RBP4

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 protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.66267996
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.66267996
3L-phenylalanine metabolic process (GO:0006558)7.31693886
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.31693886
5aromatic amino acid family catabolic process (GO:0009074)6.72887644
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.48523055
7exogenous drug catabolic process (GO:0042738)6.46911774
8epoxygenase P450 pathway (GO:0019373)6.05131267
9indole-containing compound catabolic process (GO:0042436)5.91371644
10indolalkylamine catabolic process (GO:0046218)5.91371644
11tryptophan catabolic process (GO:0006569)5.91371644
12kynurenine metabolic process (GO:0070189)5.82744782
13bile acid biosynthetic process (GO:0006699)5.77473741
14high-density lipoprotein particle remodeling (GO:0034375)5.70651300
15negative regulation of fibrinolysis (GO:0051918)5.69051719
16glyoxylate metabolic process (GO:0046487)5.66925373
17tryptophan metabolic process (GO:0006568)5.59567788
18omega-hydroxylase P450 pathway (GO:0097267)5.54892296
19alpha-linolenic acid metabolic process (GO:0036109)5.53429901
20urea cycle (GO:0000050)5.52200984
21urea metabolic process (GO:0019627)5.52200984
22regulation of fibrinolysis (GO:0051917)5.44652383
23sulfur amino acid catabolic process (GO:0000098)5.35783567
24peptidyl-glutamic acid carboxylation (GO:0017187)5.35479242
25protein carboxylation (GO:0018214)5.35479242
26cysteine metabolic process (GO:0006534)5.25723440
27complement activation, alternative pathway (GO:0006957)5.25080757
28regulation of protein activation cascade (GO:2000257)5.22256846
29nitrogen cycle metabolic process (GO:0071941)5.08274155
30reverse cholesterol transport (GO:0043691)5.05729564
31serine family amino acid catabolic process (GO:0009071)5.01631803
32regulation of cholesterol esterification (GO:0010872)5.00631541
33bile acid metabolic process (GO:0008206)4.97269937
34regulation of triglyceride catabolic process (GO:0010896)4.91987176
35aromatic amino acid family metabolic process (GO:0009072)4.88661715
36plasma lipoprotein particle remodeling (GO:0034369)4.87798691
37protein-lipid complex remodeling (GO:0034368)4.87798691
38macromolecular complex remodeling (GO:0034367)4.87798691
39regulation of complement activation (GO:0030449)4.87517363
40tyrosine metabolic process (GO:0006570)4.83527106
41fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.77866486
42triglyceride homeostasis (GO:0070328)4.75006514
43acylglycerol homeostasis (GO:0055090)4.75006514
44drug metabolic process (GO:0017144)4.73190393
45phospholipid efflux (GO:0033700)4.72118350
46phenylpropanoid metabolic process (GO:0009698)4.62625830
47intestinal cholesterol absorption (GO:0030299)4.60988021
48homocysteine metabolic process (GO:0050667)4.57217394
49alpha-amino acid catabolic process (GO:1901606)4.55150065
50plasma lipoprotein particle clearance (GO:0034381)4.53977849
51negative regulation of cholesterol transport (GO:0032375)4.52998124
52negative regulation of sterol transport (GO:0032372)4.52998124
53amino-acid betaine metabolic process (GO:0006577)4.52969712
54lysine catabolic process (GO:0006554)4.48528772
55lysine metabolic process (GO:0006553)4.48528772
56cellular ketone body metabolic process (GO:0046950)4.42957137
57ethanol metabolic process (GO:0006067)4.41547840
58negative regulation of hemostasis (GO:1900047)4.40021172
59negative regulation of blood coagulation (GO:0030195)4.40021172
60oxidative demethylation (GO:0070989)4.34513324
61cholesterol efflux (GO:0033344)4.29328947
62coenzyme catabolic process (GO:0009109)4.25979813
63bile acid and bile salt transport (GO:0015721)4.25299233
64acute-phase response (GO:0006953)4.24896020
65glycine metabolic process (GO:0006544)4.24447311
66indolalkylamine metabolic process (GO:0006586)4.21770391
67cellular amino acid catabolic process (GO:0009063)4.19718987
68imidazole-containing compound metabolic process (GO:0052803)4.19351995
69negative regulation of protein activation cascade (GO:2000258)4.16306355
70glutamate metabolic process (GO:0006536)4.13765643
71positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.13516310
72cellular biogenic amine catabolic process (GO:0042402)4.10732839
73amine catabolic process (GO:0009310)4.10732839
74plasma lipoprotein particle assembly (GO:0034377)4.10155272
75cellular glucuronidation (GO:0052695)4.05819162
76serine family amino acid metabolic process (GO:0009069)4.04234394
