CFB

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 complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. 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)7.14081055
2L-phenylalanine catabolic process (GO:0006559)7.14081055
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.83818576
4L-phenylalanine metabolic process (GO:0006558)6.83818576
5exogenous drug catabolic process (GO:0042738)6.45583565
6aromatic amino acid family catabolic process (GO:0009074)6.44295741
7epoxygenase P450 pathway (GO:0019373)6.24509646
8triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.13980164
9tryptophan catabolic process (GO:0006569)5.82537998
10indole-containing compound catabolic process (GO:0042436)5.82537998
11indolalkylamine catabolic process (GO:0046218)5.82537998
12kynurenine metabolic process (GO:0070189)5.67450686
13bile acid biosynthetic process (GO:0006699)5.62208438
14glyoxylate metabolic process (GO:0046487)5.59291233
15omega-hydroxylase P450 pathway (GO:0097267)5.57210571
16tryptophan metabolic process (GO:0006568)5.49850884
17urea cycle (GO:0000050)5.49050363
18urea metabolic process (GO:0019627)5.49050363
19negative regulation of fibrinolysis (GO:0051918)5.41810984
20alpha-linolenic acid metabolic process (GO:0036109)5.41450393
21protein carboxylation (GO:0018214)5.32558199
22peptidyl-glutamic acid carboxylation (GO:0017187)5.32558199
23high-density lipoprotein particle remodeling (GO:0034375)5.31685000
24* complement activation, alternative pathway (GO:0006957)5.28638614
25cysteine metabolic process (GO:0006534)5.27458679
26sulfur amino acid catabolic process (GO:0000098)5.25639687
27* regulation of protein activation cascade (GO:2000257)5.24392750
28regulation of fibrinolysis (GO:0051917)5.18666948
29regulation of apoptotic cell clearance (GO:2000425)5.11108860
30nitrogen cycle metabolic process (GO:0071941)5.03719902
31negative regulation of protein activation cascade (GO:2000258)4.99400911
32serine family amino acid catabolic process (GO:0009071)4.90867141
33* regulation of complement activation (GO:0030449)4.89029590
34bile acid metabolic process (GO:0008206)4.83951302
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.82112042
36homocysteine metabolic process (GO:0050667)4.77301182
37regulation of plasminogen activation (GO:0010755)4.76435577
38reverse cholesterol transport (GO:0043691)4.74784467
39regulation of triglyceride catabolic process (GO:0010896)4.73826073
40regulation of cholesterol esterification (GO:0010872)4.68302679
41negative regulation of hemostasis (GO:1900047)4.66318465
42negative regulation of blood coagulation (GO:0030195)4.66318465
43aromatic amino acid family metabolic process (GO:0009072)4.66192190
44protein-lipid complex remodeling (GO:0034368)4.62567872
45macromolecular complex remodeling (GO:0034367)4.62567872
46plasma lipoprotein particle remodeling (GO:0034369)4.62567872
47plasma lipoprotein particle clearance (GO:0034381)4.55682611
48* regulation of humoral immune response (GO:0002920)4.55416058
49tyrosine metabolic process (GO:0006570)4.53466145
50lysine catabolic process (GO:0006554)4.52525846
51lysine metabolic process (GO:0006553)4.52525846
52acylglycerol homeostasis (GO:0055090)4.51109669
53triglyceride homeostasis (GO:0070328)4.51109669
54phospholipid efflux (GO:0033700)4.49242714
55drug metabolic process (GO:0017144)4.46884201
56amino-acid betaine metabolic process (GO:0006577)4.46709635
57positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.45928467
58intestinal cholesterol absorption (GO:0030299)4.43522865
59alpha-amino acid catabolic process (GO:1901606)4.41831679
60negative regulation of cholesterol transport (GO:0032375)4.38634068
61negative regulation of sterol transport (GO:0032372)4.38634068
62negative regulation of coagulation (GO:0050819)4.36424532
63ethanol metabolic process (GO:0006067)4.34371204
64cellular ketone body metabolic process (GO:0046950)4.29576984
65negative regulation of wound healing (GO:0061045)4.23338412
66negative regulation of complement activation (GO:0045916)4.22352758
67bile acid and bile salt transport (GO:0015721)4.21106993
68cellular glucuronidation (GO:0052695)4.14835621
69cholesterol efflux (GO:0033344)4.11773936
70indolalkylamine metabolic process (GO:0006586)4.11392188
71cellular amino acid catabolic process (GO:0009063)4.07573271
72glutamate metabolic process (GO:0006536)4.06820303
73glycine metabolic process (GO:0006544)4.02556853
74imidazole-containing compound metabolic process (GO:0052803)4.02383841
75positive regulation of blood coagulation (GO:0030194)4.00549366
76positive regulation of hemostasis (GO:1900048)4.00549366
77amine catabolic process (GO:0009310)4.00532738
