UROC1

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 an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1omega-hydroxylase P450 pathway (GO:0097267)9.93811845
2epoxygenase P450 pathway (GO:0019373)9.84810222
3exogenous drug catabolic process (GO:0042738)9.23878268
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.63116214
5L-phenylalanine catabolic process (GO:0006559)7.63116214
6L-phenylalanine metabolic process (GO:0006558)7.29929961
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.29929961
8aromatic amino acid family catabolic process (GO:0009074)6.91121706
9ethanol metabolic process (GO:0006067)6.90827285
10drug metabolic process (GO:0017144)6.48866942
11indole-containing compound catabolic process (GO:0042436)6.29992944
12indolalkylamine catabolic process (GO:0046218)6.29992944
13tryptophan catabolic process (GO:0006569)6.29992944
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.29878027
15oxidative demethylation (GO:0070989)6.29160333
16kynurenine metabolic process (GO:0070189)6.12358064
17bile acid biosynthetic process (GO:0006699)5.95991441
18tryptophan metabolic process (GO:0006568)5.91740668
19glyoxylate metabolic process (GO:0046487)5.77712738
20urea cycle (GO:0000050)5.71994041
21urea metabolic process (GO:0019627)5.71994041
22alpha-linolenic acid metabolic process (GO:0036109)5.60739475
23negative regulation of fibrinolysis (GO:0051918)5.57733428
24regulation of plasminogen activation (GO:0010755)5.52330478
25high-density lipoprotein particle remodeling (GO:0034375)5.50997844
26regulation of fibrinolysis (GO:0051917)5.41587472
27peptidyl-glutamic acid carboxylation (GO:0017187)5.37866752
28protein carboxylation (GO:0018214)5.37866752
29cysteine metabolic process (GO:0006534)5.36593075
30sulfur amino acid catabolic process (GO:0000098)5.31558010
31regulation of protein activation cascade (GO:2000257)5.29878211
32complement activation, alternative pathway (GO:0006957)5.29027201
33nitrogen cycle metabolic process (GO:0071941)5.26460581
34phenylpropanoid metabolic process (GO:0009698)5.23295303
35serine family amino acid catabolic process (GO:0009071)5.21647286
36opsonization (GO:0008228)5.15016374
37bile acid metabolic process (GO:0008206)5.10753602
38aromatic amino acid family metabolic process (GO:0009072)5.01796207
39regulation of complement activation (GO:0030449)4.93316476
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.91258890
41regulation of cholesterol esterification (GO:0010872)4.87315110
42tyrosine metabolic process (GO:0006570)4.81038102
43reverse cholesterol transport (GO:0043691)4.79811134
44homocysteine metabolic process (GO:0050667)4.79145340
45negative regulation of blood coagulation (GO:0030195)4.76957601
46negative regulation of hemostasis (GO:1900047)4.76957601
47regulation of humoral immune response (GO:0002920)4.76239302
48regulation of triglyceride catabolic process (GO:0010896)4.75476315
49plasma lipoprotein particle remodeling (GO:0034369)4.74961179
50protein-lipid complex remodeling (GO:0034368)4.74961179
51macromolecular complex remodeling (GO:0034367)4.74961179
52S-adenosylmethionine metabolic process (GO:0046500)4.73697212
53amino-acid betaine metabolic process (GO:0006577)4.65622195
54* alpha-amino acid catabolic process (GO:1901606)4.63639915
55lysine metabolic process (GO:0006553)4.62105044
56lysine catabolic process (GO:0006554)4.62105044
57negative regulation of protein activation cascade (GO:2000258)4.60640470
58acute-phase response (GO:0006953)4.59399209
59negative regulation of cholesterol transport (GO:0032375)4.59218295
60negative regulation of sterol transport (GO:0032372)4.59218295
61triglyceride homeostasis (GO:0070328)4.59184824
62acylglycerol homeostasis (GO:0055090)4.59184824
63phospholipid efflux (GO:0033700)4.55132634
64alkaloid metabolic process (GO:0009820)4.54851981
65disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.52278427
66killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.52278427
67glycine metabolic process (GO:0006544)4.48916954
68cellular ketone body metabolic process (GO:0046950)4.45883591
69indolalkylamine metabolic process (GO:0006586)4.45711207
70bile acid and bile salt transport (GO:0015721)4.43216662
71coenzyme catabolic process (GO:0009109)4.41201933
72cellular biogenic amine catabolic process (GO:0042402)4.40769295
73amine catabolic process (GO:0009310)4.40769295
74negative regulation of coagulation (GO:0050819)4.33326022
75plasma lipoprotein particle clearance (GO:0034381)4.32569303
76negative regulation of wound healing (GO:0061045)4.28667345
