C6

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 component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)9.48576883
2epoxygenase P450 pathway (GO:0019373)9.33063978
3omega-hydroxylase P450 pathway (GO:0097267)9.19242166
4drug catabolic process (GO:0042737)9.05399943
5L-phenylalanine catabolic process (GO:0006559)7.48482086
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.48482086
7L-phenylalanine metabolic process (GO:0006558)7.14356971
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.14356971
9aromatic amino acid family catabolic process (GO:0009074)6.99640011
10indole-containing compound catabolic process (GO:0042436)6.60983009
11indolalkylamine catabolic process (GO:0046218)6.60983009
12tryptophan catabolic process (GO:0006569)6.60983009
13bile acid biosynthetic process (GO:0006699)6.43202498
14kynurenine metabolic process (GO:0070189)6.39130349
15complement activation, alternative pathway (GO:0006957)6.34532942
16drug metabolic process (GO:0017144)6.32966760
17tryptophan metabolic process (GO:0006568)6.17638606
18glyoxylate metabolic process (GO:0046487)5.96851264
19* regulation of protein activation cascade (GO:2000257)5.93216495
20ethanol metabolic process (GO:0006067)5.87283693
21oxidative demethylation (GO:0070989)5.81519990
22triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.75908842
23urea metabolic process (GO:0019627)5.73545320
24urea cycle (GO:0000050)5.73545320
25* regulation of complement activation (GO:0030449)5.61743786
26negative regulation of fibrinolysis (GO:0051918)5.59387047
27alpha-linolenic acid metabolic process (GO:0036109)5.48247949
28protein carboxylation (GO:0018214)5.47414547
29peptidyl-glutamic acid carboxylation (GO:0017187)5.47414547
30regulation of fibrinolysis (GO:0051917)5.47233569
31cysteine metabolic process (GO:0006534)5.31223837
32sulfur amino acid catabolic process (GO:0000098)5.29121529
33nitrogen cycle metabolic process (GO:0071941)5.27273808
34bile acid metabolic process (GO:0008206)5.26234275
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.21109244
36high-density lipoprotein particle remodeling (GO:0034375)5.08905932
37aromatic amino acid family metabolic process (GO:0009072)5.06299916
38regulation of plasminogen activation (GO:0010755)4.99899749
39serine family amino acid catabolic process (GO:0009071)4.98384799
40phenylpropanoid metabolic process (GO:0009698)4.85890552
41* regulation of humoral immune response (GO:0002920)4.85087726
42regulation of triglyceride catabolic process (GO:0010896)4.82961164
43coenzyme catabolic process (GO:0009109)4.77764016
44homocysteine metabolic process (GO:0050667)4.76523414
45lysine catabolic process (GO:0006554)4.70721140
46lysine metabolic process (GO:0006553)4.70721140
47tyrosine metabolic process (GO:0006570)4.67940628
48indolalkylamine metabolic process (GO:0006586)4.66410144
49alpha-amino acid catabolic process (GO:1901606)4.60877555
50negative regulation of blood coagulation (GO:0030195)4.57974940
51negative regulation of hemostasis (GO:1900047)4.57974940
52triglyceride homeostasis (GO:0070328)4.56622344
53acylglycerol homeostasis (GO:0055090)4.56622344
54amine catabolic process (GO:0009310)4.56406638
55cellular biogenic amine catabolic process (GO:0042402)4.56406638
56reverse cholesterol transport (GO:0043691)4.51741972
57disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.51536477
58killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.51536477
59bile acid and bile salt transport (GO:0015721)4.44857827
60glycine metabolic process (GO:0006544)4.43757718
61amino-acid betaine metabolic process (GO:0006577)4.43718986
62S-adenosylmethionine metabolic process (GO:0046500)4.41977760
63plasma lipoprotein particle remodeling (GO:0034369)4.40672576
64protein-lipid complex remodeling (GO:0034368)4.40672576
65macromolecular complex remodeling (GO:0034367)4.40672576
66ethanol oxidation (GO:0006069)4.36739782
67positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.35700117
68cellular glucuronidation (GO:0052695)4.33638558
69* cytolysis (GO:0019835)4.32427909
70imidazole-containing compound metabolic process (GO:0052803)4.31043378
71regulation of cholesterol esterification (GO:0010872)4.28627810
72cellular amino acid catabolic process (GO:0009063)4.24464080
73phospholipid efflux (GO:0033700)4.19826990
74serine family amino acid metabolic process (GO:0009069)4.19645114
75* complement activation, classical pathway (GO:0006958)4.18343198
76glutamate metabolic process (GO:0006536)4.17815148
77negative regulation of coagulation (GO:0050819)4.17506624
78negative regulation of wound healing (GO:0061045)4.15617634
79benzene-containing compound metabolic process (GO:0042537)4.14364511
