HMGCS2

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 protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.38693794
2L-phenylalanine catabolic process (GO:0006559)7.38693794
3epoxygenase P450 pathway (GO:0019373)7.37324490
4exogenous drug catabolic process (GO:0042738)7.32343606
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.06385849
6L-phenylalanine metabolic process (GO:0006558)7.06385849
7aromatic amino acid family catabolic process (GO:0009074)6.59839575
8positive regulation of heterotypic cell-cell adhesion (GO:0034116)6.50600401
9omega-hydroxylase P450 pathway (GO:0097267)6.48195658
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.38891237
11indole-containing compound catabolic process (GO:0042436)5.90039222
12indolalkylamine catabolic process (GO:0046218)5.90039222
13tryptophan catabolic process (GO:0006569)5.90039222
14kynurenine metabolic process (GO:0070189)5.82195524
15bile acid biosynthetic process (GO:0006699)5.77998379
16sulfur amino acid catabolic process (GO:0000098)5.70191227
17alpha-linolenic acid metabolic process (GO:0036109)5.68688474
18glyoxylate metabolic process (GO:0046487)5.67595015
19tryptophan metabolic process (GO:0006568)5.57104725
20high-density lipoprotein particle remodeling (GO:0034375)5.55982276
21urea metabolic process (GO:0019627)5.46756943
22urea cycle (GO:0000050)5.46756943
23negative regulation of fibrinolysis (GO:0051918)5.46397901
24cysteine metabolic process (GO:0006534)5.33993648
25regulation of fibrinolysis (GO:0051917)5.24833833
26protein carboxylation (GO:0018214)5.18153961
27peptidyl-glutamic acid carboxylation (GO:0017187)5.18153961
28serine family amino acid catabolic process (GO:0009071)5.04289842
29bile acid metabolic process (GO:0008206)5.04263651
30nitrogen cycle metabolic process (GO:0071941)5.03573910
31regulation of protein activation cascade (GO:2000257)5.03561543
32complement activation, alternative pathway (GO:0006957)5.03067292
33phenylpropanoid metabolic process (GO:0009698)4.96091643
34ethanol metabolic process (GO:0006067)4.91702839
35reverse cholesterol transport (GO:0043691)4.91091208
36regulation of cholesterol esterification (GO:0010872)4.87976298
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.87399331
38regulation of triglyceride catabolic process (GO:0010896)4.82770486
39aromatic amino acid family metabolic process (GO:0009072)4.79577512
40homocysteine metabolic process (GO:0050667)4.78289226
41protein-lipid complex remodeling (GO:0034368)4.76565508
42macromolecular complex remodeling (GO:0034367)4.76565508
43plasma lipoprotein particle remodeling (GO:0034369)4.76565508
44negative regulation of sterol transport (GO:0032372)4.71086793
45negative regulation of cholesterol transport (GO:0032375)4.71086793
46oxidative demethylation (GO:0070989)4.69203344
47regulation of complement activation (GO:0030449)4.68017411
48tyrosine metabolic process (GO:0006570)4.67359294
49amino-acid betaine metabolic process (GO:0006577)4.66771276
50phospholipid efflux (GO:0033700)4.65913305
51triglyceride homeostasis (GO:0070328)4.64601653
52acylglycerol homeostasis (GO:0055090)4.64601653
53bile acid and bile salt transport (GO:0015721)4.58838267
54cellular glucuronidation (GO:0052695)4.55498803
55alpha-amino acid catabolic process (GO:1901606)4.55273695
56lysine catabolic process (GO:0006554)4.51583180
57lysine metabolic process (GO:0006553)4.51583180
58regulation of plasminogen activation (GO:0010755)4.51442721
59negative regulation of hemostasis (GO:1900047)4.35123222
60negative regulation of blood coagulation (GO:0030195)4.35123222
61plasma lipoprotein particle clearance (GO:0034381)4.34936821
62* cellular ketone body metabolic process (GO:0046950)4.33115617
63glycine metabolic process (GO:0006544)4.26204634
64flavonoid metabolic process (GO:0009812)4.25730594
65cellular amino acid catabolic process (GO:0009063)4.25001862
66ethanol oxidation (GO:0006069)4.23033791
67regulation of heterotypic cell-cell adhesion (GO:0034114)4.19349249
68indolalkylamine metabolic process (GO:0006586)4.18753260
69imidazole-containing compound metabolic process (GO:0052803)4.17601970
70cholesterol efflux (GO:0033344)4.16793946
71coenzyme catabolic process (GO:0009109)4.16739873
72glutamate metabolic process (GO:0006536)4.12561113
73cellular biogenic amine catabolic process (GO:0042402)4.09220263
74amine catabolic process (GO:0009310)4.09220263
75benzene-containing compound metabolic process (GO:0042537)4.07980413
76serine family amino acid metabolic process (GO:0009069)4.06668023
77uronic acid metabolic process (GO:0006063)4.05878970
78glucuronate metabolic process (GO:0019585)4.05878970
