NR1H4

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 ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)7.80524535
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.52389783
3L-phenylalanine catabolic process (GO:0006559)7.52389783
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.21190620
5L-phenylalanine metabolic process (GO:0006558)7.21190620
6aromatic amino acid family catabolic process (GO:0009074)6.80541909
7indole-containing compound catabolic process (GO:0042436)6.19040167
8indolalkylamine catabolic process (GO:0046218)6.19040167
9tryptophan catabolic process (GO:0006569)6.19040167
10kynurenine metabolic process (GO:0070189)5.96588834
11glyoxylate metabolic process (GO:0046487)5.95779767
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.92319263
13tryptophan metabolic process (GO:0006568)5.84333385
14bile acid biosynthetic process (GO:0006699)5.84178441
15regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)5.73454033
16angiotensin maturation (GO:0002003)5.62883884
17omega-hydroxylase P450 pathway (GO:0097267)5.60965534
18cysteine metabolic process (GO:0006534)5.57522382
19urea metabolic process (GO:0019627)5.49033139
20urea cycle (GO:0000050)5.49033139
21alpha-linolenic acid metabolic process (GO:0036109)5.43426505
22sulfur amino acid catabolic process (GO:0000098)5.37201419
23negative regulation of fibrinolysis (GO:0051918)5.19630160
24high-density lipoprotein particle remodeling (GO:0034375)5.17036483
25serine family amino acid catabolic process (GO:0009071)5.13392583
26intestinal absorption (GO:0050892)5.10791004
27fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.08316466
28fat-soluble vitamin biosynthetic process (GO:0042362)5.06409923
29complement activation, alternative pathway (GO:0006957)5.06090125
30nitrogen cycle metabolic process (GO:0071941)5.06046711
31protein carboxylation (GO:0018214)5.06046630
32peptidyl-glutamic acid carboxylation (GO:0017187)5.06046630
33regulation of protein activation cascade (GO:2000257)5.03265650
34homocysteine metabolic process (GO:0050667)5.02746930
35regulation of fibrinolysis (GO:0051917)5.01864972
36lysine catabolic process (GO:0006554)4.98897234
37lysine metabolic process (GO:0006553)4.98897234
38aromatic amino acid family metabolic process (GO:0009072)4.96968107
39* bile acid metabolic process (GO:0008206)4.93405045
40hormone catabolic process (GO:0042447)4.86722953
41amino-acid betaine metabolic process (GO:0006577)4.70616750
42regulation of complement activation (GO:0030449)4.70181293
43tyrosine metabolic process (GO:0006570)4.69654076
44alpha-amino acid catabolic process (GO:1901606)4.64264532
45regulation of triglyceride catabolic process (GO:0010896)4.61530018
46bile acid and bile salt transport (GO:0015721)4.58742186
47regulation of cholesterol esterification (GO:0010872)4.54949020
48plasma lipoprotein particle remodeling (GO:0034369)4.53288649
49protein-lipid complex remodeling (GO:0034368)4.53288649
50macromolecular complex remodeling (GO:0034367)4.53288649
51reverse cholesterol transport (GO:0043691)4.51995714
52cellular ketone body metabolic process (GO:0046950)4.50834398
53triglyceride homeostasis (GO:0070328)4.46551559
54acylglycerol homeostasis (GO:0055090)4.46551559
55drug catabolic process (GO:0042737)4.43015677
56protein-lipid complex assembly (GO:0065005)4.42922927
57negative regulation of sterol transport (GO:0032372)4.42913792
58negative regulation of cholesterol transport (GO:0032375)4.42913792
59indolalkylamine metabolic process (GO:0006586)4.40151022
60coenzyme catabolic process (GO:0009109)4.33903889
61cellular glucuronidation (GO:0052695)4.33850485
62lipoprotein transport (GO:0042953)4.32828739
63protein activation cascade (GO:0072376)4.31918840
64cellular amino acid catabolic process (GO:0009063)4.31776761
65phospholipid efflux (GO:0033700)4.30595257
66glycine metabolic process (GO:0006544)4.29661174
67serine family amino acid metabolic process (GO:0009069)4.28380924
68glutamate metabolic process (GO:0006536)4.27419864
69ethanol metabolic process (GO:0006067)4.26634703
70amine catabolic process (GO:0009310)4.25769964
71cellular biogenic amine catabolic process (GO:0042402)4.25769964
72complement activation (GO:0006956)4.23125647
73cellular modified amino acid catabolic process (GO:0042219)4.20281623
74plasma lipoprotein particle organization (GO:0071827)4.17772515
75benzene-containing compound metabolic process (GO:0042537)4.17314814
76intestinal cholesterol absorption (GO:0030299)4.11939286
77drug transmembrane transport (GO:0006855)4.10430226
78imidazole-containing compound metabolic process (GO:0052803)4.08238347
79plasma lipoprotein particle clearance (GO:0034381)4.07654337
