OTC

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 nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)9.04469306
2exogenous drug catabolic process (GO:0042738)8.77922199
3omega-hydroxylase P450 pathway (GO:0097267)7.74522344
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.63291231
5L-phenylalanine catabolic process (GO:0006559)7.63291231
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.31333196
7L-phenylalanine metabolic process (GO:0006558)7.31333196
8aromatic amino acid family catabolic process (GO:0009074)6.89112300
9drug metabolic process (GO:0017144)6.72661354
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.38972779
11indole-containing compound catabolic process (GO:0042436)6.23005318
12indolalkylamine catabolic process (GO:0046218)6.23005318
13tryptophan catabolic process (GO:0006569)6.23005318
14kynurenine metabolic process (GO:0070189)6.09539025
15bile acid biosynthetic process (GO:0006699)6.03883539
16tryptophan metabolic process (GO:0006568)5.86677692
17glyoxylate metabolic process (GO:0046487)5.80160034
18oxidative demethylation (GO:0070989)5.72449698
19negative regulation of fibrinolysis (GO:0051918)5.63332423
20high-density lipoprotein particle remodeling (GO:0034375)5.59568078
21alpha-linolenic acid metabolic process (GO:0036109)5.59529536
22phenylpropanoid metabolic process (GO:0009698)5.56627622
23ethanol metabolic process (GO:0006067)5.45924935
24regulation of fibrinolysis (GO:0051917)5.43354376
25complement activation, alternative pathway (GO:0006957)5.40167671
26cysteine metabolic process (GO:0006534)5.39789259
27protein carboxylation (GO:0018214)5.38074887
28peptidyl-glutamic acid carboxylation (GO:0017187)5.38074887
29regulation of protein activation cascade (GO:2000257)5.37977463
30sulfur amino acid catabolic process (GO:0000098)5.37946690
31* urea cycle (GO:0000050)5.35878437
32* urea metabolic process (GO:0019627)5.35878437
33hormone catabolic process (GO:0042447)5.21371811
34bile acid metabolic process (GO:0008206)5.16844279
35serine family amino acid catabolic process (GO:0009071)5.15812216
36alkaloid metabolic process (GO:0009820)5.13200988
37fat-soluble vitamin biosynthetic process (GO:0042362)5.08098561
38regulation of complement activation (GO:0030449)5.03066619
39aromatic amino acid family metabolic process (GO:0009072)5.01867249
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.91814594
41regulation of triglyceride catabolic process (GO:0010896)4.90892589
42reverse cholesterol transport (GO:0043691)4.89951893
43homocysteine metabolic process (GO:0050667)4.89636124
44* nitrogen cycle metabolic process (GO:0071941)4.88560794
45regulation of cholesterol esterification (GO:0010872)4.87567861
46tyrosine metabolic process (GO:0006570)4.83320221
47protein-lipid complex remodeling (GO:0034368)4.80271319
48macromolecular complex remodeling (GO:0034367)4.80271319
49plasma lipoprotein particle remodeling (GO:0034369)4.80271319
50acylglycerol homeostasis (GO:0055090)4.66438437
51triglyceride homeostasis (GO:0070328)4.66438437
52lysine catabolic process (GO:0006554)4.64275097
53lysine metabolic process (GO:0006553)4.64275097
54amino-acid betaine metabolic process (GO:0006577)4.63705290
55* alpha-amino acid catabolic process (GO:1901606)4.62485724
56phospholipid efflux (GO:0033700)4.61577791
57negative regulation of sterol transport (GO:0032372)4.60242968
58negative regulation of cholesterol transport (GO:0032375)4.60242968
59negative regulation of hemostasis (GO:1900047)4.54691389
60negative regulation of blood coagulation (GO:0030195)4.54691389
61bile acid and bile salt transport (GO:0015721)4.50580714
62cellular ketone body metabolic process (GO:0046950)4.50091142
63glycine metabolic process (GO:0006544)4.48904108
64regulation of plasminogen activation (GO:0010755)4.47847972
65flavonoid metabolic process (GO:0009812)4.42278450
66indolalkylamine metabolic process (GO:0006586)4.42017143
67plasma lipoprotein particle clearance (GO:0034381)4.41136070
68coenzyme catabolic process (GO:0009109)4.39750065
69imidazole-containing compound metabolic process (GO:0052803)4.39119783
70cellular glucuronidation (GO:0052695)4.37412134
71cellular biogenic amine catabolic process (GO:0042402)4.32706006
72amine catabolic process (GO:0009310)4.32706006
73cholesterol efflux (GO:0033344)4.27362712
74glutamate metabolic process (GO:0006536)4.26308709
75* cellular amino acid catabolic process (GO:0009063)4.26164535
76serine family amino acid metabolic process (GO:0009069)4.22954758
77ethanol oxidation (GO:0006069)4.16518739
78negative regulation of coagulation (GO:0050819)4.15327021
79benzene-containing compound metabolic process (GO:0042537)4.14531648
