ABCG8

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 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)8.44023997
2omega-hydroxylase P450 pathway (GO:0097267)7.88003497
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.37400383
4L-phenylalanine catabolic process (GO:0006559)7.37400383
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.05453756
6L-phenylalanine metabolic process (GO:0006558)7.05453756
7aromatic amino acid family catabolic process (GO:0009074)6.64040108
8triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.62214578
9tryptophan catabolic process (GO:0006569)6.00293274
10indole-containing compound catabolic process (GO:0042436)6.00293274
11indolalkylamine catabolic process (GO:0046218)6.00293274
12kynurenine metabolic process (GO:0070189)5.89925751
13bile acid biosynthetic process (GO:0006699)5.80474802
14urea cycle (GO:0000050)5.69871935
15urea metabolic process (GO:0019627)5.69871935
16high-density lipoprotein particle remodeling (GO:0034375)5.68124847
17tryptophan metabolic process (GO:0006568)5.64960503
18alpha-linolenic acid metabolic process (GO:0036109)5.64108388
19glyoxylate metabolic process (GO:0046487)5.57297206
20oxidative demethylation (GO:0070989)5.49381009
21negative regulation of fibrinolysis (GO:0051918)5.36391608
22cysteine metabolic process (GO:0006534)5.29645428
23nitrogen cycle metabolic process (GO:0071941)5.23114143
24protein carboxylation (GO:0018214)5.18885588
25peptidyl-glutamic acid carboxylation (GO:0017187)5.18885588
26regulation of fibrinolysis (GO:0051917)5.18792609
27sulfur amino acid catabolic process (GO:0000098)5.18147891
28regulation of cholesterol esterification (GO:0010872)5.17770743
29regulation of plasminogen activation (GO:0010755)5.16018326
30complement activation, alternative pathway (GO:0006957)5.08472307
31regulation of protein activation cascade (GO:2000257)5.07078812
32bile acid metabolic process (GO:0008206)5.06097415
33regulation of triglyceride catabolic process (GO:0010896)5.05150119
34reverse cholesterol transport (GO:0043691)5.00118765
35serine family amino acid catabolic process (GO:0009071)4.96477869
36ethanol metabolic process (GO:0006067)4.93661785
37plasma lipoprotein particle remodeling (GO:0034369)4.88792442
38protein-lipid complex remodeling (GO:0034368)4.88792442
39macromolecular complex remodeling (GO:0034367)4.88792442
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.88106573
41phospholipid efflux (GO:0033700)4.87026149
42aromatic amino acid family metabolic process (GO:0009072)4.82163888
43homocysteine metabolic process (GO:0050667)4.75738845
44negative regulation of blood coagulation (GO:0030195)4.75560626
45negative regulation of hemostasis (GO:1900047)4.75560626
46regulation of complement activation (GO:0030449)4.73741622
47phenylpropanoid metabolic process (GO:0009698)4.69452208
48triglyceride homeostasis (GO:0070328)4.67805611
49acylglycerol homeostasis (GO:0055090)4.67805611
50tyrosine metabolic process (GO:0006570)4.65597092
51protein activation cascade (GO:0072376)4.63344904
52amino-acid betaine metabolic process (GO:0006577)4.56917665
53bile acid and bile salt transport (GO:0015721)4.55161904
54lysine catabolic process (GO:0006554)4.53341035
55lysine metabolic process (GO:0006553)4.53341035
56alpha-amino acid catabolic process (GO:1901606)4.51804442
57plasma lipoprotein particle clearance (GO:0034381)4.39107030
58* negative regulation of sterol transport (GO:0032372)4.38610156
59* negative regulation of cholesterol transport (GO:0032375)4.38610156
60cellular ketone body metabolic process (GO:0046950)4.38587240
61S-adenosylmethionine metabolic process (GO:0046500)4.37339900
62acute-phase response (GO:0006953)4.37147399
63fat-soluble vitamin biosynthetic process (GO:0042362)4.36771287
64drug catabolic process (GO:0042737)4.35332372
65alkaloid metabolic process (GO:0009820)4.34907837
66cellular glucuronidation (GO:0052695)4.33695886
67negative regulation of coagulation (GO:0050819)4.32908979
68plasma lipoprotein particle assembly (GO:0034377)4.29079529
69coenzyme catabolic process (GO:0009109)4.28067777
70* cholesterol efflux (GO:0033344)4.27317948
71regulation of humoral immune response (GO:0002920)4.25505682
72indolalkylamine metabolic process (GO:0006586)4.25145845
73glycine metabolic process (GO:0006544)4.24456438
74negative regulation of wound healing (GO:0061045)4.24317777
75imidazole-containing compound metabolic process (GO:0052803)4.22448477
76glutamate metabolic process (GO:0006536)4.19265107