80urate metabolic process (GO:0046415)4.05910312
81acute-phase response (GO:0006953)4.04843074
82ethanol oxidation (GO:0006069)4.04359782
83serine family amino acid biosynthetic process (GO:0009070)4.03801016
84negative regulation of blood coagulation (GO:0030195)4.00066445
85negative regulation of hemostasis (GO:1900047)4.00066445
86lipoprotein metabolic process (GO:0042157)3.97258841
87NADH metabolic process (GO:0006734)3.96716699
88aldehyde catabolic process (GO:0046185)3.96436331
89exogenous drug catabolic process (GO:0042738)3.95939674
90cholesterol efflux (GO:0033344)3.95482573
91dicarboxylic acid biosynthetic process (GO:0043650)3.94634119
92protein-lipid complex subunit organization (GO:0071825)3.94621013
93arginine metabolic process (GO:0006525)3.91271588
94ketone body metabolic process (GO:1902224)3.91258283
95uronic acid metabolic process (GO:0006063)3.90554185
96glucuronate metabolic process (GO:0019585)3.90554185
97short-chain fatty acid metabolic process (GO:0046459)3.87523831
98oxidative demethylation (GO:0070989)3.87473771
99alkaloid metabolic process (GO:0009820)3.86544207
100low-density lipoprotein particle remodeling (GO:0034374)3.86454045
101fructose metabolic process (GO:0006000)3.86421628
102diacylglycerol metabolic process (GO:0046339)3.81841990
103phenylpropanoid metabolic process (GO:0009698)3.80789320
104carboxylic acid catabolic process (GO:0046395)3.80080497
105organic acid catabolic process (GO:0016054)3.80080497
106plasma lipoprotein particle assembly (GO:0034377)3.79477041
107acetyl-CoA metabolic process (GO:0006084)3.78036838
108regulation of cholesterol homeostasis (GO:2000188)3.77278872
109fibrinolysis (GO:0042730)3.75516961
110negative regulation of coagulation (GO:0050819)3.74799874
111regulation of humoral immune response (GO:0002920)3.69617149
112cholesterol homeostasis (GO:0042632)3.69580581
113flavonoid metabolic process (GO:0009812)3.68521744
114cofactor catabolic process (GO:0051187)3.66083150
115phospholipid homeostasis (GO:0055091)3.66068557
116sterol homeostasis (GO:0055092)3.65086858
117aspartate family amino acid catabolic process (GO:0009068)3.64925323
118regulation of plasminogen activation (GO:0010755)3.63795640
119positive regulation of lipoprotein lipase activity (GO:0051006)3.61075949
120positive regulation of triglyceride lipase activity (GO:0061365)3.61075949
121very-low-density lipoprotein particle assembly (GO:0034379)3.59148984
122positive regulation of lipid catabolic process (GO:0050996)3.57620260
123drug metabolic process (GO:0017144)3.56977564
124* regulation of bile acid biosynthetic process (GO:0070857)3.56652968
125negative regulation of wound healing (GO:0061045)3.56112749
126negative regulation of protein activation cascade (GO:2000258)3.55986666
127polyketide metabolic process (GO:0030638)3.54838099
128doxorubicin metabolic process (GO:0044598)3.54838099
129daunorubicin metabolic process (GO:0044597)3.54838099
130blood coagulation, intrinsic pathway (GO:0007597)3.54807305
131complement activation, classical pathway (GO:0006958)3.53628865
132fatty acid oxidation (GO:0019395)3.53306522
133monocarboxylic acid catabolic process (GO:0072329)3.52069901
134fatty acid beta-oxidation (GO:0006635)3.51639654
135positive regulation of fatty acid biosynthetic process (GO:0045723)3.47122546
136drug transport (GO:0015893)3.46196499
137negative regulation of lipase activity (GO:0060192)3.36902126
138heme transport (GO:0015886)3.35571770
139regulation of apoptotic cell clearance (GO:2000425)3.31941848
140regulation of guanylate cyclase activity (GO:0031282)3.30758897
141regulation of systemic arterial blood pressure by hormone (GO:0001990)3.29164470
142regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)3.29164470
143endocrine process (GO:0050886)3.29164470

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.28399549
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.14924809
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse6.75444104
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.42225075
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.15749001
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.90122982
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.78352692
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.98002016
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.85426079
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.18403932
11TRIM28_21343339_ChIP-Seq_HEK293_Human2.09501880
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08626445
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.05726065
14* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.6512859
15CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.93679929