80heme transport (GO:0015886)4.11063777
81negative regulation of wound healing (GO:0061045)4.07798811
82serine family amino acid biosynthetic process (GO:0009070)4.07456227
83cellular modified amino acid catabolic process (GO:0042219)4.07212629
84dicarboxylic acid biosynthetic process (GO:0043650)4.07109404
85plasma lipoprotein particle assembly (GO:0034377)4.05735591
86low-density lipoprotein particle remodeling (GO:0034374)4.05529642
87aldehyde catabolic process (GO:0046185)4.04387308
88fibrinolysis (GO:0042730)3.99474232
89drug catabolic process (GO:0042737)3.96219849
90ketone body metabolic process (GO:1902224)3.89664537
91uronic acid metabolic process (GO:0006063)3.88093397
92glucuronate metabolic process (GO:0019585)3.88093397
93blood coagulation, intrinsic pathway (GO:0007597)3.87050503
94regulation of bile acid biosynthetic process (GO:0070857)3.86570955
95regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.86504985
96very-low-density lipoprotein particle assembly (GO:0034379)3.83082399
97positive regulation of triglyceride lipase activity (GO:0061365)3.82521208
98positive regulation of lipoprotein lipase activity (GO:0051006)3.82521208
99S-adenosylmethionine metabolic process (GO:0046500)3.80531517
100drug transmembrane transport (GO:0006855)3.80314256
101cofactor catabolic process (GO:0051187)3.79873787
102complement activation, classical pathway (GO:0006958)3.79810032
103cholesterol homeostasis (GO:0042632)3.79624795
104phospholipid homeostasis (GO:0055091)3.79096337
105positive regulation of lipid catabolic process (GO:0050996)3.78243182
106acute-phase response (GO:0006953)3.76770314
107complement activation (GO:0006956)3.76479498
108cytolysis (GO:0019835)3.75455651
109protein activation cascade (GO:0072376)3.74405897
110xenobiotic metabolic process (GO:0006805)3.74144050
111* carboxylic acid catabolic process (GO:0046395)3.73661447
112* organic acid catabolic process (GO:0016054)3.73661447
113sterol homeostasis (GO:0055092)3.73375256
114negative regulation of lipase activity (GO:0060192)3.72653691
115short-chain fatty acid metabolic process (GO:0046459)3.70774495
116acetyl-CoA metabolic process (GO:0006084)3.70220883
117primary alcohol catabolic process (GO:0034310)3.67248547
118regulation of humoral immune response (GO:0002920)3.67028169
119angiotensin maturation (GO:0002003)3.66136631
120plasma lipoprotein particle organization (GO:0071827)3.65661229
121intestinal cholesterol absorption (GO:0030299)3.64631092
122intestinal absorption (GO:0050892)3.64568550
123daunorubicin metabolic process (GO:0044597)3.64467894
124polyketide metabolic process (GO:0030638)3.64467894
125doxorubicin metabolic process (GO:0044598)3.64467894
126protein-lipid complex assembly (GO:0065005)3.63879974
127regulation of cholesterol homeostasis (GO:2000188)3.63403605
128fructose metabolic process (GO:0006000)3.61107190
129* arginine metabolic process (GO:0006525)3.61020130
130steroid catabolic process (GO:0006706)3.58798147
131positive regulation of blood coagulation (GO:0030194)3.58729429
132positive regulation of hemostasis (GO:1900048)3.58729429
133NAD biosynthetic process (GO:0009435)3.58022864
134nicotinamide nucleotide biosynthetic process (GO:0019359)3.55101442
135drug transport (GO:0015893)3.54337275
136NADH metabolic process (GO:0006734)3.52737845
137negative regulation of protein activation cascade (GO:2000258)3.47222227
138lipoprotein metabolic process (GO:0042157)3.40258017
139positive regulation of coagulation (GO:0050820)3.34044157
140lipoprotein transport (GO:0042953)3.31944118
141primary alcohol metabolic process (GO:0034308)3.30563665

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.39747770
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.22184381
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.13689331
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.52210492
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.26765026
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.12487607
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.78024338
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.05570255
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.00909004
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08530078
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.06567080
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9841931
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93458521
14TRIM28_21343339_ChIP-Seq_HEK293_Human1.64760751
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.61229348
16HTT_18923047_ChIP-ChIP_STHdh_Human1.60297902
17CLOCK_20551151_ChIP-Seq_293T_Human1.49948405
18GATA1_22025678_ChIP-Seq_K562_Human1.43672767
