APOC4

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 a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.62473429
2L-phenylalanine catabolic process (GO:0006559)7.62473429
3epoxygenase P450 pathway (GO:0019373)7.59924697
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.29927190
5L-phenylalanine metabolic process (GO:0006558)7.29927190
6aromatic amino acid family catabolic process (GO:0009074)6.91118834
7omega-hydroxylase P450 pathway (GO:0097267)6.74787566
8exogenous drug catabolic process (GO:0042738)6.66768455
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.58095840
10phenylpropanoid metabolic process (GO:0009698)6.50545270
11tryptophan catabolic process (GO:0006569)6.27569227
12indole-containing compound catabolic process (GO:0042436)6.27569227
13indolalkylamine catabolic process (GO:0046218)6.27569227
14oxidative demethylation (GO:0070989)6.13883106
15kynurenine metabolic process (GO:0070189)6.04997883
16bile acid biosynthetic process (GO:0006699)5.93427328
17tryptophan metabolic process (GO:0006568)5.90051845
18high-density lipoprotein particle remodeling (GO:0034375)5.89787959
19drug metabolic process (GO:0017144)5.84747914
20glyoxylate metabolic process (GO:0046487)5.80427799
21urea metabolic process (GO:0019627)5.70941360
22urea cycle (GO:0000050)5.70941360
23negative regulation of fibrinolysis (GO:0051918)5.66438362
24regulation of fibrinolysis (GO:0051917)5.50284087
25alpha-linolenic acid metabolic process (GO:0036109)5.44926616
26protein carboxylation (GO:0018214)5.40105089
27peptidyl-glutamic acid carboxylation (GO:0017187)5.40105089
28sulfur amino acid catabolic process (GO:0000098)5.31721721
29nitrogen cycle metabolic process (GO:0071941)5.27398450
30complement activation, alternative pathway (GO:0006957)5.24874039
31cysteine metabolic process (GO:0006534)5.24304804
32regulation of protein activation cascade (GO:2000257)5.24045872
33regulation of cholesterol esterification (GO:0010872)5.23282580
34regulation of plasminogen activation (GO:0010755)5.20623962
35reverse cholesterol transport (GO:0043691)5.13237681
36serine family amino acid catabolic process (GO:0009071)5.12734024
37bile acid metabolic process (GO:0008206)5.09638572
38regulation of triglyceride catabolic process (GO:0010896)5.04226985
39plasma lipoprotein particle remodeling (GO:0034369)5.03747642
40protein-lipid complex remodeling (GO:0034368)5.03747642
41macromolecular complex remodeling (GO:0034367)5.03747642
42aromatic amino acid family metabolic process (GO:0009072)5.03350662
43alkaloid metabolic process (GO:0009820)5.02866867
44phospholipid efflux (GO:0033700)4.90348569
45tyrosine metabolic process (GO:0006570)4.89811787
46regulation of complement activation (GO:0030449)4.87510679
47fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.82219955
48ethanol metabolic process (GO:0006067)4.81483363
49homocysteine metabolic process (GO:0050667)4.79770847
50negative regulation of blood coagulation (GO:0030195)4.77748660
51negative regulation of hemostasis (GO:1900047)4.77748660
52negative regulation of sterol transport (GO:0032372)4.69944994
53negative regulation of cholesterol transport (GO:0032375)4.69944994
54hormone catabolic process (GO:0042447)4.64861735
55alpha-amino acid catabolic process (GO:1901606)4.64402622
56amino-acid betaine metabolic process (GO:0006577)4.61225115
57plasma lipoprotein particle clearance (GO:0034381)4.52254705
58* triglyceride homeostasis (GO:0070328)4.52042385
59* acylglycerol homeostasis (GO:0055090)4.52042385
60indolalkylamine metabolic process (GO:0006586)4.46897212
61negative regulation of protein activation cascade (GO:2000258)4.44734670
62cellular biogenic amine catabolic process (GO:0042402)4.41659501
63amine catabolic process (GO:0009310)4.41659501
64bile acid and bile salt transport (GO:0015721)4.41308823
65cellular ketone body metabolic process (GO:0046950)4.41074056
66cholesterol efflux (GO:0033344)4.40794995
67imidazole-containing compound metabolic process (GO:0052803)4.39775664
68coenzyme catabolic process (GO:0009109)4.39136813
69acute-phase response (GO:0006953)4.37770203
70lysine catabolic process (GO:0006554)4.37749916
71lysine metabolic process (GO:0006553)4.37749916
72negative regulation of wound healing (GO:0061045)4.37028187
73glycine metabolic process (GO:0006544)4.35913180
74regulation of humoral immune response (GO:0002920)4.33401533
75negative regulation of coagulation (GO:0050819)4.33136929
76cellular amino acid catabolic process (GO:0009063)4.25488738
77cellular glucuronidation (GO:0052695)4.24357748
78S-adenosylmethionine metabolic process (GO:0046500)4.23848042
