DPYS

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: Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)9.22429745
2epoxygenase P450 pathway (GO:0019373)8.74076484
3omega-hydroxylase P450 pathway (GO:0097267)8.67089759
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.57730904
5L-phenylalanine catabolic process (GO:0006559)7.57730904
6L-phenylalanine metabolic process (GO:0006558)7.24473313
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.24473313
8aromatic amino acid family catabolic process (GO:0009074)6.85210016
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.42045991
10drug metabolic process (GO:0017144)6.26386434
11oxidative demethylation (GO:0070989)6.24064969
12tryptophan catabolic process (GO:0006569)6.19805594
13indole-containing compound catabolic process (GO:0042436)6.19805594
14indolalkylamine catabolic process (GO:0046218)6.19805594
15kynurenine metabolic process (GO:0070189)6.06846497
16bile acid biosynthetic process (GO:0006699)5.99265495
17tryptophan metabolic process (GO:0006568)5.83968173
18glyoxylate metabolic process (GO:0046487)5.79833039
19urea cycle (GO:0000050)5.70918860
20urea metabolic process (GO:0019627)5.70918860
21high-density lipoprotein particle remodeling (GO:0034375)5.63047064
22negative regulation of fibrinolysis (GO:0051918)5.61890311
23alpha-linolenic acid metabolic process (GO:0036109)5.60046925
24phenylpropanoid metabolic process (GO:0009698)5.56328936
25regulation of fibrinolysis (GO:0051917)5.44006567
26peptidyl-glutamic acid carboxylation (GO:0017187)5.41273216
27protein carboxylation (GO:0018214)5.41273216
28sulfur amino acid catabolic process (GO:0000098)5.40123790
29cysteine metabolic process (GO:0006534)5.36881612
30complement activation, alternative pathway (GO:0006957)5.34006142
31regulation of protein activation cascade (GO:2000257)5.28525220
32nitrogen cycle metabolic process (GO:0071941)5.24894249
33regulation of plasminogen activation (GO:0010755)5.23044614
34serine family amino acid catabolic process (GO:0009071)5.18891747
35bile acid metabolic process (GO:0008206)5.13862980
36ethanol metabolic process (GO:0006067)5.01334299
37aromatic amino acid family metabolic process (GO:0009072)4.97957975
38regulation of cholesterol esterification (GO:0010872)4.93148220
39regulation of complement activation (GO:0030449)4.93119612
40reverse cholesterol transport (GO:0043691)4.89761236
41fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.89378434
42negative regulation of hemostasis (GO:1900047)4.84917746
43negative regulation of blood coagulation (GO:0030195)4.84917746
44regulation of triglyceride catabolic process (GO:0010896)4.83293999
45tyrosine metabolic process (GO:0006570)4.82724979
46protein-lipid complex remodeling (GO:0034368)4.81706793
47macromolecular complex remodeling (GO:0034367)4.81706793
48plasma lipoprotein particle remodeling (GO:0034369)4.81706793
49homocysteine metabolic process (GO:0050667)4.76608500
50regulation of humoral immune response (GO:0002920)4.67467736
51alpha-amino acid catabolic process (GO:1901606)4.66046379
52amino-acid betaine metabolic process (GO:0006577)4.65748003
53triglyceride homeostasis (GO:0070328)4.62662002
54acylglycerol homeostasis (GO:0055090)4.62662002
55negative regulation of cholesterol transport (GO:0032375)4.62317679
56negative regulation of sterol transport (GO:0032372)4.62317679
57phospholipid efflux (GO:0033700)4.61005599
58lysine catabolic process (GO:0006554)4.58788667
59lysine metabolic process (GO:0006553)4.58788667
60alkaloid metabolic process (GO:0009820)4.51810671
61cellular ketone body metabolic process (GO:0046950)4.51009813
62negative regulation of protein activation cascade (GO:2000258)4.49720041
63acute-phase response (GO:0006953)4.49416413
64S-adenosylmethionine metabolic process (GO:0046500)4.49405414
65glycine metabolic process (GO:0006544)4.48185037
66plasma lipoprotein particle clearance (GO:0034381)4.43981535
67bile acid and bile salt transport (GO:0015721)4.42592056
68opsonization (GO:0008228)4.42343324
69negative regulation of coagulation (GO:0050819)4.40096937
70indolalkylamine metabolic process (GO:0006586)4.39616198
71imidazole-containing compound metabolic process (GO:0052803)4.38945859
72cellular glucuronidation (GO:0052695)4.36957572
73negative regulation of wound healing (GO:0061045)4.36897171
74coenzyme catabolic process (GO:0009109)4.35879430
75amine catabolic process (GO:0009310)4.30868648
76cellular biogenic amine catabolic process (GO:0042402)4.30868648
77cellular amino acid catabolic process (GO:0009063)4.29020870
78cholesterol efflux (GO:0033344)4.25212878