80cellular ketone body metabolic process (GO:0046950)4.14216807
81negative regulation of complement activation (GO:0045916)4.13253154
82plasma lipoprotein particle clearance (GO:0034381)4.10522764
83* complement activation (GO:0006956)4.09317819
84negative regulation of sterol transport (GO:0032372)4.07695430
85negative regulation of cholesterol transport (GO:0032375)4.07695430
86fibrinolysis (GO:0042730)4.06111193
87dicarboxylic acid biosynthetic process (GO:0043650)4.03177786
88cellular modified amino acid catabolic process (GO:0042219)4.01342483
89hormone catabolic process (GO:0042447)4.00164502
90cholesterol efflux (GO:0033344)3.96159555
91* protein activation cascade (GO:0072376)3.95004078
92flavonoid metabolic process (GO:0009812)3.94782508
93arginine metabolic process (GO:0006525)3.93673352
94aldehyde catabolic process (GO:0046185)3.92431237
95acetyl-CoA metabolic process (GO:0006084)3.91776034
96serine family amino acid biosynthetic process (GO:0009070)3.91276813
97cofactor catabolic process (GO:0051187)3.89711735
98blood coagulation, intrinsic pathway (GO:0007597)3.86787130
99uronic acid metabolic process (GO:0006063)3.86238705
100glucuronate metabolic process (GO:0019585)3.86238705
101alkaloid metabolic process (GO:0009820)3.84995526
102positive regulation of blood coagulation (GO:0030194)3.83105950
103positive regulation of hemostasis (GO:1900048)3.83105950
104response to mercury ion (GO:0046689)3.80869267
105regulation of bile acid biosynthetic process (GO:0070857)3.80416359
106phospholipid homeostasis (GO:0055091)3.74927475
107regulation of cholesterol homeostasis (GO:2000188)3.74234877
108regulation of apoptotic cell clearance (GO:2000425)3.71440798
109acute inflammatory response (GO:0002526)3.70976736
110positive regulation of lipoprotein lipase activity (GO:0051006)3.69906603
111positive regulation of triglyceride lipase activity (GO:0061365)3.69906603
112organic acid catabolic process (GO:0016054)3.69131083
113carboxylic acid catabolic process (GO:0046395)3.69131083
114cholesterol homeostasis (GO:0042632)3.64742837
115negative regulation of protein activation cascade (GO:2000258)3.64431548
116plasma lipoprotein particle assembly (GO:0034377)3.63717184
117low-density lipoprotein particle remodeling (GO:0034374)3.61102279
118sterol homeostasis (GO:0055092)3.58810317
119ketone body metabolic process (GO:1902224)3.58079684
120negative regulation of lipase activity (GO:0060192)3.57948660
121NAD biosynthetic process (GO:0009435)3.57515882
122positive regulation of lipid catabolic process (GO:0050996)3.55743868
123negative regulation of humoral immune response (GO:0002921)3.55509547
124xenobiotic metabolic process (GO:0006805)3.55372668
125response to nitrosative stress (GO:0051409)3.54085977
126very-low-density lipoprotein particle assembly (GO:0034379)3.53953731
127pyridine nucleotide biosynthetic process (GO:0019363)3.53695823
128nicotinamide nucleotide biosynthetic process (GO:0019359)3.53695823
129positive regulation of coagulation (GO:0050820)3.51201688
130primary alcohol catabolic process (GO:0034310)3.50882884
131opsonization (GO:0008228)3.50193357
132intestinal cholesterol absorption (GO:0030299)3.49404418
133acute-phase response (GO:0006953)3.49297684
134oxaloacetate metabolic process (GO:0006107)3.38526826
135* regulation of acute inflammatory response (GO:0002673)3.29820912
136positive regulation of fatty acid biosynthetic process (GO:0045723)3.29323959

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.21083680
2* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.14811880
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.10597245
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.39954948
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.24716872
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.92130153
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.88188454
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.18106978
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.86588966
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.13105000
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.01436430
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.01328344
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8600733
14HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.91972987
15TRIM28_21343339_ChIP-Seq_HEK293_Human1.84442926
16GATA1_22025678_ChIP-Seq_K562_Human1.71250399
17CLOCK_20551151_ChIP-Seq_293T_Human1.62571039
18FOXA2_19822575_ChIP-Seq_HepG2_Human1.62153113
19HTT_18923047_ChIP-ChIP_STHdh_Human1.57963899
20HNF4A_19822575_ChIP-Seq_HepG2_Human1.38432438
21STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.33912039