77cellular glucuronidation (GO:0052695)4.28392749
78* cellular amino acid catabolic process (GO:0009063)4.26418017
79serine family amino acid metabolic process (GO:0009069)4.23968038
80cholesterol efflux (GO:0033344)4.18731612
81benzene-containing compound metabolic process (GO:0042537)4.18002741
82positive regulation of blood coagulation (GO:0030194)4.15117969
83positive regulation of hemostasis (GO:1900048)4.15117969
84ethanol oxidation (GO:0006069)4.13300801
85cellular modified amino acid catabolic process (GO:0042219)4.10743025
86low-density lipoprotein particle remodeling (GO:0034374)4.07901701
87arginine metabolic process (GO:0006525)4.06592650
88serine family amino acid biosynthetic process (GO:0009070)4.06511545
89* glutamate metabolic process (GO:0006536)4.03257199
90aldehyde catabolic process (GO:0046185)4.03035750
91fibrinolysis (GO:0042730)4.02295981
92dicarboxylic acid biosynthetic process (GO:0043650)3.98655625
93plasma lipoprotein particle assembly (GO:0034377)3.98624660
94drug catabolic process (GO:0042737)3.96344563
95negative regulation of complement activation (GO:0045916)3.91536359
96blood coagulation, intrinsic pathway (GO:0007597)3.91059348
97ketone body metabolic process (GO:1902224)3.85921925
98* imidazole-containing compound metabolic process (GO:0052803)3.82073296
99cofactor catabolic process (GO:0051187)3.81565753
100uronic acid metabolic process (GO:0006063)3.81097436
101glucuronate metabolic process (GO:0019585)3.81097436
102positive regulation of coagulation (GO:0050820)3.80307475
103very-low-density lipoprotein particle assembly (GO:0034379)3.79403317
104complement activation, classical pathway (GO:0006958)3.74606592
105* carboxylic acid catabolic process (GO:0046395)3.74569100
106* organic acid catabolic process (GO:0016054)3.74569100
107positive regulation of lipoprotein lipase activity (GO:0051006)3.73084734
108positive regulation of triglyceride lipase activity (GO:0061365)3.73084734
109regulation of bile acid biosynthetic process (GO:0070857)3.72725002
110protein activation cascade (GO:0072376)3.72501293
111negative regulation of lipase activity (GO:0060192)3.72468485
112complement activation (GO:0006956)3.71238066
113cholesterol homeostasis (GO:0042632)3.71148215
114phospholipid homeostasis (GO:0055091)3.70482857
115short-chain fatty acid metabolic process (GO:0046459)3.70361100
116positive regulation of lipid catabolic process (GO:0050996)3.69549462
117acetyl-CoA metabolic process (GO:0006084)3.66335928
118NAD biosynthetic process (GO:0009435)3.65850137
119sterol homeostasis (GO:0055092)3.64836747
120regulation of cholesterol homeostasis (GO:2000188)3.62066911
121intestinal cholesterol absorption (GO:0030299)3.61646110
122plasma lipoprotein particle organization (GO:0071827)3.61211106
123nicotinamide nucleotide biosynthetic process (GO:0019359)3.59991358
124pyridine nucleotide biosynthetic process (GO:0019363)3.59991358
125positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.59757889
126flavonoid metabolic process (GO:0009812)3.59652069
127cytolysis (GO:0019835)3.58415142
128xenobiotic metabolic process (GO:0006805)3.51466450
129regulation of apoptotic cell clearance (GO:2000425)3.48540904
130acute inflammatory response (GO:0002526)3.44683978
131hormone catabolic process (GO:0042447)3.44170827
132sodium-independent organic anion transport (GO:0043252)3.44007845
133regulation of acute inflammatory response (GO:0002673)3.41021186

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.46498839
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.24564255
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.10479166
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.49256874
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.31137926
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.18917927
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.82271200
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.08958406
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.01125816
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.07375383
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.01368597
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0150596
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93075165
14* FOXA2_19822575_ChIP-Seq_HepG2_Human1.53906470
15GATA1_22025678_ChIP-Seq_K562_Human1.48085777
16* HTT_18923047_ChIP-ChIP_STHdh_Human1.43708890
17CLOCK_20551151_ChIP-Seq_293T_Human1.39323568
18* HNF4A_19822575_ChIP-Seq_HepG2_Human1.39068114
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29171845
20STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22735767
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21417426
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.19729938
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.09418440
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.08250934
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.08104741
26IRF8_22096565_ChIP-ChIP_GC-B_Human1.07563949
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03458329
28ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03049941
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.02398316
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87563746
31TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.86695631
32SOX2_27498859_Chip-Seq_STOMACH_Mouse0.86364606
33AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85360543
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84254807
35CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.83240934
36KAP1_22055183_ChIP-Seq_ESCs_Mouse0.82777576
37RARG_19884340_ChIP-ChIP_MEFs_Mouse0.80302837
38ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.79094103
39GATA4_25053715_ChIP-Seq_YYC3_Human0.78177595
40SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76950331
41HNFA_21074721_ChIP-Seq_CACO-2_Human0.76362798
42SOX2_21211035_ChIP-Seq_LN229_Human0.75779369
43SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75552048
44Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.74028511
45PHF8_20622853_ChIP-Seq_HELA_Human0.73967180
46RARA_24833708_ChIP-Seq_LIVER_Mouse0.72687897
47BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.71165782
48GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.70722442
49* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.70478393
50CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69870925
51* RAC3_21632823_ChIP-Seq_H3396_Human0.67681609
52SPI1_20517297_ChIP-Seq_HL60_Human0.66821744
53RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.66788420
54ETV2_25802403_ChIP-Seq_MESCs_Mouse0.66231685
55DNAJC2_21179169_ChIP-ChIP_NT2_Human0.64975582
56NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.64839543
57RARB_24833708_ChIP-Seq_LIVER_Mouse0.64511528
58GATA6_21074721_ChIP-Seq_CACO-2_Human0.63989449
59RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63766933
60SMC4_20622854_ChIP-Seq_HELA_Human0.63568254
61ZNF263_19887448_ChIP-Seq_K562_Human0.63566522
62BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.63331899
63SALL4_18804426_ChIP-ChIP_XEN_Mouse0.63025707
64AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.63006748
65TP53_18474530_ChIP-ChIP_U2OS_Human0.62605217
66MYC_19829295_ChIP-Seq_ESCs_Human0.62155549
67NFYA_21822215_ChIP-Seq_K562_Human0.62123392
68NRF2_20460467_ChIP-Seq_MEFs_Mouse0.60635558
69NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.60635558
70E2F1_20622854_ChIP-Seq_HELA_Human0.60527594
71NFE2_27457419_Chip-Seq_LIVER_Mouse0.60288406
72PIAS1_25552417_ChIP-Seq_VCAP_Human0.60160835
73FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.59395691
74CEBPB_22108803_ChIP-Seq_LS180_Human0.59108969
75SRY_22984422_ChIP-ChIP_TESTIS_Rat0.59045008
76ELF1_20517297_ChIP-Seq_JURKAT_Human0.58527035
77CBX2_22325352_ChIP-Seq_293T-Rex_Human0.58177705
78* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.57249211
79NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.57186586
80ESR2_21235772_ChIP-Seq_MCF-7_Human0.56587462
81CTCF_27219007_Chip-Seq_Bcells_Human0.56481369
82AR_20517297_ChIP-Seq_VCAP_Human0.56086201
83NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.55682101
84EGR1_19032775_ChIP-ChIP_M12_Human0.55014025
85PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.54776915
86* P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.54494399
87EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.54326918
88LXR_22292898_ChIP-Seq_THP-1_Human0.53700855
89E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.53002142
90GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.52725465
91POU5F1_16518401_ChIP-PET_MESCs_Mouse0.52576466
92SA1_27219007_Chip-Seq_Bcells_Human0.52563691
93ETV1_20927104_ChIP-Seq_GIST48_Human0.52336114
94STAT1_17558387_ChIP-Seq_HELA_Human0.52062201
95MYC_19915707_ChIP-ChIP_AK7_Human0.51129483
96STAT3_1855785_ChIP-Seq_MESCs_Mouse0.50921724
97ESET_19884257_ChIP-Seq_ESCs_Mouse0.50906704
98FOXA1_25552417_ChIP-Seq_VCAP_Human0.50863813
99CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.50349305
100FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50273220
101CTCF_20526341_ChIP-Seq_ESCs_Human0.49844176