77cellular amino acid catabolic process (GO:0009063)4.15794551
78cellular biogenic amine catabolic process (GO:0042402)4.14997559
79amine catabolic process (GO:0009310)4.14997559
80regulation of bile acid biosynthetic process (GO:0070857)4.09251363
81positive regulation of lipoprotein lipase activity (GO:0051006)4.07507079
82positive regulation of triglyceride lipase activity (GO:0061365)4.07507079
83benzene-containing compound metabolic process (GO:0042537)4.06051338
84serine family amino acid metabolic process (GO:0009069)4.05658388
85negative regulation of protein activation cascade (GO:2000258)4.04136844
86very-low-density lipoprotein particle assembly (GO:0034379)4.02621504
87positive regulation of hemostasis (GO:1900048)4.02092976
88positive regulation of blood coagulation (GO:0030194)4.02092976
89hormone catabolic process (GO:0042447)4.00635743
90ethanol oxidation (GO:0006069)4.00490335
91low-density lipoprotein particle remodeling (GO:0034374)4.00001453
92arginine metabolic process (GO:0006525)3.98684710
93cellular modified amino acid catabolic process (GO:0042219)3.98458859
94serine family amino acid biosynthetic process (GO:0009070)3.93488800
95dicarboxylic acid biosynthetic process (GO:0043650)3.90440331
96positive regulation of lipid catabolic process (GO:0050996)3.88153766
97protein-lipid complex assembly (GO:0065005)3.86559482
98* cholesterol homeostasis (GO:0042632)3.86037074
99uronic acid metabolic process (GO:0006063)3.84708678
100glucuronate metabolic process (GO:0019585)3.84708678
101flavonoid metabolic process (GO:0009812)3.84333972
102fibrinolysis (GO:0042730)3.83636508
103aldehyde catabolic process (GO:0046185)3.82737594
104phospholipid homeostasis (GO:0055091)3.81077852
105regulation of cholesterol homeostasis (GO:2000188)3.80073303
106* sterol homeostasis (GO:0055092)3.79603718
107ketone body metabolic process (GO:1902224)3.79379415
108positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.77794331
109plasma lipoprotein particle organization (GO:0071827)3.77077900
110response to mercury ion (GO:0046689)3.72551000
111positive regulation of coagulation (GO:0050820)3.72449432
112negative regulation of lipase activity (GO:0060192)3.71817911
113lipoprotein metabolic process (GO:0042157)3.69404434
114cofactor catabolic process (GO:0051187)3.68676409
115cytolysis (GO:0019835)3.67692514
116carboxylic acid catabolic process (GO:0046395)3.67249625
117organic acid catabolic process (GO:0016054)3.67249625
118blood coagulation, intrinsic pathway (GO:0007597)3.66772539
119heme transport (GO:0015886)3.66743681
120killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.66541974
121disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.66541974
122exogenous drug catabolic process (GO:0042738)3.62380140
123short-chain fatty acid metabolic process (GO:0046459)3.62023453
124complement activation, classical pathway (GO:0006958)3.60727054
125acetyl-CoA metabolic process (GO:0006084)3.59516552
126drug metabolic process (GO:0017144)3.57389536
127complement activation (GO:0006956)3.57058164
128opsonization (GO:0008228)3.52593136
129xenobiotic metabolic process (GO:0006805)3.50185513
130regulation of apoptotic cell clearance (GO:2000425)3.45086493
131drug transmembrane transport (GO:0006855)3.43513801
132positive regulation of fatty acid biosynthetic process (GO:0045723)3.42810880

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.31177623
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.18155369
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.92880037
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.49024377
5* FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.11000177
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.95993163
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.77235072
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.03069746
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.85080868
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.14181883
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.07784263
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.05170676
13* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.7017660
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89651861
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.65116996
16CLOCK_20551151_ChIP-Seq_293T_Human1.54054414
17HTT_18923047_ChIP-ChIP_STHdh_Human1.53759921
18GATA1_22025678_ChIP-Seq_K562_Human1.52416257
19HNF4A_19822575_ChIP-Seq_HepG2_Human1.47360544