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29690465
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22159169
24* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.19969620
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.18985483
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.15362681
27IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04194994
28CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.03807092
29PIAS1_25552417_ChIP-Seq_VCAP_Human1.01802858
30HNFA_21074721_ChIP-Seq_CACO-2_Human1.00384407
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98717321
32PHF8_20622853_ChIP-Seq_HELA_Human0.96731819
33ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.96494894
34PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95280212
35TP53_18474530_ChIP-ChIP_U2OS_Human0.95136525
36IRF8_22096565_ChIP-ChIP_GC-B_Human0.94703302
37RARG_19884340_ChIP-ChIP_MEFs_Mouse0.90780237
38GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.87286539
39NFYA_21822215_ChIP-Seq_K562_Human0.87098434
40ESR1_15608294_ChIP-ChIP_MCF-7_Human0.85873759
41TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.84586431
42NFE2_27457419_Chip-Seq_LIVER_Mouse0.84533413
43Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.82934913
44EP300_21415370_ChIP-Seq_HL-1_Mouse0.82337869
45GATA6_21074721_ChIP-Seq_CACO-2_Human0.80259709
46CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.80236155
47GATA4_25053715_ChIP-Seq_YYC3_Human0.79431634
48BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78757644
49ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77877228
50PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.77484480
51ESR2_21235772_ChIP-Seq_MCF-7_Human0.77161254
52AUTS2_25519132_ChIP-Seq_293T-REX_Human0.75558851
53CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.74345332
54KAP1_22055183_ChIP-Seq_ESCs_Mouse0.74011682
55AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73946047
56SALL4_18804426_ChIP-ChIP_XEN_Mouse0.73501848
57CBX2_22325352_ChIP-Seq_293T-Rex_Human0.72953591
58ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.72784159
59SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72754074
60RARA_24833708_ChIP-Seq_LIVER_Mouse0.72280804
61CDX2_19796622_ChIP-Seq_MESCs_Mouse0.70972177
62ETV1_20927104_ChIP-Seq_GIST48_Human0.70454211
63SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.70410350
64RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.69952417
65TBX20_22080862_ChIP-Seq_HEART_Mouse0.69782481
66TBX20_22328084_ChIP-Seq_HEART_Mouse0.69782481
67* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69752281
68* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69752281
69EZH2_27294783_Chip-Seq_NPCs_Mouse0.68970860
70PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.67979247
71SOX2_21211035_ChIP-Seq_LN229_Human0.67044968
72NFYB_21822215_ChIP-Seq_K562_Human0.65542612
73RARB_24833708_ChIP-Seq_LIVER_Mouse0.64468807
74NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.63188951
75ZNF263_19887448_ChIP-Seq_K562_Human0.62718488
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62404716
77ESR1_21235772_ChIP-Seq_MCF-7_Human0.61795745
78SUZ12_27294783_Chip-Seq_NPCs_Mouse0.61324532
79TCF4_18268006_ChIP-ChIP_LS174T_Human0.60586928
80STAT3_1855785_ChIP-Seq_MESCs_Mouse0.59790654
81CDX2_22108803_ChIP-Seq_LS180_Human0.59323735
82DROSHA_22980978_ChIP-Seq_HELA_Human0.59206458
83POU3F2_20337985_ChIP-ChIP_501MEL_Human0.58227202
84ER_23166858_ChIP-Seq_MCF-7_Human0.58218054
85EGR1_19032775_ChIP-ChIP_M12_Human0.58214829
86* SMC4_20622854_ChIP-Seq_HELA_Human0.57437076
87CDX2_20551321_ChIP-Seq_CACO-2_Human0.56992964
88SPI1_20517297_ChIP-Seq_HL60_Human0.56396167
89CEBPB_22108803_ChIP-Seq_LS180_Human0.56370127
90BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.55680258
91RBPJ_21746931_ChIP-Seq_IB4_Human0.55455432
92FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.55409860
93FOXO3_23340844_ChIP-Seq_DLD1_Human0.55060335
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.54809215
95FOXA1_25552417_ChIP-Seq_VCAP_Human0.54680378
96AR_20517297_ChIP-Seq_VCAP_Human0.53686860
97TBL1_22424771_ChIP-Seq_293T_Human0.53459999
98PCGF2_27294783_Chip-Seq_NPCs_Mouse0.53449086
99CRX_20693478_ChIP-Seq_RETINA_Mouse0.53267987
100NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.53256967
101CTCF_27219007_Chip-Seq_Bcells_Human0.52906960
102MYC_19915707_ChIP-ChIP_AK7_Human0.52790521
103FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51952635
104ESR1_20079471_ChIP-ChIP_T-47D_Human0.51438652
105LXR_22292898_ChIP-Seq_THP-1_Human0.49913011
106PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.49537450
107PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.49241433