79glutamate metabolic process (GO:0006536)4.22307869
80positive regulation of blood coagulation (GO:0030194)4.21738302
81positive regulation of hemostasis (GO:1900048)4.21738302
82serine family amino acid metabolic process (GO:0009069)4.21290199
83hormone catabolic process (GO:0042447)4.19416945
84benzene-containing compound metabolic process (GO:0042537)4.18831639
85aldehyde catabolic process (GO:0046185)4.11840996
86low-density lipoprotein particle remodeling (GO:0034374)4.10080392
87ethanol oxidation (GO:0006069)4.09967474
88arginine metabolic process (GO:0006525)4.04852229
89cellular modified amino acid catabolic process (GO:0042219)4.03699512
90fibrinolysis (GO:0042730)4.03274056
91serine family amino acid biosynthetic process (GO:0009070)4.02910906
92dicarboxylic acid biosynthetic process (GO:0043650)4.01715546
93plasma lipoprotein particle assembly (GO:0034377)4.00446846
94drug catabolic process (GO:0042737)3.96666707
95killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.94156171
96disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.94156171
97glucuronate metabolic process (GO:0019585)3.90642100
98uronic acid metabolic process (GO:0006063)3.90642100
99ketone body metabolic process (GO:1902224)3.90240281
100positive regulation of coagulation (GO:0050820)3.87404751
101blood coagulation, intrinsic pathway (GO:0007597)3.86470065
102cofactor catabolic process (GO:0051187)3.82907653
103positive regulation of lipid catabolic process (GO:0050996)3.80868335
104positive regulation of lipoprotein lipase activity (GO:0051006)3.80092027
105positive regulation of triglyceride lipase activity (GO:0061365)3.80092027
106negative regulation of complement activation (GO:0045916)3.80027127
107flavonoid metabolic process (GO:0009812)3.76664935
108organic acid catabolic process (GO:0016054)3.75997821
109carboxylic acid catabolic process (GO:0046395)3.75997821
110negative regulation of lipase activity (GO:0060192)3.75480284
111very-low-density lipoprotein particle assembly (GO:0034379)3.75084733
112cholesterol homeostasis (GO:0042632)3.74738549
113complement activation, classical pathway (GO:0006958)3.73615441
114regulation of bile acid biosynthetic process (GO:0070857)3.73185480
115phospholipid homeostasis (GO:0055091)3.71665859
116complement activation (GO:0006956)3.71485176
117protein activation cascade (GO:0072376)3.71223277
118sterol homeostasis (GO:0055092)3.68598297
119short-chain fatty acid metabolic process (GO:0046459)3.67125058
120response to mercury ion (GO:0046689)3.65025555
121plasma lipoprotein particle organization (GO:0071827)3.64920840
122acetyl-CoA metabolic process (GO:0006084)3.64243100
123NAD biosynthetic process (GO:0009435)3.63833395
124heme transport (GO:0015886)3.63326194
125cytolysis (GO:0019835)3.61526753
126regulation of cholesterol homeostasis (GO:2000188)3.61112221
127steroid catabolic process (GO:0006706)3.60707915
128positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.59876880
129pyridine nucleotide biosynthetic process (GO:0019363)3.58785327
130nicotinamide nucleotide biosynthetic process (GO:0019359)3.58785327
131regulation of lipoprotein particle clearance (GO:0010984)3.54960338
132xenobiotic metabolic process (GO:0006805)3.52038872
133acute inflammatory response (GO:0002526)3.50281871
134intestinal cholesterol absorption (GO:0030299)3.43315448
135positive regulation of fatty acid biosynthetic process (GO:0045723)3.41442571

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.42538945
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20844811
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.12332091
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.50790344
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.31240617
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.16553920
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.82053005
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.05505155
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.02239034
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06541919
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9937001
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.99215762
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.94491121
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.56424390
15HTT_18923047_ChIP-ChIP_STHdh_Human1.56091427
16CLOCK_20551151_ChIP-Seq_293T_Human1.50593183
17HNF4A_19822575_ChIP-Seq_HepG2_Human1.39935930
18GATA1_22025678_ChIP-Seq_K562_Human1.30896026
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.27002174
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24854676