19* HNF4A_19822575_ChIP-Seq_HepG2_Human1.42012538
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39795513
21BP1_19119308_ChIP-ChIP_Hs578T_Human1.21170794
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.20415019
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.20021580
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19041672
25STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15767774
26ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03872718
27FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03824908
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.03515176
29CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00671444
30ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00267621
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98232643
32TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.97639809
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95733975
34CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95383063
35HNFA_21074721_ChIP-Seq_CACO-2_Human0.91485969
36CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.87902227
37TCF4_18268006_ChIP-ChIP_LS174T_Human0.87307725
38GATA4_25053715_ChIP-Seq_YYC3_Human0.86261512
39PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84431446
40AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83394449
41ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.83211380
42IRF8_22096565_ChIP-ChIP_GC-B_Human0.83038514
43KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80509704
44ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80454250
45ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80161764
46GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.78649148
47SOX2_21211035_ChIP-Seq_LN229_Human0.78393434
48PHF8_20622853_ChIP-Seq_HELA_Human0.78052071
49RARG_19884340_ChIP-ChIP_MEFs_Mouse0.77996484
50SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75644041
51SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74571012
52RARA_24833708_ChIP-Seq_LIVER_Mouse0.74283353
53Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.71643246
54* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.71506333
55SRY_22984422_ChIP-ChIP_TESTIS_Rat0.70986210
56NFYA_21822215_ChIP-Seq_K562_Human0.70511318
57ZNF263_19887448_ChIP-Seq_K562_Human0.70273816
58SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.70102655
59CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69219622
60AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.68276089
61GATA6_21074721_ChIP-Seq_CACO-2_Human0.68145728
62SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68062474
63EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.67214821
64EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.66811477
65CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.66367015
66SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.66019883
67SA1_27219007_Chip-Seq_Bcells_Human0.65878558
68TP53_18474530_ChIP-ChIP_U2OS_Human0.65685120
69NRF2_20460467_ChIP-Seq_MEFs_Mouse0.65283156
70NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.65283156
71NFE2_27457419_Chip-Seq_LIVER_Mouse0.64588338
72RARB_24833708_ChIP-Seq_LIVER_Mouse0.63767275
73ESR2_21235772_ChIP-Seq_MCF-7_Human0.63123000
74ETV2_25802403_ChIP-Seq_MESCs_Mouse0.62949879
75RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.62847935
76JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.62506145
77BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61774852
78RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61001010
79GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.60631003
80CBX2_22325352_ChIP-Seq_293T-Rex_Human0.60559408
81NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.60340097
82FOXA1_21572438_ChIP-Seq_LNCaP_Human0.59314705
83DNAJC2_21179169_ChIP-ChIP_NT2_Human0.58454810
84CEBPB_22108803_ChIP-Seq_LS180_Human0.58038087
85GATA3_21867929_ChIP-Seq_CD8_Mouse0.57753236
86IRF1_19129219_ChIP-ChIP_H3396_Human0.57737880
87PCGF2_27294783_Chip-Seq_NPCs_Mouse0.56981580
88ERG_20517297_ChIP-Seq_VCAP_Human0.56794143
89ETV1_20927104_ChIP-Seq_GIST48_Human0.56418249
90NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.56414911
91CTCF_27219007_Chip-Seq_Bcells_Human0.56267134
92CDX2_20551321_ChIP-Seq_CACO-2_Human0.55241584
93E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.54749902
94EGR1_19032775_ChIP-ChIP_M12_Human0.54457891
95FOXA1_25552417_ChIP-Seq_VCAP_Human0.54425733
96NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.53876055
97AR_20517297_ChIP-Seq_VCAP_Human0.53816009
98PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.52262593
99FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.52262032
100FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51953490
101MYC_19915707_ChIP-ChIP_AK7_Human0.51882178
102CBP_21632823_ChIP-Seq_H3396_Human0.50317779
103STAT1_17558387_ChIP-Seq_HELA_Human0.50211840
104ESET_19884257_ChIP-Seq_ESCs_Mouse0.49896028
105STAT3_1855785_ChIP-Seq_MESCs_Mouse0.49757835
106TAF15_26573619_Chip-Seq_HEK293_Human0.48514170
107LXR_22292898_ChIP-Seq_THP-1_Human0.47588273
108PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.46739780
109PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.45396244
110PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44587464
111* P53_21459846_ChIP-Seq_SAOS-2_Human0.43892860
112GATA6_25053715_ChIP-Seq_YYC3_Human0.43401714
113CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.43230995
114FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43063858
115ESR1_21235772_ChIP-Seq_MCF-7_Human0.43016743
116FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.42231931
117BCAT_22108803_ChIP-Seq_LS180_Human0.41997589
118TAF2_19829295_ChIP-Seq_ESCs_Human0.41686425
119FOXO3_23340844_ChIP-Seq_DLD1_Human0.41300248
120PPAR_26484153_Chip-Seq_NCI-H1993_Human0.40553654
121GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.39929439
122GATA1_19941827_ChIP-Seq_MEL_Mouse0.38810416
123SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38800030
124ESR1_20079471_ChIP-ChIP_T-47D_Human0.38563688
125SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38410877
126GATA2_19941826_ChIP-Seq_K562_Human0.38217513
127GATA1_19941826_ChIP-Seq_K562_Human0.37977193
128ERG_21242973_ChIP-ChIP_JURKAT_Human0.36593073
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.36300537
130STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.36183334
131LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35775563
132NCOR_22424771_ChIP-Seq_293T_Human0.35058708
133SPI1_26923725_Chip-Seq_HPCs_Mouse0.34942164
134SOX2_20726797_ChIP-Seq_SW620_Human0.34672892
135CDX2_22108803_ChIP-Seq_LS180_Human0.34368209
136FOXH1_21741376_ChIP-Seq_EPCs_Human0.33743180

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.54229682
2* MP0005360_urolithiasis7.04671110
3MP0005085_abnormal_gallbladder_physiolo6.68953867
4MP0005365_abnormal_bile_salt6.35667225
5MP0008875_abnormal_xenobiotic_pharmacok5.25154569
6MP0003252_abnormal_bile_duct4.07731942
7MP0010329_abnormal_lipoprotein_level3.70745094
8MP0009840_abnormal_foam_cell3.35270318
9* MP0003806_abnormal_nucleotide_metabolis3.31494675
10MP0005083_abnormal_biliary_tract3.13305740
11MP0003195_calcinosis2.86179612
12MP0005332_abnormal_amino_acid2.83923733
13MP0001666_abnormal_nutrient_absorption2.76006114
14MP0003191_abnormal_cellular_cholesterol2.29758367
15MP0004019_abnormal_vitamin_homeostasis2.21860586
16MP0000609_abnormal_liver_physiology2.21731229
17MP0002118_abnormal_lipid_homeostasis2.15271622
18MP0003868_abnormal_feces_composition2.00959256
19MP0002138_abnormal_hepatobiliary_system2.00896699
20MP0005319_abnormal_enzyme/_coenzyme1.88317059
21MP0003183_abnormal_peptide_metabolism1.66253536
22* MP0005584_abnormal_enzyme/coenzyme_acti1.53555775
23* MP0001764_abnormal_homeostasis1.49927494
24MP0005451_abnormal_body_composition1.45735831
25MP0003011_delayed_dark_adaptation1.42538835
26MP0003186_abnormal_redox_activity1.31037732
27MP0003656_abnormal_erythrocyte_physiolo1.26918413
28* MP0009643_abnormal_urine_homeostasis1.22213515
29* MP0000598_abnormal_liver_morphology1.17882696
30MP0005647_abnormal_sex_gland1.16682612
31MP0003705_abnormal_hypodermis_morpholog1.15460014
32MP0000604_amyloidosis1.08272132
33MP0009764_decreased_sensitivity_to1.07527432
34MP0002254_reproductive_system_inflammat1.05985872
35* MP0009763_increased_sensitivity_to0.99624346
36MP0004147_increased_porphyrin_level0.99562323
37MP0010368_abnormal_lymphatic_system0.96882739
38MP0005636_abnormal_mineral_homeostasis0.94575625
39MP0010155_abnormal_intestine_physiology0.93588106
40MP0005408_hypopigmentation0.91529356
41MP0008469_abnormal_protein_level0.91139453
42MP0009642_abnormal_blood_homeostasis0.89767821
43MP0003879_abnormal_hair_cell0.87986406
44MP0005084_abnormal_gallbladder_morpholo0.83074357
45MP0009765_abnormal_xenobiotic_induced0.81006222
46MP0002876_abnormal_thyroid_physiology0.80093577
47MP0002078_abnormal_glucose_homeostasis0.79930414
48MP0005220_abnormal_exocrine_pancreas0.77289435
49* MP0005376_homeostasis/metabolism_phenot0.76451891
50MP0005670_abnormal_white_adipose0.76407678
51MP0002971_abnormal_brown_adipose0.72301169
52* MP0006036_abnormal_mitochondrial_physio0.72201568
53MP0005334_abnormal_fat_pad0.70914274
54MP0004130_abnormal_muscle_cell0.69627471
55MP0005266_abnormal_metabolism0.68340805
56MP0009053_abnormal_anal_canal0.68176016
57* MP0009697_abnormal_copulation0.67593361