78cellular biogenic amine catabolic process (GO:0042402)4.00532738
79cellular modified amino acid catabolic process (GO:0042219)4.00388029
80coenzyme catabolic process (GO:0009109)4.00116857
81fibrinolysis (GO:0042730)3.97426313
82aldehyde catabolic process (GO:0046185)3.97225301
83serine family amino acid metabolic process (GO:0009069)3.94985936
84drug catabolic process (GO:0042737)3.94309676
85ethanol oxidation (GO:0006069)3.94283202
86benzene-containing compound metabolic process (GO:0042537)3.91821570
87plasma lipoprotein particle assembly (GO:0034377)3.90076640
88arginine metabolic process (GO:0006525)3.89655835
89acute inflammatory response (GO:0002526)3.87864254
90low-density lipoprotein particle remodeling (GO:0034374)3.85663498
91dicarboxylic acid biosynthetic process (GO:0043650)3.79769841
92phospholipid homeostasis (GO:0055091)3.79121724
93positive regulation of lipoprotein lipase activity (GO:0051006)3.76136146
94positive regulation of triglyceride lipase activity (GO:0061365)3.76136146
95positive regulation of lipid catabolic process (GO:0050996)3.75847204
96positive regulation of coagulation (GO:0050820)3.75373083
97uronic acid metabolic process (GO:0006063)3.72609084
98glucuronate metabolic process (GO:0019585)3.72609084
99serine family amino acid biosynthetic process (GO:0009070)3.71897068
100complement activation, classical pathway (GO:0006958)3.71422476
101ketone body metabolic process (GO:1902224)3.70696928
102protein-lipid complex subunit organization (GO:0071825)3.70561726
103cholesterol homeostasis (GO:0042632)3.69914030
104blood coagulation, intrinsic pathway (GO:0007597)3.69321213
105short-chain fatty acid metabolic process (GO:0046459)3.67483441
106regulation of cholesterol homeostasis (GO:2000188)3.65832146
107oxidative demethylation (GO:0070989)3.64718846
108sterol homeostasis (GO:0055092)3.64689931
109* protein activation cascade (GO:0072376)3.63575114
110cofactor catabolic process (GO:0051187)3.63087570
111* complement activation (GO:0006956)3.62704481
112carboxylic acid catabolic process (GO:0046395)3.60631528
113organic acid catabolic process (GO:0016054)3.60631528
114acute-phase response (GO:0006953)3.59676299
115negative regulation of lipase activity (GO:0060192)3.59417276
116phenylpropanoid metabolic process (GO:0009698)3.58943085
117acetyl-CoA metabolic process (GO:0006084)3.57276067
118plasma lipoprotein particle organization (GO:0071827)3.54334105
119positive regulation of fatty acid biosynthetic process (GO:0045723)3.53797336
120very-low-density lipoprotein particle assembly (GO:0034379)3.53722059
121opsonization (GO:0008228)3.51793137
122protein-lipid complex assembly (GO:0065005)3.51266740
123urate metabolic process (GO:0046415)3.50469690
124cytolysis (GO:0019835)3.47789647
125lipoprotein metabolic process (GO:0042157)3.47546575
126fat-soluble vitamin biosynthetic process (GO:0042362)3.47069243
127intestinal absorption (GO:0050892)3.46112233
128hormone catabolic process (GO:0042447)3.43201437
129negative regulation of humoral immune response (GO:0002921)3.42410651
130* regulation of acute inflammatory response (GO:0002673)3.26946040
131regulation of bile acid biosynthetic process (GO:0070857)3.18007151
132alkaloid metabolic process (GO:0009820)3.14618171
133primary alcohol catabolic process (GO:0034310)3.12205777
134regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.11623253

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.95949570
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.83685493
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse6.54131361
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.21942390
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.19041716
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.95718234
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.79414979
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.84724750
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.69179864
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.34299914
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.05506436
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.2938239
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.94822649
14HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94230626
15STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.77585951
16CLOCK_20551151_ChIP-Seq_293T_Human1.75511236
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73722375
18IRF8_22096565_ChIP-ChIP_GC-B_Human1.66760987
19FOXA2_19822575_ChIP-Seq_HepG2_Human1.56578541
20GATA1_22025678_ChIP-Seq_K562_Human1.53361903
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53267381