79aldehyde catabolic process (GO:0046185)4.05328572
80plasma lipoprotein particle assembly (GO:0034377)4.03972234
81intestinal cholesterol absorption (GO:0030299)4.01900231
82negative regulation of protein activation cascade (GO:2000258)4.00906360
83low-density lipoprotein particle remodeling (GO:0034374)4.00470510
84negative regulation of coagulation (GO:0050819)3.99270508
85heme transport (GO:0015886)3.99028373
86cellular modified amino acid catabolic process (GO:0042219)3.95237430
87protein-lipid complex subunit organization (GO:0071825)3.94963653
88drug catabolic process (GO:0042737)3.92733792
89serine family amino acid biosynthetic process (GO:0009070)3.92517827
90arginine metabolic process (GO:0006525)3.91237574
91negative regulation of wound healing (GO:0061045)3.88858021
92dicarboxylic acid biosynthetic process (GO:0043650)3.88252008
93fibrinolysis (GO:0042730)3.87482710
94short-chain fatty acid metabolic process (GO:0046459)3.80917579
95phospholipid homeostasis (GO:0055091)3.79022297
96positive regulation of triglyceride lipase activity (GO:0061365)3.78265165
97positive regulation of lipoprotein lipase activity (GO:0051006)3.78265165
98cholesterol homeostasis (GO:0042632)3.77669738
99organic acid catabolic process (GO:0016054)3.77569569
100carboxylic acid catabolic process (GO:0046395)3.77569569
101regulation of bile acid biosynthetic process (GO:0070857)3.77173433
102S-adenosylmethionine metabolic process (GO:0046500)3.77101010
103very-low-density lipoprotein particle assembly (GO:0034379)3.76283255
104positive regulation of lipid catabolic process (GO:0050996)3.75733993
105blood coagulation, intrinsic pathway (GO:0007597)3.74789657
106regulation of humoral immune response (GO:0002920)3.74256083
107sterol homeostasis (GO:0055092)3.71455562
108negative regulation of lipase activity (GO:0060192)3.70931733
109alkaloid metabolic process (GO:0009820)3.70518981
110complement activation (GO:0006956)3.69694514
111regulation of cholesterol homeostasis (GO:2000188)3.68566426
112response to nitrosative stress (GO:0051409)3.67228772
113* ketone body metabolic process (GO:1902224)3.67132218
114plasma lipoprotein particle organization (GO:0071827)3.64622015
115cofactor catabolic process (GO:0051187)3.63955277
116acute-phase response (GO:0006953)3.62171844
117protein-lipid complex assembly (GO:0065005)3.61266473
118protein activation cascade (GO:0072376)3.57708083
119monocarboxylic acid catabolic process (GO:0072329)3.54859418
120complement activation, classical pathway (GO:0006958)3.54375470
121acetyl-CoA metabolic process (GO:0006084)3.54087729
122drug metabolic process (GO:0017144)3.53926582
123regulation of cholesterol transport (GO:0032374)3.50764095
124regulation of sterol transport (GO:0032371)3.50764095
125lipoprotein metabolic process (GO:0042157)3.47647032
126regulation of lipoprotein particle clearance (GO:0010984)3.40078645
127regulation of cytokine secretion involved in immune response (GO:0002739)3.36766352
128sterol transport (GO:0015918)3.36521320
129cholesterol transport (GO:0030301)3.36521320
130xenobiotic metabolic process (GO:0006805)3.32184030
131negative regulation of lipid transport (GO:0032369)3.30280976
132positive regulation of hemostasis (GO:1900048)3.28733849
133positive regulation of blood coagulation (GO:0030194)3.28733849

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.30368963
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.13098593
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.77199821
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.41722744
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.20489542
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.16873669
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.99115229
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.86378149
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.76844101
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.14288595
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07267512
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.04804290
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.7645139
14CLOCK_20551151_ChIP-Seq_293T_Human1.58662357
15* FOXA2_19822575_ChIP-Seq_HepG2_Human1.55057053
16HTT_18923047_ChIP-ChIP_STHdh_Human1.55047394
17* HNF4A_19822575_ChIP-Seq_HepG2_Human1.39416979
18STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.29672932
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29116381
20STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.29077062
21GATA1_22025678_ChIP-Seq_K562_Human1.20582970
22* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.19244395
23ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.16533956
24* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.15040759
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.09896320
26ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09643229
27CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09093740
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04825019
29ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03297748
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.02704898
31PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.02540709
32TCF4_18268006_ChIP-ChIP_LS174T_Human1.01699203
33GATA4_25053715_ChIP-Seq_YYC3_Human0.98115963
34CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97892557
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.97546866
36ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95989352
37RARG_19884340_ChIP-ChIP_MEFs_Mouse0.95345063
38ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.89519426
39PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86469886
40ZNF263_19887448_ChIP-Seq_K562_Human0.83194443
41CDX2_20551321_ChIP-Seq_CACO-2_Human0.82659350
42AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82311947
43CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.81889091
44* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81564123
45* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.80423215
46BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.79048866
47BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.78418976
48SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.78261438
49NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.78175053
50MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77097328
51KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76209797
52SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75731325
53* HNFA_21074721_ChIP-Seq_CACO-2_Human0.74621641
54RARA_24833708_ChIP-Seq_LIVER_Mouse0.73909870
55* PHF8_20622853_ChIP-Seq_HELA_Human0.72366945
56ESR2_21235772_ChIP-Seq_MCF-7_Human0.72148189
57* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.71629250
58CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70127703
59RAD21_21589869_ChIP-Seq_MESCs_Mouse0.67719341
60Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.67546941
61IRF8_22096565_ChIP-ChIP_GC-B_Human0.66558568
62SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66351618
63RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.65589344
64RARB_24833708_ChIP-Seq_LIVER_Mouse0.64637207
65TP53_16413492_ChIP-PET_HCT116_Human0.64355915
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63497918
67NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63497918
68* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.63272488
69JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.61555348
70PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.61063093
71EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.60949745
72NFYA_21822215_ChIP-Seq_K562_Human0.59707099
73TRIM28_21343339_ChIP-Seq_HEK293_Human0.59286972
74EGR1_19032775_ChIP-ChIP_M12_Human0.59254425
75SOX2_21211035_ChIP-Seq_LN229_Human0.59007649
76PIAS1_25552417_ChIP-Seq_VCAP_Human0.58904196
77NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.58802248
78LXR_22292898_ChIP-Seq_THP-1_Human0.58609622
79CEBPB_22108803_ChIP-Seq_LS180_Human0.58356153
80ETV2_25802403_ChIP-Seq_MESCs_Mouse0.57201917
81TCF4_22108803_ChIP-Seq_LS180_Human0.56306740
82NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.55815900
83* GATA6_21074721_ChIP-Seq_CACO-2_Human0.55689841
84* MYC_19915707_ChIP-ChIP_AK7_Human0.55124230
85EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.55119042
86CTCF_27219007_Chip-Seq_Bcells_Human0.54955126
87TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.54940805
88* GATA6_25053715_ChIP-Seq_YYC3_Human0.54375924
89* FOXA1_25552417_ChIP-Seq_VCAP_Human0.53221609
90PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.52210512
91MYC_19829295_ChIP-Seq_ESCs_Human0.51933834
92* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51775083
93NFE2_27457419_Chip-Seq_LIVER_Mouse0.51465059
94ZNF217_24962896_ChIP-Seq_MCF-7_Human0.51360984
95FOXO3_23340844_ChIP-Seq_DLD1_Human0.51272428
96KLF5_20875108_ChIP-Seq_MESCs_Mouse0.51138247
97STAT3_1855785_ChIP-Seq_MESCs_Mouse0.50862553
98SMAD1_18555785_Chip-Seq_ESCs_Mouse0.50291177
99ESET_19884257_ChIP-Seq_ESCs_Mouse0.50281781
100RAC3_21632823_ChIP-Seq_H3396_Human0.49945882
101P53_21459846_ChIP-Seq_SAOS-2_Human0.49809022
102FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.49744680
103PPAR_26484153_Chip-Seq_NCI-H1993_Human0.49722146