58MP0003690_abnormal_glial_cell0.67524013
59MP0001661_extended_life_span0.66998431
60MP0000639_abnormal_adrenal_gland0.62034063
61MP0003329_amyloid_beta_deposits0.61818502
62MP0009785_altered_susceptibility_to0.60867406
63MP0001756_abnormal_urination0.59498742
64MP0006035_abnormal_mitochondrial_morpho0.59286505
65MP0005448_abnormal_energy_balance0.58969865
66MP0005187_abnormal_penis_morphology0.58270774
67MP0005409_darkened_coat_color0.57884746
68* MP0005535_abnormal_body_temperature0.57671081
69MP0002822_catalepsy0.55729242
70MP0005058_abnormal_lysosome_morphology0.54266949
71MP0005464_abnormal_platelet_physiology0.52267631
72MP0009379_abnormal_foot_pigmentation0.51247921
73MP0003718_maternal_effect0.50683204
74MP0002928_abnormal_bile_duct0.49561536
75MP0005395_other_phenotype0.49081088
76MP0003638_abnormal_response/metabolism_0.47278114
77MP0008873_increased_physiological_sensi0.46289799
78MP0002136_abnormal_kidney_physiology0.46041854
79MP0008874_decreased_physiological_sensi0.45769396
80MP0004782_abnormal_surfactant_physiolog0.45449748
81MP0001915_intracranial_hemorrhage0.44101880
82MP0003724_increased_susceptibility_to0.42802372
83MP0003953_abnormal_hormone_level0.42723596
84MP0008872_abnormal_physiological_respon0.42222483
85MP0005166_decreased_susceptibility_to0.41842044
86MP0004381_abnormal_hair_follicle0.41639882
87MP0005248_abnormal_Harderian_gland0.41489976
88MP0002837_dystrophic_cardiac_calcinosis0.41387812
89MP0002249_abnormal_larynx_morphology0.41210569
90MP0003075_altered_response_to0.40866237
91MP0003436_decreased_susceptibility_to0.40761224
92MP0001663_abnormal_digestive_system0.40341764
93MP0001664_abnormal_digestion0.39477743
94MP0005023_abnormal_wound_healing0.38335696
95MP0000538_abnormal_urinary_bladder0.38174941
96MP0009672_abnormal_birth_weight0.38043351
97MP0000579_abnormal_nail_morphology0.37795714
98MP0005666_abnormal_adipose_tissue0.36361933
99MP0010234_abnormal_vibrissa_follicle0.36350469
100MP0002796_impaired_skin_barrier0.36024858
101MP0004043_abnormal_pH_regulation0.35686467
102MP0003866_abnormal_defecation0.35140337
103MP0000477_abnormal_intestine_morphology0.34927622
104MP0009384_cardiac_valve_regurgitation0.34215334
105MP0009115_abnormal_fat_cell0.33792509
106MP0005164_abnormal_response_to0.33729119
107MP0000230_abnormal_systemic_arterial0.32966536
108MP0006082_CNS_inflammation0.32569041
109MP0000249_abnormal_blood_vessel0.32257319
110MP0001243_abnormal_dermal_layer0.32116701
111MP0004883_abnormal_blood_vessel0.31457211
112MP0002132_abnormal_respiratory_system0.30983226
113MP0002970_abnormal_white_adipose0.29930727
114MP0001853_heart_inflammation0.29821568
115MP0001881_abnormal_mammary_gland0.29441703
116MP0005381_digestive/alimentary_phenotyp0.29264930
117MP0002168_other_aberrant_phenotype0.29104223
118MP0001765_abnormal_ion_homeostasis0.27559843
119* MP0001845_abnormal_inflammatory_respons0.26814361
120MP0005025_abnormal_response_to0.25936523
121MP0002060_abnormal_skin_morphology0.25863938
122MP0004264_abnormal_extraembryonic_tissu0.25452093
123MP0002090_abnormal_vision0.24737793
124MP0000566_synostosis0.24020771
125MP0001986_abnormal_taste_sensitivity0.23100580
126MP0000467_abnormal_esophagus_morphology0.23039367
127MP0000678_abnormal_parathyroid_gland0.22749027

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.47844015
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.46609816
3Intrahepatic cholestasis (HP:0001406)7.46295415
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.73531785
5Prolonged partial thromboplastin time (HP:0003645)6.63878781
6Hypobetalipoproteinemia (HP:0003563)6.59847973
7Xanthomatosis (HP:0000991)6.29965591
8Hyperlipoproteinemia (HP:0010980)5.52599860
9Complement deficiency (HP:0004431)5.45348790
10Hypolipoproteinemia (HP:0010981)4.86288867
11Joint hemorrhage (HP:0005261)4.81167529
12Epidermoid cyst (HP:0200040)4.57070226
13Hyperglycinemia (HP:0002154)4.50016943
14Abnormality of the common coagulation pathway (HP:0010990)4.46248591
15* Hyperammonemia (HP:0001987)4.44265155
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.44225096
17Abnormality of methionine metabolism (HP:0010901)4.27558310
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.26439786
19Fat malabsorption (HP:0002630)4.25676139
20Ketosis (HP:0001946)4.25387927
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.15193644
22Hypoalphalipoproteinemia (HP:0003233)4.14627513
23Hyperglycinuria (HP:0003108)3.99264298
24Abnormality of complement system (HP:0005339)3.97540908
25Abnormality of glycine metabolism (HP:0010895)3.97506357
26Abnormality of serine family amino acid metabolism (HP:0010894)3.97506357
27Hypoglycemic coma (HP:0001325)3.89953609