77negative regulation of coagulation (GO:0050819)4.03809150
78fibrinolysis (GO:0042730)4.01230927
79benzene-containing compound metabolic process (GO:0042537)3.97645230
80negative regulation of wound healing (GO:0061045)3.96810697
81cellular modified amino acid catabolic process (GO:0042219)3.95386737
82aldehyde catabolic process (GO:0046185)3.95270084
83arginine metabolic process (GO:0006525)3.93315568
84low-density lipoprotein particle remodeling (GO:0034374)3.92798405
85protein-lipid complex subunit organization (GO:0071825)3.90802446
86positive regulation of triglyceride lipase activity (GO:0061365)3.90038607
87positive regulation of lipoprotein lipase activity (GO:0051006)3.90038607
88dicarboxylic acid biosynthetic process (GO:0043650)3.89821988
89ethanol oxidation (GO:0006069)3.88744150
90negative regulation of lipase activity (GO:0060192)3.84658209
91blood coagulation, intrinsic pathway (GO:0007597)3.83414022
92ketone body metabolic process (GO:1902224)3.83085536
93drug catabolic process (GO:0042737)3.82385330
94serine family amino acid biosynthetic process (GO:0009070)3.82092283
95positive regulation of lipid catabolic process (GO:0050996)3.79649416
96positive regulation of hemostasis (GO:1900048)3.79301948
97positive regulation of blood coagulation (GO:0030194)3.79301948
98regulation of humoral immune response (GO:0002920)3.79296670
99acylglycerol catabolic process (GO:0046464)3.77617717
100neutral lipid catabolic process (GO:0046461)3.77617717
101phospholipid homeostasis (GO:0055091)3.75387204
102cholesterol homeostasis (GO:0042632)3.75359370
103cofactor catabolic process (GO:0051187)3.74567272
104polyketide metabolic process (GO:0030638)3.73461379
105doxorubicin metabolic process (GO:0044598)3.73461379
106daunorubicin metabolic process (GO:0044597)3.73461379
107plasma lipoprotein particle organization (GO:0071827)3.72069839
108organic acid catabolic process (GO:0016054)3.70398860
109carboxylic acid catabolic process (GO:0046395)3.70398860
110sterol homeostasis (GO:0055092)3.69269918
111complement activation, classical pathway (GO:0006958)3.68810314
112protein-lipid complex assembly (GO:0065005)3.67200852
113very-low-density lipoprotein particle assembly (GO:0034379)3.67192911
114regulation of bile acid biosynthetic process (GO:0070857)3.65407648
115protein activation cascade (GO:0072376)3.65199045
116complement activation (GO:0006956)3.64538660
117regulation of cholesterol homeostasis (GO:2000188)3.63982539
118cytolysis (GO:0019835)3.61644522
119uronic acid metabolic process (GO:0006063)3.61196058
120glucuronate metabolic process (GO:0019585)3.61196058
121triglyceride catabolic process (GO:0019433)3.60395154
122short-chain fatty acid metabolic process (GO:0046459)3.60347799
123regulation of lipoprotein particle clearance (GO:0010984)3.58229316
124acetyl-CoA metabolic process (GO:0006084)3.56950376
125lipoprotein metabolic process (GO:0042157)3.53489808
126positive regulation of coagulation (GO:0050820)3.50890035
127regulation of plasminogen activation (GO:0010755)3.50582493
128positive regulation of fatty acid biosynthetic process (GO:0045723)3.48134687
129S-adenosylmethionine metabolic process (GO:0046500)3.46038533
130regulation of sterol transport (GO:0032371)3.36889187
131regulation of cholesterol transport (GO:0032374)3.36889187

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.34097958
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.13530643
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.84926916
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.46900457
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.28320779
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.14740744
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.06644543
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.99249470
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.98917881
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.11036374
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06565097
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.03994233
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8717636
14CLOCK_20551151_ChIP-Seq_293T_Human1.72392824
15GATA1_22025678_ChIP-Seq_K562_Human1.66576376
16* FOXA2_19822575_ChIP-Seq_HepG2_Human1.61140092
17HTT_18923047_ChIP-ChIP_STHdh_Human1.52106107
18TRIM28_21343339_ChIP-Seq_HEK293_Human1.48246669
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.46545276
20* HNF4A_19822575_ChIP-Seq_HepG2_Human1.39588778
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29712262