104FOXA1_21572438_ChIP-Seq_LNCaP_Human0.49374101
105AR_20517297_ChIP-Seq_VCAP_Human0.49346773
106SOX2_20726797_ChIP-Seq_SW620_Human0.49319923
107SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.48256999
108* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.47962601
109TAF2_19829295_ChIP-Seq_ESCs_Human0.47484820
110* PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.47275765
111ESR1_20079471_ChIP-ChIP_T-47D_Human0.47058326
112E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.46947100
113FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.46614911
114CBP_21632823_ChIP-Seq_H3396_Human0.46429436
115GATA1_19941826_ChIP-Seq_K562_Human0.46280147
116ESR1_21235772_ChIP-Seq_MCF-7_Human0.45970224
117STAT1_17558387_ChIP-Seq_HELA_Human0.45783397
118ERG_21242973_ChIP-ChIP_JURKAT_Human0.45637802
119GATA2_19941826_ChIP-Seq_K562_Human0.44671354
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.44370438
121PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.42839542
122GATA1_19941827_ChIP-Seq_MEL_Mouse0.41312110
123STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.40955421
124BCAT_22108803_ChIP-Seq_LS180_Human0.40511261
125MYC_27129775_Chip-Seq_CORNEA_Mouse0.40406157
126CDX2_22108803_ChIP-Seq_LS180_Human0.38674704
127LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.37480116
128SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.37379332
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.37356414
130SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.37305952
131SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.36728491
132* GATA3_24758297_ChIP-Seq_MCF-7_Human0.36676661
133FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.36006683
134CSB_26484114_Chip-Seq_FIBROBLAST_Human0.35378316

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.29012502
2MP0005360_urolithiasis7.35234704
3MP0005085_abnormal_gallbladder_physiolo6.37261866
4MP0005365_abnormal_bile_salt6.14867346
5MP0008875_abnormal_xenobiotic_pharmacok5.24165534
6MP0003806_abnormal_nucleotide_metabolis4.20913978
7MP0003252_abnormal_bile_duct3.89659273
8MP0010329_abnormal_lipoprotein_level3.57261538
9MP0009840_abnormal_foam_cell3.25495487
10MP0005083_abnormal_biliary_tract3.03874706
11MP0003195_calcinosis2.83009208
12MP0005332_abnormal_amino_acid2.72545405
13MP0001666_abnormal_nutrient_absorption2.66093314
14MP0003191_abnormal_cellular_cholesterol2.39848915
15MP0004019_abnormal_vitamin_homeostasis2.18896710
16MP0000609_abnormal_liver_physiology2.13503967
17MP0002118_abnormal_lipid_homeostasis2.09708198
18MP0002138_abnormal_hepatobiliary_system2.00364100
19MP0003868_abnormal_feces_composition1.93670039
20MP0001986_abnormal_taste_sensitivity1.83574775
21MP0005319_abnormal_enzyme/_coenzyme1.80915161
22MP0005451_abnormal_body_composition1.66875823
23MP0001764_abnormal_homeostasis1.59388111
24MP0005584_abnormal_enzyme/coenzyme_acti1.57074826
25MP0009697_abnormal_copulation1.45630595
26MP0003011_delayed_dark_adaptation1.35688236
27MP0009643_abnormal_urine_homeostasis1.33113638
28MP0003186_abnormal_redox_activity1.28562470
29MP0003705_abnormal_hypodermis_morpholog1.23878253
30MP0003656_abnormal_erythrocyte_physiolo1.19043686
31MP0005647_abnormal_sex_gland1.16590664
32MP0000598_abnormal_liver_morphology1.13974553
33MP0005636_abnormal_mineral_homeostasis1.03928157
34MP0000604_amyloidosis1.03776487
35MP0009764_decreased_sensitivity_to1.01201720
36MP0002822_catalepsy1.00599716
37MP0002254_reproductive_system_inflammat0.99705917
38MP0009763_increased_sensitivity_to0.96304223
39MP0003879_abnormal_hair_cell0.92896131
40MP0010368_abnormal_lymphatic_system0.89710005
41MP0009642_abnormal_blood_homeostasis0.86249715
42MP0008469_abnormal_protein_level0.84984568
43MP0006036_abnormal_mitochondrial_physio0.83815306
44MP0005084_abnormal_gallbladder_morpholo0.82423390
45MP0005376_homeostasis/metabolism_phenot0.79025798
46MP0005408_hypopigmentation0.78555717
47MP0005058_abnormal_lysosome_morphology0.78553690
48MP0005670_abnormal_white_adipose0.78399862
49MP0009765_abnormal_xenobiotic_induced0.76194341
50MP0002876_abnormal_thyroid_physiology0.75104268
51MP0004130_abnormal_muscle_cell0.74756386
52MP0002078_abnormal_glucose_homeostasis0.74725070
53MP0001756_abnormal_urination0.70807868
54MP0001661_extended_life_span0.70061696
55MP0002971_abnormal_brown_adipose0.69465857
56MP0000566_synostosis0.68874565
57MP0003690_abnormal_glial_cell0.68375201
58MP0005334_abnormal_fat_pad0.67630303
59MP0005266_abnormal_metabolism0.67366237
60MP0005220_abnormal_exocrine_pancreas0.65839764
61MP0009053_abnormal_anal_canal0.64468764
62MP0005023_abnormal_wound_healing0.63885683