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.24850552
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22595975
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.15755440
24IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.08247289
25ESR1_15608294_ChIP-ChIP_MCF-7_Human1.05535566
26TRIM28_21343339_ChIP-Seq_HEK293_Human1.04816759
27CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.03198671
28ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00337350
29IRF8_22096565_ChIP-ChIP_GC-B_Human0.99161673
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.97576749
31HNFA_21074721_ChIP-Seq_CACO-2_Human0.97323661
32PHF8_20622853_ChIP-Seq_HELA_Human0.93281661
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93106383
34SOX2_27498859_Chip-Seq_STOMACH_Mouse0.90657093
35GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.88934959
36NFE2_27457419_Chip-Seq_LIVER_Mouse0.87772743
37NFYA_21822215_ChIP-Seq_K562_Human0.85407781
38GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.85014231
39KAP1_22055183_ChIP-Seq_ESCs_Mouse0.83738444
40PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.83336708
41GATA6_21074721_ChIP-Seq_CACO-2_Human0.83076533
42Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.83032075
43AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82874329
44GATA4_25053715_ChIP-Seq_YYC3_Human0.80702475
45RARG_19884340_ChIP-ChIP_MEFs_Mouse0.80232306
46ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78357960
47SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.77250750
48ER_23166858_ChIP-Seq_MCF-7_Human0.76899829
49PIAS1_25552417_ChIP-Seq_VCAP_Human0.76795225
50RARA_24833708_ChIP-Seq_LIVER_Mouse0.75198228
51TP53_18474530_ChIP-ChIP_U2OS_Human0.75190577
52* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.74817838
53EZH2_27294783_Chip-Seq_NPCs_Mouse0.74264014
54RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.73867198
55SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.73647862
56SOX2_21211035_ChIP-Seq_LN229_Human0.72673780
57CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.72580349
58* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.71584840
59ZNF263_19887448_ChIP-Seq_K562_Human0.71167083
60CBX2_22325352_ChIP-Seq_293T-Rex_Human0.70487402
61SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68867340
62FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.68426579
63ETV2_25802403_ChIP-Seq_MESCs_Mouse0.68316561
64ETV1_20927104_ChIP-Seq_GIST48_Human0.66874767
65NRF2_20460467_ChIP-Seq_MEFs_Mouse0.66109259
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.66109259
67NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.66028403
68AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.64713041
69RARB_24833708_ChIP-Seq_LIVER_Mouse0.64488461
70SUZ12_27294783_Chip-Seq_NPCs_Mouse0.63673005
71ESR2_21235772_ChIP-Seq_MCF-7_Human0.63658925
72* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.63543405
73GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.62994920
74E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.62346521
75SRY_22984422_ChIP-ChIP_TESTIS_Rat0.61713488
76BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61532910
77STAT3_1855785_ChIP-Seq_MESCs_Mouse0.60871063
78RAC3_21632823_ChIP-Seq_H3396_Human0.60116300
79NFYB_21822215_ChIP-Seq_K562_Human0.59374776
80ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.58875490
81PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.58689295
82* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.58604769
83CRX_20693478_ChIP-Seq_RETINA_Mouse0.58295761
84CEBPB_22108803_ChIP-Seq_LS180_Human0.58111740
85SPI1_20517297_ChIP-Seq_HL60_Human0.56908096
86TCF4_18268006_ChIP-ChIP_LS174T_Human0.56819273
87* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.54531087
88RBPJ_21746931_ChIP-Seq_IB4_Human0.54423898
89OCT4_21477851_ChIP-Seq_ESCs_Mouse0.53823004
90MYC_19829295_ChIP-Seq_ESCs_Human0.53699163
91OCT4_18555785_Chip-Seq_ESCs_Mouse0.53090063
92RUNX1_27457419_Chip-Seq_LIVER_Mouse0.52910534
93ESRRB_18555785_Chip-Seq_ESCs_Mouse0.52680492
94SOX2_20726797_ChIP-Seq_SW620_Human0.52429546
95SMAD1_18555785_Chip-Seq_ESCs_Mouse0.51848496
96AR_20517297_ChIP-Seq_VCAP_Human0.51625848
97FOXA1_25552417_ChIP-Seq_VCAP_Human0.51573094
98FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51344006
99ESET_19884257_ChIP-Seq_ESCs_Mouse0.51265037
100POU3F2_20337985_ChIP-ChIP_501MEL_Human0.51160107
101EGR1_19032775_ChIP-ChIP_M12_Human0.51142204
102KLF5_20875108_ChIP-Seq_MESCs_Mouse0.50912920
103CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.50461324
104FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.50395634