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.47753409
23HNF4A_19822575_ChIP-Seq_HepG2_Human1.35649602
24HTT_18923047_ChIP-ChIP_STHdh_Human1.30804710
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.29965230
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.22276630
27RARG_19884340_ChIP-ChIP_MEFs_Mouse1.20415174
28ESR1_15608294_ChIP-ChIP_MCF-7_Human1.13575362
29* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.11877893
30* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.11522753
31Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.10082692
32SOX2_27498859_Chip-Seq_STOMACH_Mouse1.07225516
33ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03786515
34SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.03402966
35GATA2_21666600_ChIP-Seq_HMVEC_Human0.98024509
36CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.96531230
37NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.96399762
38PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.96319267
39GATA4_25053715_ChIP-Seq_YYC3_Human0.95072385
40CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.91359961
41TCF4_18268006_ChIP-ChIP_LS174T_Human0.91155576
42TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90651953
43ESR2_21235772_ChIP-Seq_MCF-7_Human0.90272814
44BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90094013
45* NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89553027
46KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89002879
47KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.85369978
48P63_26484246_Chip-Seq_KERATINOCYTES_Human0.85254131
49HIF1A_21447827_ChIP-Seq_MCF-7_Human0.85239777
50* GATA3_24758297_ChIP-Seq_MCF-7_Human0.83578898
51ZNF263_19887448_ChIP-Seq_K562_Human0.80501947
52CDX2_19796622_ChIP-Seq_MESCs_Mouse0.79153345
53SALL4_18804426_ChIP-ChIP_XEN_Mouse0.78513607
54CDX2_20551321_ChIP-Seq_CACO-2_Human0.78019826
55ZNF217_24962896_ChIP-Seq_MCF-7_Human0.75179013
56AUTS2_25519132_ChIP-Seq_293T-REX_Human0.75163654
57NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.74948445
58NRF2_20460467_ChIP-Seq_MEFs_Mouse0.74948445
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.74864558
60EGR1_19032775_ChIP-ChIP_M12_Human0.74304110
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.73600990
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.73321931
63ESR1_21235772_ChIP-Seq_MCF-7_Human0.71677043
64SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.71454840
65AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70948093
66CJUN_26792858_Chip-Seq_BT549_Human0.70907476
67KAP1_22055183_ChIP-Seq_ESCs_Mouse0.69470666
68BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.69084722
69SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.68286508
70LXR_22292898_ChIP-Seq_THP-1_Human0.68230994
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.67825479
72DNAJC2_21179169_ChIP-ChIP_NT2_Human0.67569714
73SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.67481873
74* RARA_24833708_ChIP-Seq_LIVER_Mouse0.67139054
75ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.67087428
76TP53_18474530_ChIP-ChIP_U2OS_Human0.66336229
77NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.65846404
78STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.64614755
79IRF8_27001747_Chip-Seq_BMDM_Mouse0.64253344
80GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.64054367
81SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.62415424
82SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.62415424
83RUNX1_27514584_Chip-Seq_MCF-7_Human0.62126629
84FOXO3_23340844_ChIP-Seq_DLD1_Human0.61874953
85NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.60601799
86* SOX2_20726797_ChIP-Seq_SW620_Human0.59780863
87IRF8_21731497_ChIP-ChIP_J774_Mouse0.59628651
88* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.59344446
89CEBPB_22108803_ChIP-Seq_LS180_Human0.58981660
90PPAR_26484153_Chip-Seq_NCI-H1993_Human0.58928983
91SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.58261685
92ELK3_25401928_ChIP-Seq_HUVEC_Human0.58124720
93SMC4_20622854_ChIP-Seq_HELA_Human0.57525475
94STAT3_1855785_ChIP-Seq_MESCs_Mouse0.57473264
95GATA1_19941826_ChIP-Seq_K562_Human0.55985680
96* RARB_24833708_ChIP-Seq_LIVER_Mouse0.55338020
97FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.54037385
98FOXA1_25552417_ChIP-Seq_VCAP_Human0.53739541
99TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.53437633
100FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.53413172
101MYC_19915707_ChIP-ChIP_AK7_Human0.53076827
102AR_20517297_ChIP-Seq_VCAP_Human0.52358305
103GATA6_25053715_ChIP-Seq_YYC3_Human0.51769271
104PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.51638765