16CLOCK_20551151_ChIP-Seq_293T_Human1.64699444
17FOXA2_19822575_ChIP-Seq_HepG2_Human1.64607886
18CDX2_19796622_ChIP-Seq_MESCs_Mouse1.58635526
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.50175523
20* HNF4A_19822575_ChIP-Seq_HepG2_Human1.47248651
21GATA1_22025678_ChIP-Seq_K562_Human1.47060592
22HTT_18923047_ChIP-ChIP_STHdh_Human1.43300044
23BP1_19119308_ChIP-ChIP_Hs578T_Human1.40352743
24TCF4_18268006_ChIP-ChIP_LS174T_Human1.35031651
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32983204
26THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25605605
27SOX2_27498859_Chip-Seq_STOMACH_Mouse1.18162788
28TP63_17297297_ChIP-ChIP_HaCaT_Human1.17129748
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.15823509
30ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.14885079
31RXRA_24833708_ChIP-Seq_LIVER_Mouse1.14774398
32IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.09401802
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04227746
34STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.04003564
35GATA4_25053715_ChIP-Seq_YYC3_Human1.00922498
36PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94604704
37ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93316728
38RARG_19884340_ChIP-ChIP_MEFs_Mouse0.93028483
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88418592
40AR_21909140_ChIP-Seq_LNCAP_Human0.88143020
41IRF8_22096565_ChIP-ChIP_GC-B_Human0.87890506
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86750261
43BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.83205608
44ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.80979354
45ESR2_21235772_ChIP-Seq_MCF-7_Human0.80626966
46CDX2_20551321_ChIP-Seq_CACO-2_Human0.80454660
47KAP1_22055183_ChIP-Seq_ESCs_Mouse0.79652355
48AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79204596
49AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77216518
50Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.75931967
51RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.74758356
52RARA_24833708_ChIP-Seq_LIVER_Mouse0.74538468
53SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74410810
54KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.74111813
55SALL4_18804426_ChIP-ChIP_XEN_Mouse0.73091877
56SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.72052546
57NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.71350723
58ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.70985059
59ESR1_21235772_ChIP-Seq_MCF-7_Human0.70852957
60ZNF263_19887448_ChIP-Seq_K562_Human0.70606012
61CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70497375
62TP53_18474530_ChIP-ChIP_U2OS_Human0.70158859
63SOX2_21211035_ChIP-Seq_LN229_Human0.69787445
64HNFA_21074721_ChIP-Seq_CACO-2_Human0.68764486
65CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.68160513
66JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.67429972
67CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.67398851
68SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.67198086
69NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.67083039
70NRF2_20460467_ChIP-Seq_MEFs_Mouse0.67083039
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.65475709
72BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.64733231
73RAD21_21589869_ChIP-Seq_MESCs_Mouse0.64627508
74SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.64601826
75RARB_24833708_ChIP-Seq_LIVER_Mouse0.61912855
76EGR1_19032775_ChIP-ChIP_M12_Human0.61790188
77P63_26484246_Chip-Seq_KERATINOCYTES_Human0.61599834
78FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.61119014
79NANOG_20526341_ChIP-Seq_ESCs_Human0.60474824
80FOXA1_25552417_ChIP-Seq_VCAP_Human0.60391754
81SRY_22984422_ChIP-ChIP_TESTIS_Rat0.60129289
82CEBPB_22108803_ChIP-Seq_LS180_Human0.60055235
83BCOR_27268052_Chip-Seq_Bcells_Human0.59535334
84EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.59459776
85TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.59403626
86STAT3_1855785_ChIP-Seq_MESCs_Mouse0.58609335
87* GATA6_25053715_ChIP-Seq_YYC3_Human0.58331947
88NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.58276931
89LXR_22292898_ChIP-Seq_THP-1_Human0.57905405
90CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.57647020
91KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.57223028
92* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.56428990
93FOXO3_23340844_ChIP-Seq_DLD1_Human0.55979010
94TP63_23658742_ChIP-Seq_EP156T_Human0.55791199
95MYC_19915707_ChIP-ChIP_AK7_Human0.55768893
96* SA1_27219007_Chip-Seq_Bcells_Human0.55041875
97FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.54008469
98FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.53707472