105STAT1_17558387_ChIP-Seq_HELA_Human0.49740376
106* MYC_19915707_ChIP-ChIP_AK7_Human0.49223818
107LXR_22292898_ChIP-Seq_THP-1_Human0.49018963
108* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.47992159
109EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.47986357
110PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46711897
111PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.46430650
112CBP_21632823_ChIP-Seq_H3396_Human0.45973077
113CDX2_20551321_ChIP-Seq_CACO-2_Human0.44158987
114P53_21459846_ChIP-Seq_SAOS-2_Human0.43587419
115ESR1_21235772_ChIP-Seq_MCF-7_Human0.43324968
116PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.41957216
117FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41613177
118STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.40225123
119FOXO3_23340844_ChIP-Seq_DLD1_Human0.40027333
120GATA6_25053715_ChIP-Seq_YYC3_Human0.39563522
121GATA1_19941827_ChIP-Seq_MEL_Mouse0.39540947
122TAF15_26573619_Chip-Seq_HEK293_Human0.39228662
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.39125160
124GATA1_19941826_ChIP-Seq_K562_Human0.38698560
125PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38221342
126* TAF2_19829295_ChIP-Seq_ESCs_Human0.37572537
127GATA2_19941826_ChIP-Seq_K562_Human0.37280406
128LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.36820667
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.36706625
130* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.36697944
131SPI1_26923725_Chip-Seq_HPCs_Mouse0.36662155
132CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.36519079
133ERG_21242973_ChIP-ChIP_JURKAT_Human0.35627591
134* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.35474565
135BCAT_22108803_ChIP-Seq_LS180_Human0.35347215
136SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.35086518
137ESR1_20079471_ChIP-ChIP_T-47D_Human0.34268399
138FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.34226904
139FOXH1_21741376_ChIP-Seq_EPCs_Human0.33728706
140CDX2_22108803_ChIP-Seq_LS180_Human0.33203627
141IRF1_19129219_ChIP-ChIP_H3396_Human0.32873618
142ERG_20517297_ChIP-Seq_VCAP_Human0.32827412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.32727270
2MP0005360_urolithiasis7.50672256
3MP0005085_abnormal_gallbladder_physiolo6.42500174
4MP0005365_abnormal_bile_salt6.15378284
5MP0008875_abnormal_xenobiotic_pharmacok5.24012859
6MP0003806_abnormal_nucleotide_metabolis4.39777026
7MP0003252_abnormal_bile_duct3.89052039
8MP0010329_abnormal_lipoprotein_level3.56829943
9MP0009840_abnormal_foam_cell3.29720362
10MP0005083_abnormal_biliary_tract3.05565550
11MP0003195_calcinosis2.89187758
12MP0005332_abnormal_amino_acid2.75608904
13MP0001666_abnormal_nutrient_absorption2.54553360
14MP0003191_abnormal_cellular_cholesterol2.28167613
15MP0000609_abnormal_liver_physiology2.16104898
16MP0004019_abnormal_vitamin_homeostasis2.13690080
17MP0002118_abnormal_lipid_homeostasis2.08406198
18MP0002138_abnormal_hepatobiliary_system1.95512869
19MP0003868_abnormal_feces_composition1.88709745
20MP0005319_abnormal_enzyme/_coenzyme1.84726302
21MP0001764_abnormal_homeostasis1.68634256
22MP0009697_abnormal_copulation1.60099410
23MP0005584_abnormal_enzyme/coenzyme_acti1.56686037
24MP0005451_abnormal_body_composition1.51160654
25MP0003186_abnormal_redox_activity1.39477263
26MP0003011_delayed_dark_adaptation1.33895456
27MP0003656_abnormal_erythrocyte_physiolo1.24273859
28MP0009643_abnormal_urine_homeostasis1.22615322
29MP0000598_abnormal_liver_morphology1.17677712
30MP0005647_abnormal_sex_gland1.14720177
31MP0003705_abnormal_hypodermis_morpholog1.14000186
32MP0009764_decreased_sensitivity_to1.12144650
33MP0000604_amyloidosis1.06889288
34MP0009763_increased_sensitivity_to1.05030869
35MP0002254_reproductive_system_inflammat0.99568161
36MP0005187_abnormal_penis_morphology0.94117279
37MP0008469_abnormal_protein_level0.92374111
38MP0010368_abnormal_lymphatic_system0.91963545
39MP0005636_abnormal_mineral_homeostasis0.89793546
40MP0005408_hypopigmentation0.88422164
41MP0009642_abnormal_blood_homeostasis0.86898594
42MP0001915_intracranial_hemorrhage0.83817187
43MP0006036_abnormal_mitochondrial_physio0.82514106
44MP0005376_homeostasis/metabolism_phenot0.81991676
45MP0009765_abnormal_xenobiotic_induced0.81028613
46MP0002876_abnormal_thyroid_physiology0.77356984
47MP0002078_abnormal_glucose_homeostasis0.76435118
48MP0005670_abnormal_white_adipose0.75190365
49MP0005084_abnormal_gallbladder_morpholo0.73934073
50MP0002282_abnormal_trachea_morphology0.72746310
51MP0002971_abnormal_brown_adipose0.69757931
52MP0003690_abnormal_glial_cell0.69661071
53MP0005266_abnormal_metabolism0.69310799