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.19965556
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18338558
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15247802
25ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09529306
26FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.06039673
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02874623
28ESR1_20079471_ChIP-ChIP_T-47D_Human1.02627585
29SOX2_27498859_Chip-Seq_STOMACH_Mouse1.01606847
30ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.96888449
31ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93225303
32RARG_19884340_ChIP-ChIP_MEFs_Mouse0.86468764
33IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.85539736
34GATA4_25053715_ChIP-Seq_YYC3_Human0.84397413
35IRF8_22096565_ChIP-ChIP_GC-B_Human0.81969588
36ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81563943
37PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81533112
38PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.80601235
39SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.80426593
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.79847335
41AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79408558
42MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.78817586
43RARA_24833708_ChIP-Seq_LIVER_Mouse0.78548967
44BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76402117
45TCF4_18268006_ChIP-ChIP_LS174T_Human0.75944855
46SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74685842
47CDX2_19796622_ChIP-Seq_MESCs_Mouse0.73873830
48KAP1_22055183_ChIP-Seq_ESCs_Mouse0.72954954
49SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71550616
50AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.69882264
51TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.69871647
52CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69414627
53RARB_24833708_ChIP-Seq_LIVER_Mouse0.68794362
54SOX2_21211035_ChIP-Seq_LN229_Human0.68705611
55ESR2_21235772_ChIP-Seq_MCF-7_Human0.65615682
56ZNF263_19887448_ChIP-Seq_K562_Human0.63806134
57NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63574607
58NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63574607
59NFE2_27457419_Chip-Seq_LIVER_Mouse0.63137151
60NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.62961767
61Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.62661130
62RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61783722
63RAC3_21632823_ChIP-Seq_H3396_Human0.61691519
64RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.61020153
65BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60891562
66FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.60029807
67HNFA_21074721_ChIP-Seq_CACO-2_Human0.59497071
68* FOXA1_25552417_ChIP-Seq_VCAP_Human0.59032411
69FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.59012593
70PIAS1_25552417_ChIP-Seq_VCAP_Human0.58946922
71PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.58563917
72NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.58488169
73LXR_22292898_ChIP-Seq_THP-1_Human0.58307959
74CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.58151796
75ETV2_25802403_ChIP-Seq_MESCs_Mouse0.56945573
76PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.56887229
77AR_20517297_ChIP-Seq_VCAP_Human0.56452522
78PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.56112865
79NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.55925171
80CDX2_22108803_ChIP-Seq_LS180_Human0.55022564
81CTCF_27219007_Chip-Seq_Bcells_Human0.54619232
82DNAJC2_21179169_ChIP-ChIP_NT2_Human0.54413468
83STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.53575825
84FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.53471267
85CEBPB_22108803_ChIP-Seq_LS180_Human0.53405224
86NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.51754750
87GATA1_19941826_ChIP-Seq_K562_Human0.51441915
88PHF8_20622853_ChIP-Seq_HELA_Human0.51235879
89PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.50640579
90JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.50400842
91ESR1_21235772_ChIP-Seq_MCF-7_Human0.50335792
92MYC_19915707_ChIP-ChIP_AK7_Human0.50232035
93PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.48891981
94SMAD1_18555785_Chip-Seq_ESCs_Mouse0.48067925
95P53_21459846_ChIP-Seq_SAOS-2_Human0.47946812
96EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.47799062
97STAT3_1855785_ChIP-Seq_MESCs_Mouse0.47742849
98GATA3_21867929_ChIP-Seq_CD8_Mouse0.46778500
99SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.46579162
100SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.46467653