79steroid catabolic process (GO:0006706)4.22040916
80regulation of lipoprotein particle clearance (GO:0010984)4.21063286
81negative regulation of complement activation (GO:0045916)4.18851590
82plasma lipoprotein particle assembly (GO:0034377)4.17617504
83low-density lipoprotein particle remodeling (GO:0034374)4.16933931
84positive regulation of hemostasis (GO:1900048)4.16495145
85positive regulation of blood coagulation (GO:0030194)4.16495145
86benzene-containing compound metabolic process (GO:0042537)4.15270033
87glutamate metabolic process (GO:0006536)4.14397407
88aldehyde catabolic process (GO:0046185)4.13146134
89serine family amino acid metabolic process (GO:0009069)4.12658281
90arginine metabolic process (GO:0006525)4.11560778
91fibrinolysis (GO:0042730)4.05241940
92negative regulation of lipase activity (GO:0060192)3.99818576
93positive regulation of lipoprotein lipase activity (GO:0051006)3.99733253
94positive regulation of triglyceride lipase activity (GO:0061365)3.99733253
95serine family amino acid biosynthetic process (GO:0009070)3.99613261
96blood coagulation, intrinsic pathway (GO:0007597)3.98884099
97cellular modified amino acid catabolic process (GO:0042219)3.98200782
98dicarboxylic acid biosynthetic process (GO:0043650)3.95560155
99heme transport (GO:0015886)3.90746765
100proline metabolic process (GO:0006560)3.90087105
101ethanol oxidation (GO:0006069)3.89746039
102very-low-density lipoprotein particle assembly (GO:0034379)3.88998581
103drug catabolic process (GO:0042737)3.87816918
104cofactor catabolic process (GO:0051187)3.85068989
105NAD biosynthetic process (GO:0009435)3.83853705
106positive regulation of coagulation (GO:0050820)3.83206855
107plasma lipoprotein particle organization (GO:0071827)3.82302045
108ketone body metabolic process (GO:1902224)3.81389044
109positive regulation of lipid catabolic process (GO:0050996)3.79100141
110L-serine metabolic process (GO:0006563)3.78913391
111glucuronate metabolic process (GO:0019585)3.78077018
112uronic acid metabolic process (GO:0006063)3.78077018
113cholesterol homeostasis (GO:0042632)3.77876000
114protein activation cascade (GO:0072376)3.73961889
115regulation of bile acid biosynthetic process (GO:0070857)3.73439283
116phospholipid homeostasis (GO:0055091)3.73095770
117carboxylic acid catabolic process (GO:0046395)3.72945784
118organic acid catabolic process (GO:0016054)3.72945784
119complement activation, classical pathway (GO:0006958)3.72316666
120protein-lipid complex assembly (GO:0065005)3.71112185
121sterol homeostasis (GO:0055092)3.71016454
122nicotinamide nucleotide biosynthetic process (GO:0019359)3.70358736
123pyridine nucleotide biosynthetic process (GO:0019363)3.70358736
124complement activation (GO:0006956)3.69237237
125arginine catabolic process (GO:0006527)3.66477216
126acute inflammatory response (GO:0002526)3.63734410
127opsonization (GO:0008228)3.58376168
128cytolysis (GO:0019835)3.58233448
129protein-lipid complex subunit organization (GO:0071825)3.57577373
130positive regulation of fatty acid biosynthetic process (GO:0045723)3.57311500
131drug transmembrane transport (GO:0006855)3.50196952

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.38221507
2* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.25924038
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.15677303
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.45416618
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.34179960
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.28723052
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.66645120
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.11973886
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.00362446
10ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9910988
11* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.99380634
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.98223403
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.80813562
14HTT_18923047_ChIP-ChIP_STHdh_Human1.67383639
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.54099385
16MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.48452515
17GATA1_22025678_ChIP-Seq_K562_Human1.42641931
18* HNF4A_19822575_ChIP-Seq_HepG2_Human1.37432989
19SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27338417
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26403081
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.25562439
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.24600325
23CLOCK_20551151_ChIP-Seq_293T_Human1.23609932
24IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.17818308