54MP0005535_abnormal_body_temperature0.67700194
55MP0005334_abnormal_fat_pad0.67554274
56MP0009053_abnormal_anal_canal0.67209735
57MP0005220_abnormal_exocrine_pancreas0.67117631
58MP0004130_abnormal_muscle_cell0.66751471
59MP0003879_abnormal_hair_cell0.64681723
60MP0001661_extended_life_span0.64335900
61MP0003329_amyloid_beta_deposits0.59113780
62MP0000639_abnormal_adrenal_gland0.58781443
63MP0001756_abnormal_urination0.57731978
64MP0006035_abnormal_mitochondrial_morpho0.56913864
65MP0005464_abnormal_platelet_physiology0.55990040
66MP0002249_abnormal_larynx_morphology0.55341648
67MP0005448_abnormal_energy_balance0.53378957
68MP0003436_decreased_susceptibility_to0.51620460
69MP0003718_maternal_effect0.51288709
70MP0005395_other_phenotype0.50767724
71MP0004782_abnormal_surfactant_physiolog0.47902677
72MP0003724_increased_susceptibility_to0.47344120
73MP0008873_increased_physiological_sensi0.46581963
74MP0008874_decreased_physiological_sensi0.46196439
75MP0002136_abnormal_kidney_physiology0.46056678
76MP0003638_abnormal_response/metabolism_0.45670286
77MP0002928_abnormal_bile_duct0.44579999
78MP0006082_CNS_inflammation0.44577265
79MP0003075_altered_response_to0.44405681
80MP0002822_catalepsy0.43834281
81MP0009785_altered_susceptibility_to0.43315035
82MP0005023_abnormal_wound_healing0.42753735
83MP0005248_abnormal_Harderian_gland0.42647750
84MP0005166_decreased_susceptibility_to0.40559139
85MP0003953_abnormal_hormone_level0.39363001
86MP0008872_abnormal_physiological_respon0.38552928
87MP0002837_dystrophic_cardiac_calcinosis0.36855534
88MP0001853_heart_inflammation0.36491686
89MP0004381_abnormal_hair_follicle0.35567427
90MP0005666_abnormal_adipose_tissue0.33923065
91MP0009672_abnormal_birth_weight0.33454390
92MP0009115_abnormal_fat_cell0.33277474
93MP0000249_abnormal_blood_vessel0.33173121
94MP0004883_abnormal_blood_vessel0.32760675
95MP0010386_abnormal_urinary_bladder0.32227051
96MP0000579_abnormal_nail_morphology0.32220621
97MP0001845_abnormal_inflammatory_respons0.32160655
98MP0002168_other_aberrant_phenotype0.31541023
99MP0001243_abnormal_dermal_layer0.30558388
100MP0002796_impaired_skin_barrier0.29926711
101MP0002970_abnormal_white_adipose0.28890196
102MP0002132_abnormal_respiratory_system0.28827565
103MP0000230_abnormal_systemic_arterial0.28566803
104MP0002332_abnormal_exercise_endurance0.28280950
105MP0001881_abnormal_mammary_gland0.28229476
106MP0005167_abnormal_blood-brain_barrier0.28134480
107MP0005164_abnormal_response_to0.27125075
108MP0005058_abnormal_lysosome_morphology0.25500279
109MP0003959_abnormal_lean_body0.25036460
110MP0000467_abnormal_esophagus_morphology0.24789366
111MP0002090_abnormal_vision0.23748230
112MP0005197_abnormal_uvea_morphology0.21613201
113MP0004272_abnormal_basement_membrane0.20711295
114MP0001986_abnormal_taste_sensitivity0.20464291
115MP0001851_eye_inflammation0.19706618
116MP0001545_abnormal_hematopoietic_system0.19391402
117MP0005397_hematopoietic_system_phenotyp0.19391402
118MP0004043_abnormal_pH_regulation0.18766225
119MP0002128_abnormal_blood_circulation0.17856692
120MP0000566_synostosis0.17566321
121MP0003633_abnormal_nervous_system0.15648627

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.46606167
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.45177433
3Intrahepatic cholestasis (HP:0001406)7.33714254
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.76320314
5Prolonged partial thromboplastin time (HP:0003645)6.64157862
6Hypobetalipoproteinemia (HP:0003563)6.47021223
7Xanthomatosis (HP:0000991)6.29801045
8Hyperlipoproteinemia (HP:0010980)5.60312908
9Complement deficiency (HP:0004431)5.31224412
10Joint hemorrhage (HP:0005261)4.88289199
11Hypolipoproteinemia (HP:0010981)4.81578942
12Hyperammonemia (HP:0001987)4.62694879
13Epidermoid cyst (HP:0200040)4.52940986
14Hyperglycinemia (HP:0002154)4.47521894
15Abnormality of the common coagulation pathway (HP:0010990)4.43931293
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.40361673
17Abnormality of methionine metabolism (HP:0010901)4.34958740
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.29199533
19Ketosis (HP:0001946)4.25096675
20Hypoalphalipoproteinemia (HP:0003233)4.20000728
21Abnormality of glutamine family amino acid metabolism (HP:0010902)4.17794367
22Abnormality of aspartate family amino acid metabolism (HP:0010899)4.16764161
23Fat malabsorption (HP:0002630)4.16424492
24Hyperglycinuria (HP:0003108)3.98762758
25Abnormality of glycine metabolism (HP:0010895)3.95143615
26Abnormality of serine family amino acid metabolism (HP:0010894)3.95143615
27Abnormality of complement system (HP:0005339)3.90071501
28Hypoglycemic coma (HP:0001325)3.86284678