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29578799
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.27277814
22SOX2_27498859_Chip-Seq_STOMACH_Mouse1.17751910
23TRIM28_21343339_ChIP-Seq_HEK293_Human1.16521962
24RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15842530
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.14614990
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.11013177
27CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.09002550
28ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06943527
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.05204631
30GATA4_25053715_ChIP-Seq_YYC3_Human1.02127054
31ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97589351
32PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95456070
33CDX2_20551321_ChIP-Seq_CACO-2_Human0.86266875
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.85957456
35PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84808905
36IRF8_22096565_ChIP-ChIP_GC-B_Human0.84808882
37BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82906087
38FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81319327
39KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80413301
40AUTS2_25519132_ChIP-Seq_293T-REX_Human0.80300827
41RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78594319
42ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.76478614
43RARA_24833708_ChIP-Seq_LIVER_Mouse0.75963790
44Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.75270838
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74917928
46SOX2_21211035_ChIP-Seq_LN229_Human0.74076894
47CDX2_19796622_ChIP-Seq_MESCs_Mouse0.73418156
48AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73210326
49TCF4_18268006_ChIP-ChIP_LS174T_Human0.73015550
50ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.72564548
51ESR2_21235772_ChIP-Seq_MCF-7_Human0.71906479
52SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71618444
53ZNF263_19887448_ChIP-Seq_K562_Human0.69740373
54SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69624490
55NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.68419806
56CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.68418769
57SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.66797409
58IRF1_19129219_ChIP-ChIP_H3396_Human0.65883184
59* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.65514602
60RAC3_21632823_ChIP-Seq_H3396_Human0.64885227
61PCGF2_27294783_Chip-Seq_NPCs_Mouse0.64042193
62NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.63041423
63RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62502747
64RARB_24833708_ChIP-Seq_LIVER_Mouse0.62457607
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.62281159
66NRF2_20460467_ChIP-Seq_MEFs_Mouse0.62281159
67HNFA_21074721_ChIP-Seq_CACO-2_Human0.62120676
68DNAJC2_21179169_ChIP-ChIP_NT2_Human0.61816872
69NFE2_27457419_Chip-Seq_LIVER_Mouse0.61562069
70BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61083928
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.60615284
72ETV2_25802403_ChIP-Seq_MESCs_Mouse0.60186102
73GATA6_25053715_ChIP-Seq_YYC3_Human0.59140684
74CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.57378240
75FOXA1_25552417_ChIP-Seq_VCAP_Human0.56708518
76PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.56683907
77LXR_22292898_ChIP-Seq_THP-1_Human0.56534048
78TP53_18474530_ChIP-ChIP_U2OS_Human0.56511686
79* CEBPB_22108803_ChIP-Seq_LS180_Human0.56348185
80EGR1_19032775_ChIP-ChIP_M12_Human0.56163262
81FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.56028703
82CTCF_27219007_Chip-Seq_Bcells_Human0.55701617
83SMC4_20622854_ChIP-Seq_HELA_Human0.54314050
84STAT1_17558387_ChIP-Seq_HELA_Human0.54017014
85GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.53966548
86MYC_19915707_ChIP-ChIP_AK7_Human0.53934322
87PPAR_26484153_Chip-Seq_NCI-H1993_Human0.53900306
88AR_20517297_ChIP-Seq_VCAP_Human0.52988339
89FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.52271463
90PHF8_20622853_ChIP-Seq_HELA_Human0.51657012
91MYC_19829295_ChIP-Seq_ESCs_Human0.51185962
92STAT3_1855785_ChIP-Seq_MESCs_Mouse0.50707441
93NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.50703848
94ESET_19884257_ChIP-Seq_ESCs_Mouse0.50678988
95CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.50340503
96CTCF_20526341_ChIP-Seq_ESCs_Human0.50109452
97EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.49958031
98FOXO3_23340844_ChIP-Seq_DLD1_Human0.49899242
99E2F1_20622854_ChIP-Seq_HELA_Human0.49579549
100PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.49579150
101CBP_21632823_ChIP-Seq_H3396_Human0.49546423
102GATA2_19941826_ChIP-Seq_K562_Human0.48574248
103P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.48557181
104SPI1_20517297_ChIP-Seq_HL60_Human0.48006504
105SOX2_20726797_ChIP-Seq_SW620_Human0.47829304
106FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.47738312
107P53_21459846_ChIP-Seq_SAOS-2_Human0.47455995
108ESR1_21235772_ChIP-Seq_MCF-7_Human0.46565918
109PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.45661669
110GATA1_19941826_ChIP-Seq_K562_Human0.45126106
111PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44525503
112GATA1_19941827_ChIP-Seq_MEL_Mouse0.44475396
113CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.44241853
114ESR1_20079471_ChIP-ChIP_T-47D_Human0.43653889
115TAF2_19829295_ChIP-Seq_ESCs_Human0.42849819
116BCAT_22108803_ChIP-Seq_LS180_Human0.42726300
117* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40687888
118SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38532111
119MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.38014024
120MYC_27129775_Chip-Seq_CORNEA_Mouse0.37741695
121LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.37741069
122CDX2_22108803_ChIP-Seq_LS180_Human0.37584553
123EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.37543865
124TAF15_26573619_Chip-Seq_HEK293_Human0.37373401
125ERG_21242973_ChIP-ChIP_JURKAT_Human0.36128168
126SPI1_26923725_Chip-Seq_HPCs_Mouse0.36078999
127GATA3_24758297_ChIP-Seq_MCF-7_Human0.36064398
128NCOR_22424771_ChIP-Seq_293T_Human0.35862160
129CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.35642349
130ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.34822904

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis8.20018015
2* MP0002139_abnormal_hepatobiliary_system7.56932375
3* MP0005085_abnormal_gallbladder_physiolo6.30532359
4MP0005365_abnormal_bile_salt6.14658942
5MP0008875_abnormal_xenobiotic_pharmacok5.30847196
6MP0003806_abnormal_nucleotide_metabolis4.15236671
7MP0003252_abnormal_bile_duct4.14866354
8MP0010329_abnormal_lipoprotein_level3.69038900
9MP0009840_abnormal_foam_cell3.53922448
10MP0005083_abnormal_biliary_tract2.93868368
11* MP0001666_abnormal_nutrient_absorption2.91622173
12MP0005332_abnormal_amino_acid2.73609316
13MP0003195_calcinosis2.67206204
14MP0003191_abnormal_cellular_cholesterol2.27827228
15MP0004019_abnormal_vitamin_homeostasis2.20274110
16MP0000609_abnormal_liver_physiology2.16743137
17* MP0002118_abnormal_lipid_homeostasis2.09600282
18MP0003868_abnormal_feces_composition1.88294240
19MP0002138_abnormal_hepatobiliary_system1.84277626
20MP0005319_abnormal_enzyme/_coenzyme1.80846383
21MP0009697_abnormal_copulation1.72720457
22MP0001764_abnormal_homeostasis1.65789000
23MP0005584_abnormal_enzyme/coenzyme_acti1.53791523
24MP0005451_abnormal_body_composition1.48775832
25MP0003656_abnormal_erythrocyte_physiolo1.26653219
26MP0003011_delayed_dark_adaptation1.25457969
27MP0009643_abnormal_urine_homeostasis1.25327605
28MP0003705_abnormal_hypodermis_morpholog1.22201964
29MP0000598_abnormal_liver_morphology1.15340262
30MP0003186_abnormal_redox_activity1.13243214
31MP0002254_reproductive_system_inflammat1.11583694
32MP0005647_abnormal_sex_gland1.05787534
33MP0000604_amyloidosis1.05601892
34MP0009764_decreased_sensitivity_to1.03570578
35MP0002132_abnormal_respiratory_system0.99853215
36MP0009763_increased_sensitivity_to0.97316602
37MP0003879_abnormal_hair_cell0.95230029
38MP0005084_abnormal_gallbladder_morpholo0.92002005
39MP0005636_abnormal_mineral_homeostasis0.90252239
40* MP0009642_abnormal_blood_homeostasis0.86877749
41MP0008469_abnormal_protein_level0.86260699
42MP0010368_abnormal_lymphatic_system0.84494812
43MP0005408_hypopigmentation0.82856850
44MP0002876_abnormal_thyroid_physiology0.82363895
45MP0005376_homeostasis/metabolism_phenot0.81198764
46MP0009765_abnormal_xenobiotic_induced0.80133960
47MP0002078_abnormal_glucose_homeostasis0.77297146
48MP0006036_abnormal_mitochondrial_physio0.76676539
49MP0001915_intracranial_hemorrhage0.74370233
50MP0005670_abnormal_white_adipose0.72733771
51MP0002971_abnormal_brown_adipose0.72474989
52MP0005266_abnormal_metabolism0.70966922
53MP0009053_abnormal_anal_canal0.69737389
54MP0005334_abnormal_fat_pad0.69248241
55MP0005448_abnormal_energy_balance0.67312916
56MP0002822_catalepsy0.67206705
57MP0003183_abnormal_peptide_metabolism0.66465001
58MP0005220_abnormal_exocrine_pancreas0.64954810