25TRIM28_21343339_ChIP-Seq_HEK293_Human1.16261172
26CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.13241011
27GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.08349886
28IRF8_22096565_ChIP-ChIP_GC-B_Human1.02002773
29STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00398397
30ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99668492
31GATA6_21074721_ChIP-Seq_CACO-2_Human0.98883712
32HNFA_21074721_ChIP-Seq_CACO-2_Human0.98820104
33EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.97147663
34PHF8_20622853_ChIP-Seq_HELA_Human0.95199891
35PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94261245
36PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.94054737
37KAP1_22055183_ChIP-Seq_ESCs_Mouse0.93726583
38SOX2_21211035_ChIP-Seq_LN229_Human0.90318375
39ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90246066
40TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.87839030
41ESR1_20079471_ChIP-ChIP_T-47D_Human0.86797884
42NFYA_21822215_ChIP-Seq_K562_Human0.83453463
43SOX2_27498859_Chip-Seq_STOMACH_Mouse0.80631572
44* AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79510212
45ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78939163
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.77222402
47ETV2_25802403_ChIP-Seq_MESCs_Mouse0.76828175
48ER_23166858_ChIP-Seq_MCF-7_Human0.75997430
49GATA4_25053715_ChIP-Seq_YYC3_Human0.75636069
50ELF1_20517297_ChIP-Seq_JURKAT_Human0.74576994
51RARA_24833708_ChIP-Seq_LIVER_Mouse0.74178893
52ERA_21632823_ChIP-Seq_H3396_Human0.72711351
53SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72706842
54RAC3_21632823_ChIP-Seq_H3396_Human0.72610988
55SUZ12_27294783_Chip-Seq_NPCs_Mouse0.72341870
56GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.72064690
57BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.71819852
58CTCF_20526341_ChIP-Seq_ESCs_Human0.71779912
59SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.71523855
60SA1_27219007_Chip-Seq_Bcells_Human0.70826041
61RARG_19884340_ChIP-ChIP_MEFs_Mouse0.70439177
62CBX2_22325352_ChIP-Seq_293T-Rex_Human0.69328661
63BP1_19119308_ChIP-ChIP_Hs578T_Human0.68345353
64E2F1_20622854_ChIP-Seq_HELA_Human0.67643584
65BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.67539937
66GATA3_21867929_ChIP-Seq_CD8_Mouse0.66436142
67CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.66374742
68JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.65865306
69SPI1_20517297_ChIP-Seq_HL60_Human0.65796580
70ETV1_20927104_ChIP-Seq_GIST48_Human0.65781258
71RAD21_21589869_ChIP-Seq_MESCs_Mouse0.65733992
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64689627
73E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.64106415
74RBPJ_21746931_ChIP-Seq_IB4_Human0.63948188
75MYC_19829295_ChIP-Seq_ESCs_Human0.63909224
76CTCF_27219007_Chip-Seq_Bcells_Human0.63792642
77* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.63134733
78RARB_24833708_ChIP-Seq_LIVER_Mouse0.63078465
79NRF2_20460467_ChIP-Seq_MEFs_Mouse0.62760058
80NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.62760058
81GATA3_21878914_ChIP-Seq_MCF-7_Human0.62067356
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.61855653
83AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.60667252
84P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.60216670
85NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.60112405
86SALL4_18804426_ChIP-ChIP_XEN_Mouse0.60035828
87PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.59333535
88P300_27268052_Chip-Seq_Bcells_Human0.58514334
89CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.58463193
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.57354808
91CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.57151539
92CEBPB_22108803_ChIP-Seq_LS180_Human0.57075201
93* AR_20517297_ChIP-Seq_VCAP_Human0.57062060
94BCOR_27268052_Chip-Seq_Bcells_Human0.56996785
95NFYB_21822215_ChIP-Seq_K562_Human0.56680141
96SOX2_20726797_ChIP-Seq_SW620_Human0.55847442
97STAT1_17558387_ChIP-Seq_HELA_Human0.55679200
98NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.54373900
99EGR1_19032775_ChIP-ChIP_M12_Human0.54362837
100TAF15_26573619_Chip-Seq_HEK293_Human0.53286847
101MYC_19915707_ChIP-ChIP_AK7_Human0.52614784
102CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.51835593
103ESET_19884257_ChIP-Seq_ESCs_Mouse0.51366630
104FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50889543
105NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.50466072
106FOXA1_25552417_ChIP-Seq_VCAP_Human0.50351774
107CBP_21632823_ChIP-Seq_H3396_Human0.49955229
108FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.49740527