105* GATA2_19941826_ChIP-Seq_K562_Human0.51549877
106ESR1_20079471_ChIP-ChIP_T-47D_Human0.50643390
107PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.50542356
108TRIM28_21343339_ChIP-Seq_HEK293_Human0.49494723
109PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.48834990
110GATA1_19941827_ChIP-Seq_MEL_Mouse0.48388272
111BRD4_27068464_Chip-Seq_AML-cells_Mouse0.48163104
112TAF2_19829295_ChIP-Seq_ESCs_Human0.46729657
113STAT1_17558387_ChIP-Seq_HELA_Human0.43836239
114ESET_19884257_ChIP-Seq_ESCs_Mouse0.43785368
115FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.43622705
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.43094105
117SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.43066209
118FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.42454484
119GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.41734605
120PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.41348538
121NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.41250439
122P53_21459846_ChIP-Seq_SAOS-2_Human0.40654913
123CBP_21632823_ChIP-Seq_H3396_Human0.40620659
124ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.40575619
125CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.40431479
126RACK7_27058665_Chip-Seq_MCF-7_Human0.40271430
127BP1_19119308_ChIP-ChIP_Hs578T_Human0.39549713
128ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.39452014

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.88984592
2MP0005360_urolithiasis7.35828326
3MP0005085_abnormal_gallbladder_physiolo6.07002122
4MP0005365_abnormal_bile_salt5.78333064
5MP0008875_abnormal_xenobiotic_pharmacok4.80668997
6MP0003806_abnormal_nucleotide_metabolis3.90723560
7MP0003252_abnormal_bile_duct3.89164383
8MP0010329_abnormal_lipoprotein_level3.47795888
9MP0009840_abnormal_foam_cell3.30480891
10MP0005083_abnormal_biliary_tract3.03589828
11MP0003195_calcinosis2.79829130
12MP0005332_abnormal_amino_acid2.74483496
13MP0003191_abnormal_cellular_cholesterol2.63373378
14MP0001666_abnormal_nutrient_absorption2.51692389
15MP0004019_abnormal_vitamin_homeostasis2.26811907
16MP0000609_abnormal_liver_physiology2.16046629
17MP0002138_abnormal_hepatobiliary_system2.14238955
18MP0000678_abnormal_parathyroid_gland2.08937463
19MP0002118_abnormal_lipid_homeostasis2.05757835
20MP0005319_abnormal_enzyme/_coenzyme1.85385935
21MP0001764_abnormal_homeostasis1.69504890
22MP0003868_abnormal_feces_composition1.65471606
23MP0005584_abnormal_enzyme/coenzyme_acti1.57382567
24MP0009643_abnormal_urine_homeostasis1.40160923
25MP0003705_abnormal_hypodermis_morpholog1.38697569
26MP0005451_abnormal_body_composition1.37910476
27MP0003186_abnormal_redox_activity1.37863095
28MP0009697_abnormal_copulation1.31996941
29MP0003011_delayed_dark_adaptation1.31884597
30MP0000604_amyloidosis1.24895256
31MP0002254_reproductive_system_inflammat1.24581484
32MP0009764_decreased_sensitivity_to1.22069108
33MP0003656_abnormal_erythrocyte_physiolo1.21094817
34MP0002132_abnormal_respiratory_system1.19393434
35MP0000598_abnormal_liver_morphology1.18534414
36MP0005023_abnormal_wound_healing1.15786447
37MP0003303_peritoneal_inflammation1.15763135
38MP0009763_increased_sensitivity_to1.08932401
39* MP0008469_abnormal_protein_level1.05334935
40MP0005647_abnormal_sex_gland1.04295747
41MP0005636_abnormal_mineral_homeostasis1.02603936
42MP0010368_abnormal_lymphatic_system0.97805371
43MP0010155_abnormal_intestine_physiology0.96776884
44MP0005670_abnormal_white_adipose0.92825490
45MP0003724_increased_susceptibility_to0.92451627
46MP0001915_intracranial_hemorrhage0.89120892
47* MP0009642_abnormal_blood_homeostasis0.88475844
48MP0003183_abnormal_peptide_metabolism0.85242431
49MP0002909_abnormal_adrenal_gland0.82492409
50MP0005376_homeostasis/metabolism_phenot0.80001649
51MP0005409_darkened_coat_color0.79905351
52MP0002971_abnormal_brown_adipose0.78577561
53MP0009765_abnormal_xenobiotic_induced0.78412002
54MP0003690_abnormal_glial_cell0.78077596
55MP0002876_abnormal_thyroid_physiology0.77268988
56MP0004130_abnormal_muscle_cell0.76155087
57MP0003879_abnormal_hair_cell0.74882894
58MP0006036_abnormal_mitochondrial_physio0.74751022
59MP0002078_abnormal_glucose_homeostasis0.74749315
60MP0004272_abnormal_basement_membrane0.74690376
61MP0001756_abnormal_urination0.74598782
62MP0005408_hypopigmentation0.74417244
63MP0005334_abnormal_fat_pad0.70423901
64MP0005464_abnormal_platelet_physiology0.70414897
65MP0005084_abnormal_gallbladder_morpholo0.70394972
66MP0001661_extended_life_span0.69683160
67MP0002089_abnormal_postnatal_growth/wei0.69520594
68MP0005535_abnormal_body_temperature0.69047710
69MP0003329_amyloid_beta_deposits0.67362367
70MP0003075_altered_response_to0.66850294