59MP0005535_abnormal_body_temperature0.63696326
60MP0004130_abnormal_muscle_cell0.62756611
61MP0003690_abnormal_glial_cell0.61847161
62MP0003329_amyloid_beta_deposits0.60256813
63MP0000566_synostosis0.59927940
64MP0001756_abnormal_urination0.57448914
65MP0001661_extended_life_span0.57351781
66MP0000639_abnormal_adrenal_gland0.55547033
67MP0002249_abnormal_larynx_morphology0.55149841
68MP0006035_abnormal_mitochondrial_morpho0.54558086
69MP0005058_abnormal_lysosome_morphology0.54366416
70MP0002282_abnormal_trachea_morphology0.53828112
71MP0005464_abnormal_platelet_physiology0.52987339
72MP0002089_abnormal_postnatal_growth/wei0.52175695
73MP0003718_maternal_effect0.52087485
74MP0002168_other_aberrant_phenotype0.51425759
75MP0003638_abnormal_response/metabolism_0.49645076
76MP0005023_abnormal_wound_healing0.48943145
77MP0002136_abnormal_kidney_physiology0.47757363
78MP0005395_other_phenotype0.46749926
79MP0008872_abnormal_physiological_respon0.45576023
80MP0008873_increased_physiological_sensi0.45232666
81MP0004264_abnormal_extraembryonic_tissu0.45107183
82MP0008874_decreased_physiological_sensi0.44536017
83MP0010234_abnormal_vibrissa_follicle0.42766739
84MP0004782_abnormal_surfactant_physiolog0.42312889
85MP0003953_abnormal_hormone_level0.41486434
86MP0005187_abnormal_penis_morphology0.41390929
87MP0005166_decreased_susceptibility_to0.40203106
88MP0002796_impaired_skin_barrier0.40132061
89MP0005409_darkened_coat_color0.39673731
90MP0005248_abnormal_Harderian_gland0.39621069
91MP0003436_decreased_susceptibility_to0.39603783
92MP0009785_altered_susceptibility_to0.39093409
93MP0002928_abnormal_bile_duct0.38082549
94MP0005666_abnormal_adipose_tissue0.37778654
95MP0003075_altered_response_to0.36576328
96MP0009115_abnormal_fat_cell0.36171343
97MP0003724_increased_susceptibility_to0.35970268
98MP0000579_abnormal_nail_morphology0.35814721
99MP0009384_cardiac_valve_regurgitation0.35114312
100MP0005164_abnormal_response_to0.34051854
101MP0000230_abnormal_systemic_arterial0.33544699
102MP0000249_abnormal_blood_vessel0.32482715
103MP0009672_abnormal_birth_weight0.31516731
104MP0001243_abnormal_dermal_layer0.30379599
105MP0006082_CNS_inflammation0.30350346
106MP0002837_dystrophic_cardiac_calcinosis0.30310736
107MP0001881_abnormal_mammary_gland0.29746664
108MP0004381_abnormal_hair_follicle0.29305243
109MP0004883_abnormal_blood_vessel0.28998551
110MP0010155_abnormal_intestine_physiology0.28215144
111MP0004043_abnormal_pH_regulation0.28042666
112MP0001845_abnormal_inflammatory_respons0.27878492
113MP0002970_abnormal_white_adipose0.27666529
114MP0001853_heart_inflammation0.27345105
115MP0000538_abnormal_urinary_bladder0.26570106
116MP0005167_abnormal_blood-brain_barrier0.25655039
117MP0000467_abnormal_esophagus_morphology0.24691123
118MP0003632_abnormal_nervous_system0.19688408
119MP0001851_eye_inflammation0.18730051
120MP0003959_abnormal_lean_body0.18270925
121MP0004142_abnormal_muscle_tone0.17382367
122MP0002135_abnormal_kidney_morphology0.17375858

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.32839143
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.27678521
3Deep venous thrombosis (HP:0002625)7.24108355
4Hypobetalipoproteinemia (HP:0003563)6.87446028
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71643428
6Prolonged partial thromboplastin time (HP:0003645)6.41934258
7Xanthomatosis (HP:0000991)6.33397838
8Hyperlipoproteinemia (HP:0010980)5.43939442
9Complement deficiency (HP:0004431)5.12010481
10Hypolipoproteinemia (HP:0010981)5.01877145
11Epidermoid cyst (HP:0200040)4.61471283
12Hyperammonemia (HP:0001987)4.61210402
13Joint hemorrhage (HP:0005261)4.59015272
14Abnormality of glutamine family amino acid metabolism (HP:0010902)4.56523429
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.54261650
16Fat malabsorption (HP:0002630)4.35110282
17Abnormality of the common coagulation pathway (HP:0010990)4.31663295
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.30823119
19Hyperglycinemia (HP:0002154)4.30259091
20Ketosis (HP:0001946)4.21526123
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.21069738
22Hypoalphalipoproteinemia (HP:0003233)4.18941396
23Conjugated hyperbilirubinemia (HP:0002908)4.14331764
24Abnormality of methionine metabolism (HP:0010901)4.13777416
25Hyperglycinuria (HP:0003108)4.08663714
26Abnormality of serine family amino acid metabolism (HP:0010894)4.00227408
27Abnormality of glycine metabolism (HP:0010895)4.00227408
28Abnormality of pyrimidine metabolism (HP:0004353)3.82152063