28Abnormality of pyrimidine metabolism (HP:0004353)3.88239411
29Conjugated hyperbilirubinemia (HP:0002908)3.87114872
30Abnormality of the intrinsic pathway (HP:0010989)3.80226113
31Hypercholesterolemia (HP:0003124)3.65492445
32* Abnormality of glutamine family amino acid metabolism (HP:0010902)3.63241542
33Hyperbilirubinemia (HP:0002904)3.39555539
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.38821735
35Abnormality of fatty-acid metabolism (HP:0004359)3.33863299
36Steatorrhea (HP:0002570)3.17839087
37Delayed CNS myelination (HP:0002188)3.13641742
38Abnormality of nucleobase metabolism (HP:0010932)3.07078806
39Ketoacidosis (HP:0001993)3.04086142
40Abnormality of urine glucose concentration (HP:0011016)2.99130735
41Glycosuria (HP:0003076)2.99130735
42Hepatocellular carcinoma (HP:0001402)2.98480156
43Spontaneous abortion (HP:0005268)2.97541215
44Hypochromic microcytic anemia (HP:0004840)2.97335811
45Osteomalacia (HP:0002749)2.94172909
46Myocardial infarction (HP:0001658)2.92391310
47Skin nodule (HP:0200036)2.80915221
48Metabolic acidosis (HP:0001942)2.79125875
49* Abnormality of serum amino acid levels (HP:0003112)2.77052608
50Hyperphosphaturia (HP:0003109)2.73697319
51Systemic lupus erythematosus (HP:0002725)2.72660424
52Acanthocytosis (HP:0001927)2.71269729
53Abnormality of purine metabolism (HP:0004352)2.66498503
54Dicarboxylic aciduria (HP:0003215)2.60237295
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.60237295
56Vascular calcification (HP:0004934)2.56308559
57* Lethargy (HP:0001254)2.53303233
58Hypoglycemic seizures (HP:0002173)2.50856991
59Spastic diplegia (HP:0001264)2.48052425
60Abnormal gallbladder morphology (HP:0012437)2.47028653
61Glomerulonephritis (HP:0000099)2.45208412
62Abnormal urine phosphate concentration (HP:0012599)2.41283971
63Recurrent gram-negative bacterial infections (HP:0005420)2.40827818
64Cholelithiasis (HP:0001081)2.40061488
65Mitral stenosis (HP:0001718)2.37423958
66Gout (HP:0001997)2.35272562
67Neonatal onset (HP:0003623)2.35207129
68Abnormal gallbladder physiology (HP:0012438)2.34034816
69Cholecystitis (HP:0001082)2.34034816
70Reduced antithrombin III activity (HP:0001976)2.32303534
71Malnutrition (HP:0004395)2.32299650
72Proximal tubulopathy (HP:0000114)2.28160559
73Cardiovascular calcification (HP:0011915)2.26895239
74Pulmonary embolism (HP:0002204)2.24847119
75Elevated alkaline phosphatase (HP:0003155)2.22810305
76Amyloidosis (HP:0011034)2.22511950
77Purpura (HP:0000979)2.21015993
78Esophageal varix (HP:0002040)2.19552970
79Widely patent fontanelles and sutures (HP:0004492)2.19220670
80Hypophosphatemia (HP:0002148)2.19191241
81Gingival bleeding (HP:0000225)2.18928993
82* Irritability (HP:0000737)2.16085430
83Pancreatitis (HP:0001733)2.15528490
84Menorrhagia (HP:0000132)2.15345285
85Sensorimotor neuropathy (HP:0007141)2.14244601
86* Cerebral edema (HP:0002181)2.13664244
87Abnormality of alkaline phosphatase activity (HP:0004379)2.13156360
88Late onset (HP:0003584)2.10698373
89Brushfield spots (HP:0001088)2.10522267
90Neonatal hypoglycemia (HP:0001998)2.09894636
91Fair hair (HP:0002286)2.09063501
92Enlarged kidneys (HP:0000105)2.08444782
93Poikilocytosis (HP:0004447)2.07600001
94Nephrolithiasis (HP:0000787)2.07584425
95Generalized aminoaciduria (HP:0002909)2.04558820
96Thrombophlebitis (HP:0004418)2.04382882
97Hyperinsulinemic hypoglycemia (HP:0000825)2.02865598
98Opisthotonus (HP:0002179)2.02330885
99Abnormality of the gallbladder (HP:0005264)2.00933376
100* Vomiting (HP:0002013)1.98638845
101Nausea (HP:0002018)1.97046951
102Hemorrhage of the eye (HP:0011885)1.96565545
103Rickets (HP:0002748)1.94638384
104Cerebral palsy (HP:0100021)1.92537676
105Renal cortical cysts (HP:0000803)1.90745491
106Abnormality of the Achilles tendon (HP:0005109)1.89807713
107Facial shape deformation (HP:0011334)1.89639878
108Potter facies (HP:0002009)1.89639878
109Abnormal cartilage morphology (HP:0002763)1.89484173
110Hydroxyprolinuria (HP:0003080)1.88750470
111Abnormality of proline metabolism (HP:0010907)1.88750470
112Pigmentary retinal degeneration (HP:0001146)1.88268374
113Abnormality of iron homeostasis (HP:0011031)1.88126291
114Abnormality of transition element cation homeostasis (HP:0011030)1.86567892
115Ileus (HP:0002595)1.84541174
116Abnormal enzyme/coenzyme activity (HP:0012379)1.84446113
117Hypophosphatemic rickets (HP:0004912)1.83386801
118Elevated hepatic transaminases (HP:0002910)1.82360767
119Confusion (HP:0001289)1.82120750
120Abnormality of vitamin metabolism (HP:0100508)1.81275723
121Abnormality of the vitamin B12 metabolism (HP:0004341)1.81195889
122Status epilepticus (HP:0002133)1.78195235
123Hyperglycemia (HP:0003074)1.74326546