102P53_21459846_ChIP-Seq_SAOS-2_Human0.49365144
103FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.48501190
104CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.48281902
105GATA1_19941827_ChIP-Seq_MEL_Mouse0.47937663
106CDX2_20551321_ChIP-Seq_CACO-2_Human0.47494450
107CBP_21632823_ChIP-Seq_H3396_Human0.47152544
108TAF15_26573619_Chip-Seq_HEK293_Human0.46510796
109BCL6_27268052_Chip-Seq_Bcells_Human0.46304750
110EZH2_27294783_Chip-Seq_NPCs_Mouse0.46152414
111BCOR_27268052_Chip-Seq_Bcells_Human0.46053375
112* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44789608
113PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44193419
114PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44052616
115TAF2_19829295_ChIP-Seq_ESCs_Human0.42959991
116CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.42639216
117SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.42222103
118IRF1_19129219_ChIP-ChIP_H3396_Human0.41524776
119GATA1_19941826_ChIP-Seq_K562_Human0.40793026
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.40669497
121STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.40651804
122GATA2_19941826_ChIP-Seq_K562_Human0.40289177
123SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38962925
124ESR1_21235772_ChIP-Seq_MCF-7_Human0.38331521
125GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.37967497
126BCAT_22108803_ChIP-Seq_LS180_Human0.37278058
127ERG_20517297_ChIP-Seq_VCAP_Human0.36625035
128MYC_27129775_Chip-Seq_CORNEA_Mouse0.35850485
129PPAR_26484153_Chip-Seq_NCI-H1993_Human0.35538650
130ESR1_20079471_ChIP-ChIP_T-47D_Human0.35017358
131SPI1_26923725_Chip-Seq_HPCs_Mouse0.34704854
132CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.34602131
133GATA6_25053715_ChIP-Seq_YYC3_Human0.34385053
134SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.34342675
135FOXH1_21741376_ChIP-Seq_EPCs_Human0.33484377
136LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.32503131
137ERG_21242973_ChIP-ChIP_JURKAT_Human0.32183021
138CRX_20693478_ChIP-Seq_RETINA_Mouse0.31724157

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.30433203
2MP0005360_urolithiasis7.56981652
3MP0005085_abnormal_gallbladder_physiolo6.42548843
4MP0005365_abnormal_bile_salt6.15290720
5MP0008875_abnormal_xenobiotic_pharmacok5.13911080
6MP0003806_abnormal_nucleotide_metabolis4.28755103
7MP0003252_abnormal_bile_duct3.91460164
8MP0010329_abnormal_lipoprotein_level3.56139667
9MP0009840_abnormal_foam_cell3.22558307
10MP0005083_abnormal_biliary_tract3.09596764
11MP0003195_calcinosis2.90685899
12MP0005332_abnormal_amino_acid2.80397053
13MP0001666_abnormal_nutrient_absorption2.56659897
14MP0003191_abnormal_cellular_cholesterol2.27811724
15MP0004019_abnormal_vitamin_homeostasis2.17251231
16MP0000609_abnormal_liver_physiology2.16695798
17MP0002118_abnormal_lipid_homeostasis2.08864453
18MP0002138_abnormal_hepatobiliary_system2.00883595
19MP0003868_abnormal_feces_composition1.98004381
20MP0005319_abnormal_enzyme/_coenzyme1.84002092
21MP0001764_abnormal_homeostasis1.69525275
22MP0009697_abnormal_copulation1.62386029
23MP0005584_abnormal_enzyme/coenzyme_acti1.59099948
24MP0005451_abnormal_body_composition1.44375657
25MP0003011_delayed_dark_adaptation1.37629878
26MP0003186_abnormal_redox_activity1.29481964
27MP0003656_abnormal_erythrocyte_physiolo1.27949344
28MP0009643_abnormal_urine_homeostasis1.26529815
29MP0000598_abnormal_liver_morphology1.18234064
30MP0005647_abnormal_sex_gland1.14914727
31MP0009764_decreased_sensitivity_to1.10269650
32MP0009763_increased_sensitivity_to1.03846407
33MP0000604_amyloidosis1.01688195
34MP0002282_abnormal_trachea_morphology1.01644146
35MP0002254_reproductive_system_inflammat0.99205602
36MP0005636_abnormal_mineral_homeostasis0.97867024
37MP0003705_abnormal_hypodermis_morpholog0.96577642
38MP0010368_abnormal_lymphatic_system0.94392054
39MP0008469_abnormal_protein_level0.93940280
40MP0009642_abnormal_blood_homeostasis0.89007218
41MP0002876_abnormal_thyroid_physiology0.88275258
42MP0005084_abnormal_gallbladder_morpholo0.86023569
43MP0006036_abnormal_mitochondrial_physio0.85280870
44MP0005408_hypopigmentation0.84606613
45MP0009765_abnormal_xenobiotic_induced0.79942423
46MP0005376_homeostasis/metabolism_phenot0.79739371
47MP0001915_intracranial_hemorrhage0.79727317
48MP0002249_abnormal_larynx_morphology0.79503047
49MP0002078_abnormal_glucose_homeostasis0.77220816
50MP0005220_abnormal_exocrine_pancreas0.74344215
51MP0005670_abnormal_white_adipose0.73145382
52MP0002971_abnormal_brown_adipose0.72986127
53MP0003879_abnormal_hair_cell0.71873145