109ESR2_21235772_ChIP-Seq_MCF-7_Human0.49623477
110PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.48401811
111SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.48226883
112GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.47278241
113PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.47271931
114IRF1_19129219_ChIP-ChIP_H3396_Human0.45931487
115* P53_21459846_ChIP-Seq_SAOS-2_Human0.43985895
116TAF2_19829295_ChIP-Seq_ESCs_Human0.43070900
117CDX2_20551321_ChIP-Seq_CACO-2_Human0.42147186
118CRX_20693478_ChIP-Seq_RETINA_Mouse0.42053176
119STAT3_1855785_ChIP-Seq_MESCs_Mouse0.41815609
120EZH2_27294783_Chip-Seq_NPCs_Mouse0.41572425
121OCT4_21477851_ChIP-Seq_ESCs_Mouse0.41053868
122GATA1_19941827_ChIP-Seq_MEL_Mouse0.40513502
123* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.39170174
124NFE2_27457419_Chip-Seq_LIVER_Mouse0.39152435
125FOXH1_21741376_ChIP-Seq_EPCs_Human0.38555573
126MYC_27129775_Chip-Seq_CORNEA_Mouse0.38323808
127ZNF263_19887448_ChIP-Seq_K562_Human0.37898793
128BCAT_22108803_ChIP-Seq_LS180_Human0.37429095
129SPI1_26923725_Chip-Seq_HPCs_Mouse0.37168552
130EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.36944199
131STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.36701785
132LXR_22292898_ChIP-Seq_THP-1_Human0.36387600
133NCOR_22424771_ChIP-Seq_293T_Human0.35913943
134CDX2_22108803_ChIP-Seq_LS180_Human0.35837481
135FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.35828958
136ESR1_21235772_ChIP-Seq_MCF-7_Human0.35500858
137PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.34921078
138RUNX1_27457419_Chip-Seq_LIVER_Mouse0.34551536
139SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.34252736
140ERG_20517297_ChIP-Seq_VCAP_Human0.34184547
141GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.34106742

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.36457551
2MP0005360_urolithiasis7.45582216
3MP0005085_abnormal_gallbladder_physiolo6.47142934
4MP0005365_abnormal_bile_salt6.23214552
5MP0008875_abnormal_xenobiotic_pharmacok5.13593666
6MP0003806_abnormal_nucleotide_metabolis4.15026614
7MP0003252_abnormal_bile_duct3.91497125
8MP0010329_abnormal_lipoprotein_level3.60047060
9MP0009840_abnormal_foam_cell3.38617281
10MP0005083_abnormal_biliary_tract2.94160060
11MP0003195_calcinosis2.92507551
12MP0005332_abnormal_amino_acid2.75096770
13MP0001666_abnormal_nutrient_absorption2.56590113
14MP0003191_abnormal_cellular_cholesterol2.41714362
15MP0004019_abnormal_vitamin_homeostasis2.21787493
16MP0000609_abnormal_liver_physiology2.13509643
17MP0002118_abnormal_lipid_homeostasis2.09135070
18MP0002138_abnormal_hepatobiliary_system2.05633825
19MP0003868_abnormal_feces_composition1.97260160
20MP0005319_abnormal_enzyme/_coenzyme1.80582640
21MP0001764_abnormal_homeostasis1.78072935
22MP0009697_abnormal_copulation1.76054747
23MP0005451_abnormal_body_composition1.67872756
24MP0005584_abnormal_enzyme/coenzyme_acti1.53349560
25MP0003011_delayed_dark_adaptation1.50222537
26MP0003186_abnormal_redox_activity1.36065828
27MP0003656_abnormal_erythrocyte_physiolo1.26663667
28MP0005187_abnormal_penis_morphology1.21599430
29MP0009643_abnormal_urine_homeostasis1.20373817
30MP0005647_abnormal_sex_gland1.19352672
31MP0009764_decreased_sensitivity_to1.16474568
32MP0000598_abnormal_liver_morphology1.15202517
33MP0009763_increased_sensitivity_to1.05209411
34MP0000604_amyloidosis0.99053593
35MP0002254_reproductive_system_inflammat0.95718645
36MP0010368_abnormal_lymphatic_system0.95032012
37MP0008469_abnormal_protein_level0.93042612
38MP0005636_abnormal_mineral_homeostasis0.92473412
39MP0002876_abnormal_thyroid_physiology0.90026459
40MP0003705_abnormal_hypodermis_morpholog0.89974551
41MP0001915_intracranial_hemorrhage0.88578486
42MP0009642_abnormal_blood_homeostasis0.88227196
43MP0005408_hypopigmentation0.86347998
44MP0009765_abnormal_xenobiotic_induced0.82652865
45MP0005084_abnormal_gallbladder_morpholo0.82117331
46MP0010386_abnormal_urinary_bladder0.81306698
47MP0005376_homeostasis/metabolism_phenot0.80786412
48MP0005670_abnormal_white_adipose0.80296553
49MP0006036_abnormal_mitochondrial_physio0.79500188
50MP0002078_abnormal_glucose_homeostasis0.75218461
51MP0005058_abnormal_lysosome_morphology0.72768026
52MP0003879_abnormal_hair_cell0.70217583
53MP0005220_abnormal_exocrine_pancreas0.69078900
54MP0005334_abnormal_fat_pad0.68847118
55MP0002971_abnormal_brown_adipose0.66486999
56MP0003690_abnormal_glial_cell0.65885147
57MP0005535_abnormal_body_temperature0.65063012
58MP0009053_abnormal_anal_canal0.62173958
59MP0005266_abnormal_metabolism0.61493715