101ESRRB_18555785_Chip-Seq_ESCs_Mouse0.46390096
102EZH2_27294783_Chip-Seq_NPCs_Mouse0.46204832
103PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.46021652
104ESET_19884257_ChIP-Seq_ESCs_Mouse0.45600416
105GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.45026813
106EGR1_19032775_ChIP-ChIP_M12_Human0.44425929
107* CBP_21632823_ChIP-Seq_H3396_Human0.43804062
108GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.43154396
109STAT1_17558387_ChIP-Seq_HELA_Human0.43127020
110GATA1_19941827_ChIP-Seq_MEL_Mouse0.42648695
111GATA6_25053715_ChIP-Seq_YYC3_Human0.41667277
112TAF2_19829295_ChIP-Seq_ESCs_Human0.41485300
113FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41145142
114GATA2_19941826_ChIP-Seq_K562_Human0.40910371
115FOXO3_23340844_ChIP-Seq_DLD1_Human0.40142406
116SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38222299
117* MYC_27129775_Chip-Seq_CORNEA_Mouse0.37269798
118GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.36639731
119SPI1_26923725_Chip-Seq_HPCs_Mouse0.36443919
120* SOX2_20726797_ChIP-Seq_SW620_Human0.36215733
121EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.36062266
122PPAR_26484153_Chip-Seq_NCI-H1993_Human0.35982507
123BCAT_22108803_ChIP-Seq_LS180_Human0.35760540
124CDX2_20551321_ChIP-Seq_CACO-2_Human0.35690098
125GATA3_24758297_ChIP-Seq_MCF-7_Human0.35578158
126LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35394645
127ERG_20517297_ChIP-Seq_VCAP_Human0.35164774
128ERG_21242973_ChIP-ChIP_JURKAT_Human0.35099422
129CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.35039040
130ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.34686571
131OCT4_20526341_ChIP-Seq_ESCs_Human0.34422407

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.17418472
2MP0005360_urolithiasis7.32103026
3MP0005085_abnormal_gallbladder_physiolo6.28567197
4MP0005365_abnormal_bile_salt6.25395002
5MP0008875_abnormal_xenobiotic_pharmacok5.04431358
6MP0003806_abnormal_nucleotide_metabolis4.13514051
7MP0003252_abnormal_bile_duct3.87900875
8MP0010329_abnormal_lipoprotein_level3.66620572
9MP0009840_abnormal_foam_cell3.37086020
10MP0003195_calcinosis3.11113292
11MP0005083_abnormal_biliary_tract3.01950492
12MP0005332_abnormal_amino_acid2.77446031
13MP0001666_abnormal_nutrient_absorption2.59175307
14MP0003191_abnormal_cellular_cholesterol2.41979623
15MP0000609_abnormal_liver_physiology2.18790380
16MP0002118_abnormal_lipid_homeostasis2.16505080
17MP0002138_abnormal_hepatobiliary_system2.06825174
18MP0003868_abnormal_feces_composition1.94140488
19* MP0004019_abnormal_vitamin_homeostasis1.92671276
20MP0005319_abnormal_enzyme/_coenzyme1.82412062
21MP0001764_abnormal_homeostasis1.75958295
22MP0009697_abnormal_copulation1.56407297
23MP0005584_abnormal_enzyme/coenzyme_acti1.55447739
24MP0005451_abnormal_body_composition1.37676257
25MP0003011_delayed_dark_adaptation1.37343162
26MP0009643_abnormal_urine_homeostasis1.32135367
27MP0003656_abnormal_erythrocyte_physiolo1.30698049
28MP0003186_abnormal_redox_activity1.26042409
29MP0000598_abnormal_liver_morphology1.18855031
30MP0003879_abnormal_hair_cell1.15959812
31MP0002132_abnormal_respiratory_system1.10390571
32MP0000604_amyloidosis1.08977013
33MP0003705_abnormal_hypodermis_morpholog1.08833684
34MP0005647_abnormal_sex_gland1.04980829
35MP0002909_abnormal_adrenal_gland1.04573705
36MP0005636_abnormal_mineral_homeostasis1.02817972
37MP0005084_abnormal_gallbladder_morpholo1.02672318
38MP0003122_maternal_imprinting1.01120182
39MP0010368_abnormal_lymphatic_system0.99101473
40MP0009763_increased_sensitivity_to0.98021097
41MP0002078_abnormal_glucose_homeostasis0.97231128
42MP0002254_reproductive_system_inflammat0.96566556
43MP0009764_decreased_sensitivity_to0.96016830
44MP0005670_abnormal_white_adipose0.95629338
45MP0005220_abnormal_exocrine_pancreas0.95587799
46MP0009642_abnormal_blood_homeostasis0.91076361
47MP0005408_hypopigmentation0.90977275
48MP0008469_abnormal_protein_level0.87842951
49MP0006036_abnormal_mitochondrial_physio0.87664909
50MP0002876_abnormal_thyroid_physiology0.86147367
51MP0002971_abnormal_brown_adipose0.80693278
52MP0005376_homeostasis/metabolism_phenot0.80303301
53MP0004130_abnormal_muscle_cell0.77871359
54MP0005334_abnormal_fat_pad0.77724347
55MP0000003_abnormal_adipose_tissue0.76525364
56MP0001756_abnormal_urination0.76354136
57MP0009780_abnormal_chondrocyte_physiolo0.75516990
58MP0002837_dystrophic_cardiac_calcinosis0.75336920
59MP0005535_abnormal_body_temperature0.73974354
60MP0001915_intracranial_hemorrhage0.73420597