29Hypoglycemic coma (HP:0001325)3.81574949
30Abnormality of complement system (HP:0005339)3.73190354
31Abnormality of the intrinsic pathway (HP:0010989)3.67479724
32Hyperbilirubinemia (HP:0002904)3.41888945
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.40353832
34* Hypercholesterolemia (HP:0003124)3.35598104
35Abnormality of fatty-acid metabolism (HP:0004359)3.32091930
36Abnormality of nucleobase metabolism (HP:0010932)3.12981714
37Steatorrhea (HP:0002570)3.09574088
38Acanthocytosis (HP:0001927)3.07605178
39Delayed CNS myelination (HP:0002188)3.05813555
40Ketoacidosis (HP:0001993)3.00693410
41Abnormality of serum amino acid levels (HP:0003112)2.94585972
42Osteomalacia (HP:0002749)2.94288685
43Myocardial infarction (HP:0001658)2.93117583
44Hepatocellular carcinoma (HP:0001402)2.90554724
45Metabolic acidosis (HP:0001942)2.85752313
46Hypochromic microcytic anemia (HP:0004840)2.85654943
47Spontaneous abortion (HP:0005268)2.85159528
48Skin nodule (HP:0200036)2.82449283
49Abnormality of purine metabolism (HP:0004352)2.78396539
50Systemic lupus erythematosus (HP:0002725)2.68555183
51Malnutrition (HP:0004395)2.66594331
52Vascular calcification (HP:0004934)2.61473103
53Lethargy (HP:0001254)2.56765522
54Dicarboxylic aciduria (HP:0003215)2.55178273
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.55178273
56Purpura (HP:0000979)2.53019400
57Abnormal gallbladder physiology (HP:0012438)2.45291516
58Cholecystitis (HP:0001082)2.45291516
59Hypoglycemic seizures (HP:0002173)2.44334088
60Hyperphosphaturia (HP:0003109)2.43577702
61Spastic diplegia (HP:0001264)2.41810387
62Glomerulonephritis (HP:0000099)2.38383584
63Irritability (HP:0000737)2.34894021
64Gout (HP:0001997)2.33368462
65Mitral stenosis (HP:0001718)2.32374252
66Cardiovascular calcification (HP:0011915)2.31475268
67Cerebral edema (HP:0002181)2.30622009
68Amyloidosis (HP:0011034)2.27715171
69Abnormality of proline metabolism (HP:0010907)2.24946951
70Hydroxyprolinuria (HP:0003080)2.24946951
71Neonatal onset (HP:0003623)2.23169831
72Esophageal varix (HP:0002040)2.20025635
73Sensorimotor neuropathy (HP:0007141)2.19123837
74Pancreatitis (HP:0001733)2.18528833
75Late onset (HP:0003584)2.17971277
76Recurrent gram-negative bacterial infections (HP:0005420)2.16606562
77Abnormal urine phosphate concentration (HP:0012599)2.15221693
78Pulmonary embolism (HP:0002204)2.13693101
79Fair hair (HP:0002286)2.12079399
80Brushfield spots (HP:0001088)2.09802328
81Menorrhagia (HP:0000132)2.09240304
82Gingival bleeding (HP:0000225)2.08341821
83* Abnormal gallbladder morphology (HP:0012437)2.06252429
84Vomiting (HP:0002013)2.05759311
85Generalized aminoaciduria (HP:0002909)2.02580137
86Enlarged kidneys (HP:0000105)2.02141753
87Hemorrhage of the eye (HP:0011885)2.02011983
88Opisthotonus (HP:0002179)2.00643341
89Elevated alkaline phosphatase (HP:0003155)1.99760125
90Hyperinsulinemic hypoglycemia (HP:0000825)1.98859205
91Arthropathy (HP:0003040)1.98698292
92Rickets (HP:0002748)1.97095634
93Thrombophlebitis (HP:0004418)1.96819734
94* Cholelithiasis (HP:0001081)1.95374522
95Abnormality of the Achilles tendon (HP:0005109)1.94253573
96Bifid scrotum (HP:0000048)1.92832505
97Abnormality of vitamin metabolism (HP:0100508)1.90567848
98Abnormality of transition element cation homeostasis (HP:0011030)1.89793418
99Abnormal cartilage morphology (HP:0002763)1.89549007
100Joint swelling (HP:0001386)1.89439914
101Neonatal hypoglycemia (HP:0001998)1.88858569
102* Poikilocytosis (HP:0004447)1.88139143
103Reduced antithrombin III activity (HP:0001976)1.87656773
104Abnormality of iron homeostasis (HP:0011031)1.87302951
105Abnormality of alkaline phosphatase activity (HP:0004379)1.86778587
106Renal cortical cysts (HP:0000803)1.84342974
107Glycosuria (HP:0003076)1.83633446
108Abnormality of urine glucose concentration (HP:0011016)1.83633446
109Hypophosphatemic rickets (HP:0004912)1.83394021
110Elevated hepatic transaminases (HP:0002910)1.81413950
111Abnormal enzyme/coenzyme activity (HP:0012379)1.80188133
112Hyperglycemia (HP:0003074)1.77417312
113Hypophosphatemia (HP:0002148)1.77101685
114Nephritis (HP:0000123)1.76942192
115Alkalosis (HP:0001948)1.76295388
116Increased serum ferritin (HP:0003281)1.76196599
117Proximal tubulopathy (HP:0000114)1.75430366
118Abnormal tarsal ossification (HP:0008369)1.72332555
119Gangrene (HP:0100758)1.67685506
120Cerebral palsy (HP:0100021)1.64615682
121Epistaxis (HP:0000421)1.63207800
122Nephrolithiasis (HP:0000787)1.57544507
123Potter facies (HP:0002009)1.54896138