108CBP_21632823_ChIP-Seq_H3396_Human0.48757578
109TAF15_26573619_Chip-Seq_HEK293_Human0.48605397
110* ESET_19884257_ChIP-Seq_ESCs_Mouse0.46516102
111STAT1_17558387_ChIP-Seq_HELA_Human0.46015260
112BCAT_22108803_ChIP-Seq_LS180_Human0.45593583
113FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.44984756
114PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44242252
115FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.44148219
116PPAR_26484153_Chip-Seq_NCI-H1993_Human0.42808303
117P53_21459846_ChIP-Seq_SAOS-2_Human0.42733631
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.42475430
119TAF2_19829295_ChIP-Seq_ESCs_Human0.42132147
120CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.41652596
121SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40069519
122STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.39863994
123* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.39488403
124GATA6_25053715_ChIP-Seq_YYC3_Human0.39311566
125GATA2_19941826_ChIP-Seq_K562_Human0.38977726
126GATA1_19941827_ChIP-Seq_MEL_Mouse0.38927114
127MYC_27129775_Chip-Seq_CORNEA_Mouse0.38666969
128GATA1_19941826_ChIP-Seq_K562_Human0.38447237
129SPI1_26923725_Chip-Seq_HPCs_Mouse0.37432779
130SOX2_20726797_ChIP-Seq_SW620_Human0.37389770
131ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.37371051
132ERG_20517297_ChIP-Seq_VCAP_Human0.37049196
133SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.36770492
134ERG_21242973_ChIP-ChIP_JURKAT_Human0.35922269
135CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.34918075
136GATA3_24758297_ChIP-Seq_MCF-7_Human0.34346594
137FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.33982697
138EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.33899634

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.18704891
2MP0005360_urolithiasis7.53684187
3MP0005085_abnormal_gallbladder_physiolo6.55558880
4MP0005365_abnormal_bile_salt6.17917332
5MP0008875_abnormal_xenobiotic_pharmacok4.70476905
6MP0003806_abnormal_nucleotide_metabolis4.35591085
7MP0003252_abnormal_bile_duct4.02584351
8MP0010329_abnormal_lipoprotein_level3.56799248
9MP0009840_abnormal_foam_cell3.04496154
10MP0005083_abnormal_biliary_tract3.00588168
11MP0005332_abnormal_amino_acid2.65048323
12MP0001666_abnormal_nutrient_absorption2.63922357
13MP0003195_calcinosis2.61416231
14MP0003191_abnormal_cellular_cholesterol2.48580223
15MP0000609_abnormal_liver_physiology2.16727265
16MP0002118_abnormal_lipid_homeostasis2.10908502
17MP0002138_abnormal_hepatobiliary_system2.04402065
18MP0003868_abnormal_feces_composition2.01497246
19MP0004019_abnormal_vitamin_homeostasis1.98176765
20MP0005319_abnormal_enzyme/_coenzyme1.84041329
21MP0001764_abnormal_homeostasis1.65514830
22MP0009697_abnormal_copulation1.55003752
23MP0005584_abnormal_enzyme/coenzyme_acti1.53644374
24MP0005647_abnormal_sex_gland1.32358802
25MP0003011_delayed_dark_adaptation1.30258989
26MP0003705_abnormal_hypodermis_morpholog1.24892553
27MP0010368_abnormal_lymphatic_system1.24747281
28MP0003186_abnormal_redox_activity1.22395124
29MP0009643_abnormal_urine_homeostasis1.20256979
30MP0000598_abnormal_liver_morphology1.16502423
31MP0003656_abnormal_erythrocyte_physiolo1.15589195
32MP0009764_decreased_sensitivity_to1.09116456
33MP0002254_reproductive_system_inflammat1.03470253
34MP0009763_increased_sensitivity_to1.02220205
35MP0005670_abnormal_white_adipose1.01097963
36MP0005451_abnormal_body_composition0.97832832
37MP0000604_amyloidosis0.97243672
38MP0008469_abnormal_protein_level0.94246254
39MP0005636_abnormal_mineral_homeostasis0.90085903
40MP0002876_abnormal_thyroid_physiology0.86987184
41MP0009642_abnormal_blood_homeostasis0.85157403
42MP0005408_hypopigmentation0.84538855
43MP0004130_abnormal_muscle_cell0.83878637
44MP0002282_abnormal_trachea_morphology0.82264649
45MP0004381_abnormal_hair_follicle0.80569697
46MP0005220_abnormal_exocrine_pancreas0.79316107
47MP0005187_abnormal_penis_morphology0.78618840
48MP0005084_abnormal_gallbladder_morpholo0.78583579
49MP0005376_homeostasis/metabolism_phenot0.78035734
50MP0006036_abnormal_mitochondrial_physio0.76847495
51MP0001915_intracranial_hemorrhage0.76033002
52MP0004782_abnormal_surfactant_physiolog0.75960088
53MP0002078_abnormal_glucose_homeostasis0.75039757
54MP0005535_abnormal_body_temperature0.74306499
55MP0009765_abnormal_xenobiotic_induced0.73642464
56MP0005334_abnormal_fat_pad0.72767990
57MP0005330_cardiomyopathy0.72570975
58MP0002971_abnormal_brown_adipose0.72428133
59MP0003690_abnormal_glial_cell0.71692006
60MP0002332_abnormal_exercise_endurance0.65771395
61MP0003724_increased_susceptibility_to0.64857091
62MP0009384_cardiac_valve_regurgitation0.64467060