71MP0003566_abnormal_cell_adhesion0.65482630
72MP0005058_abnormal_lysosome_morphology0.65045950
73MP0002136_abnormal_kidney_physiology0.64564565
74MP0003300_gastrointestinal_ulcer0.64059605
75MP0005220_abnormal_exocrine_pancreas0.63541827
76MP0003950_abnormal_plasma_membrane0.62818254
77MP0004782_abnormal_surfactant_physiolog0.62590189
78MP0000858_altered_metastatic_potential0.61099574
79MP0009053_abnormal_anal_canal0.59897462
80MP0006054_spinal_hemorrhage0.59852320
81* MP0003436_decreased_susceptibility_to0.59245357
82MP0009785_altered_susceptibility_to0.59188064
83MP0005166_decreased_susceptibility_to0.58470096
84MP0006082_CNS_inflammation0.58352015
85MP0002928_abnormal_bile_duct0.58234608
86MP0000566_synostosis0.56868499
87MP0005395_other_phenotype0.56738626
88MP0008438_abnormal_cutaneous_collagen0.55864301
89MP0005666_abnormal_adipose_tissue0.55405342
90MP0005448_abnormal_energy_balance0.55287542
91MP0008004_abnormal_stomach_pH0.54443741
92MP0002896_abnormal_bone_mineralization0.54378303
93MP0010234_abnormal_vibrissa_follicle0.54174048
94MP0005266_abnormal_metabolism0.53793347
95MP0005387_immune_system_phenotype0.51709743
96MP0001790_abnormal_immune_system0.51709743
97MP0000685_abnormal_immune_system0.50960730
98MP0001845_abnormal_inflammatory_respons0.50468128
99MP0002796_impaired_skin_barrier0.50368508
100MP0002933_joint_inflammation0.49522173
101* MP0001533_abnormal_skeleton_physiology0.48850858
102MP0005165_increased_susceptibility_to0.48757328
103MP0002282_abnormal_trachea_morphology0.47971048
104MP0003638_abnormal_response/metabolism_0.47722551
105MP0000639_abnormal_adrenal_gland0.46646363
106MP0002168_other_aberrant_phenotype0.46378100
107MP0008873_increased_physiological_sensi0.46231016
108MP0000249_abnormal_blood_vessel0.45974149
109MP0003172_abnormal_lysosome_physiology0.45382422
110MP0004883_abnormal_blood_vessel0.45347027
111MP0005164_abnormal_response_to0.44797039
112MP0001881_abnormal_mammary_gland0.44472592
113MP0003718_maternal_effect0.43487503
114MP0004264_abnormal_extraembryonic_tissu0.43432013
115MP0006035_abnormal_mitochondrial_morpho0.43145004
116MP0004947_skin_inflammation0.41519771
117MP0005167_abnormal_blood-brain_barrier0.40405975
118* MP0005025_abnormal_response_to0.40296869
119MP0009115_abnormal_fat_cell0.40168950
120MP0001853_heart_inflammation0.39681790
121MP0001243_abnormal_dermal_layer0.39562356
122MP0008874_decreased_physiological_sensi0.39124640
123MP0003953_abnormal_hormone_level0.37546904
124MP0003453_abnormal_keratinocyte_physiol0.36664055
125* MP0002419_abnormal_innate_immunity0.36595168
126MP0002060_abnormal_skin_morphology0.33471677
127MP0000230_abnormal_systemic_arterial0.32800156
128MP0002970_abnormal_white_adipose0.31511063

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.20938884
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.87270010
3Intrahepatic cholestasis (HP:0001406)6.87023771
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.31757904
5Prolonged partial thromboplastin time (HP:0003645)6.28551033
6Xanthomatosis (HP:0000991)6.15127774
7Hypobetalipoproteinemia (HP:0003563)5.97165742
8Complement deficiency (HP:0004431)5.55050523
9Hyperlipoproteinemia (HP:0010980)5.21187632
10Joint hemorrhage (HP:0005261)4.87229023
11Hypolipoproteinemia (HP:0010981)4.57497104
12Hyperammonemia (HP:0001987)4.45854624
13Abnormality of the common coagulation pathway (HP:0010990)4.44660171
14Abnormality of glutamine family amino acid metabolism (HP:0010902)4.44386301
15Epidermoid cyst (HP:0200040)4.37957348
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.20268301
17Hyperglycinemia (HP:0002154)4.16828112
18Abnormality of complement system (HP:0005339)4.13846836
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.08986952
20Ketosis (HP:0001946)4.08963982
21Hypoalphalipoproteinemia (HP:0003233)4.07973980
22Hyperglycinuria (HP:0003108)4.04278051
23Abnormality of aspartate family amino acid metabolism (HP:0010899)3.94685517
24Abnormality of glycine metabolism (HP:0010895)3.93673686
25Abnormality of serine family amino acid metabolism (HP:0010894)3.93673686
26Abnormality of methionine metabolism (HP:0010901)3.91216272
27Fat malabsorption (HP:0002630)3.90278250
28Hypoglycemic coma (HP:0001325)3.74572616
29Abnormality of pyrimidine metabolism (HP:0004353)3.56894613
30Abnormality of the intrinsic pathway (HP:0010989)3.54983696
31Hypercholesterolemia (HP:0003124)3.51408815
32Conjugated hyperbilirubinemia (HP:0002908)3.46877834
33Systemic lupus erythematosus (HP:0002725)3.37211551
34Abnormality of fatty-acid metabolism (HP:0004359)3.29788309
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.18972127
36Myocardial infarction (HP:0001658)3.13713296