63MP0005187_abnormal_penis_morphology0.63690501
64MP0005535_abnormal_body_temperature0.61879699
65MP0006035_abnormal_mitochondrial_morpho0.61201870
66MP0003329_amyloid_beta_deposits0.59781514
67MP0005448_abnormal_energy_balance0.57736380
68MP0000639_abnormal_adrenal_gland0.57057267
69MP0000467_abnormal_esophagus_morphology0.55882357
70MP0000516_abnormal_urinary_system0.53545647
71MP0005367_renal/urinary_system_phenotyp0.53545647
72MP0002136_abnormal_kidney_physiology0.50824697
73MP0008873_increased_physiological_sensi0.47994756
74MP0005167_abnormal_blood-brain_barrier0.47933067
75MP0003638_abnormal_response/metabolism_0.47195361
76MP0004782_abnormal_surfactant_physiolog0.47177356
77MP0005164_abnormal_response_to0.46990259
78MP0005395_other_phenotype0.45552935
79MP0005464_abnormal_platelet_physiology0.45342245
80MP0001915_intracranial_hemorrhage0.45042897
81MP0010386_abnormal_urinary_bladder0.44454192
82MP0002928_abnormal_bile_duct0.44296877
83MP0003075_altered_response_to0.43707405
84MP0003953_abnormal_hormone_level0.43311198
85MP0003724_increased_susceptibility_to0.42896776
86MP0002837_dystrophic_cardiac_calcinosis0.42393889
87MP0002796_impaired_skin_barrier0.41960421
88MP0008874_decreased_physiological_sensi0.41110475
89MP0005166_decreased_susceptibility_to0.41011139
90MP0003941_abnormal_skin_development0.40813034
91MP0008872_abnormal_physiological_respon0.40414442
92MP0003718_maternal_effect0.40240579
93MP0002249_abnormal_larynx_morphology0.40157099
94MP0005666_abnormal_adipose_tissue0.40126640
95MP0000230_abnormal_systemic_arterial0.39950367
96MP0005248_abnormal_Harderian_gland0.39926372
97MP0009384_cardiac_valve_regurgitation0.38756018
98MP0000477_abnormal_intestine_morphology0.36714828
99MP0001663_abnormal_digestive_system0.35295486
100MP0004264_abnormal_extraembryonic_tissu0.34856663
101MP0010234_abnormal_vibrissa_follicle0.34855710
102MP0003436_decreased_susceptibility_to0.34818172
103MP0004883_abnormal_blood_vessel0.34763423
104MP0002090_abnormal_vision0.34745404
105MP0009780_abnormal_chondrocyte_physiolo0.34608217
106MP0000249_abnormal_blood_vessel0.34160206
107MP0009115_abnormal_fat_cell0.33958387
108MP0002282_abnormal_trachea_morphology0.33342487
109MP0010155_abnormal_intestine_physiology0.32172858
110MP0009672_abnormal_birth_weight0.31229433
111MP0002132_abnormal_respiratory_system0.30700016
112MP0000537_abnormal_urethra_morphology0.30560204
113MP0002168_other_aberrant_phenotype0.29999296
114MP0004043_abnormal_pH_regulation0.29965656
115MP0001765_abnormal_ion_homeostasis0.29920150
116MP0002060_abnormal_skin_morphology0.29892455
117MP0000579_abnormal_nail_morphology0.29549806
118MP0005381_digestive/alimentary_phenotyp0.29540507
119MP0006082_CNS_inflammation0.29084215
120MP0001944_abnormal_pancreas_morphology0.29048688
121MP0005409_darkened_coat_color0.28987181
122MP0001845_abnormal_inflammatory_respons0.28936420
123MP0004272_abnormal_basement_membrane0.28560285
124MP0001243_abnormal_dermal_layer0.28497004
125MP0003300_gastrointestinal_ulcer0.27389379
126MP0003567_abnormal_fetal_cardiomyocyte0.27319567

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.22244419
2Intrahepatic cholestasis (HP:0001406)7.21465076
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.21434551
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.56706416
5Hypobetalipoproteinemia (HP:0003563)6.34711044
6Prolonged partial thromboplastin time (HP:0003645)6.32440403
7Xanthomatosis (HP:0000991)6.20490501
8Hyperlipoproteinemia (HP:0010980)5.45118172
9Complement deficiency (HP:0004431)4.97253664
10Hypolipoproteinemia (HP:0010981)4.82206418
11Hyperammonemia (HP:0001987)4.71574917
12Joint hemorrhage (HP:0005261)4.60449410
13Hyperglycinemia (HP:0002154)4.41065887
14Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.37914878
15Epidermoid cyst (HP:0200040)4.35631798
16Hypoalphalipoproteinemia (HP:0003233)4.28900153
17Abnormality of the common coagulation pathway (HP:0010990)4.25157289
18Ketosis (HP:0001946)4.22339115
19Abnormality of methionine metabolism (HP:0010901)4.21545045
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.21447851
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.10199299
22Hypoglycemic coma (HP:0001325)4.09401028
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.08008712
24Fat malabsorption (HP:0002630)4.05903784
25Hyperglycinuria (HP:0003108)3.99380139
26Abnormality of glycine metabolism (HP:0010895)3.92175426
27Abnormality of serine family amino acid metabolism (HP:0010894)3.92175426
28Conjugated hyperbilirubinemia (HP:0002908)3.71589759
29Abnormality of complement system (HP:0005339)3.63349167