63MP0005266_abnormal_metabolism0.63858689
64MP0008872_abnormal_physiological_respon0.61927712
65MP0001661_extended_life_span0.60612101
66MP0009379_abnormal_foot_pigmentation0.60584309
67MP0005023_abnormal_wound_healing0.59208675
68MP0004215_abnormal_myocardial_fiber0.58211522
69MP0004084_abnormal_cardiac_muscle0.58076633
70MP0002249_abnormal_larynx_morphology0.57976185
71MP0000751_myopathy0.57930834
72MP0006138_congestive_heart_failure0.57270692
73MP0003879_abnormal_hair_cell0.57265149
74MP0000639_abnormal_adrenal_gland0.56105270
75MP0009053_abnormal_anal_canal0.54910052
76MP0000579_abnormal_nail_morphology0.54130673
77MP0001756_abnormal_urination0.53116546
78MP0000566_synostosis0.53035968
79MP0003329_amyloid_beta_deposits0.51992117
80MP0002928_abnormal_bile_duct0.51970788
81MP0006035_abnormal_mitochondrial_morpho0.51641616
82MP0001544_abnormal_cardiovascular_syste0.50652525
83MP0005385_cardiovascular_system_phenoty0.50652525
84MP0005448_abnormal_energy_balance0.50105574
85MP0005666_abnormal_adipose_tissue0.49810760
86MP0002796_impaired_skin_barrier0.47922402
87MP0003436_decreased_susceptibility_to0.47289143
88MP0005464_abnormal_platelet_physiology0.47116548
89MP0008775_abnormal_heart_ventricle0.46965493
90MP0004036_abnormal_muscle_relaxation0.46826624
91MP0009785_altered_susceptibility_to0.46437931
92MP0005395_other_phenotype0.44339653
93MP0003075_altered_response_to0.42320546
94MP0002136_abnormal_kidney_physiology0.41816336
95MP0003638_abnormal_response/metabolism_0.41538129
96MP0003646_muscle_fatigue0.41408869
97MP0002837_dystrophic_cardiac_calcinosis0.40935931
98MP0008873_increased_physiological_sensi0.40535492
99MP0008874_decreased_physiological_sensi0.39481699
100MP0003718_maternal_effect0.39352146
101MP0005165_increased_susceptibility_to0.39223397
102MP0010630_abnormal_cardiac_muscle0.39188248
103MP0004510_myositis0.38913156
104MP0005164_abnormal_response_to0.38909713
105MP0005248_abnormal_Harderian_gland0.38677971
106MP0003953_abnormal_hormone_level0.37962182
107MP0002822_catalepsy0.37449187
108MP0009115_abnormal_fat_cell0.36648504
109MP0002132_abnormal_respiratory_system0.36504806
110MP0009780_abnormal_chondrocyte_physiolo0.36262070
111MP0005075_abnormal_melanosome_morpholog0.35581348
112MP0002972_abnormal_cardiac_muscle0.35541765
113MP0002128_abnormal_blood_circulation0.35520359
114MP0004484_altered_response_of0.35004672
115MP0001881_abnormal_mammary_gland0.34846400
116MP0000427_abnormal_hair_cycle0.33421339
117MP0000467_abnormal_esophagus_morphology0.33197078
118* MP0005166_decreased_susceptibility_to0.32900887
119MP0002269_muscular_atrophy0.32831638
120MP0002970_abnormal_white_adipose0.32436731
121MP0002060_abnormal_skin_morphology0.31991435
122MP0006082_CNS_inflammation0.31882039
123MP0009672_abnormal_birth_weight0.31609683
124MP0004883_abnormal_blood_vessel0.31065466
125MP0005058_abnormal_lysosome_morphology0.30843042
126MP0000249_abnormal_blood_vessel0.30579034
127MP0004087_abnormal_muscle_fiber0.30352518
128MP0000230_abnormal_systemic_arterial0.30341496
129MP0004264_abnormal_extraembryonic_tissu0.29440413
130MP0001845_abnormal_inflammatory_respons0.29285149
131MP0002295_abnormal_pulmonary_circulatio0.27950467
132MP0002168_other_aberrant_phenotype0.27822020

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.80193726
2Deep venous thrombosis (HP:0002625)7.38822543
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.16861541
4Prolonged partial thromboplastin time (HP:0003645)6.66741771
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.56998828
6* Complement deficiency (HP:0004431)6.44446711
7Xanthomatosis (HP:0000991)6.20476109
8Hypobetalipoproteinemia (HP:0003563)6.09332427
9Hyperlipoproteinemia (HP:0010980)5.27187813
10Joint hemorrhage (HP:0005261)4.80843550
11Abnormality of the common coagulation pathway (HP:0010990)4.62823677
12Epidermoid cyst (HP:0200040)4.61016766
13* Abnormality of complement system (HP:0005339)4.60623494
14Hyperglycinemia (HP:0002154)4.59482786
15Hypolipoproteinemia (HP:0010981)4.57914564
16Hyperammonemia (HP:0001987)4.49242607
17Fat malabsorption (HP:0002630)4.48080142
18Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.18990020
19Ketosis (HP:0001946)4.12287749
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.05046383
21Hypoalphalipoproteinemia (HP:0003233)4.00477354
22Abnormality of the intrinsic pathway (HP:0010989)3.98431229
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.94105816
24Abnormality of methionine metabolism (HP:0010901)3.92069784
25Abnormality of serine family amino acid metabolism (HP:0010894)3.88352825
26Abnormality of glycine metabolism (HP:0010895)3.88352825
27Abnormality of aspartate family amino acid metabolism (HP:0010899)3.86275102