99* AR_20517297_ChIP-Seq_VCAP_Human0.53581694
100* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.52215648
101FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.51636042
102PPAR_26484153_Chip-Seq_NCI-H1993_Human0.51602593
103ESET_19884257_ChIP-Seq_ESCs_Mouse0.51404722
104SOX2_20726797_ChIP-Seq_SW620_Human0.50599246
105STAT1_17558387_ChIP-Seq_HELA_Human0.50435109
106ESR1_20079471_ChIP-ChIP_T-47D_Human0.48065628
107* CBP_21632823_ChIP-Seq_H3396_Human0.46785684
108PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.46308649
109TAF2_19829295_ChIP-Seq_ESCs_Human0.46147987
110P53_21459846_ChIP-Seq_SAOS-2_Human0.45985972
111GATA2_19941826_ChIP-Seq_K562_Human0.45262967
112PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44809397
113* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44686965
114GATA1_19941826_ChIP-Seq_K562_Human0.44428359
115EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.43061671
116CDX2_22108803_ChIP-Seq_LS180_Human0.42487700
117SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.42383286
118BCAT_22108803_ChIP-Seq_LS180_Human0.42220326
119ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.41761728
120GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.40741280
121GATA1_19941827_ChIP-Seq_MEL_Mouse0.40222024
122GATA3_24758297_ChIP-Seq_MCF-7_Human0.39568250
123FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.38570128
124ERG_21242973_ChIP-ChIP_JURKAT_Human0.38254377
125GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.38072719
126STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.37488178
127* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.37465470
128CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.37081766
129NCOR_22424771_ChIP-Seq_293T_Human0.37037824
130RACK7_27058665_Chip-Seq_MCF-7_Human0.35889752
131FOXH1_21741376_ChIP-Seq_EPCs_Human0.35823940

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.22779615
2MP0005360_urolithiasis7.84965384
3* MP0005085_abnormal_gallbladder_physiolo6.16114655
4MP0005365_abnormal_bile_salt6.09864062
5MP0008875_abnormal_xenobiotic_pharmacok5.19251045
6MP0003806_abnormal_nucleotide_metabolis4.04882119
7* MP0003252_abnormal_bile_duct3.61109213
8MP0010329_abnormal_lipoprotein_level3.43050020
9MP0009840_abnormal_foam_cell3.02325451
10MP0005332_abnormal_amino_acid2.99506899
11MP0003195_calcinosis2.98142208
12MP0005083_abnormal_biliary_tract2.89742991
13MP0001666_abnormal_nutrient_absorption2.78172501
14MP0004019_abnormal_vitamin_homeostasis2.51200325
15MP0003183_abnormal_peptide_metabolism2.44846535
16MP0003191_abnormal_cellular_cholesterol2.27286596
17MP0002138_abnormal_hepatobiliary_system2.26170257
18* MP0000609_abnormal_liver_physiology2.06969172
19* MP0002118_abnormal_lipid_homeostasis2.04967444
20MP0003868_abnormal_feces_composition2.02228060
21* MP0005319_abnormal_enzyme/_coenzyme1.77114499
22MP0001764_abnormal_homeostasis1.67857217
23MP0005584_abnormal_enzyme/coenzyme_acti1.58645981
24MP0009643_abnormal_urine_homeostasis1.55110249
25MP0005451_abnormal_body_composition1.49538480
26MP0009697_abnormal_copulation1.36384705
27MP0010155_abnormal_intestine_physiology1.35417908
28MP0005409_darkened_coat_color1.28071324
29MP0003186_abnormal_redox_activity1.27965041
30MP0003879_abnormal_hair_cell1.21714868
31MP0004147_increased_porphyrin_level1.20737097
32MP0003011_delayed_dark_adaptation1.20025865
33MP0005636_abnormal_mineral_homeostasis1.18654315
34MP0009379_abnormal_foot_pigmentation1.16623187
35* MP0000598_abnormal_liver_morphology1.12555421
36MP0003705_abnormal_hypodermis_morpholog1.11305945
37MP0003656_abnormal_erythrocyte_physiolo1.09423176
38MP0005647_abnormal_sex_gland1.03165775
39MP0009764_decreased_sensitivity_to1.03134046
40MP0005084_abnormal_gallbladder_morpholo0.98220317
41MP0000604_amyloidosis0.93654014
42MP0005670_abnormal_white_adipose0.92418694
43MP0003866_abnormal_defecation0.90230509
44MP0001664_abnormal_digestion0.89697017
45* MP0009763_increased_sensitivity_to0.89015108
46* MP0009642_abnormal_blood_homeostasis0.88725859
47MP0002254_reproductive_system_inflammat0.88654617
48MP0005408_hypopigmentation0.87337897
49MP0002876_abnormal_thyroid_physiology0.87252093
50MP0006036_abnormal_mitochondrial_physio0.86473342
51* MP0008469_abnormal_protein_level0.84937211
52MP0001756_abnormal_urination0.84618136
53MP0000566_synostosis0.82081593
54MP0005220_abnormal_exocrine_pancreas0.81929128
55MP0002078_abnormal_glucose_homeostasis0.79684954
56MP0010368_abnormal_lymphatic_system0.79472782
57MP0002132_abnormal_respiratory_system0.78875593
58MP0005376_homeostasis/metabolism_phenot0.76005093
59MP0004043_abnormal_pH_regulation0.75650052
60MP0009765_abnormal_xenobiotic_induced0.75248473
61MP0002089_abnormal_postnatal_growth/wei0.70748317