37Abnormality of nucleobase metabolism (HP:0010932)3.13533258
38Hyperbilirubinemia (HP:0002904)3.11571988
39Purpura (HP:0000979)3.06348859
40Spontaneous abortion (HP:0005268)3.00899160
41Ketoacidosis (HP:0001993)2.94588671
42Hepatocellular carcinoma (HP:0001402)2.93804809
43Abnormality of purine metabolism (HP:0004352)2.91852581
44Recurrent gram-negative bacterial infections (HP:0005420)2.89257962
45Steatorrhea (HP:0002570)2.88450243
46Glomerulonephritis (HP:0000099)2.87406721
47Delayed CNS myelination (HP:0002188)2.84874408
48Abnormality of serum amino acid levels (HP:0003112)2.83082859
49Skin nodule (HP:0200036)2.73902684
50Gout (HP:0001997)2.72479778
51Vascular calcification (HP:0004934)2.71552225
52Metabolic acidosis (HP:0001942)2.67005550
53Dicarboxylic aciduria (HP:0003215)2.60839499
54Abnormality of dicarboxylic acid metabolism (HP:0010995)2.60839499
55Hypochromic microcytic anemia (HP:0004840)2.60716662
56Lethargy (HP:0001254)2.48938319
57Spastic diplegia (HP:0001264)2.48012999
58Acanthocytosis (HP:0001927)2.46147021
59Esophageal varix (HP:0002040)2.44900161
60Cardiovascular calcification (HP:0011915)2.44012177
61Amyloidosis (HP:0011034)2.43760714
62Mitral stenosis (HP:0001718)2.41973629
63Gingival bleeding (HP:0000225)2.40142274
64Abnormality of proline metabolism (HP:0010907)2.36801045
65Hydroxyprolinuria (HP:0003080)2.36801045
66Hypoglycemic seizures (HP:0002173)2.34888948
67Abnormal gallbladder morphology (HP:0012437)2.33662064
68Neonatal onset (HP:0003623)2.32685696
69Irritability (HP:0000737)2.29228841
70Cholelithiasis (HP:0001081)2.29044570
71Malnutrition (HP:0004395)2.26393749
72Menorrhagia (HP:0000132)2.25103149
73Cholecystitis (HP:0001082)2.22561818
74Abnormal gallbladder physiology (HP:0012438)2.22561818
75Hemorrhage of the eye (HP:0011885)2.20941189
76Pancreatitis (HP:0001733)2.20837427
77Osteomalacia (HP:0002749)2.19273035
78Cerebral edema (HP:0002181)2.17178516
79Increased serum ferritin (HP:0003281)2.16188817
80Thrombophlebitis (HP:0004418)2.15851731
81Hyperphosphatemia (HP:0002905)2.14566561
82Sensorimotor neuropathy (HP:0007141)2.13887498
83Generalized aminoaciduria (HP:0002909)2.13745764
84Joint swelling (HP:0001386)2.11765684
85Pulmonary embolism (HP:0002204)2.11560952
86Nephritis (HP:0000123)2.10280635
87Late onset (HP:0003584)2.06463612
88Vomiting (HP:0002013)2.04522617
89Alkalosis (HP:0001948)2.01802345
90Abnormal cartilage morphology (HP:0002763)2.00875164
91Enlarged kidneys (HP:0000105)1.99514585
92Abnormality of iron homeostasis (HP:0011031)1.99485261
93Mucopolysacchariduria (HP:0008155)1.97190997
94Urinary glycosaminoglycan excretion (HP:0003541)1.97190997
95Abnormality of transition element cation homeostasis (HP:0011030)1.95991188
96Rickets (HP:0002748)1.93228214
97Opisthotonus (HP:0002179)1.91185838
98Poikilocytosis (HP:0004447)1.91037002
99Hypophosphatemia (HP:0002148)1.90821365
100Abnormality of the gallbladder (HP:0005264)1.90335051
101Abnormal enzyme/coenzyme activity (HP:0012379)1.90149311
102Elevated alkaline phosphatase (HP:0003155)1.89393628
103Gangrene (HP:0100758)1.88735445
104Hyperuricemia (HP:0002149)1.88144379
105Increased purine levels (HP:0004368)1.88144379
106Hyperphosphaturia (HP:0003109)1.86012493
107Proximal tubulopathy (HP:0000114)1.85739101
108Abnormality of the Achilles tendon (HP:0005109)1.85718748
109Brushfield spots (HP:0001088)1.84564496
110Vacuolated lymphocytes (HP:0001922)1.83284989
111Hyperinsulinemic hypoglycemia (HP:0000825)1.82548521
112Abnormality of glycosaminoglycan metabolism (HP:0004371)1.81436376
113Abnormality of mucopolysaccharide metabolism (HP:0011020)1.81436376
114Abnormality of polysaccharide metabolism (HP:0011012)1.81436376
115Abnormality of alkaline phosphatase activity (HP:0004379)1.80711531
116Hypertriglyceridemia (HP:0002155)1.75935562
117Nausea (HP:0002018)1.75044377
118Orchitis (HP:0100796)1.74825819
119Tetany (HP:0001281)1.74542593
120Hypophosphatemic rickets (HP:0004912)1.74516673
121Abnormality of vitamin metabolism (HP:0100508)1.74005182
122Arthropathy (HP:0003040)1.70944837
123Abnormality of carpal bone ossification (HP:0006257)1.70179440
124Widely patent fontanelles and sutures (HP:0004492)1.69074549
125Flat acetabular roof (HP:0003180)1.69037250
126Epistaxis (HP:0000421)1.67719039
127Abnormal tarsal ossification (HP:0008369)1.67676582
128Metaphyseal irregularity (HP:0003025)1.63002149
129Abnormal urine phosphate concentration (HP:0012599)1.62416196
130Glomerulosclerosis (HP:0000096)1.62087411
131Fair hair (HP:0002286)1.60959177
132Focal segmental glomerulosclerosis (HP:0000097)1.59284543
133Retrobulbar optic neuritis (HP:0100654)1.59143640
134Optic neuritis (HP:0100653)1.59143640