28Hyperglycinuria (HP:0003108)3.85450651
29Conjugated hyperbilirubinemia (HP:0002908)3.83202743
30Hypoglycemic coma (HP:0001325)3.72385707
31Abnormality of pyrimidine metabolism (HP:0004353)3.64623893
32Systemic lupus erythematosus (HP:0002725)3.59484002
33Steatorrhea (HP:0002570)3.52432072
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.36695246
35Hypercholesterolemia (HP:0003124)3.34003600
36Abnormality of fatty-acid metabolism (HP:0004359)3.24937830
37Hyperbilirubinemia (HP:0002904)3.15903833
38Hypochromic microcytic anemia (HP:0004840)3.15563413
39Myocardial infarction (HP:0001658)3.14867723
40Spontaneous abortion (HP:0005268)3.13558683
41Abnormality of serum amino acid levels (HP:0003112)3.05170987
42Hepatocellular carcinoma (HP:0001402)3.01832107
43Delayed CNS myelination (HP:0002188)2.98621857
44Abnormality of nucleobase metabolism (HP:0010932)2.98090537
45Skin nodule (HP:0200036)2.92274777
46Ketoacidosis (HP:0001993)2.89329844
47Neonatal hypoglycemia (HP:0001998)2.69127132
48Abnormality of purine metabolism (HP:0004352)2.64823859
49Metabolic acidosis (HP:0001942)2.64051195
50Gout (HP:0001997)2.61781995
51Osteomalacia (HP:0002749)2.53499534
52Neonatal onset (HP:0003623)2.49869114
53Lethargy (HP:0001254)2.49064811
54Mitral stenosis (HP:0001718)2.46870954
55Spastic diplegia (HP:0001264)2.46707703
56Purpura (HP:0000979)2.46018685
57Abnormal gallbladder morphology (HP:0012437)2.45022929
58Glomerulonephritis (HP:0000099)2.44623080
59Dicarboxylic aciduria (HP:0003215)2.43268440
60Abnormality of dicarboxylic acid metabolism (HP:0010995)2.43268440
61Cholelithiasis (HP:0001081)2.41519360
62Acanthocytosis (HP:0001927)2.41371931
63Atrioventricular block (HP:0001678)2.38699686
64Hypoglycemic seizures (HP:0002173)2.38085744
65Vascular calcification (HP:0004934)2.38043676
66Fair hair (HP:0002286)2.37001001
67Sensorimotor neuropathy (HP:0007141)2.35266126
68Cholecystitis (HP:0001082)2.33338109
69Abnormal gallbladder physiology (HP:0012438)2.33338109
70Pulmonary embolism (HP:0002204)2.29914369
71* Recurrent gram-negative bacterial infections (HP:0005420)2.28038202
72Amyloidosis (HP:0011034)2.27474884
73Cerebral edema (HP:0002181)2.25907773
74Irritability (HP:0000737)2.24351680
75Gingival bleeding (HP:0000225)2.20614683
76Esophageal varix (HP:0002040)2.19665206
77Pancreatitis (HP:0001733)2.19101123
78Malnutrition (HP:0004395)2.15620659
79Cardiovascular calcification (HP:0011915)2.11233154
80Thrombophlebitis (HP:0004418)2.10519676
81Hemorrhage of the eye (HP:0011885)2.09817148
82Enlarged kidneys (HP:0000105)2.08250377
83Brushfield spots (HP:0001088)2.07746662
84Reduced antithrombin III activity (HP:0001976)2.05667119
85Abnormality of the gallbladder (HP:0005264)2.04081236
86Late onset (HP:0003584)2.02138266
87Opisthotonus (HP:0002179)2.02026600
88Menorrhagia (HP:0000132)2.01232338
89Vomiting (HP:0002013)1.99774126
90Joint swelling (HP:0001386)1.93027347
91Abnormal enzyme/coenzyme activity (HP:0012379)1.92969727
92Hyperinsulinemic hypoglycemia (HP:0000825)1.92188720
93Abnormal cartilage morphology (HP:0002763)1.91651411
94Rickets (HP:0002748)1.90051285
95Generalized aminoaciduria (HP:0002909)1.86536538
96Abnormality of iron homeostasis (HP:0011031)1.86295551
97Hyperphosphaturia (HP:0003109)1.85088437
98Abnormality of transition element cation homeostasis (HP:0011030)1.85041901
99Abnormality of urine glucose concentration (HP:0011016)1.83622452
100Glycosuria (HP:0003076)1.83622452
101Heart block (HP:0012722)1.82936065
102Elevated hepatic transaminases (HP:0002910)1.82772924
103Renal cortical cysts (HP:0000803)1.82490672
104Poikilocytosis (HP:0004447)1.81379284
105Hyperglycemia (HP:0003074)1.80856656
106Increased serum ferritin (HP:0003281)1.80538690
107Nephritis (HP:0000123)1.77580341
108Status epilepticus (HP:0002133)1.77336105
109Hypophosphatemic rickets (HP:0004912)1.74604120
110Arthropathy (HP:0003040)1.73797301
111Elevated alkaline phosphatase (HP:0003155)1.73691800
112Abnormality of alkaline phosphatase activity (HP:0004379)1.73387657
113Abnormal atrioventricular conduction (HP:0005150)1.72723196
114Gangrene (HP:0100758)1.71637126
115Abnormality of vitamin metabolism (HP:0100508)1.70040900
116Increased serum pyruvate (HP:0003542)1.70029994
117Abnormality of proline metabolism (HP:0010907)1.67634587
118Hydroxyprolinuria (HP:0003080)1.67634587
119Bifid scrotum (HP:0000048)1.65235743
120Abnormal biliary tract physiology (HP:0012439)1.63875660
121Bile duct proliferation (HP:0001408)1.63875660
122Epistaxis (HP:0000421)1.63658589
123Generalized hypopigmentation of hair (HP:0011358)1.62697513
124Cerebral palsy (HP:0100021)1.60854640
125Blue irides (HP:0000635)1.58740466