62MP0000477_abnormal_intestine_morphology0.70283701
63MP0002971_abnormal_brown_adipose0.69907817
64MP0002136_abnormal_kidney_physiology0.69734953
65MP0001661_extended_life_span0.68611282
66MP0005334_abnormal_fat_pad0.68140502
67MP0000678_abnormal_parathyroid_gland0.66945766
68MP0004130_abnormal_muscle_cell0.63632028
69MP0005266_abnormal_metabolism0.61423337
70* MP0005535_abnormal_body_temperature0.60399235
71MP0009053_abnormal_anal_canal0.59671787
72MP0009785_altered_susceptibility_to0.58931281
73MP0002822_catalepsy0.58830630
74MP0002928_abnormal_bile_duct0.57553734
75MP0003690_abnormal_glial_cell0.56773484
76MP0006035_abnormal_mitochondrial_morpho0.56581894
77MP0005448_abnormal_energy_balance0.54829035
78MP0003329_amyloid_beta_deposits0.54604366
79MP0001765_abnormal_ion_homeostasis0.54280217
80MP0005023_abnormal_wound_healing0.52184554
81MP0003638_abnormal_response/metabolism_0.51493467
82MP0000639_abnormal_adrenal_gland0.50728783
83MP0004264_abnormal_extraembryonic_tissu0.50177576
84MP0005666_abnormal_adipose_tissue0.49775152
85MP0005395_other_phenotype0.48913051
86MP0001663_abnormal_digestive_system0.48441201
87MP0004858_abnormal_nervous_system0.45745888
88MP0003953_abnormal_hormone_level0.45352681
89MP0008873_increased_physiological_sensi0.45227756
90MP0003724_increased_susceptibility_to0.44965468
91MP0005058_abnormal_lysosome_morphology0.44482132
92MP0005464_abnormal_platelet_physiology0.43421663
93MP0010234_abnormal_vibrissa_follicle0.42974364
94MP0000230_abnormal_systemic_arterial0.42342163
95MP0010352_gastrointestinal_tract_polyps0.41788196
96MP0000490_abnormal_crypts_of0.40905772
97MP0003718_maternal_effect0.40719236
98MP0004782_abnormal_surfactant_physiolog0.40684650
99MP0008874_decreased_physiological_sensi0.40439622
100MP0008872_abnormal_physiological_respon0.40120713
101MP0005166_decreased_susceptibility_to0.39901609
102MP0002796_impaired_skin_barrier0.39613969
103MP0001501_abnormal_sleep_pattern0.39407487
104MP0009384_cardiac_valve_regurgitation0.39279165
105MP0001915_intracranial_hemorrhage0.38503134
106MP0001873_stomach_inflammation0.38380587
107MP0000462_abnormal_digestive_system0.37935015
108MP0002168_other_aberrant_phenotype0.37008756
109MP0002837_dystrophic_cardiac_calcinosis0.36628370
110MP0000538_abnormal_urinary_bladder0.35866754
111MP0003075_altered_response_to0.35759888
112MP0009672_abnormal_birth_weight0.35698263
113MP0005381_digestive/alimentary_phenotyp0.34959154
114MP0004272_abnormal_basement_membrane0.33978275
115MP0005248_abnormal_Harderian_gland0.33609235
116MP0003436_decreased_susceptibility_to0.32962464
117MP0003300_gastrointestinal_ulcer0.32355948
118MP0009115_abnormal_fat_cell0.32014879
119MP0000579_abnormal_nail_morphology0.32013163
120MP0005164_abnormal_response_to0.31564268
121MP0001845_abnormal_inflammatory_respons0.30432076
122MP0002909_abnormal_adrenal_gland0.29831717
123MP0002135_abnormal_kidney_morphology0.29283017
124MP0002249_abnormal_larynx_morphology0.29165152
125MP0005167_abnormal_blood-brain_barrier0.28647574
126MP0002896_abnormal_bone_mineralization0.28529626
127MP0002970_abnormal_white_adipose0.28019318
128MP0001881_abnormal_mammary_gland0.26925179
129MP0000249_abnormal_blood_vessel0.26205527

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.17320311
2Intrahepatic cholestasis (HP:0001406)7.09387893
3Deep venous thrombosis (HP:0002625)6.80937786
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.46119565
5Xanthomatosis (HP:0000991)6.10264917
6Prolonged partial thromboplastin time (HP:0003645)6.05481340
7Hypobetalipoproteinemia (HP:0003563)6.01972203
8Hyperlipoproteinemia (HP:0010980)5.19623501
9Complement deficiency (HP:0004431)4.99957160
10Hyperammonemia (HP:0001987)4.60625351
11Abnormality of glutamine family amino acid metabolism (HP:0010902)4.59368779
12Hypolipoproteinemia (HP:0010981)4.50706338
13Joint hemorrhage (HP:0005261)4.45829492
14Hyperglycinemia (HP:0002154)4.40728533
15Ketosis (HP:0001946)4.38962485
16Epidermoid cyst (HP:0200040)4.31479067
17Abnormality of sulfur amino acid metabolism (HP:0004339)4.28020610
18Abnormality of aspartate family amino acid metabolism (HP:0010899)4.27788962
19Hyperglycinuria (HP:0003108)4.24242328
20Abnormality of the common coagulation pathway (HP:0010990)4.18130536
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.13675298
22Fat malabsorption (HP:0002630)4.10522280
23Abnormality of glycine metabolism (HP:0010895)4.10518764
24Abnormality of serine family amino acid metabolism (HP:0010894)4.10518764
25Abnormality of methionine metabolism (HP:0010901)4.05586835
26Hypoglycemic coma (HP:0001325)3.94022534
27Hypoalphalipoproteinemia (HP:0003233)3.93903975
28Conjugated hyperbilirubinemia (HP:0002908)3.73941135