54MP0001661_extended_life_span0.71603026
55MP0005334_abnormal_fat_pad0.69764131
56MP0009785_altered_susceptibility_to0.66611898
57MP0004130_abnormal_muscle_cell0.66321728
58MP0005535_abnormal_body_temperature0.66120051
59MP0005187_abnormal_penis_morphology0.64579694
60MP0005266_abnormal_metabolism0.64352061
61MP0003690_abnormal_glial_cell0.61062664
62MP0001756_abnormal_urination0.60521702
63MP0005464_abnormal_platelet_physiology0.59301573
64MP0003724_increased_susceptibility_to0.58705063
65MP0006035_abnormal_mitochondrial_morpho0.58617989
66MP0009053_abnormal_anal_canal0.58351699
67MP0000639_abnormal_adrenal_gland0.57849500
68MP0005448_abnormal_energy_balance0.54545122
69MP0003329_amyloid_beta_deposits0.54399961
70MP0003436_decreased_susceptibility_to0.53282509
71MP0004381_abnormal_hair_follicle0.50236385
72MP0002928_abnormal_bile_duct0.49533155
73MP0003718_maternal_effect0.49360550
74MP0005395_other_phenotype0.48853546
75MP0002136_abnormal_kidney_physiology0.48732054
76MP0000566_synostosis0.47971089
77MP0003638_abnormal_response/metabolism_0.47767415
78MP0002822_catalepsy0.47533649
79MP0002332_abnormal_exercise_endurance0.47210965
80MP0008874_decreased_physiological_sensi0.45267271
81MP0008873_increased_physiological_sensi0.44444127
82MP0005023_abnormal_wound_healing0.44228769
83MP0004782_abnormal_surfactant_physiolog0.44035767
84MP0001986_abnormal_taste_sensitivity0.41108483
85MP0003953_abnormal_hormone_level0.40870342
86MP0003075_altered_response_to0.40412632
87MP0006082_CNS_inflammation0.37818111
88MP0001853_heart_inflammation0.37682749
89MP0005166_decreased_susceptibility_to0.37588304
90MP0008872_abnormal_physiological_respon0.35550920
91MP0000579_abnormal_nail_morphology0.35236942
92MP0000467_abnormal_esophagus_morphology0.35236432
93MP0005666_abnormal_adipose_tissue0.34353074
94MP0005248_abnormal_Harderian_gland0.33860020
95MP0009115_abnormal_fat_cell0.33198582
96MP0001845_abnormal_inflammatory_respons0.33006670
97MP0000249_abnormal_blood_vessel0.32339714
98MP0000230_abnormal_systemic_arterial0.32224336
99MP0009672_abnormal_birth_weight0.32202429
100MP0002970_abnormal_white_adipose0.30904981
101MP0002837_dystrophic_cardiac_calcinosis0.30273787
102MP0002168_other_aberrant_phenotype0.29972991
103MP0002132_abnormal_respiratory_system0.29678439
104MP0001243_abnormal_dermal_layer0.29492792
105MP0009384_cardiac_valve_regurgitation0.29437211
106MP0006292_abnormal_olfactory_placode0.29046908
107MP0004883_abnormal_blood_vessel0.28436068
108MP0009379_abnormal_foot_pigmentation0.27844644
109MP0002796_impaired_skin_barrier0.27024261
110MP0001545_abnormal_hematopoietic_system0.26808015
111MP0005397_hematopoietic_system_phenotyp0.26808015
112MP0001881_abnormal_mammary_gland0.26475397
113MP0005058_abnormal_lysosome_morphology0.24691995
114MP0005164_abnormal_response_to0.23646180
115MP0001851_eye_inflammation0.22036266
116MP0003878_abnormal_ear_physiology0.17445615
117MP0005377_hearing/vestibular/ear_phenot0.17445615
118MP0002128_abnormal_blood_circulation0.16794950
119MP0001440_abnormal_grooming_behavior0.15870111
120MP0005197_abnormal_uvea_morphology0.15465247

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.46996576
2Deep venous thrombosis (HP:0002625)7.33713496
3Intrahepatic cholestasis (HP:0001406)7.23343160
4Prolonged partial thromboplastin time (HP:0003645)6.79958877
5Hypobetalipoproteinemia (HP:0003563)6.39132219
6* Abnormality of monocarboxylic acid metabolism (HP:0010996)6.26979511
7Xanthomatosis (HP:0000991)6.20861722
8Hyperlipoproteinemia (HP:0010980)5.52252981
9Complement deficiency (HP:0004431)5.24608758
10Joint hemorrhage (HP:0005261)4.92846697
11Hypolipoproteinemia (HP:0010981)4.72017879
12Hyperammonemia (HP:0001987)4.59900684
13Hyperglycinemia (HP:0002154)4.55501312
14Abnormality of the common coagulation pathway (HP:0010990)4.47992175
15Epidermoid cyst (HP:0200040)4.44899905
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.32292677
17Abnormality of methionine metabolism (HP:0010901)4.28319722
18Ketosis (HP:0001946)4.26143718
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.24441698
20Abnormality of glutamine family amino acid metabolism (HP:0010902)4.22165669
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.15402725
22Fat malabsorption (HP:0002630)4.10650983
23Hypoalphalipoproteinemia (HP:0003233)4.07594759
24Hyperglycinuria (HP:0003108)4.03247837
25Abnormality of glycine metabolism (HP:0010895)4.00045023
26Abnormality of serine family amino acid metabolism (HP:0010894)4.00045023
27Abnormality of pyrimidine metabolism (HP:0004353)3.93006271