61MP0009765_abnormal_xenobiotic_induced0.72826989
62MP0003172_abnormal_lysosome_physiology0.71567704
63MP0001661_extended_life_span0.71148571
64MP0000639_abnormal_adrenal_gland0.70197020
65MP0005164_abnormal_response_to0.63967530
66MP0005448_abnormal_energy_balance0.63830611
67MP0003329_amyloid_beta_deposits0.63675725
68MP0005266_abnormal_metabolism0.62991433
69MP0003690_abnormal_glial_cell0.62984725
70MP0009053_abnormal_anal_canal0.58526134
71MP0002928_abnormal_bile_duct0.57433839
72MP0003283_abnormal_digestive_organ0.56503182
73MP0005187_abnormal_penis_morphology0.56044576
74MP0004272_abnormal_basement_membrane0.53685127
75MP0003953_abnormal_hormone_level0.52759161
76MP0006035_abnormal_mitochondrial_morpho0.50004519
77MP0005464_abnormal_platelet_physiology0.49640193
78MP0005452_abnormal_adipose_tissue0.49346130
79MP0000566_synostosis0.49342011
80MP0003638_abnormal_response/metabolism_0.48360384
81MP0005666_abnormal_adipose_tissue0.47731812
82MP0001944_abnormal_pancreas_morphology0.47325774
83MP0002136_abnormal_kidney_physiology0.46991450
84MP0002822_catalepsy0.46719342
85MP0005395_other_phenotype0.46474419
86MP0002089_abnormal_postnatal_growth/wei0.44823996
87MP0004782_abnormal_surfactant_physiolog0.44662887
88MP0009672_abnormal_birth_weight0.44287098
89MP0003724_increased_susceptibility_to0.42665248
90MP0004264_abnormal_extraembryonic_tissu0.40659983
91MP0002970_abnormal_white_adipose0.40517900
92MP0008873_increased_physiological_sensi0.40020720
93MP0008874_decreased_physiological_sensi0.39661834
94MP0003959_abnormal_lean_body0.38895315
95MP0001986_abnormal_taste_sensitivity0.38867226
96MP0004185_abnormal_adipocyte_glucose0.38571724
97MP0000013_abnormal_adipose_tissue0.38441882
98MP0000230_abnormal_systemic_arterial0.37969972
99MP0005023_abnormal_wound_healing0.37783023
100MP0005167_abnormal_blood-brain_barrier0.37655975
101MP0009115_abnormal_fat_cell0.37654208
102MP0005058_abnormal_lysosome_morphology0.35830969
103MP0003436_decreased_susceptibility_to0.35547707
104MP0003075_altered_response_to0.35295673
105MP0003718_maternal_effect0.34860618
106MP0003633_abnormal_nervous_system0.34824467
107MP0002168_other_aberrant_phenotype0.34471232
108MP0008872_abnormal_physiological_respon0.33820241
109MP0001243_abnormal_dermal_layer0.33394073
110MP0005248_abnormal_Harderian_gland0.33370437
111MP0000249_abnormal_blood_vessel0.31738588
112MP0002796_impaired_skin_barrier0.30784742
113MP0004883_abnormal_blood_vessel0.30703938
114MP0004043_abnormal_pH_regulation0.30470300
115MP0002693_abnormal_pancreas_physiology0.30337048
116MP0005166_decreased_susceptibility_to0.30248662
117MP0001881_abnormal_mammary_gland0.29220064
118MP0003123_paternal_imprinting0.29176869
119MP0005379_endocrine/exocrine_gland_phen0.28155135
120MP0005375_adipose_tissue_phenotype0.27336446
121MP0001845_abnormal_inflammatory_respons0.26791416
122MP0002060_abnormal_skin_morphology0.26292225
123MP0005377_hearing/vestibular/ear_phenot0.26109027
124MP0003878_abnormal_ear_physiology0.26109027

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.62788904
2Deep venous thrombosis (HP:0002625)7.25244864
3Intrahepatic cholestasis (HP:0001406)7.00555025
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.48824364
5Prolonged partial thromboplastin time (HP:0003645)6.42667842
6Hypobetalipoproteinemia (HP:0003563)6.25261910
7Xanthomatosis (HP:0000991)6.20517940
8Hyperlipoproteinemia (HP:0010980)5.54633801
9Complement deficiency (HP:0004431)5.24118996
10Hypolipoproteinemia (HP:0010981)4.75990371
11Joint hemorrhage (HP:0005261)4.72569315
12Hyperammonemia (HP:0001987)4.52466814
13Hypoglycemic coma (HP:0001325)4.46241528
14Ketosis (HP:0001946)4.45385246
15Abnormality of the common coagulation pathway (HP:0010990)4.42733630
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.35598454
17Epidermoid cyst (HP:0200040)4.32121712
18Hyperglycinemia (HP:0002154)4.31542853
19Hypoalphalipoproteinemia (HP:0003233)4.23793544
20Abnormality of methionine metabolism (HP:0010901)4.13388664
21Abnormality of sulfur amino acid metabolism (HP:0004339)4.10006667
22Abnormality of glutamine family amino acid metabolism (HP:0010902)3.96222624
23Abnormality of aspartate family amino acid metabolism (HP:0010899)3.95580337
24Fat malabsorption (HP:0002630)3.93130075
25Hyperglycinuria (HP:0003108)3.87323601
26Abnormality of the intrinsic pathway (HP:0010989)3.86651987
27Abnormality of complement system (HP:0005339)3.82738921
28Abnormality of serine family amino acid metabolism (HP:0010894)3.82016301
29Abnormality of glycine metabolism (HP:0010895)3.82016301