60MP0000639_abnormal_adrenal_gland0.61170644
61MP0001661_extended_life_span0.58848913
62MP0005464_abnormal_platelet_physiology0.57740071
63MP0004381_abnormal_hair_follicle0.56577159
64MP0001756_abnormal_urination0.55736818
65MP0004130_abnormal_muscle_cell0.55163224
66MP0002090_abnormal_vision0.55075741
67MP0002282_abnormal_trachea_morphology0.54918630
68MP0005448_abnormal_energy_balance0.54557311
69MP0004782_abnormal_surfactant_physiolog0.53621642
70MP0003724_increased_susceptibility_to0.52654231
71MP0003718_maternal_effect0.52373341
72MP0005395_other_phenotype0.52113069
73MP0006035_abnormal_mitochondrial_morpho0.51813662
74MP0002822_catalepsy0.49626483
75MP0003436_decreased_susceptibility_to0.49296311
76MP0002928_abnormal_bile_duct0.46730210
77MP0002136_abnormal_kidney_physiology0.44269874
78MP0003638_abnormal_response/metabolism_0.43701710
79MP0003329_amyloid_beta_deposits0.43575678
80MP0008874_decreased_physiological_sensi0.43460208
81MP0008873_increased_physiological_sensi0.43175891
82MP0002249_abnormal_larynx_morphology0.40598569
83MP0005248_abnormal_Harderian_gland0.40439762
84MP0003953_abnormal_hormone_level0.40406592
85MP0002132_abnormal_respiratory_system0.39752875
86MP0008872_abnormal_physiological_respon0.39477701
87MP0003075_altered_response_to0.38959098
88MP0005166_decreased_susceptibility_to0.36995057
89MP0000579_abnormal_nail_morphology0.36555326
90MP0006082_CNS_inflammation0.35787601
91MP0004883_abnormal_blood_vessel0.34581834
92MP0001986_abnormal_taste_sensitivity0.34080365
93MP0009672_abnormal_birth_weight0.32616653
94MP0003959_abnormal_lean_body0.32591231
95MP0000249_abnormal_blood_vessel0.32590490
96MP0001845_abnormal_inflammatory_respons0.32056782
97MP0009115_abnormal_fat_cell0.31426894
98MP0002168_other_aberrant_phenotype0.31362226
99MP0001853_heart_inflammation0.31207187
100MP0000230_abnormal_systemic_arterial0.31000504
101MP0001243_abnormal_dermal_layer0.30607426
102MP0005666_abnormal_adipose_tissue0.29818991
103MP0002837_dystrophic_cardiac_calcinosis0.29797086
104MP0005167_abnormal_blood-brain_barrier0.28349715
105MP0001881_abnormal_mammary_gland0.27296918
106MP0005164_abnormal_response_to0.26661052
107MP0002796_impaired_skin_barrier0.26402526
108MP0002970_abnormal_white_adipose0.25590684
109MP0005645_abnormal_hypothalamus_physiol0.25295809
110MP0002332_abnormal_exercise_endurance0.24876750
111MP0002060_abnormal_skin_morphology0.24526402
112MP0009785_altered_susceptibility_to0.22231831
113MP0005075_abnormal_melanosome_morpholog0.21876697
114MP0005197_abnormal_uvea_morphology0.21415730
115MP0002089_abnormal_postnatal_growth/wei0.20831146
116MP0005410_abnormal_fertilization0.19383197
117MP0001440_abnormal_grooming_behavior0.17070679
118MP0006292_abnormal_olfactory_placode0.16391142
119MP0005023_abnormal_wound_healing0.15533146
120MP0000467_abnormal_esophagus_morphology0.15176198
121MP0003172_abnormal_lysosome_physiology0.14079721
122MP0004272_abnormal_basement_membrane0.13987959
123MP0001324_abnormal_eye_pigmentation0.13457538

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.54721660
2Deep venous thrombosis (HP:0002625)7.38530803
3Intrahepatic cholestasis (HP:0001406)7.28608122
4Prolonged partial thromboplastin time (HP:0003645)6.79408415
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.77753908
6Hypobetalipoproteinemia (HP:0003563)6.48897955
7Xanthomatosis (HP:0000991)6.27529014
8Hyperlipoproteinemia (HP:0010980)5.79558928
9Complement deficiency (HP:0004431)5.23001833
10Joint hemorrhage (HP:0005261)5.07976854
11Hypolipoproteinemia (HP:0010981)4.89819062
12Hyperammonemia (HP:0001987)4.58335183
13Abnormality of methionine metabolism (HP:0010901)4.51366578
14Epidermoid cyst (HP:0200040)4.49035435
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.48845284
16Abnormality of the common coagulation pathway (HP:0010990)4.44173933
17Hypoalphalipoproteinemia (HP:0003233)4.35712008
18Hyperglycinemia (HP:0002154)4.34771758
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.33420117
20Abnormality of aspartate family amino acid metabolism (HP:0010899)4.26880934
21Ketosis (HP:0001946)4.23060524
22Abnormality of pyrimidine metabolism (HP:0004353)4.11704420
23Fat malabsorption (HP:0002630)4.10795858
24Abnormality of glutamine family amino acid metabolism (HP:0010902)4.09410416
25Reduced antithrombin III activity (HP:0001976)4.09038385
26Hyperglycinuria (HP:0003108)3.87129913
27Hypoglycemic coma (HP:0001325)3.84595535
28Abnormality of glycine metabolism (HP:0010895)3.83542318
29Abnormality of serine family amino acid metabolism (HP:0010894)3.83542318
30Abnormality of complement system (HP:0005339)3.82277168