28Abnormality of complement system (HP:0005339)3.84175253
29Hypoglycemic coma (HP:0001325)3.82599354
30Conjugated hyperbilirubinemia (HP:0002908)3.77285136
31Abnormality of the intrinsic pathway (HP:0010989)3.73433124
32Hypercholesterolemia (HP:0003124)3.62029697
33Neonatal hypoglycemia (HP:0001998)3.54430817
34Hyperbilirubinemia (HP:0002904)3.43485012
35Abnormality of fatty-acid metabolism (HP:0004359)3.36862075
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.36637611
37Delayed CNS myelination (HP:0002188)3.19428297
38Abnormality of serum amino acid levels (HP:0003112)3.15666608
39Abnormality of nucleobase metabolism (HP:0010932)3.11125449
40Steatorrhea (HP:0002570)3.09076384
41Spontaneous abortion (HP:0005268)3.06970502
42Ketoacidosis (HP:0001993)3.00454491
43Myocardial infarction (HP:0001658)2.95439620
44Hepatocellular carcinoma (HP:0001402)2.94262829
45Hypochromic microcytic anemia (HP:0004840)2.90977938
46Metabolic acidosis (HP:0001942)2.77838058
47Abnormality of purine metabolism (HP:0004352)2.70185037
48Skin nodule (HP:0200036)2.70110776
49Systemic lupus erythematosus (HP:0002725)2.69730354
50Lethargy (HP:0001254)2.66846733
51Vascular calcification (HP:0004934)2.65326035
52Dicarboxylic aciduria (HP:0003215)2.63643329
53Abnormality of dicarboxylic acid metabolism (HP:0010995)2.63643329
54Glomerulonephritis (HP:0000099)2.59001682
55Acanthocytosis (HP:0001927)2.58382207
56Osteomalacia (HP:0002749)2.56714051
57Purpura (HP:0000979)2.56612175
58Hypoglycemic seizures (HP:0002173)2.46926080
59Pulmonary embolism (HP:0002204)2.46130400
60Cerebral edema (HP:0002181)2.45759658
61Gout (HP:0001997)2.44612529
62Mitral stenosis (HP:0001718)2.41911007
63Spastic diplegia (HP:0001264)2.40822497
64Abnormal gallbladder morphology (HP:0012437)2.40730991
65Neonatal onset (HP:0003623)2.36935781
66Irritability (HP:0000737)2.36734677
67Cholelithiasis (HP:0001081)2.34279842
68Cardiovascular calcification (HP:0011915)2.33999004
69Recurrent gram-negative bacterial infections (HP:0005420)2.33453621
70Malnutrition (HP:0004395)2.32842523
71Amyloidosis (HP:0011034)2.30167765
72Gingival bleeding (HP:0000225)2.27559740
73Cholecystitis (HP:0001082)2.27116901
74Abnormal gallbladder physiology (HP:0012438)2.27116901
75Late onset (HP:0003584)2.24019724
76Menorrhagia (HP:0000132)2.23628687
77Pancreatitis (HP:0001733)2.17979633
78Esophageal varix (HP:0002040)2.15879684
79Thrombophlebitis (HP:0004418)2.13895970
80Brushfield spots (HP:0001088)2.13599331
81Generalized aminoaciduria (HP:0002909)2.12536324
82Vomiting (HP:0002013)2.10334073
83Enlarged kidneys (HP:0000105)2.09201603
84Opisthotonus (HP:0002179)2.08798783
85Sensorimotor neuropathy (HP:0007141)2.07875585
86Poikilocytosis (HP:0004447)2.05578753
87Hemorrhage of the eye (HP:0011885)2.01108122
88Arthropathy (HP:0003040)1.98978195
89Alkalosis (HP:0001948)1.96896408
90Hyperinsulinemic hypoglycemia (HP:0000825)1.96762878
91Rickets (HP:0002748)1.95829754
92Abnormality of the gallbladder (HP:0005264)1.95504090
93Increased serum ferritin (HP:0003281)1.95396841
94Abnormality of iron homeostasis (HP:0011031)1.93234634
95Hypophosphatemic rickets (HP:0004912)1.92453260
96Elevated alkaline phosphatase (HP:0003155)1.90461896
97Abnormality of transition element cation homeostasis (HP:0011030)1.89930006
98Renal cortical cysts (HP:0000803)1.89796358
99Hyperphosphaturia (HP:0003109)1.89663876
100Reduced antithrombin III activity (HP:0001976)1.89180843
101Elevated hepatic transaminases (HP:0002910)1.87440794
102Hydroxyprolinuria (HP:0003080)1.85130427
103Abnormality of proline metabolism (HP:0010907)1.85130427
104Abnormality of the Achilles tendon (HP:0005109)1.84704979
105Increased mean platelet volume (HP:0011877)1.82907971
106Abnormal cartilage morphology (HP:0002763)1.82881995
107Gangrene (HP:0100758)1.81833965
108Epistaxis (HP:0000421)1.81314481
109Nephritis (HP:0000123)1.80496806
110Abnormal enzyme/coenzyme activity (HP:0012379)1.80014736
111Status epilepticus (HP:0002133)1.77399283
112Abnormality of vitamin metabolism (HP:0100508)1.74893342
113Abnormality of alkaline phosphatase activity (HP:0004379)1.73389030
114Abnormality of urine glucose concentration (HP:0011016)1.73053542
115Glycosuria (HP:0003076)1.73053542
116Reticulocytosis (HP:0001923)1.70370418
117Joint swelling (HP:0001386)1.70361315
118Cerebral palsy (HP:0100021)1.70084101
119Bifid scrotum (HP:0000048)1.67762663
120Atrioventricular block (HP:0001678)1.66894163
121Abnormal platelet volume (HP:0011876)1.66222679
122Impaired platelet aggregation (HP:0003540)1.61076887