30Abnormality of pyrimidine metabolism (HP:0004353)3.62645817
31Abnormality of fatty-acid metabolism (HP:0004359)3.60593881
32Abnormality of the intrinsic pathway (HP:0010989)3.59354042
33Hypercholesterolemia (HP:0003124)3.52989912
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.48807314
35Hyperbilirubinemia (HP:0002904)3.32073623
36Nephritis (HP:0000123)3.26032832
37Ketoacidosis (HP:0001993)3.02376850
38Abnormality of nucleobase metabolism (HP:0010932)3.01596631
39Steatorrhea (HP:0002570)3.01190162
40Abnormality of serum amino acid levels (HP:0003112)2.99873706
41Spontaneous abortion (HP:0005268)2.99324194
42Delayed CNS myelination (HP:0002188)2.97237838
43Hepatocellular carcinoma (HP:0001402)2.95650002
44Dicarboxylic aciduria (HP:0003215)2.92149179
45Abnormality of dicarboxylic acid metabolism (HP:0010995)2.92149179
46Metabolic acidosis (HP:0001942)2.85532478
47Myocardial infarction (HP:0001658)2.84002294
48Hypochromic microcytic anemia (HP:0004840)2.81766541
49Joint swelling (HP:0001386)2.76553560
50Lethargy (HP:0001254)2.71795129
51Abnormality of purine metabolism (HP:0004352)2.71072038
52Skin nodule (HP:0200036)2.64358892
53Retinal atrophy (HP:0001105)2.63120394
54Vascular calcification (HP:0004934)2.60725937
55Cerebral edema (HP:0002181)2.57539665
56Abnormal delivery (HP:0001787)2.56178213
57Hypoglycemic seizures (HP:0002173)2.54161398
58Acanthocytosis (HP:0001927)2.52835467
59Systemic lupus erythematosus (HP:0002725)2.47274971
60Gout (HP:0001997)2.46278190
61Osteomalacia (HP:0002749)2.43645478
62Abnormal gallbladder morphology (HP:0012437)2.40213110
63Spastic diplegia (HP:0001264)2.38942752
64Malnutrition (HP:0004395)2.38884980
65Glomerulonephritis (HP:0000099)2.35676123
66Abnormal gallbladder physiology (HP:0012438)2.35607057
67Cholecystitis (HP:0001082)2.35607057
68Cholelithiasis (HP:0001081)2.35328098
69Sensorimotor neuropathy (HP:0007141)2.32063805
70Cardiovascular calcification (HP:0011915)2.31483168
71Irritability (HP:0000737)2.31223947
72Neonatal onset (HP:0003623)2.29640799
73Amyloidosis (HP:0011034)2.25670145
74Esophageal varix (HP:0002040)2.24878505
75Mitral stenosis (HP:0001718)2.23808917
76Pancreatitis (HP:0001733)2.18367047
77Generalized aminoaciduria (HP:0002909)2.18221593
78Hyperactive renin-angiotensin system (HP:0000841)2.17572633
79Vomiting (HP:0002013)2.15687544
80Gingival bleeding (HP:0000225)2.14333863
81Late onset (HP:0003584)2.14021749
82Brushfield spots (HP:0001088)2.12550401
83Elevated alkaline phosphatase (HP:0003155)2.10014758
84Menorrhagia (HP:0000132)2.09673822
85Alkalosis (HP:0001948)2.09111973
86Abnormal cartilage morphology (HP:0002763)2.08065768
87Enlarged kidneys (HP:0000105)2.06896523
88Abnormal enzyme/coenzyme activity (HP:0012379)2.06428349
89Hyperphosphaturia (HP:0003109)2.05518687
90Recurrent gram-negative bacterial infections (HP:0005420)2.04934371
91Hyperinsulinemic hypoglycemia (HP:0000825)2.04133790
92Abnormality of alkaline phosphatase activity (HP:0004379)2.03710393
93Epistaxis (HP:0000421)2.01058548
94Opisthotonus (HP:0002179)2.00573379
95Thrombophlebitis (HP:0004418)1.98220689
96Rickets (HP:0002748)1.97647937
97Poikilocytosis (HP:0004447)1.97409718
98Abnormal tarsal ossification (HP:0008369)1.96983837
99Abnormality of the gallbladder (HP:0005264)1.96606226
100Cerebral palsy (HP:0100021)1.95850119
101Chronic hepatic failure (HP:0100626)1.94837802
102Hemorrhage of the eye (HP:0011885)1.93971958
103Renal cortical cysts (HP:0000803)1.92604786
104Hydroxyprolinuria (HP:0003080)1.89292363
105Abnormality of proline metabolism (HP:0010907)1.89292363
106Glycosuria (HP:0003076)1.86792979
107Abnormality of urine glucose concentration (HP:0011016)1.86792979
108Fair hair (HP:0002286)1.84326843
109Abnormality of iron homeostasis (HP:0011031)1.83080571
110Proximal tubulopathy (HP:0000114)1.81567535
111Abnormality of vitamin metabolism (HP:0100508)1.80533831
112Neonatal hypoglycemia (HP:0001998)1.80061577
113Increased serum pyruvate (HP:0003542)1.79809616
114Abnormality of transition element cation homeostasis (HP:0011030)1.79668404
115Elevated hepatic transaminases (HP:0002910)1.79652020
116Hypophosphatemic rickets (HP:0004912)1.78538797
117Increased purine levels (HP:0004368)1.77037459
118Metabolic alkalosis (HP:0200114)1.71836253
119Pulmonary embolism (HP:0002204)1.70898953
120Purpura (HP:0000979)1.70713821
121Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.70439955
122Abnormality of alanine metabolism (HP:0010916)1.70439955
123Hyperalaninemia (HP:0003348)1.70439955
124Abnormality of the Achilles tendon (HP:0005109)1.69905852
125Reduced antithrombin III activity (HP:0001976)1.68775045