29Abnormality of the intrinsic pathway (HP:0010989)3.77602509
30Conjugated hyperbilirubinemia (HP:0002908)3.70820463
31Hypercholesterolemia (HP:0003124)3.68076246
32Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.38688309
33Abnormality of fatty-acid metabolism (HP:0004359)3.37147861
34Hyperbilirubinemia (HP:0002904)3.34841641
35Steatorrhea (HP:0002570)3.17477051
36* Abnormality of pyrimidine metabolism (HP:0004353)3.14637667
37Delayed CNS myelination (HP:0002188)3.14445955
38Abnormality of serum amino acid levels (HP:0003112)3.11015739
39Ketoacidosis (HP:0001993)3.01115801
40Hepatocellular carcinoma (HP:0001402)3.00478328
41Myocardial infarction (HP:0001658)2.99911334
42Spontaneous abortion (HP:0005268)2.99801720
43Hypochromic microcytic anemia (HP:0004840)2.99497946
44Osteomalacia (HP:0002749)2.97434268
45* Abnormality of nucleobase metabolism (HP:0010932)2.82667421
46Reduced antithrombin III activity (HP:0001976)2.80472748
47Skin nodule (HP:0200036)2.77689126
48Systemic lupus erythematosus (HP:0002725)2.76944512
49Abnormality of purine metabolism (HP:0004352)2.68135492
50Neonatal hypoglycemia (HP:0001998)2.64353678
51* Metabolic acidosis (HP:0001942)2.61513423
52Vascular calcification (HP:0004934)2.60452546
53Dicarboxylic aciduria (HP:0003215)2.60232172
54Abnormality of dicarboxylic acid metabolism (HP:0010995)2.60232172
55Purpura (HP:0000979)2.56534155
56Fair hair (HP:0002286)2.56272520
57Glomerulonephritis (HP:0000099)2.52786765
58Spastic diplegia (HP:0001264)2.51954819
59* Lethargy (HP:0001254)2.51071901
60Pulmonary embolism (HP:0002204)2.50575081
61Acanthocytosis (HP:0001927)2.49314032
62Recurrent gram-negative bacterial infections (HP:0005420)2.49155220
63Hypoglycemic seizures (HP:0002173)2.45703456
64Abnormal gallbladder morphology (HP:0012437)2.45503985
65Cerebral edema (HP:0002181)2.43556017
66Gout (HP:0001997)2.41750464
67Mitral stenosis (HP:0001718)2.41143504
68Cholelithiasis (HP:0001081)2.39370855
69Irritability (HP:0000737)2.38160286
70Neonatal onset (HP:0003623)2.34574918
71Abnormal gallbladder physiology (HP:0012438)2.30743839
72Cholecystitis (HP:0001082)2.30743839
73Malnutrition (HP:0004395)2.30471231
74Cardiovascular calcification (HP:0011915)2.30132373
75Amyloidosis (HP:0011034)2.28548174
76Elevated alkaline phosphatase (HP:0003155)2.24578280
77Esophageal varix (HP:0002040)2.23599709
78Gingival bleeding (HP:0000225)2.23080922
79Menorrhagia (HP:0000132)2.19077703
80Hyperphosphaturia (HP:0003109)2.18077337
81Pancreatitis (HP:0001733)2.16363904
82Sensorimotor neuropathy (HP:0007141)2.14053739
83Brushfield spots (HP:0001088)2.11413292
84Thrombophlebitis (HP:0004418)2.10393021
85Late onset (HP:0003584)2.09491475
86Arthropathy (HP:0003040)2.08934717
87Generalized aminoaciduria (HP:0002909)2.08001128
88Enlarged kidneys (HP:0000105)2.07959129
89Vomiting (HP:0002013)2.07252606
90Hemorrhage of the eye (HP:0011885)2.04700611
91Opisthotonus (HP:0002179)2.04568923
92Abnormality of alkaline phosphatase activity (HP:0004379)2.03770148
93Abnormality of the Achilles tendon (HP:0005109)2.00279617
94Poikilocytosis (HP:0004447)1.99788494
95Glycosuria (HP:0003076)1.99513049
96Abnormality of urine glucose concentration (HP:0011016)1.99513049
97Abnormality of the gallbladder (HP:0005264)1.98499331
98Hyperinsulinemic hypoglycemia (HP:0000825)1.98269805
99Rickets (HP:0002748)1.97120948
100Abnormal biliary tract physiology (HP:0012439)1.94968259
101Bile duct proliferation (HP:0001408)1.94968259
102Abnormality of iron homeostasis (HP:0011031)1.91664550
103Abnormality of proline metabolism (HP:0010907)1.89686524
104Hydroxyprolinuria (HP:0003080)1.89686524
105Abnormal cartilage morphology (HP:0002763)1.88783375
106Abnormality of transition element cation homeostasis (HP:0011030)1.88567316
107Renal cortical cysts (HP:0000803)1.88184434
108Increased serum ferritin (HP:0003281)1.88150875
109Hypophosphatemic rickets (HP:0004912)1.85207142
110Gangrene (HP:0100758)1.84515194
111Abnormal enzyme/coenzyme activity (HP:0012379)1.82931240
112Alkalosis (HP:0001948)1.82673156
113Elevated hepatic transaminases (HP:0002910)1.82056294
114Status epilepticus (HP:0002133)1.79786489
115Nephritis (HP:0000123)1.78721240
116Atrioventricular block (HP:0001678)1.77990378
117Generalized hypopigmentation of hair (HP:0011358)1.76915323
118Abnormal urine phosphate concentration (HP:0012599)1.76096586
119Abnormality of vitamin metabolism (HP:0100508)1.75965627
120Epistaxis (HP:0000421)1.75394904
121Joint swelling (HP:0001386)1.72211346
122Acute hepatic failure (HP:0006554)1.70718755
123Increased mean platelet volume (HP:0011877)1.68880873