124Facial shape deformation (HP:0011334)1.54896138
125Widely patent fontanelles and sutures (HP:0004492)1.51684712

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.76080237
2SIK14.45357402
3FGFR44.40314970
4ERN14.34122934
5TAOK33.16384574
6ACVR1B2.94649300
7INSRR2.94073248
8ERBB42.72616542
9MST1R2.68070958
10FRK2.47666139
11MAP2K42.25646561
12PKN22.24109139
13PRPF4B2.02569612
14NTRK31.91207775
15MAPK111.85715094
16FLT31.82508215
17PTK61.74153650
18LATS11.72433595
19PIK3CG1.72212963
20TYK21.69300287
21TRIB31.63134721
22GRK61.56517902
23MAP3K101.40969127
24DAPK21.36561564
25ABL21.36057613
26MAP3K71.30965236
27FGFR21.26196349
28NEK91.25575207
29NLK1.22878130
30MAP3K121.21065115
31PRKAA21.20216663
32KDR1.18175506
33JAK21.15713397
34WNK41.13982837
35TBK11.13784011
36ERBB21.10190952
37KSR21.06349688
38MET1.02425817
39MAP2K30.98210854
40CDK120.96799715
41MAPK40.95964749
42RIPK10.95868738
43JAK10.94052423
44PINK10.93643407
45MAP3K140.92606383
46EPHB10.92430858
47PRKCZ0.92393050
48MAP3K110.87895117
49PDK20.87456956
50MAP3K30.86381906
51MAP2K60.85706677
52CDK60.80494980
53STK38L0.76163196
54IRAK30.75425372
55MAPK150.75248695
56CSK0.75244437
57PRKACG0.74784203
58AKT30.74568300
59EPHA30.73136246
60PRKG10.72849773
61DYRK1B0.72591522
62MUSK0.70511370
63MAPK120.70279949
64SGK4940.68849718
65PRKAA10.68291804
66CAMK2G0.66803795
67FER0.66659401
68PRKACA0.65435090
69PTK20.65325947
70GSK3A0.63323712
71CAMK1D0.62278982
72SGK30.61703859
73TIE10.58730308
74SGK10.58100192
75PDPK10.57688566
76PDGFRA0.56862563
77IKBKE0.55660397
78MYLK0.55217607
79FGFR30.53614652
80MAP2K20.52662882
81PRKCQ0.52506255
82SRC0.51563388
83ZAP700.51457519
84MAPK70.51396578
85GRK10.48831449
86TYRO30.48074369
87PBK0.47938442
88ICK0.46769567
89CSF1R0.46596735
90MAP2K10.46164498
91RPS6KA30.44835439
92EPHA40.44627155
93PRKG20.44360391
94BRSK20.43507465
95TAOK20.42288826
96MAP3K50.42109207
97MAP3K20.42078054
98IGF1R0.41918971
99RET0.41110256
100CSNK1D0.40869164
101TGFBR20.40109876
102NUAK10.39959746
103CSNK1G10.39191102
104CDK40.38143024
105CSNK1E0.38058889
106PRKCB0.37781850
107SGK20.36987425
108MAP3K130.36550963
109PDK10.36531886
110MAP3K10.36288515
111CAMKK20.35830057
112MELK0.35761210
113FGFR10.35553782
114CHUK0.34575387
115STK160.34520295
116MAPKAPK30.34194364
117MAPK30.33937368
118EPHA20.33921641
119PIK3CA0.33754029
120MTOR0.31578162
121BMX0.31275903
122EGFR0.30322455
123MAP3K60.29963752
124PRKCA0.29180872
125PRKACB0.29039317
126MAP3K90.27913423
127PRKCG0.27297410
128CAMK40.27266033
129EPHB20.25740648
130PDK30.23897350
131PDK40.23897350
132PAK30.21921333
133PKN10.21918725
134SGK2230.20847759

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.38167247
2Nitrogen metabolism_Homo sapiens_hsa009103.48875980
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.41238911
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.25028560
5Arginine biosynthesis_Homo sapiens_hsa002203.03720105
6Tryptophan metabolism_Homo sapiens_hsa003802.71466038
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.66271849
8Complement and coagulation cascades_Homo sapiens_hsa046102.60339639
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.54661711
10Fatty acid degradation_Homo sapiens_hsa000712.49598058
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.42929587
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.32784858
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.28857661
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.16735601
15Butanoate metabolism_Homo sapiens_hsa006502.11445389
16Peroxisome_Homo sapiens_hsa041462.03885223
17Caffeine metabolism_Homo sapiens_hsa002322.00041994
18Histidine metabolism_Homo sapiens_hsa003401.98240447
19Chemical carcinogenesis_Homo sapiens_hsa052041.94712905
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.93989209
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.92369224
22PPAR signaling pathway_Homo sapiens_hsa033201.91697923
23Propanoate metabolism_Homo sapiens_hsa006401.86153255
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.80710255
25Fatty acid metabolism_Homo sapiens_hsa012121.78312171
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.72968415
27Retinol metabolism_Homo sapiens_hsa008301.72345221
28beta-Alanine metabolism_Homo sapiens_hsa004101.71621927
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.66685977
30Staphylococcus aureus infection_Homo sapiens_hsa051501.64003902
31* Bile secretion_Homo sapiens_hsa049761.54335980
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54065918