30Abnormality of pyrimidine metabolism (HP:0004353)3.65996243
31Conjugated hyperbilirubinemia (HP:0002908)3.64224698
32Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.55750834
33Hypercholesterolemia (HP:0003124)3.55715832
34Abnormality of fatty-acid metabolism (HP:0004359)3.45275725
35Hyperbilirubinemia (HP:0002904)3.38523875
36Ketoacidosis (HP:0001993)3.35502715
37Hypoglycemic seizures (HP:0002173)3.09595055
38Nephritis (HP:0000123)3.07498597
39Abnormality of nucleobase metabolism (HP:0010932)3.00006301
40Delayed CNS myelination (HP:0002188)2.96570163
41Abnormality of serum amino acid levels (HP:0003112)2.95697107
42Hepatocellular carcinoma (HP:0001402)2.94449099
43Steatorrhea (HP:0002570)2.91716432
44Spontaneous abortion (HP:0005268)2.89621532
45Hypochromic microcytic anemia (HP:0004840)2.87721829
46Skin nodule (HP:0200036)2.81240171
47Myocardial infarction (HP:0001658)2.79318355
48Metabolic acidosis (HP:0001942)2.78902293
49Systemic lupus erythematosus (HP:0002725)2.72198703
50Abnormality of purine metabolism (HP:0004352)2.67011330
51Hyperinsulinemic hypoglycemia (HP:0000825)2.65725402
52Abnormality of dicarboxylic acid metabolism (HP:0010995)2.61860803
53Dicarboxylic aciduria (HP:0003215)2.61860803
54Lethargy (HP:0001254)2.58168167
55Abnormal gallbladder morphology (HP:0012437)2.55545994
56Late onset (HP:0003584)2.55047886
57Gout (HP:0001997)2.52778721
58Acanthocytosis (HP:0001927)2.48554429
59Mitral stenosis (HP:0001718)2.45659463
60Irritability (HP:0000737)2.42347770
61Cholecystitis (HP:0001082)2.41973928
62Abnormal gallbladder physiology (HP:0012438)2.41973928
63Cholelithiasis (HP:0001081)2.41109347
64Purpura (HP:0000979)2.40129038
65Vascular calcification (HP:0004934)2.39638491
66Glomerulonephritis (HP:0000099)2.37606680
67Cerebral edema (HP:0002181)2.37314761
68Hyperglycemia (HP:0003074)2.33756633
69Amyloidosis (HP:0011034)2.33212502
70Enlarged kidneys (HP:0000105)2.31328302
71Spastic diplegia (HP:0001264)2.28273609
72Arthropathy (HP:0003040)2.28209086
73Neonatal onset (HP:0003623)2.27636232
74Osteomalacia (HP:0002749)2.27217831
75Recurrent gram-negative bacterial infections (HP:0005420)2.25817973
76Brushfield spots (HP:0001088)2.25289837
77Generalized aminoaciduria (HP:0002909)2.25103185
78Pancreatitis (HP:0001733)2.19236451
79Hyperphosphaturia (HP:0003109)2.18932738
80Esophageal varix (HP:0002040)2.18061381
81Symptomatic seizures (HP:0011145)2.16497597
82Sensorimotor neuropathy (HP:0007141)2.15582397
83Glycosuria (HP:0003076)2.13281860
84Abnormality of urine glucose concentration (HP:0011016)2.13281860
85Pancreatic islet-cell hyperplasia (HP:0004510)2.12316326
86Cardiovascular calcification (HP:0011915)2.11776588
87Malnutrition (HP:0004395)2.11303477
88Gingival bleeding (HP:0000225)2.11232185
89Hypophosphatemic rickets (HP:0004912)2.08806719
90Menorrhagia (HP:0000132)2.08426088
91Vomiting (HP:0002013)2.07114066
92Abnormality of the gallbladder (HP:0005264)2.06547605
93Abnormality of the Achilles tendon (HP:0005109)2.04672077
94Opisthotonus (HP:0002179)2.01035364
95Reduced antithrombin III activity (HP:0001976)1.99585714
96Thrombophlebitis (HP:0004418)1.98999315
97Hemorrhage of the eye (HP:0011885)1.97295027
98Poikilocytosis (HP:0004447)1.96739697
99Increased serum pyruvate (HP:0003542)1.96181590
100Joint swelling (HP:0001386)1.94166363
101Rickets (HP:0002748)1.93233568
102Hypertriglyceridemia (HP:0002155)1.90936437
103Abnormality of endocrine pancreas physiology (HP:0012093)1.88938103
104Abnormality of the pancreatic islet cells (HP:0006476)1.88938103
105Abnormality of vitamin metabolism (HP:0100508)1.88159739
106Renal cortical cysts (HP:0000803)1.88060028
107Abnormal cartilage morphology (HP:0002763)1.85227869
108Abnormality of iron homeostasis (HP:0011031)1.83609632
109Pulmonary embolism (HP:0002204)1.83157882
110Abnormality of transition element cation homeostasis (HP:0011030)1.83033230
111Proximal tubulopathy (HP:0000114)1.82672684
112Hydroxyprolinuria (HP:0003080)1.82434380
113Abnormality of proline metabolism (HP:0010907)1.82434380
114Elevated hepatic transaminases (HP:0002910)1.79037716
115Abnormal enzyme/coenzyme activity (HP:0012379)1.78645414
116Abnormality of glycolysis (HP:0004366)1.78142639
117Abnormal urine phosphate concentration (HP:0012599)1.76774064
118Insulin resistance (HP:0000855)1.76545348
119Fair hair (HP:0002286)1.76047548
120Facial shape deformation (HP:0011334)1.71471736
121Potter facies (HP:0002009)1.71471736
122Abnormal delivery (HP:0001787)1.70941762