135Glycosuria (HP:0003076)1.57385973
136Abnormality of urine glucose concentration (HP:0011016)1.57385973

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.94741380
2FGFR44.50843930
3ERN14.45985870
4SIK13.96031703
5MST1R2.87198052
6TAOK32.70926395
7LMTK22.65774519
8ERBB42.42749967
9INSRR2.39961748
10TYK22.32165156
11TRIB32.18710255
12PKN22.10196549
13ICK1.92589956
14PDGFRA1.83311837
15TBK11.79715870
16STK38L1.71883560
17DDR21.67727376
18MAPK111.66721640
19MAP2K41.65713105
20MAP3K71.59430242
21PTK61.56344527
22PDK21.55662284
23PIK3CG1.50218742
24FLT31.48030532
25ABL21.45222146
26FRK1.43788960
27MAP3K141.42525629
28JAK11.42057941
29KDR1.37728613
30DAPK21.36246710
31EPHB11.33308981
32STK241.31845801
33NEK91.30572354
34LATS11.29032595
35MAP3K121.28021994
36JAK21.26454177
37NUAK11.24164611
38CDC42BPA1.22014632
39CSK1.20656513
40IKBKE1.17748972
41RIPK11.11414805
42MET1.07188680
43EPHA31.05624262
44TGFBR21.05287714
45PRKAA21.02676212
46CAMK1D1.02217604
47PIK3CA1.01566435
48MYLK0.99625466
49ERBB20.99029603
50GRK60.98675356
51MAPKAPK30.98594850
52MAP2K30.96269981
53PRKG20.94577409
54FGFR20.92144770
55MAP3K30.91090630
56NLK0.90660705
57PRPF4B0.89845345
58IRAK30.89100001
59TIE10.88549789
60MATK0.85635481
61FGFR30.85530498
62MAP3K100.85155653
63EPHA20.84448910
64MAPK40.80024321
65EPHB20.73214123
66PRKCZ0.72795453
67LATS20.70254539
68CDK60.69332609
69PDPK10.69230343
70MAP2K20.67707195
71PBK0.67558625
72GSK3A0.67372728
73MAP3K110.66123473
74SMG10.65348961
75PIM20.65215535
76PRKACG0.64773135
77BLK0.64686949
78PDGFRB0.62894419
79MAP2K10.61200216
80PTK20.60738537
81KIT0.60520351
82MAPK150.60477452
83TAOK20.60076309
84MAP3K60.59540390
85CSF1R0.57490313
86PINK10.55129765
87CDK120.54069997
88MAPK120.54062220
89BMX0.53767356
90MAP3K130.53559382
91CAMK2G0.52498118
92PRKCQ0.51797072
93ACVR1B0.51249821
94PRKAA10.49514205
95FGFR10.49300366
96SGK30.49124656
97DYRK1B0.48891533
98WNK40.47990607
99AKT30.47198541
100MAP4K10.47151636
101HIPK20.47045764
102CDK40.46598640
103PAK40.46281244
104PDK10.45733322
105SRC0.45265300
106IGF1R0.43499137
107NEK60.43428131
108JAK30.43079834
109EGFR0.42937622
110MAP2K60.42898536
111CAMK1G0.42388669
112ZAP700.40449981
113GRK70.39188850
114PKN10.37805690
115GRK10.36414377
116MAP3K10.35492939
117IKBKB0.35184204
118STK380.34509063
119FGR0.34145330
120RET0.33444875
121MAP3K50.32427736
122TRPM70.31670307
123TEC0.30637191
124CHUK0.30463701
125STK390.29583828
126FER0.28506951
127MAPK70.27375502
128MTOR0.27358416
129ABL10.25715616
130MAP3K20.25637850
131IRAK10.25141222
132TESK10.25095293
133TYRO30.23413367
134MAPK30.23244813
135PRKCA0.19505888
136SGK20.19175627

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.35874412
2Nitrogen metabolism_Homo sapiens_hsa009103.63812668
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.37828217
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.27610515
5Arginine biosynthesis_Homo sapiens_hsa002203.04677742
6* Complement and coagulation cascades_Homo sapiens_hsa046102.84412767
7Tryptophan metabolism_Homo sapiens_hsa003802.64130960
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.57350096
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.56020432
10Fatty acid degradation_Homo sapiens_hsa000712.53971880
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.43623604
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.39237366
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.30874764
14Butanoate metabolism_Homo sapiens_hsa006502.17646557
15Peroxisome_Homo sapiens_hsa041462.08397679
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.07620233
17* Staphylococcus aureus infection_Homo sapiens_hsa051501.99298750
18Propanoate metabolism_Homo sapiens_hsa006401.94131010
19PPAR signaling pathway_Homo sapiens_hsa033201.93408089
20Histidine metabolism_Homo sapiens_hsa003401.90120052
21Chemical carcinogenesis_Homo sapiens_hsa052041.88611723
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.85489911
23Fatty acid metabolism_Homo sapiens_hsa012121.84350211
24Caffeine metabolism_Homo sapiens_hsa002321.83549988
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.82442152
26beta-Alanine metabolism_Homo sapiens_hsa004101.72338671
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.67173466
28Retinol metabolism_Homo sapiens_hsa008301.64353410
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62190908
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.59911803
31Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.57609820
32Phenylalanine metabolism_Homo sapiens_hsa003601.52900541
33Bile secretion_Homo sapiens_hsa049761.49056059
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.48309981