31Abnormality of the intrinsic pathway (HP:0010989)3.81367565
32Conjugated hyperbilirubinemia (HP:0002908)3.70439347
33Hypercholesterolemia (HP:0003124)3.61197861
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.37215361
35Abnormality of fatty-acid metabolism (HP:0004359)3.36399150
36Nephritis (HP:0000123)3.35885659
37Hyperbilirubinemia (HP:0002904)3.35499791
38Steatorrhea (HP:0002570)3.15796595
39Abnormality of serum amino acid levels (HP:0003112)3.14094293
40Abnormality of nucleobase metabolism (HP:0010932)3.12386074
41Hypochromic microcytic anemia (HP:0004840)3.08747381
42Delayed CNS myelination (HP:0002188)3.08156531
43Spontaneous abortion (HP:0005268)3.03367894
44Hepatocellular carcinoma (HP:0001402)2.99171191
45Ketoacidosis (HP:0001993)2.90521552
46Myocardial infarction (HP:0001658)2.89909850
47Metabolic acidosis (HP:0001942)2.82063259
48Osteomalacia (HP:0002749)2.80711194
49Systemic lupus erythematosus (HP:0002725)2.77783313
50Lethargy (HP:0001254)2.65931165
51Vascular calcification (HP:0004934)2.65388021
52Skin nodule (HP:0200036)2.65242859
53Dicarboxylic aciduria (HP:0003215)2.63102725
54Abnormality of dicarboxylic acid metabolism (HP:0010995)2.63102725
55Abnormality of purine metabolism (HP:0004352)2.62726901
56Fair hair (HP:0002286)2.58117398
57Purpura (HP:0000979)2.52290692
58Hypoglycemic seizures (HP:0002173)2.50027614
59Cerebral edema (HP:0002181)2.49677748
60Acanthocytosis (HP:0001927)2.44772910
61Recurrent gram-negative bacterial infections (HP:0005420)2.44600741
62Glomerulonephritis (HP:0000099)2.43828653
63Abnormal biliary tract physiology (HP:0012439)2.43754799
64Bile duct proliferation (HP:0001408)2.43754799
65Neonatal hypoglycemia (HP:0001998)2.42606094
66Amyloidosis (HP:0011034)2.42590755
67Mitral stenosis (HP:0001718)2.39557603
68Abnormal gallbladder morphology (HP:0012437)2.38670276
69Gingival bleeding (HP:0000225)2.36964379
70Cardiovascular calcification (HP:0011915)2.33640528
71Spastic diplegia (HP:0001264)2.31232394
72Cholelithiasis (HP:0001081)2.31036317
73Irritability (HP:0000737)2.30958061
74Gout (HP:0001997)2.30757313
75Neonatal onset (HP:0003623)2.28027034
76Menorrhagia (HP:0000132)2.25540181
77Enlarged kidneys (HP:0000105)2.22550890
78Pancreatitis (HP:0001733)2.22342652
79Elevated alkaline phosphatase (HP:0003155)2.22225092
80Cholecystitis (HP:0001082)2.21882444
81Abnormal gallbladder physiology (HP:0012438)2.21882444
82Arthropathy (HP:0003040)2.16540975
83Hyperphosphaturia (HP:0003109)2.16273876
84Malnutrition (HP:0004395)2.13756162
85Esophageal varix (HP:0002040)2.13563783
86Generalized aminoaciduria (HP:0002909)2.13243533
87Brushfield spots (HP:0001088)2.12130122
88Abnormality of the Achilles tendon (HP:0005109)2.11436146
89Opisthotonus (HP:0002179)2.11299683
90Thrombophlebitis (HP:0004418)2.10496928
91Renal cortical cysts (HP:0000803)2.09610763
92Atrioventricular block (HP:0001678)2.09561687
93Glycosuria (HP:0003076)2.08770767
94Abnormality of urine glucose concentration (HP:0011016)2.08770767
95Vomiting (HP:0002013)2.08347825
96Gangrene (HP:0100758)2.06765444
97Abnormality of alkaline phosphatase activity (HP:0004379)2.03796309
98Sensorimotor neuropathy (HP:0007141)2.02839799
99Late onset (HP:0003584)2.02193914
100Poikilocytosis (HP:0004447)2.01683822
101Rickets (HP:0002748)1.99612969
102Hemorrhage of the eye (HP:0011885)1.98830941
103Increased serum ferritin (HP:0003281)1.98153246
104Abnormal pupillary function (HP:0007686)1.98006197
105Hyperinsulinemic hypoglycemia (HP:0000825)1.97530500
106Hypophosphatemic rickets (HP:0004912)1.95614211
107Abnormality of the gallbladder (HP:0005264)1.94748727
108Abnormality of iron homeostasis (HP:0011031)1.92564334
109Elevated hepatic transaminases (HP:0002910)1.88300540
110Abnormality of transition element cation homeostasis (HP:0011030)1.87369156
111Alkalosis (HP:0001948)1.83196120
112Abnormal enzyme/coenzyme activity (HP:0012379)1.79591488
113Abnormality of vitamin metabolism (HP:0100508)1.78703032
114Hydroxyprolinuria (HP:0003080)1.78065346
115Abnormality of proline metabolism (HP:0010907)1.78065346
116Generalized hypopigmentation of hair (HP:0011358)1.77414273
117Proximal tubulopathy (HP:0000114)1.76486386
118Abnormal cartilage morphology (HP:0002763)1.75812089
119Pulmonary embolism (HP:0002204)1.73829118
120Status epilepticus (HP:0002133)1.73525352
121Abnormal urine phosphate concentration (HP:0012599)1.72317583
122Retinal atrophy (HP:0001105)1.69390120
123Paraparesis (HP:0002385)1.56889212
124Cerebral palsy (HP:0100021)1.55679084
125Epistaxis (HP:0000421)1.55355419
126Increased serum pyruvate (HP:0003542)1.53265476