29Abnormality of pyrimidine metabolism (HP:0004353)3.69093034
30Abnormality of complement system (HP:0005339)3.62503816
31Nephritis (HP:0000123)3.60966057
32Abnormality of the intrinsic pathway (HP:0010989)3.58603034
33Abnormality of fatty-acid metabolism (HP:0004359)3.50389810
34Hypercholesterolemia (HP:0003124)3.43607643
35Ketoacidosis (HP:0001993)3.35120283
36Abnormality of nucleobase metabolism (HP:0010932)3.33666417
37Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.33420047
38Hyperbilirubinemia (HP:0002904)3.25018175
39Gout (HP:0001997)3.21473378
40Abnormality of purine metabolism (HP:0004352)3.15953109
41Delayed CNS myelination (HP:0002188)3.13650137
42Abnormality of serum amino acid levels (HP:0003112)3.05160282
43Steatorrhea (HP:0002570)3.03650253
44Osteomalacia (HP:0002749)2.98619641
45Hepatocellular carcinoma (HP:0001402)2.94248816
46Widely patent fontanelles and sutures (HP:0004492)2.92434207
47Metabolic acidosis (HP:0001942)2.88258964
48Spontaneous abortion (HP:0005268)2.81257712
49Potter facies (HP:0002009)2.80817004
50Facial shape deformation (HP:0011334)2.80817004
51Abnormality of dicarboxylic acid metabolism (HP:0010995)2.75432242
52Dicarboxylic aciduria (HP:0003215)2.75432242
53Vascular calcification (HP:0004934)2.74385604
54Myocardial infarction (HP:0001658)2.74057734
55Lethargy (HP:0001254)2.70970548
56Skin nodule (HP:0200036)2.66036382
57Ileus (HP:0002595)2.61311117
58Malnutrition (HP:0004395)2.60364169
59Systemic lupus erythematosus (HP:0002725)2.60277022
60Hypochromic microcytic anemia (HP:0004840)2.57822960
61Hyperphosphaturia (HP:0003109)2.57483722
62Pigmentary retinal degeneration (HP:0001146)2.57080138
63Generalized aminoaciduria (HP:0002909)2.53915083
64Hypoglycemic seizures (HP:0002173)2.51995922
65Abnormal urine phosphate concentration (HP:0012599)2.51265532
66Spastic diplegia (HP:0001264)2.46756443
67Irritability (HP:0000737)2.45381803
68Abnormality of the vitamin B12 metabolism (HP:0004341)2.43708037
69Hypophosphatemia (HP:0002148)2.42885943
70Cardiovascular calcification (HP:0011915)2.42767606
71Acanthocytosis (HP:0001927)2.42069737
72Cerebral edema (HP:0002181)2.40905716
73Alkalosis (HP:0001948)2.38589408
74Proximal tubulopathy (HP:0000114)2.36666914
75Neonatal onset (HP:0003623)2.36566947
76Late onset (HP:0003584)2.30267526
77Abnormal gallbladder morphology (HP:0012437)2.29491861
78Abnormality of vitamin B metabolism (HP:0004340)2.28481507
79Sensorimotor neuropathy (HP:0007141)2.28430731
80Enlarged kidneys (HP:0000105)2.28020119
81Mitral stenosis (HP:0001718)2.27095518
82Nephrolithiasis (HP:0000787)2.27023876
83Purpura (HP:0000979)2.25445190
84Increased purine levels (HP:0004368)2.25266365
85Hyperuricemia (HP:0002149)2.25266365
86Glomerulonephritis (HP:0000099)2.24151807
87Chronic diarrhea (HP:0002028)2.22929542
88Cholelithiasis (HP:0001081)2.22692499
89Vomiting (HP:0002013)2.22238546
90Cholecystitis (HP:0001082)2.22004406
91Abnormal gallbladder physiology (HP:0012438)2.22004406
92Nausea (HP:0002018)2.20024353
93Confusion (HP:0001289)2.19969013
94Pancreatitis (HP:0001733)2.19819105
95Abnormality of proline metabolism (HP:0010907)2.19555920
96Hydroxyprolinuria (HP:0003080)2.19555920
97Rickets (HP:0002748)2.17826444
98Esophageal varix (HP:0002040)2.16621459
99Abnormal tarsal ossification (HP:0008369)2.14806834
100Recurrent gram-negative bacterial infections (HP:0005420)2.11684470
101Glycosuria (HP:0003076)2.10812903
102Abnormality of urine glucose concentration (HP:0011016)2.10812903
103Hyperinsulinemic hypoglycemia (HP:0000825)2.07343842
104Amyloidosis (HP:0011034)2.06790355
105Wide cranial sutures (HP:0010537)2.06645040
106Abnormality of alkaline phosphatase activity (HP:0004379)2.06272948
107Brushfield spots (HP:0001088)2.05638196
108Megaloblastic anemia (HP:0001889)2.05345485
109Abnormal enzyme/coenzyme activity (HP:0012379)2.02208019
110Elevated alkaline phosphatase (HP:0003155)1.99353055
111Menorrhagia (HP:0000132)1.98855229
112Opisthotonus (HP:0002179)1.98588121
113Cerebral palsy (HP:0100021)1.96759079
114Gingival bleeding (HP:0000225)1.96668126
115Thrombophlebitis (HP:0004418)1.96397473
116Flat acetabular roof (HP:0003180)1.95699646
117Abnormal cartilage morphology (HP:0002763)1.92505791
118Abnormality of the gallbladder (HP:0005264)1.92313729
119Hypophosphatemic rickets (HP:0004912)1.90660745
120Abnormality of vitamin metabolism (HP:0100508)1.89942223
121Focal segmental glomerulosclerosis (HP:0000097)1.89051713
122Hemorrhage of the eye (HP:0011885)1.88658317
123Renal cortical cysts (HP:0000803)1.86978022
124Abdominal distention (HP:0003270)1.83910994
125Abnormality of transition element cation homeostasis (HP:0011030)1.83869831
126Poikilocytosis (HP:0004447)1.83622272