124Bifid scrotum (HP:0000048)1.62833646
125Cerebral palsy (HP:0100021)1.55528031
126Blue irides (HP:0000635)1.54044233
127Hypophosphatemia (HP:0002148)1.53904934
128Impaired platelet aggregation (HP:0003540)1.53171034
129Abnormal platelet function (HP:0011869)1.53171034

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.31086796
2FGFR44.62723299
3SIK14.53644339
4ERN14.26107601
5TAOK33.06730179
6WNK33.06373070
7ERBB42.97687262
8INSRR2.84879791
9PIK3CA2.38626774
10MAP2K42.31553595
11PKN22.18843712
12MST1R2.13375000
13FLT31.95504595
14PIK3CG1.82297871
15MAPK111.82098679
16TYK21.79147688
17ABL21.62818341
18LATS11.59154243
19TRIB31.55585400
20PRPF4B1.51338306
21DAPK21.46133347
22NEK91.39070961
23MAP3K141.36604781
24PTK61.35074309
25MYLK1.33943904
26KDR1.27789118
27TNK21.26930579
28PINK11.26706862
29FRK1.26395102
30JAK21.24665821
31NLK1.20964211
32NTRK31.20611991
33TBK11.19823883
34FGFR21.19075471
35MAP2K31.11309632
36MAP3K71.10465205
37OXSR11.08853565
38PRKG11.06492403
39PRKAA21.06208077
40JAK11.03533995
41GRK61.03337469
42PDK21.02399363
43MAP3K30.97886988
44MAPK40.96590220
45ARAF0.96329130
46ERBB20.96063345
47PRKACA0.95741806
48STK38L0.95422687
49MAP3K100.94448749
50PRKCZ0.93382797
51PBK0.93189228
52BLK0.91301177
53MAP3K110.91100270
54MAP3K20.87621310
55MAPK150.86422304
56CDK60.85420777
57IRAK30.84844255
58MET0.84588467
59EPHB10.82899427
60EPHA30.81808432
61FER0.80845887
62CSK0.79142454
63CSNK1D0.77647775
64SCYL20.76934346
65MAPK120.76354819
66PRKACG0.74660055
67SGK10.73156231
68MUSK0.70830649
69TIE10.70533987
70DYRK1B0.70466701
71STK380.67316902
72IKBKE0.65931897
73GSK3A0.65727093
74PRKCB0.65717109
75MAP2K60.65460816
76ZAP700.65052817
77CAMK2G0.64027269
78RPS6KA30.63231869
79RIPK10.62981994
80PRKAA10.61435319
81MAP3K130.60797166
82MAPK70.58741987
83FGFR30.58147011
84SGK30.57639735
85CSF1R0.56719698
86CAMKK20.56611260
87CAMK1D0.56538475
88TAOK20.55359097
89PRKACB0.53724472
90MAP3K120.53270079
91PRKCQ0.52005239
92MAP3K50.51575936
93CAMKK10.51227364
94PDPK10.49636758
95TGFBR20.49582846
96ACVR1B0.48052508
97MAP3K60.46600924
98CDK40.46492860
99EPHA40.46064938
100PTK20.45823148
101CSNK1G10.45313816
102GRK10.44919116
103IGF1R0.42997833
104SGK20.40295211
105SRC0.40079547
106CSNK1E0.39892845
107MAP2K10.39708911
108CSNK2A10.36452488
109PRKCG0.36279088
110RET0.36119065
111EGFR0.34692671
112CSNK1A10.34286126
113ICK0.33619782
114CSNK2A20.33613174
115MTOR0.31071088
116MAPK30.30888007
117PKN10.30170329
118PDK10.29902094
119AKT20.29789344
120IRAK10.29716772
121CAMK40.29210957
122AKT30.29000999
123IRAK20.28297607
124CHUK0.27633415
125BMX0.27632263
126LATS20.25338009
127ABL10.25269124
128PRKCA0.25128841
129MAP3K10.24533319
130SGK2230.24418084
131SGK4940.24418084
132IKBKB0.22989705
133CSNK1G20.22625619
134MAP2K20.21902004
135CSNK1G30.21099534

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.54377059
2Nitrogen metabolism_Homo sapiens_hsa009103.55299364
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.45771783
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.37176695
5Arginine biosynthesis_Homo sapiens_hsa002203.06334806
6Complement and coagulation cascades_Homo sapiens_hsa046102.76344210
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.69115412
8Tryptophan metabolism_Homo sapiens_hsa003802.69033373
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.63299292
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54852507
11Fatty acid degradation_Homo sapiens_hsa000712.47987189
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.38561552
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.35509928
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.20154763
15Butanoate metabolism_Homo sapiens_hsa006502.16139224
16Peroxisome_Homo sapiens_hsa041462.09588245
17Chemical carcinogenesis_Homo sapiens_hsa052042.01724702
18Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.00221056
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.99529749
20Histidine metabolism_Homo sapiens_hsa003401.91174534
21Propanoate metabolism_Homo sapiens_hsa006401.90591656
22PPAR signaling pathway_Homo sapiens_hsa033201.85596531
23Staphylococcus aureus infection_Homo sapiens_hsa051501.81564411
24Fatty acid metabolism_Homo sapiens_hsa012121.78005656
25Caffeine metabolism_Homo sapiens_hsa002321.77251956
26Retinol metabolism_Homo sapiens_hsa008301.75432636
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74253287
28* Drug metabolism - other enzymes_Homo sapiens_hsa009831.66096219
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.61946374
30Selenocompound metabolism_Homo sapiens_hsa004501.58508858
31Phenylalanine metabolism_Homo sapiens_hsa003601.56457008
