (HP:0100299)7.90525981
2* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.42604870
3* Nemaline bodies (HP:0003798)7.10473636
4Exercise-induced myalgia (HP:0003738)6.98396670
5Exercise-induced muscle cramps (HP:0003710)6.09148890
6Type 1 muscle fiber predominance (HP:0003803)5.57064376
7Myopathic facies (HP:0002058)5.53895753
8Muscle hypertrophy of the lower extremities (HP:0008968)5.35200011
9Calf muscle hypertrophy (HP:0008981)4.94605749
10Myoglobinuria (HP:0002913)4.72590608
11Distal arthrogryposis (HP:0005684)4.66443377
12Muscle fiber splitting (HP:0003555)4.54681602
13Ulnar deviation of the wrist (HP:0003049)4.53467605
14Rhabdomyolysis (HP:0003201)4.34025023
15Calcaneovalgus deformity (HP:0001848)3.91760517
16* Difficulty running (HP:0009046)3.75584145
17Deformed tarsal bones (HP:0008119)3.60156388
18* Muscle stiffness (HP:0003552)3.53173212
19Absent phalangeal crease (HP:0006109)3.46135238
20Hyporeflexia of lower limbs (HP:0002600)3.45843124
21Round ear (HP:0100830)3.37748750
22Areflexia of lower limbs (HP:0002522)3.34445663
23EMG: myopathic abnormalities (HP:0003458)3.31171723
24Abnormality of the calf musculature (HP:0001430)3.28085159
25Increased connective tissue (HP:0009025)3.25513638
26Hepatic necrosis (HP:0002605)3.13966133
27Rimmed vacuoles (HP:0003805)3.12645580
28* Neck muscle weakness (HP:0000467)3.12342090
29Myotonia (HP:0002486)2.99823329
30Increased muscle lipid content (HP:0009058)2.92543111
31Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.90161217
32Abnormality of alanine metabolism (HP:0010916)2.90161217
33Hyperalaninemia (HP:0003348)2.90161217
34Progressive muscle weakness (HP:0003323)2.83856836
35Abnormal finger flexion creases (HP:0006143)2.82095209
36Abnormality of skeletal muscle fiber size (HP:0012084)2.80379732
37Sudden death (HP:0001699)2.80232935
38Increased intramyocellular lipid droplets (HP:0012240)2.80205007
39Hepatocellular necrosis (HP:0001404)2.70909921
40Shoulder girdle muscle weakness (HP:0003547)2.66999463
41Abnormality of the calcaneus (HP:0008364)2.61618116
42Pelvic girdle muscle weakness (HP:0003749)2.59421068
43Abnormality of dicarboxylic acid metabolism (HP:0010995)2.56605171
44Dicarboxylic aciduria (HP:0003215)2.56605171
45Malignant hyperthermia (HP:0002047)2.47961186
46Lipid accumulation in hepatocytes (HP:0006561)2.47665235
47Subaortic stenosis (HP:0001682)2.44072088
48Abnormality of the left ventricular outflow tract (HP:0011103)2.44072088
49* Difficulty climbing stairs (HP:0003551)2.43587189
50Increased variability in muscle fiber diameter (HP:0003557)2.41651338
51Abnormality of the musculature of the pelvis (HP:0001469)2.41572002
52Abnormality of the hip-girdle musculature (HP:0001445)2.41572002
53Ventricular fibrillation (HP:0001663)2.40836910
54Increased hepatocellular lipid droplets (HP:0006565)2.34692510
55Colon cancer (HP:0003003)2.34129815
56Exercise intolerance (HP:0003546)2.27212772
57Paralysis (HP:0003470)2.18410853
58Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.14055951
59Decreased activity of mitochondrial respiratory chain (HP:0008972)2.14055951
60Trismus (HP:0000211)2.13164395
61Carpal bone hypoplasia (HP:0001498)2.11381274
62Ventricular tachycardia (HP:0004756)2.09677090
63Facial diplegia (HP:0001349)2.06984308
64Increased CSF lactate (HP:0002490)2.05211039
65Proximal tubulopathy (HP:0000114)2.03840579
66Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.03246885
67Mitochondrial inheritance (HP:0001427)2.02811368
68Abnormality of glycolysis (HP:0004366)2.01207057
69Increased serum pyruvate (HP:0003542)2.01207057
70Abnormality of fatty-acid metabolism (HP:0004359)1.98369945
71Hypoglycemic coma (HP:0001325)1.98141621
72Palpitations (HP:0001962)1.96564215
73Bundle branch block (HP:0011710)1.95937745
74Achilles tendon contracture (HP:0001771)1.95346937
75Asymmetric septal hypertrophy (HP:0001670)1.94797016
76Hyperglycinuria (HP:0003108)1.94568879
77Distal lower limb muscle weakness (HP:0009053)1.94402784
78Lactic acidosis (HP:0003128)1.93659175
79Lipoatrophy (HP:0100578)1.90449829
80Hypoplastic ischia (HP:0003175)1.90437237
81Slender build (HP:0001533)1.89465300
82Abnormal mitochondria in muscle tissue (HP:0008316)1.89392775
83Increased serum lactate (HP:0002151)1.89060165
84Hip contracture (HP:0003273)1.88557878