35Selenocompound metabolism_Homo sapiens_hsa004501.47659275
36Tyrosine metabolism_Homo sapiens_hsa003501.43862814
37Pyruvate metabolism_Homo sapiens_hsa006201.42783772
38Sulfur metabolism_Homo sapiens_hsa009201.33653752
39Starch and sucrose metabolism_Homo sapiens_hsa005001.31475307
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31100661
41Fat digestion and absorption_Homo sapiens_hsa049751.26472999
42Fatty acid elongation_Homo sapiens_hsa000621.25539406
43ABC transporters_Homo sapiens_hsa020101.20215821
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.18699744
45Steroid biosynthesis_Homo sapiens_hsa001001.18515228
46Carbon metabolism_Homo sapiens_hsa012001.17080796
47Folate biosynthesis_Homo sapiens_hsa007901.14938446
48Biosynthesis of amino acids_Homo sapiens_hsa012301.12564240
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.98875435
50Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97425237
51Arginine and proline metabolism_Homo sapiens_hsa003300.96290686
52Other glycan degradation_Homo sapiens_hsa005110.96177273
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96016826
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.95046821
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93254780
56Vitamin digestion and absorption_Homo sapiens_hsa049770.92509692
57Maturity onset diabetes of the young_Homo sapiens_hsa049500.91802419
58Sulfur relay system_Homo sapiens_hsa041220.88161357
59Vitamin B6 metabolism_Homo sapiens_hsa007500.79891287
60Lysine degradation_Homo sapiens_hsa003100.76653167
61Glycerolipid metabolism_Homo sapiens_hsa005610.72646904
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70236705
63Glutathione metabolism_Homo sapiens_hsa004800.67646921
64Pentose phosphate pathway_Homo sapiens_hsa000300.61450158
65One carbon pool by folate_Homo sapiens_hsa006700.59275878
66Fatty acid biosynthesis_Homo sapiens_hsa000610.58460144
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.51462522
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49289299
69Metabolic pathways_Homo sapiens_hsa011000.42358645
70Prion diseases_Homo sapiens_hsa050200.39822553
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33089333
72Galactose metabolism_Homo sapiens_hsa000520.30679925
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.29594675
74Protein digestion and absorption_Homo sapiens_hsa049740.29175764
75Linoleic acid metabolism_Homo sapiens_hsa005910.29107300
76Fructose and mannose metabolism_Homo sapiens_hsa000510.28956253
77Insulin resistance_Homo sapiens_hsa049310.27712260
78Sphingolipid metabolism_Homo sapiens_hsa006000.25015668
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21783180
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.15483896
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.09838219
82Glycosaminoglycan degradation_Homo sapiens_hsa005310.08107019
83TNF signaling pathway_Homo sapiens_hsa046680.04378440
84N-Glycan biosynthesis_Homo sapiens_hsa005100.04110717
85Glucagon signaling pathway_Homo sapiens_hsa049220.04108993
86AMPK signaling pathway_Homo sapiens_hsa041520.03024850
87NF-kappa B signaling pathway_Homo sapiens_hsa040640.02013667
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.01166160
89African trypanosomiasis_Homo sapiens_hsa051430.00498915
90Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1641104
91Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1628050
92Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1581521
93Toll-like receptor signaling pathway_Homo sapiens_hsa04620-0.1492772
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1448398
95Legionellosis_Homo sapiens_hsa05134-0.1280774
96Amoebiasis_Homo sapiens_hsa05146-0.1214336
97Malaria_Homo sapiens_hsa05144-0.1206303
98Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1156175
99Insulin signaling pathway_Homo sapiens_hsa04910-0.1024546
100Lysosome_Homo sapiens_hsa04142-0.1002966
101Mineral absorption_Homo sapiens_hsa04978-0.0929908
102Renin-angiotensin system_Homo sapiens_hsa04614-0.0863757
103Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0750027
104Hepatitis C_Homo sapiens_hsa05160-0.0570890
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0487571
106RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.0469299
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0400469
108Pancreatic secretion_Homo sapiens_hsa04972-0.0262931
109Asthma_Homo sapiens_hsa05310-0.0247200
110Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060-0.0231817
111ECM-receptor interaction_Homo sapiens_hsa04512-0.0074501
112Influenza A_Homo sapiens_hsa05164-0.0041432
113Pertussis_Homo sapiens_hsa05133-0.0017190

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