126Abnormal urine phosphate concentration (HP:0012599)1.65845906

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK27.98858889
2BCKDK7.11606777
3ERN14.56902909
4SIK14.24269276
5FGFR44.12158245
6ACVR1B3.82387951
7TAOK33.20607712
8MST1R3.16479168
9INSRR2.80545303
10EPHA22.69165373
11ERBB42.37540471
12FRK2.31781256
13PKN22.21065456
14MAP2K42.06588915
15AKT31.98352608
16PIK3CG1.83601591
17LATS11.79455812
18TYK21.72779299
19FLT31.72320130
20MAPK111.64259661
21TRIB31.61762374
22WNK31.57701562
23PTK61.53674538
24ABL21.49934090
25MAP3K121.45021586
26NEK91.40807593
27DAPK21.35495394
28MAP3K71.32259571
29KDR1.30429222
30OXSR11.30285891
31WNK41.23977882
32PIK3CA1.21094826
33MET1.20223694
34FGFR21.15513003
35STK391.12394086
36TBK11.10924720
37JAK21.10674838
38PRKAA21.08987602
39GRK61.05353386
40MAP3K141.03414391
41EPHB11.01238017
42ERBB21.00849441
43MAP2K20.98185555
44MAP2K60.93592773
45FER0.92752935
46PINK10.90962645
47CAMK1D0.90212399
48MAPK40.89104284
49MAPK150.88071783
50RIPK10.87477837
51TIE10.87134813
52CSK0.87087829
53JAK10.86581878
54NTRK30.83524333
55PRKCZ0.82807159
56MAP2K30.80728194
57MAP3K100.80458434
58NLK0.76530619
59CDK60.75855115
60MAP3K110.75703539
61PRKACG0.74938294
62STK38L0.74170763
63NEK10.72491022
64CASK0.72188107
65DYRK1B0.70482523
66CAMK2G0.70307314
67MAPKAPK30.69128229
68EIF2AK30.68982036
69MAPK120.68718974
70MAP3K30.65876556
71GSK3A0.62454843
72PRKAA10.62373031
73MAP2K10.62215252
74PTK20.58972893
75IKBKE0.57997831
76PDPK10.56751269
77PRKG10.55872158
78PRKACB0.54994842
79EPHA30.53942122
80TGFBR20.52591891
81PRKCQ0.51714897
82MAP3K20.51356045
83ICK0.51099967
84GRK10.50920940
85MYLK0.50084058
86CSNK1A10.49943061
87IRAK30.49196975
88SGK30.48493140
89PRKCE0.48202185
90PRKCB0.47857381
91CAMK2D0.46491550
92CSNK1E0.46153384
93PHKG20.45478264
94PHKG10.45478264
95NUAK10.45236125
96MAPK70.45187594
97CSF1R0.44096125
98PDGFRA0.43542865
99TAOK20.43352125
100TNK20.42764900
101PRKACA0.41973056
102MAP3K10.40404413
103RET0.39743879
104NEK60.39447655
105EPHB20.38993685
106CSNK1D0.38898933
107KSR20.38742516
108IGF1R0.38615221
109FGFR30.38294515
110PDK10.37081661
111CAMK1G0.35832139
112PRKCA0.35721151
113PDK30.35494264
114PDK40.35494264
115CDK90.34285353
116MAP3K50.34071105
117AKT20.33799930
118TESK20.32179356
119SRC0.31969291
120EPHA40.31682327
121CSNK2A20.31608895
122CSNK1G10.31281735
123RPS6KB10.30419334
124OBSCN0.30141211
125EGFR0.29534605
126MTOR0.29400888
127SGK20.29336899
128PBK0.29197553
129LMTK20.28819137
130PRKCG0.28686346
131SGK4940.28269959
132SGK2230.28269959
133PRPF4B0.26889708
134PRKG20.26709556
135CDK40.25066932
136PRKCI0.24441005
137MATK0.23922164
138CAMK40.21140616
139PAK30.21081582

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.31327153
2Nitrogen metabolism_Homo sapiens_hsa009103.49784149
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.49738873
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.16220274
5Arginine biosynthesis_Homo sapiens_hsa002202.91446370
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.73322358
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.67072686
8Tryptophan metabolism_Homo sapiens_hsa003802.65038644
9Fatty acid degradation_Homo sapiens_hsa000712.63031811
10Complement and coagulation cascades_Homo sapiens_hsa046102.59798769
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.46652347
12* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41769432
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.39605867
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.22076895
15* Butanoate metabolism_Homo sapiens_hsa006502.11084229
16Peroxisome_Homo sapiens_hsa041462.08031452
17Chemical carcinogenesis_Homo sapiens_hsa052042.06225250
18Steroid hormone biosynthesis_Homo sapiens_hsa001402.02539218
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.00073262
20Propanoate metabolism_Homo sapiens_hsa006401.99222941
21Sulfur metabolism_Homo sapiens_hsa009201.98873674
22Histidine metabolism_Homo sapiens_hsa003401.91939551
23Fatty acid metabolism_Homo sapiens_hsa012121.89441987
24* PPAR signaling pathway_Homo sapiens_hsa033201.84489051
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.76326077
26Retinol metabolism_Homo sapiens_hsa008301.73213987
27beta-Alanine metabolism_Homo sapiens_hsa004101.71398024
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.63894736
29Staphylococcus aureus infection_Homo sapiens_hsa051501.63742233
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.62259310
31Bile secretion_Homo sapiens_hsa049761.55746159
32Caffeine metabolism_Homo sapiens_hsa002321.54635949
33Selenocompound metabolism_Homo sapiens_hsa004501.52857727
34Phenylalanine metabolism_Homo sapiens_hsa003601.50962210