85Acute necrotizing encephalopathy (HP:0006965)1.87580291
86Double outlet right ventricle (HP:0001719)1.86580964
87Congenital malformation of the right heart (HP:0011723)1.86580964
88Ventricular arrhythmia (HP:0004308)1.86125002
89Right ventricular cardiomyopathy (HP:0011663)1.85460548
90Reticulocytopenia (HP:0001896)1.82923549
91Hypoalphalipoproteinemia (HP:0003233)1.81838105
92Limb-girdle muscle weakness (HP:0003325)1.81618424
93Abnormality of the Achilles tendon (HP:0005109)1.80673026
94Gout (HP:0001997)1.79739407
95Generalized aminoaciduria (HP:0002909)1.78020353
96Abnormality of glycine metabolism (HP:0010895)1.77518828
97Abnormality of serine family amino acid metabolism (HP:0010894)1.77518828
98Cerebral edema (HP:0002181)1.76979341
99Abnormality of cells of the erythroid lineage (HP:0012130)1.76629663
100Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.74409883

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.50860564
2NME14.82539849
3TTN3.78729652
4BUB13.61758432
5WEE13.51870788
6NEK12.91455715
7EPHA22.87175818
8PHKG12.84250732
9PHKG22.84250732
10CDK122.64080008
11BCKDK2.51858075
12PDK42.38005344
13PDK32.38005344
14MAP2K32.24028387
15ZAK2.03457187
16MAP3K32.03360242
17PIK3CG1.90250680
18PNCK1.83979691
19NME21.81911540
20NEK21.60648398
21PDK21.45127609
22PKN21.43516379
23BRSK21.41118097
24TTK1.40378394
25TRIB31.38036650
26RPS6KB21.26132250
27IRAK31.24025745
28PLK41.22344710
29STK241.15928688
30EIF2AK11.09818482
31MAP2K61.08459915
32MST1R1.08259345
33MAP3K110.99381531
34DYRK30.98299135
35STK38L0.98057036
36MAP3K70.93533328
37STK160.81039267
38CDC70.79212083
39DMPK0.77760322
40CDK70.77032826
41PLK10.76060828
42ILK0.75842576
43RPS6KA40.74978079
44PRKCI0.72942554
45AURKA0.72643328
46CCNB10.70882609
47PINK10.70739179
48AURKB0.70484422
49SRPK10.69257144
50CDK80.69175017
51MARK10.67906367
52BRSK10.67481822
53SCYL20.67046952
54PIK3CA0.65605912
55TESK20.65401683
56TAOK10.65064459
57MAP3K100.63456204
58MAPK120.63190716
59ABL20.61530579
60MAPK110.61205167
61KDR0.56207475
62CAMK2G0.55295094
63MAP2K40.55285308
64MARK30.54359678
65CDK40.53118850
66MAP2K20.51097651
67TSSK60.49761530
68NEK90.48658699
69LATS20.43442240
70KSR10.42867552
71MAP3K50.42835578
72MAP3K80.41667327
73CHEK20.41575612
74FLT30.38909410
75PAK40.37950240
76MELK0.37062898
77MYLK0.36259342
78MAPKAPK30.33639317
79AKT20.32852675
80TAOK20.31145592
81PRKAA10.30019205
82CAMK2D0.29792311
83PAK10.28798831
84PLK30.27238485
85CAMK10.26953809
86CSNK1E0.25272644
87CSNK2A20.24945889
88BRAF0.24937678
89LIMK10.24755734
90ATR0.24697930
91MAPK40.24196883
92TLK10.22473642
93EIF2AK30.22378820
94CHEK10.21873444
95PRKAA20.21871960
96PBK0.21066973
97EEF2K0.20888530
98CSNK2A10.18412367
99CDK20.15981140
100MET0.14203104

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.39936254
2Proteasome_Homo sapiens_hsa030503.91183492
3Ribosome_Homo sapiens_hsa030103.21328569
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.03779495
5Carbon metabolism_Homo sapiens_hsa012002.62696067
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.51428102
7Parkinsons disease_Homo sapiens_hsa050122.44749111
8Propanoate metabolism_Homo sapiens_hsa006402.36033893
9Oxidative phosphorylation_Homo sapiens_hsa001902.34902685
10Cardiac muscle contraction_Homo sapiens_hsa042602.25269753
11DNA replication_Homo sapiens_hsa030302.17602925
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.14150444
13Mismatch repair_Homo sapiens_hsa034302.13668933
14RNA polymerase_Homo sapiens_hsa030202.02575907
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.90563330
16Fatty acid degradation_Homo sapiens_hsa000711.85024133
17RNA transport_Homo sapiens_hsa030131.84026395
18Biosynthesis of amino acids_Homo sapiens_hsa012301.81246462
19Pentose phosphate pathway_Homo sapiens_hsa000301.79744876
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.77835086
21Huntingtons disease_Homo sapiens_hsa050161.74074015
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70952526
23Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.67644132
24Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.62926177
25Alzheimers disease_Homo sapiens_hsa050101.59507795
26Fructose and mannose metabolism_Homo sapiens_hsa000511.58276784
27Galactose metabolism_Homo sapiens_hsa000521.58246056
28Base excision repair_Homo sapiens_hsa034101.47643608