124Nephritis (HP:0000123)1.73899754
125Hyperuricemia (HP:0002149)1.73062035
126Increased purine levels (HP:0004368)1.73062035
127Abnormality of vitamin B metabolism (HP:0004340)1.72040246
128Acute hepatic failure (HP:0006554)1.71213607
129Abdominal distention (HP:0003270)1.68158806

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.17744320
2ACVR1B6.15439069
3SIK14.54422218
4FGFR44.54326291
5ERN14.20049997
6TAOK33.24327912
7INSRR3.00892436
8ERBB42.94139780
9MST1R2.33391119
10MAP2K42.30456073
11PRKG22.29662859
12PKN22.25775015
13PRPF4B1.97436507
14FLT31.93790168
15MAPK111.92964700
16PIK3CG1.90027093
17MAP3K121.79858389
18FRK1.76070798
19LATS11.71995656
20PDK21.68598284
21TYK21.67911100
22TRIB31.58012839
23MAP3K21.56952440
24DAPK21.55124985
25PTK61.48627508
26ABL21.48291676
27MYLK1.46142219
28NEK91.41525210
29FGFR21.41149484
30KDR1.24759310
31EPHA21.22218945
32JAK21.22002830
33STK391.21636931
34TESK21.21287163
35MAP3K71.19986168
36PRKAA21.14492017
37GRK61.13301267
38PINK11.09484114
39ERBB21.09014431
40TBK11.05129658
41MAP3K101.04864403
42OXSR11.03641234
43MAP2K30.99282152
44NLK0.99263531
45JAK10.98908931
46MAPK40.98852621
47MAP3K140.98136935
48STK38L0.96730813
49PRKCZ0.93819940
50MET0.90459450
51MAP3K110.86031122
52EPHB20.85786693
53MAPK150.84952230
54MAP2K60.83863443
55MAP3K30.83529658
56CDK60.83148906
57PRKACG0.77362565
58FER0.76873021
59CAMK2G0.75318670
60MAPK120.72892843
61EPHB10.72676197
62TIE10.72596819
63EPHA30.69915991
64IRAK30.69683025
65LMTK20.69070443
66PRKACA0.68943591
67CSK0.68507382
68PRKG10.67440546
69PRKAA10.66942990
70MAP4K10.66799326
71CAMK1D0.66793308
72DYRK1B0.66787335
73GSK3A0.65968647
74RIPK10.64458584
75SGK30.59387267
76PBK0.59356292
77SRC0.57941776
78IKBKE0.54980109
79PTK20.54818106
80FGFR30.54811388
81MAPK70.53769477
82TGFBR20.52629397
83GRK10.52329869
84PRKCQ0.52292363
85CSF1R0.51988919
86ZAP700.51301203
87CSNK1G10.50168671
88TAOK20.50102870
89PRKCB0.49984317
90CASK0.49969439
91MATK0.49744499
92PDPK10.48638570
93EPHA40.48268407
94PIM10.45451709
95KSR20.45128410
96IGF1R0.43771479
97NTRK30.43480814
98MAP2K10.43239263
99MAP3K50.42448502
100CDK40.42387406
101SGK20.42288007
102BMPR20.41128466
103DDR20.40376226
104RET0.39275922
105SGK10.39138254
106CDC42BPA0.39095807
107MAP3K130.38895512
108PRKCG0.38508853
109JAK30.37585308
110PKN10.36035507
111ICK0.34933464
112TNIK0.34028961
113PRKCD0.33768603
114CAMK40.33378653
115EGFR0.31793621
116YES10.30593398
117FYN0.30488174
118MTOR0.30317811
119MAP3K60.30077242
120MAP2K20.29786393
121PDK10.29722438
122PDGFRA0.29350057
123CSNK1G20.29236983
124CAMKK20.28867930
125CAMK2D0.28770478
126PIK3CA0.28263971
127CSNK1A10.28207994
128SGK4940.28118994
129SGK2230.28118994
130RPS6KA30.27965666
131PRKCA0.27771226
132IRAK20.25583413
133CSNK1G30.25171070
134NUAK10.24031137
135MAP3K10.23324588
136PAK30.22322430
137PDK30.22065332
138PDK40.22065332
139IRAK10.21507940
140AKT30.20938151

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.54627380
2Nitrogen metabolism_Homo sapiens_hsa009103.68008041
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.40686826
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.35985389
5* Arginine biosynthesis_Homo sapiens_hsa002202.86268688
6Complement and coagulation cascades_Homo sapiens_hsa046102.75044861
7Tryptophan metabolism_Homo sapiens_hsa003802.70795427
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.65786476
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.63695819
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.53169266
11Fatty acid degradation_Homo sapiens_hsa000712.49204031
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.39258203
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.28151998
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.15989004
15Butanoate metabolism_Homo sapiens_hsa006502.14535949
16Peroxisome_Homo sapiens_hsa041462.06872286
17Chemical carcinogenesis_Homo sapiens_hsa052041.95704676
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.94330767
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94261349
20Propanoate metabolism_Homo sapiens_hsa006401.93611999
21Histidine metabolism_Homo sapiens_hsa003401.93211509
22PPAR signaling pathway_Homo sapiens_hsa033201.84223038
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.79129132
24Fatty acid metabolism_Homo sapiens_hsa012121.78763770
25Caffeine metabolism_Homo sapiens_hsa002321.76038217
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74250102
27Staphylococcus aureus infection_Homo sapiens_hsa051501.73268974
28Retinol metabolism_Homo sapiens_hsa008301.72425364
29beta-Alanine metabolism_Homo sapiens_hsa004101.71726821
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66516731