127Joint swelling (HP:0001386)1.81830535
128Hypotension (HP:0002615)1.79633343
129Abnormality of carpal bone ossification (HP:0006257)1.77417460

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.92977370
2ACVR1B5.50350936
3FGFR44.30909390
4ERN14.16051510
5SIK13.95682077
6MST1R3.30184143
7INSRR3.03046977
8TAOK32.99092844
9ERBB42.88437654
10PRKG22.60916902
11FRK2.31088674
12EPHA22.01137221
13MAP2K42.00178142
14PKN21.95876266
15MAPK111.91376181
16ICK1.85712307
17LMTK21.77014741
18LATS11.73210261
19STK391.71278234
20PIK3CG1.64833435
21FLT31.64020378
22MAP3K121.63421541
23PTK61.63103841
24TRIB31.59585981
25TYK21.45737773
26WNK41.38778346
27ABL21.34887642
28STK38L1.27622462
29NEK91.27329182
30MAP3K71.26338789
31PDK21.26319985
32MET1.25381198
33WNK31.25064416
34DDR21.24546028
35GRK61.18394007
36PRKAA21.18045705
37DAPK21.17418652
38JAK21.16921080
39FGFR21.13586489
40KDR1.13575699
41MAPK151.13407207
42PINK11.07432684
43ERBB21.03938814
44PDGFRA1.03395061
45NLK1.01909818
46MAP3K141.01187890
47MAP3K31.00467878
48EPHA40.98141036
49PRPF4B0.97723974
50MAP2K30.93976755
51MAP3K100.93344562
52TBK10.93286029
53EPHB10.89929662
54PIK3CA0.85597025
55OXSR10.85099539
56JAK10.84950494
57CASK0.82333335
58MAPK40.82254416
59IRAK30.81948421
60STK240.79374244
61RIPK10.79307375
62DYRK1B0.78406986
63MAP3K20.77399977
64FER0.77051432
65GSK3A0.75774994
66MATK0.75107639
67TESK20.74026656
68SGK30.74022170
69PRKAA10.73907900
70MAP2K60.72287029
71TIE10.72142414
72PRKACG0.72051201
73PTK20.71655229
74CAMK2G0.67535873
75MAP3K110.67458891
76CSK0.67103707
77EPHA30.66127246
78CDK60.65605755
79CDC42BPA0.64100595
80MAPK120.62156881
81MAP2K20.59968344
82PDK40.59663522
83PDK30.59663522
84SGK4940.58376041
85SGK2230.58376041
86TNIK0.58178920
87TGFBR20.57999403
88MAP2K10.57109697
89SGK20.55971504
90SRC0.55262064
91PDPK10.52627852
92MELK0.51769178
93* PRKCZ0.49094417
94FGFR10.47741396
95CAMK1D0.47000664
96NEK60.46244526
97FGFR30.45969281
98IKBKE0.45017174
99PRKCQ0.44966924
100CDK120.44898789
101GRK10.43420102
102EEF2K0.43213180
103EPHB20.41946705
104IGF1R0.41020976
105PRKG10.40885591
106CSNK1G10.40222286
107RET0.39206587
108MAPK70.38646530
109MAP3K130.37454602
110KSR20.37122823
111MAP4K10.36495604
112PRKACA0.35556833
113BMPR20.33947126
114MAP3K10.33793820
115AKT30.33644502
116ZAP700.33240137
117IRAK20.32234101
118PIM10.31898568
119MAP3K50.31767314
120PDK10.31027532
121MAPKAPK30.30805137
122MTOR0.30431902
123CSF1R0.30385924
124MST40.30373796
125MAP3K60.30349296
126IRAK10.30092145
127PAK30.29961500
128BRSK20.28696223
129SGK10.28074459
130TAOK20.27043122
131PRKCG0.26420203
132EGFR0.26401991
133CDK40.25539617
134PKN10.25373629
135CDK90.24753164
136NEK10.24703336
137FYN0.24515443
138* PRKCA0.24209281
139MYLK0.22888019
140YES10.22728921
141PRKCB0.21916877

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.33695349
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.44421438
3Nitrogen metabolism_Homo sapiens_hsa009103.40520315
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.26909096
5Arginine biosynthesis_Homo sapiens_hsa002202.95075233
6Tryptophan metabolism_Homo sapiens_hsa003802.73173713
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.65564871
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.59056949
9Complement and coagulation cascades_Homo sapiens_hsa046102.54401810
10Fatty acid degradation_Homo sapiens_hsa000712.52327848
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.50485941
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.46157625
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.37492041
14Butanoate metabolism_Homo sapiens_hsa006502.30473261
15Peroxisome_Homo sapiens_hsa041462.14046247
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.08689257
17Propanoate metabolism_Homo sapiens_hsa006402.00277351
18Histidine metabolism_Homo sapiens_hsa003401.90461771
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.89400167
20PPAR signaling pathway_Homo sapiens_hsa033201.88311211
21Chemical carcinogenesis_Homo sapiens_hsa052041.86755706
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.84253313
23Fatty acid metabolism_Homo sapiens_hsa012121.79509728
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.73871611
25beta-Alanine metabolism_Homo sapiens_hsa004101.72798968
26Caffeine metabolism_Homo sapiens_hsa002321.71801183
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.71505994
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.67093190
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64820103
30Retinol metabolism_Homo sapiens_hsa008301.64231532
31Selenocompound metabolism_Homo sapiens_hsa004501.59604909
322-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.58054820