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.43463259
30Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.42171408
31Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.41824345
32Pyrimidine metabolism_Homo sapiens_hsa002401.40466399
33Glutathione metabolism_Homo sapiens_hsa004801.39239304
34Pyruvate metabolism_Homo sapiens_hsa006201.23956852
35Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.23956386
36Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.21694292
37Spliceosome_Homo sapiens_hsa030401.19012532
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18541929
39Dilated cardiomyopathy_Homo sapiens_hsa054141.17485236
40Arginine and proline metabolism_Homo sapiens_hsa003301.15420953
41Starch and sucrose metabolism_Homo sapiens_hsa005001.15160049
42Fatty acid metabolism_Homo sapiens_hsa012121.14602956
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.09773122
44Nucleotide excision repair_Homo sapiens_hsa034201.09286310
45Tight junction_Homo sapiens_hsa045301.07229332
46beta-Alanine metabolism_Homo sapiens_hsa004101.06029140
47Purine metabolism_Homo sapiens_hsa002301.04095927
48Cell cycle_Homo sapiens_hsa041101.01145283
49One carbon pool by folate_Homo sapiens_hsa006700.96916698
50Regulation of autophagy_Homo sapiens_hsa041400.94195495
51Homologous recombination_Homo sapiens_hsa034400.83376085
52Pentose and glucuronate interconversions_Homo sapiens_hsa000400.82014329
53Folate biosynthesis_Homo sapiens_hsa007900.80877437
54Insulin signaling pathway_Homo sapiens_hsa049100.78245174
55Glucagon signaling pathway_Homo sapiens_hsa049220.76229036
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74568842
57AMPK signaling pathway_Homo sapiens_hsa041520.74132722
58Metabolic pathways_Homo sapiens_hsa011000.70807008
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.68602252
60Fatty acid elongation_Homo sapiens_hsa000620.68174727
61RNA degradation_Homo sapiens_hsa030180.66925409
62Butanoate metabolism_Homo sapiens_hsa006500.64431077
63Vitamin B6 metabolism_Homo sapiens_hsa007500.62275178
64Insulin resistance_Homo sapiens_hsa049310.62188271
65Oocyte meiosis_Homo sapiens_hsa041140.60520043
66Sulfur relay system_Homo sapiens_hsa041220.59998868
67Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59337489
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58498824
69Basal transcription factors_Homo sapiens_hsa030220.57174850
70PPAR signaling pathway_Homo sapiens_hsa033200.57045157
71Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.55299366
72Fat digestion and absorption_Homo sapiens_hsa049750.53016066
73Drug metabolism - other enzymes_Homo sapiens_hsa009830.53000699
74Selenocompound metabolism_Homo sapiens_hsa004500.49814659
75Arginine biosynthesis_Homo sapiens_hsa002200.48585815
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.47760182
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47307011
78Peroxisome_Homo sapiens_hsa041460.45734763
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.44473815
80mRNA surveillance pathway_Homo sapiens_hsa030150.43349569
81HIF-1 signaling pathway_Homo sapiens_hsa040660.43324255
82Arachidonic acid metabolism_Homo sapiens_hsa005900.42039120
83Central carbon metabolism in cancer_Homo sapiens_hsa052300.40291167
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40268431
85Epstein-Barr virus infection_Homo sapiens_hsa051690.37446322
86Fanconi anemia pathway_Homo sapiens_hsa034600.34975402
87Circadian rhythm_Homo sapiens_hsa047100.34696502
88p53 signaling pathway_Homo sapiens_hsa041150.34546303
89Glycerolipid metabolism_Homo sapiens_hsa005610.32432397
90Non-homologous end-joining_Homo sapiens_hsa034500.30091065
91Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.27561482
92Vitamin digestion and absorption_Homo sapiens_hsa049770.22885109
93Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.22432612
94Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.21950064
95Oxytocin signaling pathway_Homo sapiens_hsa049210.21562787
96Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21240234
97Nitrogen metabolism_Homo sapiens_hsa009100.19223636
98Viral myocarditis_Homo sapiens_hsa054160.19114437
99FoxO signaling pathway_Homo sapiens_hsa040680.18499885
100Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.18414366

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