126Abnormality of the Achilles tendon (HP:0005109)1.57306039
127Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.57141880
128Potter facies (HP:0002009)1.54264280
129Facial shape deformation (HP:0011334)1.54264280
130Increased mean platelet volume (HP:0011877)1.52908312

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.52193021
2ERN15.12008917
3FGFR44.70371634
4MYLK4.44468951
5SIK14.11467657
6ERBB43.85411818
7TAOK33.28041471
8INSRR2.74781522
9TTN2.36200273
10MAP2K42.24278148
11MAPK112.18873667
12MST1R2.13615547
13LATS11.88074077
14TYK21.82244542
15EPHA21.81606415
16TRIB31.78149883
17PIK3CG1.64800178
18FGFR21.58202409
19NEK91.58167837
20LMTK21.52517847
21FLT31.44625465
22PTK61.42667035
23NLK1.39879364
24ABL21.39364294
25PRPF4B1.38561934
26JAK21.35912462
27FRK1.34094518
28PKN21.33879794
29OBSCN1.31741433
30PDK21.31441628
31MAP3K21.29689628
32DAPK21.29262489
33ERBB21.28124861
34MAP3K71.27178771
35DMPK1.21660433
36JAK11.19210751
37MUSK1.18297261
38FER1.09876517
39KDR1.08732454
40TBK11.08032876
41MAPK151.07160866
42PRKAA21.07004810
43GRK61.02178682
44TRPM71.01817841
45MAP3K141.01586660
46MAP2K31.00165575
47MAPKAPK30.99931120
48EPHB10.99888472
49MAP3K100.99571569
50EPHA30.99178802
51TIE10.97812446
52IRAK30.97671561
53BLK0.94566020
54CDK60.93889292
55MAPK40.91598089
56MET0.91477732
57NTRK30.91460201
58STK38L0.89528564
59PRKD10.89445319
60PINK10.88985474
61PRKG10.88208445
62PRKCZ0.87564212
63PRKACA0.86778517
64CAMK1D0.86017414
65PKN10.83474777
66CAMK2G0.83265552
67TGFBR20.80712762
68MAP3K30.79804535
69FGFR30.77410693
70RIPK10.75835540
71MAPK120.74982250
72GSK3A0.73317771
73PRKACG0.71320769
74MAP3K110.66793441
75CSK0.64009789
76PRKAA10.63223082
77PRKCE0.59850630
78SGK30.58303784
79DYRK1B0.57213009
80TNK20.56989163
81CAMK2D0.56867309
82MAPK70.55485948
83CSF1R0.55106272
84RPS6KA30.54586724
85MAP2K60.53765333
86PRKACB0.53525784
87GRK70.52287621
88IKBKE0.51606423
89PTK20.51287880
90CAMKK20.49946870
91PDPK10.48974026
92EGFR0.48736889
93IGF1R0.47611646
94PRKCQ0.47395394
95GRK10.47155700
96STK380.47111641
97CDC42BPA0.46808619
98MAP2K10.44197303
99SGK10.44184885
100CAMK1G0.43781917
101SGK20.40654488
102CAMKK10.40509962
103CDK40.38943073
104ROCK10.38512129
105SRC0.38479530
106CSNK1G10.38467360
107AKT30.38452609
108KSR20.38294733
109ICK0.38050918
110PRKCB0.37415019
111AKT20.37159347
112BRSK20.36763627
113MAP3K50.36245561
114PRKCH0.36055112
115MAP3K130.35212242
116RET0.34705970
117MTOR0.34385718
118PRKCG0.34091900
119IRAK10.33573015
120LATS20.32925297
121BMX0.31566779
122PDGFRA0.31131039
123ABL10.30838342
124MAP3K60.29891634
125MAP3K10.29408661
126CAMK40.29048835
127ZAP700.25996072
128TAOK20.25964639
129SGK2230.24740387
130SGK4940.24740387
131STK30.24088760
132PDK10.23700702
133PRKCA0.23053517
134IRAK20.21964215
135PIK3CA0.21758815
136EPHA40.21491232
137PAK30.20425647

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001205.03582832
2Nitrogen metabolism_Homo sapiens_hsa009103.44911957
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.35836143
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.13478969
5Arginine biosynthesis_Homo sapiens_hsa002203.04334357
6* Complement and coagulation cascades_Homo sapiens_hsa046102.97534523
7Tryptophan metabolism_Homo sapiens_hsa003802.78572672
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.64715472
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.55815812
10Fatty acid degradation_Homo sapiens_hsa000712.50212191
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.40973506
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.40708383
13Peroxisome_Homo sapiens_hsa041462.13758395
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.11257734
15Butanoate metabolism_Homo sapiens_hsa006502.09913021
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.03641233
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.92820884
18PPAR signaling pathway_Homo sapiens_hsa033201.90669711
19Propanoate metabolism_Homo sapiens_hsa006401.88712849
20Staphylococcus aureus infection_Homo sapiens_hsa051501.88226394
21Histidine metabolism_Homo sapiens_hsa003401.85451165
22Caffeine metabolism_Homo sapiens_hsa002321.85312421
23Chemical carcinogenesis_Homo sapiens_hsa052041.82688708
24Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.80848878
25Fatty acid metabolism_Homo sapiens_hsa012121.76588331
26Retinol metabolism_Homo sapiens_hsa008301.69589238
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.67993399
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.67987916
29beta-Alanine metabolism_Homo sapiens_hsa004101.67291548
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.60889255
31Phenylalanine metabolism_Homo sapiens_hsa003601.57314157