123Abnormal platelet function (HP:0011869)1.61076887
124Hypochromic anemia (HP:0001931)1.52931212
125Abnormal urine phosphate concentration (HP:0012599)1.52044014

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.27606827
2SIK14.63108685
3FGFR44.61508560
4ERN14.33690456
5TAOK33.34113296
6INSRR3.03022883
7ERBB42.80396238
8PIK3CA2.42893509
9MAP2K42.22974762
10PRPF4B2.21799712
11FLT32.16877772
12PKN22.09063191
13MST1R2.08673141
14MAPK111.97833963
15PIK3CG1.92453868
16TYK21.83050725
17NTRK31.80550736
18DAPK21.53056582
19ABL21.51953274
20KDR1.46863023
21TRIB31.40910647
22NEK91.39367195
23TNK21.33576241
24PTK61.29631673
25LATS11.28919953
26PINK11.28643546
27JAK21.26210013
28PRKAA21.19996854
29TBK11.18552638
30MAP3K71.15639984
31MAP3K141.15586471
32FRK1.15427753
33MAPK41.11412969
34MAP2K31.09436659
35FGFR21.09239431
36GRK61.06446774
37JAK11.03483368
38IRAK31.03182991
39MAPK151.02442623
40PRKG11.01490962
41ERBB20.97663625
42TIE10.97483831
43PRKACA0.93166782
44ICK0.90061467
45MAP3K100.86636345
46BLK0.84386399
47PRKCZ0.83999328
48DYRK1B0.81983123
49MAPK120.81568230
50TGFBR20.79820608
51CSK0.79802280
52MAP3K110.79516388
53CDK60.78744162
54AKT30.77144205
55MAP2K60.76401019
56PDK20.76108959
57PRKACG0.73607195
58IKBKE0.72975522
59EPHA30.72402435
60CAMKK20.72182537
61CSF1R0.70844227
62NLK0.69373518
63STK38L0.69251526
64EPHB10.69098718
65FER0.68599033
66MAP3K30.67988992
67CAMKK10.67501954
68CAMK2G0.66393743
69PRKAA10.65396911
70GSK3A0.63599453
71CSNK1D0.62549966
72MET0.62283696
73RPS6KA30.59951733
74SGK30.55854515
75MAP3K20.55595131
76CAMK1D0.55348637
77PRKCB0.55094007
78TAOK20.54672511
79CSNK1G10.54559571
80SRC0.53829527
81SGK10.53489544
82MAPK70.53294230
83KIT0.49609839
84PRKACB0.49556023
85PRKCQ0.49242035
86GRK10.48538709
87SGK20.46778979
88FGFR30.45901455
89CDK40.45264481
90IRAK10.44319186
91MAP3K130.43863215
92MAP3K60.43766992
93IGF1R0.43531293
94SMG10.42291704
95IRAK20.41624576
96CSNK2A10.41040535
97MAPK30.40794580
98PDPK10.40689890
99CSNK1E0.40497873
100DYRK1A0.39322843
101MAP3K50.38875511
102PTK20.37766617
103EPHA40.37074593
104MYLK0.34619146
105MAP3K10.33754146
106CSNK2A20.33508893
107PRKCG0.33260753
108ARAF0.33235695
109CAMK40.33031987
110AKT20.32857610
111RIPK10.32466099
112TNIK0.30259842
113STK380.28421650
114STK160.28349482
115MAPK100.28126063
116EGFR0.27623160
117SGK4940.26812489
118SGK2230.26812489
119RET0.26798229
120PKN10.26352865
121MAP2K10.26102857
122CSNK1A10.25903346
123ABL10.25674836
124MAP2K20.25189044
125MAP4K10.24877784
126CSNK1G20.24868546
127CSNK1G30.24622503
128PRKCA0.24305703
129PDK10.23896158
130PBK0.21790602
131ZAP700.20488676
132MTOR0.19810042
133BTK0.19798880

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.50699777
2Nitrogen metabolism_Homo sapiens_hsa009103.55419443
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.40828252
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.30258481
5Arginine biosynthesis_Homo sapiens_hsa002203.06491269
6Complement and coagulation cascades_Homo sapiens_hsa046102.76722303
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.72194170
8Tryptophan metabolism_Homo sapiens_hsa003802.70267067
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.62895911
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.56521851
11Fatty acid degradation_Homo sapiens_hsa000712.47693033
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.38821930
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.33825878
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.16474661
15Butanoate metabolism_Homo sapiens_hsa006502.14388786
16Peroxisome_Homo sapiens_hsa041462.10193125
17Chemical carcinogenesis_Homo sapiens_hsa052041.97694196
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.96319411
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.95615908
20Propanoate metabolism_Homo sapiens_hsa006401.92303642
21PPAR signaling pathway_Homo sapiens_hsa033201.84072069
22Drug metabolism - other enzymes_Homo sapiens_hsa009831.81695565
23Staphylococcus aureus infection_Homo sapiens_hsa051501.79092359
24Fatty acid metabolism_Homo sapiens_hsa012121.77876537
25beta-Alanine metabolism_Homo sapiens_hsa004101.73332941
26Retinol metabolism_Homo sapiens_hsa008301.73317616
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.72182749
28* Histidine metabolism_Homo sapiens_hsa003401.71756931
29Caffeine metabolism_Homo sapiens_hsa002321.71195930
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.68740996
31Selenocompound metabolism_Homo sapiens_hsa004501.60588254
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.60460401