33Selenocompound metabolism_Homo sapiens_hsa004501.53891509
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50960110
35Phenylalanine metabolism_Homo sapiens_hsa003601.50786678
36Starch and sucrose metabolism_Homo sapiens_hsa005001.47067885
37* Fat digestion and absorption_Homo sapiens_hsa049751.45869608
38Sulfur metabolism_Homo sapiens_hsa009201.41462719
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39925826
40Tyrosine metabolism_Homo sapiens_hsa003501.38049363
41Pyruvate metabolism_Homo sapiens_hsa006201.37248838
42Folate biosynthesis_Homo sapiens_hsa007901.36711836
43Fatty acid elongation_Homo sapiens_hsa000621.28261585
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.23967162
45Biosynthesis of amino acids_Homo sapiens_hsa012301.17171909
46Steroid biosynthesis_Homo sapiens_hsa001001.16877389
47Vitamin digestion and absorption_Homo sapiens_hsa049771.13682855
48* ABC transporters_Homo sapiens_hsa020101.11976532
49Carbon metabolism_Homo sapiens_hsa012001.11753905
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.10526265
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.03866999
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00232202
53Arginine and proline metabolism_Homo sapiens_hsa003301.00079165
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96668949
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95702394
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.92520500
57Sulfur relay system_Homo sapiens_hsa041220.87254637
58Vitamin B6 metabolism_Homo sapiens_hsa007500.83992432
59Lysine degradation_Homo sapiens_hsa003100.82236741
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.76640012
61Glycerolipid metabolism_Homo sapiens_hsa005610.76260651
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73374318
63Glutathione metabolism_Homo sapiens_hsa004800.70072425
64One carbon pool by folate_Homo sapiens_hsa006700.66954108
65Pentose phosphate pathway_Homo sapiens_hsa000300.57738826
66Fatty acid biosynthesis_Homo sapiens_hsa000610.53797253
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50514899
68Galactose metabolism_Homo sapiens_hsa000520.46551888
69Metabolic pathways_Homo sapiens_hsa011000.46056629
70Fructose and mannose metabolism_Homo sapiens_hsa000510.34909482
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29910651
72Prion diseases_Homo sapiens_hsa050200.28191650
73Pertussis_Homo sapiens_hsa051330.27349676
74Linoleic acid metabolism_Homo sapiens_hsa005910.26273295
75Insulin resistance_Homo sapiens_hsa049310.23365249
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.20680206
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.20514465
78Renin-angiotensin system_Homo sapiens_hsa046140.16263559
79Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.13673887
80Other glycan degradation_Homo sapiens_hsa005110.11132242
81Glucagon signaling pathway_Homo sapiens_hsa049220.07640288
82AMPK signaling pathway_Homo sapiens_hsa041520.01361849
83Mineral absorption_Homo sapiens_hsa049780.00923999
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.00833080
85Bladder cancer_Homo sapiens_hsa05219-0.2354224
86Ether lipid metabolism_Homo sapiens_hsa00565-0.2303304
87Type II diabetes mellitus_Homo sapiens_hsa04930-0.2261022
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2175993
89Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2017363
90N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2014211
91Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1973419
92Circadian rhythm_Homo sapiens_hsa04710-0.1898279
93Regulation of autophagy_Homo sapiens_hsa04140-0.1842466
94Hepatitis C_Homo sapiens_hsa05160-0.1579668
95Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1485770
96Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1472861
97Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1360068
98Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1291260
99Protein digestion and absorption_Homo sapiens_hsa04974-0.1194431
100African trypanosomiasis_Homo sapiens_hsa05143-0.1187105
101Amoebiasis_Homo sapiens_hsa05146-0.1123898
102Insulin signaling pathway_Homo sapiens_hsa04910-0.1113149
103Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0811044
104Serotonergic synapse_Homo sapiens_hsa04726-0.0733925
105Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0551360
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0078217
107Sphingolipid metabolism_Homo sapiens_hsa00600-0.0030646

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