32Selenocompound metabolism_Homo sapiens_hsa004501.55870420
33Tyrosine metabolism_Homo sapiens_hsa003501.52920100
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.51039827
35Bile secretion_Homo sapiens_hsa049761.48293315
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.46040876
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43430392
38Vitamin B6 metabolism_Homo sapiens_hsa007501.36391067
39Pyruvate metabolism_Homo sapiens_hsa006201.30984882
40Sulfur metabolism_Homo sapiens_hsa009201.30340755
41Fatty acid elongation_Homo sapiens_hsa000621.29125059
42Starch and sucrose metabolism_Homo sapiens_hsa005001.26853992
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.26424376
44ABC transporters_Homo sapiens_hsa020101.22747911
45Folate biosynthesis_Homo sapiens_hsa007901.20856112
46Biosynthesis of amino acids_Homo sapiens_hsa012301.14419451
47Fat digestion and absorption_Homo sapiens_hsa049751.14122347
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12071367
49Steroid biosynthesis_Homo sapiens_hsa001001.09663742
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.08961498
51Carbon metabolism_Homo sapiens_hsa012001.08001432
52Sulfur relay system_Homo sapiens_hsa041220.96455126
53Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.94108240
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89880508
55Arginine and proline metabolism_Homo sapiens_hsa003300.87339273
56Cyanoamino acid metabolism_Homo sapiens_hsa004600.86978246
57Vitamin digestion and absorption_Homo sapiens_hsa049770.78617558
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78171671
59Lysine degradation_Homo sapiens_hsa003100.78076687
60One carbon pool by folate_Homo sapiens_hsa006700.72881850
61Glycerolipid metabolism_Homo sapiens_hsa005610.66588552
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65433948
63Glutathione metabolism_Homo sapiens_hsa004800.64760030
64Fatty acid biosynthesis_Homo sapiens_hsa000610.59341096
65* Prion diseases_Homo sapiens_hsa050200.54810307
66Pentose phosphate pathway_Homo sapiens_hsa000300.52830306
67Metabolic pathways_Homo sapiens_hsa011000.44101929
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.42578504
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42272932
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.26247218
71Insulin resistance_Homo sapiens_hsa049310.25411550
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22842662
73Galactose metabolism_Homo sapiens_hsa000520.22750568
74Fructose and mannose metabolism_Homo sapiens_hsa000510.19787320
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.17344767
76Linoleic acid metabolism_Homo sapiens_hsa005910.17244610
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.11303491
78Glucagon signaling pathway_Homo sapiens_hsa049220.10412082
79AMPK signaling pathway_Homo sapiens_hsa041520.03856868
80Serotonergic synapse_Homo sapiens_hsa047260.02759272
81Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2187519
82Type II diabetes mellitus_Homo sapiens_hsa04930-0.2156397
83Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2144483
84Pancreatic secretion_Homo sapiens_hsa04972-0.2071615
85Pertussis_Homo sapiens_hsa05133-0.2027610
86Renin-angiotensin system_Homo sapiens_hsa04614-0.2012997
87Sphingolipid metabolism_Homo sapiens_hsa00600-0.1949621
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1892554
89Bladder cancer_Homo sapiens_hsa05219-0.1879668
90Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1688608
91Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1529277
92African trypanosomiasis_Homo sapiens_hsa05143-0.1343072
93Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1334513
94Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1266119
95Hepatitis C_Homo sapiens_hsa05160-0.1254380
96Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1245622
97Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410-0.1179963
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1138808
99* Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1131761
100Amoebiasis_Homo sapiens_hsa05146-0.1101916
101Regulation of autophagy_Homo sapiens_hsa04140-0.1084102
102Dilated cardiomyopathy_Homo sapiens_hsa05414-0.1052225
103Other glycan degradation_Homo sapiens_hsa00511-0.1038421
104Insulin signaling pathway_Homo sapiens_hsa04910-0.0928022
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0820355
106Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0729809
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0665705
108Circadian rhythm_Homo sapiens_hsa04710-0.0624646
109Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0623419
110Mineral absorption_Homo sapiens_hsa04978-0.0177820

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