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.44261794
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.42694833
37Tyrosine metabolism_Homo sapiens_hsa003501.42458154
38Fatty acid elongation_Homo sapiens_hsa000621.41234606
39Pyruvate metabolism_Homo sapiens_hsa006201.40450517
40* Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33563315
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.31417579
42Starch and sucrose metabolism_Homo sapiens_hsa005001.29025174
43Fat digestion and absorption_Homo sapiens_hsa049751.28803138
44Sulfur relay system_Homo sapiens_hsa041221.25428133
45Carbon metabolism_Homo sapiens_hsa012001.19231243
46ABC transporters_Homo sapiens_hsa020101.17968039
47Folate biosynthesis_Homo sapiens_hsa007901.16135567
48Biosynthesis of amino acids_Homo sapiens_hsa012301.12976527
49Steroid biosynthesis_Homo sapiens_hsa001001.09503202
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.01727929
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.99954567
52Arginine and proline metabolism_Homo sapiens_hsa003300.94512211
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.93925462
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.93834905
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91724144
56Vitamin B6 metabolism_Homo sapiens_hsa007500.85664263
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.85236451
58Vitamin digestion and absorption_Homo sapiens_hsa049770.82994671
59Lysine degradation_Homo sapiens_hsa003100.77715146
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75393516
61Glycerolipid metabolism_Homo sapiens_hsa005610.73781975
62Glutathione metabolism_Homo sapiens_hsa004800.67130119
63Pentose phosphate pathway_Homo sapiens_hsa000300.66812375
64One carbon pool by folate_Homo sapiens_hsa006700.65531915
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.54293229
66Fatty acid biosynthesis_Homo sapiens_hsa000610.52820319
67* Metabolic pathways_Homo sapiens_hsa011000.48821947
68alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.45384769
69Other glycan degradation_Homo sapiens_hsa005110.45331435
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43877982
71Linoleic acid metabolism_Homo sapiens_hsa005910.38954081
72Fructose and mannose metabolism_Homo sapiens_hsa000510.37721329
73Galactose metabolism_Homo sapiens_hsa000520.28458986
74Prion diseases_Homo sapiens_hsa050200.28354370
75Sphingolipid metabolism_Homo sapiens_hsa006000.21794012
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20300036
77Insulin resistance_Homo sapiens_hsa049310.20161907
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.19650589
79Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.13917738
80Pertussis_Homo sapiens_hsa051330.09260307
81Glucagon signaling pathway_Homo sapiens_hsa049220.06509200
82Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.02759193
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.01188625
84AMPK signaling pathway_Homo sapiens_hsa041520.00590456
85Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2128946
86Parkinsons disease_Homo sapiens_hsa05012-0.2093735
87Alzheimers disease_Homo sapiens_hsa05010-0.2045922
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1914848
89Regulation of autophagy_Homo sapiens_hsa04140-0.1892136
90Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1889428
91Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1810259
92N-Glycan biosynthesis_Homo sapiens_hsa00510-0.1787357
93Renin-angiotensin system_Homo sapiens_hsa04614-0.1772817
94Hepatitis C_Homo sapiens_hsa05160-0.1714087
95Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1687976
96Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1678247
97Ether lipid metabolism_Homo sapiens_hsa00565-0.1666979
98Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1644446
99Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1607323
100Serotonergic synapse_Homo sapiens_hsa04726-0.1575891
101Oxidative phosphorylation_Homo sapiens_hsa00190-0.1518931
102African trypanosomiasis_Homo sapiens_hsa05143-0.1465887
103Mineral absorption_Homo sapiens_hsa04978-0.1427091
104Tight junction_Homo sapiens_hsa04530-0.1389613
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1293861
106Amoebiasis_Homo sapiens_hsa05146-0.1144280
107Insulin signaling pathway_Homo sapiens_hsa04910-0.1056950
108* Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.1050018
109Pancreatic secretion_Homo sapiens_hsa04972-0.0810460
110Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0729743
111Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0315620

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