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.54829190
34Phenylalanine metabolism_Homo sapiens_hsa003601.53229260
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.49195003
36Bile secretion_Homo sapiens_hsa049761.48138683
37Tyrosine metabolism_Homo sapiens_hsa003501.43356437
38Pyruvate metabolism_Homo sapiens_hsa006201.34645451
39Sulfur metabolism_Homo sapiens_hsa009201.34012441
40Fatty acid elongation_Homo sapiens_hsa000621.33130344
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.32023777
42Starch and sucrose metabolism_Homo sapiens_hsa005001.29095707
43Folate biosynthesis_Homo sapiens_hsa007901.26322083
44ABC transporters_Homo sapiens_hsa020101.23965916
45Biosynthesis of amino acids_Homo sapiens_hsa012301.19157883
46Steroid biosynthesis_Homo sapiens_hsa001001.17103735
47Fat digestion and absorption_Homo sapiens_hsa049751.13781449
48Carbon metabolism_Homo sapiens_hsa012001.10596175
49Cyanoamino acid metabolism_Homo sapiens_hsa004601.04999710
50Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.04729962
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.04450797
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03751958
53Sulfur relay system_Homo sapiens_hsa041221.01126251
54Arginine and proline metabolism_Homo sapiens_hsa003300.97037718
55Vitamin B6 metabolism_Homo sapiens_hsa007500.92823096
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.91897740
57Vitamin digestion and absorption_Homo sapiens_hsa049770.88791495
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84714638
59One carbon pool by folate_Homo sapiens_hsa006700.82457598
60Lysine degradation_Homo sapiens_hsa003100.80696960
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67855886
62Glycerolipid metabolism_Homo sapiens_hsa005610.66979216
63Glutathione metabolism_Homo sapiens_hsa004800.66265091
64Pentose phosphate pathway_Homo sapiens_hsa000300.57397993
65Fatty acid biosynthesis_Homo sapiens_hsa000610.49937630
66* Metabolic pathways_Homo sapiens_hsa011000.47287296
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.42274356
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40117426
69Prion diseases_Homo sapiens_hsa050200.30458678
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25556547
71Galactose metabolism_Homo sapiens_hsa000520.25130781
72Fructose and mannose metabolism_Homo sapiens_hsa000510.22518241
73Insulin resistance_Homo sapiens_hsa049310.20589097
74Linoleic acid metabolism_Homo sapiens_hsa005910.20583067
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.19803312
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15858606
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.14011241
78Glucagon signaling pathway_Homo sapiens_hsa049220.06962826
79Amoebiasis_Homo sapiens_hsa051460.01331464
80GABAergic synapse_Homo sapiens_hsa04727-0.2645229
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.2532244
82Ether lipid metabolism_Homo sapiens_hsa00565-0.2449899
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2429597
84Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2425821
85Sphingolipid metabolism_Homo sapiens_hsa00600-0.2407595
86Pertussis_Homo sapiens_hsa05133-0.2362782
87Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2234651
88Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2077830
89Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2035239
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.2007736
91Renin-angiotensin system_Homo sapiens_hsa04614-0.1830865
92Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1797607
93Circadian rhythm_Homo sapiens_hsa04710-0.1738622
94Hepatitis C_Homo sapiens_hsa05160-0.1693219
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1678139
96African trypanosomiasis_Homo sapiens_hsa05143-0.1467843
97Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1367645
98Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1338124
99Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1283470
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1277252
101Regulation of autophagy_Homo sapiens_hsa04140-0.1189555
102Insulin signaling pathway_Homo sapiens_hsa04910-0.1187797
103Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0793066
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0567965
105Other glycan degradation_Homo sapiens_hsa00511-0.0507199
106Mineral absorption_Homo sapiens_hsa04978-0.0387594
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0312304
108Serotonergic synapse_Homo sapiens_hsa04726-0.0240611
109AMPK signaling pathway_Homo sapiens_hsa04152-0.0053590

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