33Sulfur metabolism_Homo sapiens_hsa009201.56974545
34Staphylococcus aureus infection_Homo sapiens_hsa051501.56208161
35Phenylalanine metabolism_Homo sapiens_hsa003601.52723737
36* Bile secretion_Homo sapiens_hsa049761.51510284
37Pyruvate metabolism_Homo sapiens_hsa006201.46354559
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.42311429
39Starch and sucrose metabolism_Homo sapiens_hsa005001.36449715
40Tyrosine metabolism_Homo sapiens_hsa003501.36431338
41Folate biosynthesis_Homo sapiens_hsa007901.26907706
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.26423969
43Fatty acid elongation_Homo sapiens_hsa000621.24789996
44Fat digestion and absorption_Homo sapiens_hsa049751.23871638
45Cyanoamino acid metabolism_Homo sapiens_hsa004601.20959317
46Maturity onset diabetes of the young_Homo sapiens_hsa049501.20019157
47ABC transporters_Homo sapiens_hsa020101.18134491
48Biosynthesis of amino acids_Homo sapiens_hsa012301.17296640
49Carbon metabolism_Homo sapiens_hsa012001.17110131
50Steroid biosynthesis_Homo sapiens_hsa001001.12537538
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11040208
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07887817
53Vitamin digestion and absorption_Homo sapiens_hsa049771.02097515
54Arginine and proline metabolism_Homo sapiens_hsa003301.01880743
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.91953395
56Sulfur relay system_Homo sapiens_hsa041220.89265665
57Lysine degradation_Homo sapiens_hsa003100.85231797
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.84703075
59Vitamin B6 metabolism_Homo sapiens_hsa007500.82109124
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76202824
61Glutathione metabolism_Homo sapiens_hsa004800.74816051
62Glycerolipid metabolism_Homo sapiens_hsa005610.73813933
63One carbon pool by folate_Homo sapiens_hsa006700.66754194
64Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.66154029
65Pentose phosphate pathway_Homo sapiens_hsa000300.60248267
66Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49991010
67Metabolic pathways_Homo sapiens_hsa011000.47962362
68Fatty acid biosynthesis_Homo sapiens_hsa000610.41968509
69Other glycan degradation_Homo sapiens_hsa005110.39002830
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37809087
71Pertussis_Homo sapiens_hsa051330.36527648
72Fructose and mannose metabolism_Homo sapiens_hsa000510.35538759
73Galactose metabolism_Homo sapiens_hsa000520.33544189
74alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32340699
75Prion diseases_Homo sapiens_hsa050200.30595639
76Sphingolipid metabolism_Homo sapiens_hsa006000.27039659
77Linoleic acid metabolism_Homo sapiens_hsa005910.24972683
78Insulin resistance_Homo sapiens_hsa049310.22958674
79Adipocytokine signaling pathway_Homo sapiens_hsa049200.20325966
80Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17808434
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.16014449
82Glucagon signaling pathway_Homo sapiens_hsa049220.09116822
83Pancreatic secretion_Homo sapiens_hsa049720.06949523
84AMPK signaling pathway_Homo sapiens_hsa041520.01842572
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00218259
86Ether lipid metabolism_Homo sapiens_hsa00565-0.2373097
87Bladder cancer_Homo sapiens_hsa05219-0.2096645
88Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2022596
89African trypanosomiasis_Homo sapiens_hsa05143-0.1960327
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1832360
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1810149
92Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1672897
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1649181
94Hepatitis C_Homo sapiens_hsa05160-0.1445218
95Regulation of autophagy_Homo sapiens_hsa04140-0.1291894
96Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1252118
97Protein digestion and absorption_Homo sapiens_hsa04974-0.1221728
98Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1158474
99Insulin signaling pathway_Homo sapiens_hsa04910-0.1141693
100N-Glycan biosynthesis_Homo sapiens_hsa00510-0.1021119
101Serotonergic synapse_Homo sapiens_hsa04726-0.0939965
102Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0897631
103Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0896396
104Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0867183
105Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0857231
106Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0811603
107Amoebiasis_Homo sapiens_hsa05146-0.0609758
108Mineral absorption_Homo sapiens_hsa04978-0.0387445
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0280475
110Asthma_Homo sapiens_hsa05310-0.0179004
111Renin-angiotensin system_Homo sapiens_hsa04614-0.0157998

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