32* beta-Alanine metabolism_Homo sapiens_hsa004101.54689211
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51595384
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50505883
35Bile secretion_Homo sapiens_hsa049761.48609606
36Tyrosine metabolism_Homo sapiens_hsa003501.43882962
37Sulfur metabolism_Homo sapiens_hsa009201.36860975
38* Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.35545642
39Pyruvate metabolism_Homo sapiens_hsa006201.34192934
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.33148683
41Starch and sucrose metabolism_Homo sapiens_hsa005001.30531747
42Fatty acid elongation_Homo sapiens_hsa000621.30403033
43Folate biosynthesis_Homo sapiens_hsa007901.24814684
44Biosynthesis of amino acids_Homo sapiens_hsa012301.20049386
45ABC transporters_Homo sapiens_hsa020101.19244986
46Steroid biosynthesis_Homo sapiens_hsa001001.18695277
47Fat digestion and absorption_Homo sapiens_hsa049751.13852639
48Carbon metabolism_Homo sapiens_hsa012001.11385252
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.02384927
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.01445885
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.00109792
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.98355226
53Arginine and proline metabolism_Homo sapiens_hsa003300.96964187
54Sulfur relay system_Homo sapiens_hsa041220.96043497
55Vitamin B6 metabolism_Homo sapiens_hsa007500.93214359
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87744238
57Vitamin digestion and absorption_Homo sapiens_hsa049770.84228964
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81092427
59One carbon pool by folate_Homo sapiens_hsa006700.80562615
60Lysine degradation_Homo sapiens_hsa003100.79594672
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70618668
62Glutathione metabolism_Homo sapiens_hsa004800.67640768
63Glycerolipid metabolism_Homo sapiens_hsa005610.65707466
64Pentose phosphate pathway_Homo sapiens_hsa000300.56676936
65Fatty acid biosynthesis_Homo sapiens_hsa000610.51208003
66* Metabolic pathways_Homo sapiens_hsa011000.45415043
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43943703
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43931699
69Prion diseases_Homo sapiens_hsa050200.39183798
70Galactose metabolism_Homo sapiens_hsa000520.27845449
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25445859
72Linoleic acid metabolism_Homo sapiens_hsa005910.24120288
73Fructose and mannose metabolism_Homo sapiens_hsa000510.23260243
74Insulin resistance_Homo sapiens_hsa049310.22136480
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.21234355
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18246087
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.13608985
78Glucagon signaling pathway_Homo sapiens_hsa049220.06516261
79Serotonergic synapse_Homo sapiens_hsa047260.03529002
80N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2714258
81Ether lipid metabolism_Homo sapiens_hsa00565-0.2501292
82Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2412388
83Sphingolipid metabolism_Homo sapiens_hsa00600-0.2332577
84Amoebiasis_Homo sapiens_hsa05146-0.2260076
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2183852
86Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2165213
87RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.2157198
88Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2087297
89Pertussis_Homo sapiens_hsa05133-0.2085719
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2028820
91Renin-angiotensin system_Homo sapiens_hsa04614-0.1908620
92Circadian rhythm_Homo sapiens_hsa04710-0.1839311
93Hepatitis C_Homo sapiens_hsa05160-0.1794905
94Type II diabetes mellitus_Homo sapiens_hsa04930-0.1794569
95Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1693447
96Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1507326
97Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1456186
98Regulation of autophagy_Homo sapiens_hsa04140-0.1397497
99Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1348149
100Insulin signaling pathway_Homo sapiens_hsa04910-0.1266300
101Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1171508
102Mineral absorption_Homo sapiens_hsa04978-0.0881600
103African trypanosomiasis_Homo sapiens_hsa05143-0.0831212
104Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0764649
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0640500
106Other glycan degradation_Homo sapiens_hsa00511-0.0339986
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0331575
108AMPK signaling pathway_Homo sapiens_hsa04152-0.0069571

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