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.60137605
32Selenocompound metabolism_Homo sapiens_hsa004501.58160443
33Phenylalanine metabolism_Homo sapiens_hsa003601.55447146
34Bile secretion_Homo sapiens_hsa049761.49973960
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.49727562
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49672601
37Tyrosine metabolism_Homo sapiens_hsa003501.43902125
38Sulfur metabolism_Homo sapiens_hsa009201.38811292
39Pyruvate metabolism_Homo sapiens_hsa006201.36473491
40Fatty acid elongation_Homo sapiens_hsa000621.32696193
41Starch and sucrose metabolism_Homo sapiens_hsa005001.31088325
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.30419654
43Folate biosynthesis_Homo sapiens_hsa007901.23767394
44Fat digestion and absorption_Homo sapiens_hsa049751.21979927
45Steroid biosynthesis_Homo sapiens_hsa001001.20718761
46ABC transporters_Homo sapiens_hsa020101.20010599
47Carbon metabolism_Homo sapiens_hsa012001.13356610
48* Biosynthesis of amino acids_Homo sapiens_hsa012301.11237524
49Maturity onset diabetes of the young_Homo sapiens_hsa049501.04248306
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03203231
51Cyanoamino acid metabolism_Homo sapiens_hsa004600.99722661
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.98388888
53Arginine and proline metabolism_Homo sapiens_hsa003300.98274401
54Vitamin B6 metabolism_Homo sapiens_hsa007500.96316782
55Sulfur relay system_Homo sapiens_hsa041220.94227035
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89003682
57Vitamin digestion and absorption_Homo sapiens_hsa049770.87272366
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83753701
59Lysine degradation_Homo sapiens_hsa003100.81745801
60One carbon pool by folate_Homo sapiens_hsa006700.77060092
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70322537
62Glycerolipid metabolism_Homo sapiens_hsa005610.67648582
63Glutathione metabolism_Homo sapiens_hsa004800.67149246
64Pentose phosphate pathway_Homo sapiens_hsa000300.58011447
65Mineral absorption_Homo sapiens_hsa049780.53703667
66Fatty acid biosynthesis_Homo sapiens_hsa000610.53373670
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.48336082
68* Metabolic pathways_Homo sapiens_hsa011000.46229821
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45901185
70Protein digestion and absorption_Homo sapiens_hsa049740.37696415
71Prion diseases_Homo sapiens_hsa050200.36479627
72Galactose metabolism_Homo sapiens_hsa000520.28446479
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25643299
74Fructose and mannose metabolism_Homo sapiens_hsa000510.25070826
75Linoleic acid metabolism_Homo sapiens_hsa005910.22690633
76Insulin resistance_Homo sapiens_hsa049310.21215077
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20243771
78Adipocytokine signaling pathway_Homo sapiens_hsa049200.19320045
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.15042852
80Glucagon signaling pathway_Homo sapiens_hsa049220.07912043
81Other glycan degradation_Homo sapiens_hsa005110.04966998
82Serotonergic synapse_Homo sapiens_hsa047260.03698818
83Sphingolipid metabolism_Homo sapiens_hsa006000.02774599
84AMPK signaling pathway_Homo sapiens_hsa041520.00410483
85Pertussis_Homo sapiens_hsa05133-0.2563049
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2518695
87Ether lipid metabolism_Homo sapiens_hsa00565-0.2427904
88Amoebiasis_Homo sapiens_hsa05146-0.2412262
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2185325
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512-0.2110782
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2015248
92Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1981541
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1859219
94Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1805789
95Hepatitis C_Homo sapiens_hsa05160-0.1772585
96Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1629760
97Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1525598
98Regulation of autophagy_Homo sapiens_hsa04140-0.1516330
99Renin-angiotensin system_Homo sapiens_hsa04614-0.1464613
100Pancreatic secretion_Homo sapiens_hsa04972-0.1446514
101African trypanosomiasis_Homo sapiens_hsa05143-0.1398777
102Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1311484
103Insulin signaling pathway_Homo sapiens_hsa04910-0.1145933
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.1123326
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1116089
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0792628
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0498681
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0201657

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