127Potter facies (HP:0002009)1.51431629

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.25012691
2FGFR44.54558803
3SIK14.43512211
4ERN14.16591463
5INSRR3.28067690
6TAOK33.01886431
7ERBB42.92972190
8PDK22.53898130
9MUSK2.36690851
10MAP2K42.15947962
11ARAF2.03976721
12PIK3CG2.01618130
13MST1R1.98481826
14FLT31.86213832
15MAPK111.86056578
16TYK21.75004938
17RIPK11.73208045
18MAP3K121.64265664
19MAP3K141.62741659
20NEK91.60664747
21PINK11.53814976
22PKN21.53599720
23LATS11.50297449
24ABL21.49613984
25NTRK31.45020508
26IRAK31.43370176
27DAPK21.39500475
28WNK31.38630801
29FRK1.31613619
30TNK21.30175732
31MYLK1.26214213
32KDR1.25539752
33PTK61.25177141
34TBK11.15796846
35FGFR21.15211678
36PRKACA1.14990280
37PRKG11.12018768
38JAK21.11471538
39PRKAA21.10937685
40STK38L1.10476431
41MAP3K71.09131307
42CSNK1D1.08121356
43JAK11.06207923
44MAP2K31.01354959
45MAPK150.99046169
46MAPK40.97785470
47CAMKK10.96285286
48TESK20.95321996
49TIE10.94667608
50EPHA30.94244601
51ERBB20.93087645
52IKBKE0.92154697
53GRK60.91626483
54PRKCZ0.91077067
55MAP3K30.90342491
56DYRK20.86074446
57PIM20.85489649
58SGK10.85078253
59TRIB30.84331779
60PBK0.80632632
61MAP2K60.79213189
62PDK10.78759530
63EPHB10.77042763
64CSK0.77016915
65MAPK120.76688875
66CAMK2G0.75959741
67PRKACG0.74613538
68PRKCB0.74035789
69GRK10.72938563
70SGK30.72115301
71MAP3K110.69221458
72MAPK70.68871235
73SGK20.68532314
74TAOK20.68524996
75IRAK10.66824215
76MAP4K20.64959461
77MET0.64647260
78CDK60.64565465
79RPS6KA30.64380044
80GSK3A0.63461208
81STK380.63251555
82MAP3K100.62025654
83IRAK20.61884874
84TGFBR20.60977798
85PRKCQ0.59956386
86PRKAA10.59596340
87BLK0.58459970
88STK160.58145229
89PKN10.57925655
90PRKACB0.57552616
91CSNK2A10.56548039
92CSNK2A20.56488227
93DYRK1B0.55914323
94ADRBK20.55645710
95CSF1R0.53687966
96CSNK1G10.52232232
97PRPF4B0.50326435
98PRKCE0.48877576
99EIF2AK30.47333824
100CASK0.47223224
101FGFR30.47037927
102MAPKAPK30.46975084
103CSNK1A10.45074257
104PRKCG0.43974023
105CAMK1D0.43972922
106DAPK10.42816953
107ZAP700.42581208
108AKT30.42472513
109SGK4940.42234483
110SGK2230.42234483
111IGF1R0.41109020
112CDK40.41080699
113PDPK10.40286429
114MAP3K130.39030995
115MAP3K10.38908704
116SRC0.38876982
117MAP3K50.36044575
118CAMK40.35726471
119AKT20.35034748
120GRK70.35004182
121PTK20.34123566
122MAP3K60.32675902
123EPHA40.32490310
124IKBKB0.31529805
125CSNK1G30.31335387
126MAP2K10.31182863
127PRKCA0.28519053
128CHUK0.28070522
129KIT0.27670069
130NUAK10.27048790
131CSNK1A1L0.25538718
132EIF2AK20.25482927
133EGFR0.25245877
134CSNK1G20.25107612
135IRAK40.25007583
136ABL10.22514131
137MAP2K20.22507147
138MAPK30.22110988
139PIK3CA0.20849867

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.56355615
2Nitrogen metabolism_Homo sapiens_hsa009103.35684018
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.34232676
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.32639666
5Arginine biosynthesis_Homo sapiens_hsa002203.05484221
6Complement and coagulation cascades_Homo sapiens_hsa046102.80627002
7Tryptophan metabolism_Homo sapiens_hsa003802.70360377
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.68659132
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.57163634
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.57043027
11Fatty acid degradation_Homo sapiens_hsa000712.46759867
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36219173
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.28127530
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.20177490
15Peroxisome_Homo sapiens_hsa041462.14132352
16Butanoate metabolism_Homo sapiens_hsa006502.09779606
17Steroid hormone biosynthesis_Homo sapiens_hsa001402.02697069
18Chemical carcinogenesis_Homo sapiens_hsa052042.02229341
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.00591117
20Histidine metabolism_Homo sapiens_hsa003401.94742248
21Propanoate metabolism_Homo sapiens_hsa006401.87370100
22PPAR signaling pathway_Homo sapiens_hsa033201.87357625
23Staphylococcus aureus infection_Homo sapiens_hsa051501.80406210
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.79423059
25Fatty acid metabolism_Homo sapiens_hsa012121.77961816
26Retinol metabolism_Homo sapiens_hsa008301.77080553
27beta-Alanine metabolism_Homo sapiens_hsa004101.74513822
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.72803126
29Caffeine metabolism_Homo sapiens_hsa002321.72214804
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.70994356
31Phenylalanine metabolism_Homo sapiens_hsa003601.60798590
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.59734923
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.58472142