123Bifid scrotum (HP:0000048)1.65145809
124Elevated alkaline phosphatase (HP:0003155)1.61599018

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.87783146
2ERN14.58701636
3FGFR44.31553042
4SIK14.30452417
5INSRR3.50792564
6TAOK33.23005996
7PDK22.95921811
8MAPK152.87245745
9ERBB42.65504716
10PIK3CG2.58214331
11NTRK32.53217688
12WNK32.20442308
13MAP2K42.06338153
14MST1R1.99412944
15FLT31.97103326
16PKN21.94406311
17TRIB31.93974660
18FRK1.93175270
19MAPK111.74477968
20NLK1.63801079
21PTK61.52312265
22PIK3CA1.45389425
23DAPK21.44815839
24LATS11.43533847
25PASK1.38918258
26NEK91.38165183
27TYK21.37719123
28MAP3K121.35366442
29MYLK1.29539468
30ABL21.25847759
31KDR1.15910264
32CAMKK21.13998005
33JAK21.11056597
34SCYL21.07133221
35PINK11.05555358
36PRKAA21.04930338
37DDR21.02008061
38DYRK1B1.00709733
39PRKG10.98697320
40LMTK20.96774872
41ACVR1B0.95737688
42FGFR20.94832138
43MAP3K30.93193331
44MAP3K70.91645761
45STK38L0.90676321
46MET0.89176693
47EPHA30.88046696
48MAP2K30.86877472
49JAK10.86783487
50TBK10.85752514
51ERBB20.84847230
52GRK60.84799141
53MAPKAPK30.84555166
54CAMK1D0.81640171
55MAP3K110.81171417
56MAP3K100.80819472
57MAPK40.80763183
58PRKCZ0.80009358
59CSK0.78528720
60PTK20.76386677
61EPHB10.75750960
62PRKACG0.73621857
63PRKACB0.72946193
64CDK60.71788427
65TIE10.69519089
66PRKACA0.69308737
67GSK3A0.67978879
68IRAK30.67054960
69MAP3K140.64829051
70RIPK10.63956997
71PRKAA10.62977612
72CAMK2G0.62788340
73HIPK20.60984252
74CSNK1D0.60889637
75SGK10.57908094
76CSNK1E0.57835702
77MAP3K10.57038126
78MAP2K10.56624462
79PRKCE0.55553213
80MAPK120.55409391
81STK380.55044897
82RPS6KA30.54597010
83MAP2K60.54136976
84MAP3K20.52932437
85TRPM70.52249249
86MUSK0.50948649
87SGK30.50696685
88PDPK10.49080071
89TGFBR20.48755343
90MAPK70.48333130
91FGFR10.47821679
92PAK30.46214504
93AKT20.44540564
94MTOR0.44219981
95CAMK2D0.44024648
96LATS20.43592011
97FGFR30.43280618
98MAP2K20.43237579
99PRKCB0.42949661
100EPHA40.41760443
101IGF1R0.41587261
102MAP3K130.41168093
103CSNK1G10.41132643
104RET0.40581389
105CAMK10.40431983
106SRC0.37707076
107SGK20.37689630
108MAPK30.37281799
109MAP3K50.36791156
110PRKCQ0.36414938
111PRKCG0.35167541
112GRK10.34241204
113IRAK10.32041073
114IKBKE0.31489206
115SGK2230.30988753
116SGK4940.30988753
117CAMK1G0.30262407
118TAOK20.30000916
119EPHA20.29787679
120AKT30.29323334
121CDK40.28255254
122PDGFRA0.25793841
123EGFR0.25686855
124CSF1R0.25535137
125PDK10.25056432
126KSR20.25043204
127WNK40.24529555
128PRKCA0.24098383
129MAP3K60.23524681
130CAMK40.20748421
131ICK0.20515655
132FER0.18888537
133CSNK1G20.18629949
134STK160.18457138

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.45438455
2Nitrogen metabolism_Homo sapiens_hsa009103.53513929
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.32406118
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.29364278
5Arginine biosynthesis_Homo sapiens_hsa002203.04587589
6Complement and coagulation cascades_Homo sapiens_hsa046102.76232250
7Tryptophan metabolism_Homo sapiens_hsa003802.69524014
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.65051493
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.62990406
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.52897276
11Fatty acid degradation_Homo sapiens_hsa000712.52576591
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.42041161
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.20479924
14Butanoate metabolism_Homo sapiens_hsa006502.14907056
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10417276
16Peroxisome_Homo sapiens_hsa041462.08771086
17Propanoate metabolism_Homo sapiens_hsa006401.93550024
18PPAR signaling pathway_Homo sapiens_hsa033201.91306417
19Chemical carcinogenesis_Homo sapiens_hsa052041.90477196
20Histidine metabolism_Homo sapiens_hsa003401.89587809
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.88097819
22Steroid hormone biosynthesis_Homo sapiens_hsa001401.86374819
23Fatty acid metabolism_Homo sapiens_hsa012121.83924578
24Caffeine metabolism_Homo sapiens_hsa002321.75200504
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.74439816
26Staphylococcus aureus infection_Homo sapiens_hsa051501.71030004
27beta-Alanine metabolism_Homo sapiens_hsa004101.70814728
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.69265703
29Retinol metabolism_Homo sapiens_hsa008301.65170115
30Selenocompound metabolism_Homo sapiens_hsa004501.60316213
31Phenylalanine metabolism_Homo sapiens_hsa003601.59044146
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.58925861
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.58189623