34Selenocompound metabolism_Homo sapiens_hsa004501.58056251
35Tyrosine metabolism_Homo sapiens_hsa003501.48570053
36Bile secretion_Homo sapiens_hsa049761.42884349
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.39814764
38Fatty acid elongation_Homo sapiens_hsa000621.38849192
39Sulfur metabolism_Homo sapiens_hsa009201.34975582
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.33657293
41Pyruvate metabolism_Homo sapiens_hsa006201.29553872
42Starch and sucrose metabolism_Homo sapiens_hsa005001.27963214
43Folate biosynthesis_Homo sapiens_hsa007901.27323374
44Steroid biosynthesis_Homo sapiens_hsa001001.23565761
45ABC transporters_Homo sapiens_hsa020101.20014897
46Fat digestion and absorption_Homo sapiens_hsa049751.16100275
47Biosynthesis of amino acids_Homo sapiens_hsa012301.13872017
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08863685
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.05292805
50Carbon metabolism_Homo sapiens_hsa012001.04530448
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.02537902
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.00527088
53Arginine and proline metabolism_Homo sapiens_hsa003301.00185417
54Sulfur relay system_Homo sapiens_hsa041220.98939881
55Vitamin B6 metabolism_Homo sapiens_hsa007500.97964369
56Vitamin digestion and absorption_Homo sapiens_hsa049770.93512971
57Cyanoamino acid metabolism_Homo sapiens_hsa004600.93308299
58One carbon pool by folate_Homo sapiens_hsa006700.81986831
59Lysine degradation_Homo sapiens_hsa003100.79487940
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.73257217
61Glutathione metabolism_Homo sapiens_hsa004800.68287417
62Glycerolipid metabolism_Homo sapiens_hsa005610.63810431
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63474731
64Pentose phosphate pathway_Homo sapiens_hsa000300.55544680
65Metabolic pathways_Homo sapiens_hsa011000.48913718
66Fatty acid biosynthesis_Homo sapiens_hsa000610.48126185
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42444943
68Prion diseases_Homo sapiens_hsa050200.33843061
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30681946
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.30601251
71Linoleic acid metabolism_Homo sapiens_hsa005910.28852255
72Galactose metabolism_Homo sapiens_hsa000520.25042502
73Fructose and mannose metabolism_Homo sapiens_hsa000510.23284469
74Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18497659
75Insulin resistance_Homo sapiens_hsa049310.18071542
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.17301483
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.15839961
78Other glycan degradation_Homo sapiens_hsa005110.11130322
79Glucagon signaling pathway_Homo sapiens_hsa049220.05080385
80Serotonergic synapse_Homo sapiens_hsa047260.04985092
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.2685100
82Pyrimidine metabolism_Homo sapiens_hsa00240-0.2573475
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2521261
84Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2437395
85Pertussis_Homo sapiens_hsa05133-0.2404982
86Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.2346961
87Circadian rhythm_Homo sapiens_hsa04710-0.2264675
88N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2246356
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2113149
90Renin-angiotensin system_Homo sapiens_hsa04614-0.2054102
91Ether lipid metabolism_Homo sapiens_hsa00565-0.1994151
92RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.1833069
93Type II diabetes mellitus_Homo sapiens_hsa04930-0.1815840
94Sphingolipid metabolism_Homo sapiens_hsa00600-0.1666331
95Hepatitis C_Homo sapiens_hsa05160-0.1650799
96Insulin signaling pathway_Homo sapiens_hsa04910-0.1543272
97Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1279664
98Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1222677
99African trypanosomiasis_Homo sapiens_hsa05143-0.0948503
100Regulation of autophagy_Homo sapiens_hsa04140-0.0920886
101Amoebiasis_Homo sapiens_hsa05146-0.0907065
102Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563-0.0899629
103Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0893350
104Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0742583
105Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0668066
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0467745
107AMPK signaling pathway_Homo sapiens_hsa04152-0.0342812
108Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0217129
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0139382
110Mineral absorption_Homo sapiens_hsa04978-0.0059038

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