34Maturity onset diabetes of the young_Homo sapiens_hsa049501.54027758
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53654326
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50259412
37Sulfur metabolism_Homo sapiens_hsa009201.46929352
38Tyrosine metabolism_Homo sapiens_hsa003501.46283197
39Bile secretion_Homo sapiens_hsa049761.44320832
40Pyruvate metabolism_Homo sapiens_hsa006201.39328497
41Fatty acid elongation_Homo sapiens_hsa000621.34118283
42Folate biosynthesis_Homo sapiens_hsa007901.32459338
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.29391746
44Starch and sucrose metabolism_Homo sapiens_hsa005001.27027835
45Fat digestion and absorption_Homo sapiens_hsa049751.24655974
46ABC transporters_Homo sapiens_hsa020101.21266682
47Biosynthesis of amino acids_Homo sapiens_hsa012301.18175314
48Steroid biosynthesis_Homo sapiens_hsa001001.14389336
49Carbon metabolism_Homo sapiens_hsa012001.13300908
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00012849
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.99859581
52Arginine and proline metabolism_Homo sapiens_hsa003300.96498624
53Sulfur relay system_Homo sapiens_hsa041220.94001364
54Vitamin B6 metabolism_Homo sapiens_hsa007500.93241139
55Cyanoamino acid metabolism_Homo sapiens_hsa004600.88232495
56Vitamin digestion and absorption_Homo sapiens_hsa049770.83703612
57Lysine degradation_Homo sapiens_hsa003100.82151443
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.82149159
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81389361
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69834530
61One carbon pool by folate_Homo sapiens_hsa006700.69666997
62Glycerolipid metabolism_Homo sapiens_hsa005610.68931884
63Glutathione metabolism_Homo sapiens_hsa004800.64245208
64Pentose phosphate pathway_Homo sapiens_hsa000300.58628480
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57148882
66Fatty acid biosynthesis_Homo sapiens_hsa000610.50037521
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49996252
68Metabolic pathways_Homo sapiens_hsa011000.46809487
69Other glycan degradation_Homo sapiens_hsa005110.44029989
70Prion diseases_Homo sapiens_hsa050200.41255766
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31896288
72Linoleic acid metabolism_Homo sapiens_hsa005910.30089799
73Galactose metabolism_Homo sapiens_hsa000520.28363512
74Fructose and mannose metabolism_Homo sapiens_hsa000510.26993906
75Insulin resistance_Homo sapiens_hsa049310.25419111
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.22023492
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19118654
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.18513400
79Mineral absorption_Homo sapiens_hsa049780.17440796
80Glucagon signaling pathway_Homo sapiens_hsa049220.17256243
81Pertussis_Homo sapiens_hsa051330.15448406
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.06317423
83Sphingolipid metabolism_Homo sapiens_hsa006000.05610777
84AMPK signaling pathway_Homo sapiens_hsa041520.04910295
85Ether lipid metabolism_Homo sapiens_hsa00565-0.2197587
86Lysosome_Homo sapiens_hsa04142-0.2057329
87Hepatitis C_Homo sapiens_hsa05160-0.1938274
88Renin-angiotensin system_Homo sapiens_hsa04614-0.1913196
89Protein export_Homo sapiens_hsa03060-0.1895668
90Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1872518
91Type II diabetes mellitus_Homo sapiens_hsa04930-0.1801862
92Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1776296
93African trypanosomiasis_Homo sapiens_hsa05143-0.1727346
94Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1640787
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1522849
96Insulin secretion_Homo sapiens_hsa04911-0.1373514
97Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1366308
98Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1253761
99Circadian rhythm_Homo sapiens_hsa04710-0.1093302
100Serotonergic synapse_Homo sapiens_hsa04726-0.1018926
101Regulation of autophagy_Homo sapiens_hsa04140-0.0720219
102N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0678316
103Insulin signaling pathway_Homo sapiens_hsa04910-0.0660728
104Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0640487
105Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0546764
106Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0541490
107Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0278021
108Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0096814
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0095529

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