C8B

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 one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)9.50539774
2omega-hydroxylase P450 pathway (GO:0097267)9.15147269
3epoxygenase P450 pathway (GO:0019373)8.97399588
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.73146519
5L-phenylalanine catabolic process (GO:0006559)7.73146519
6L-phenylalanine metabolic process (GO:0006558)7.36349931
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.36349931
8aromatic amino acid family catabolic process (GO:0009074)7.02872905
9indole-containing compound catabolic process (GO:0042436)6.42909753
10indolalkylamine catabolic process (GO:0046218)6.42909753
11tryptophan catabolic process (GO:0006569)6.42909753
12bile acid biosynthetic process (GO:0006699)6.27594355
13kynurenine metabolic process (GO:0070189)6.23139329
14drug metabolic process (GO:0017144)6.16437572
15tryptophan metabolic process (GO:0006568)6.03390633
16oxidative demethylation (GO:0070989)5.91790907
17glyoxylate metabolic process (GO:0046487)5.90975304
18triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.88820579
19urea cycle (GO:0000050)5.82308948
20urea metabolic process (GO:0019627)5.82308948
21* regulation of protein activation cascade (GO:2000257)5.77477870
22negative regulation of fibrinolysis (GO:0051918)5.73273364
23* complement activation, alternative pathway (GO:0006957)5.60929294
24regulation of fibrinolysis (GO:0051917)5.59292171
25regulation of plasminogen activation (GO:0010755)5.55677864
26ethanol metabolic process (GO:0006067)5.54392043
27peptidyl-glutamic acid carboxylation (GO:0017187)5.48598009
28protein carboxylation (GO:0018214)5.48598009
29* regulation of complement activation (GO:0030449)5.42397306
30cysteine metabolic process (GO:0006534)5.42241775
31sulfur amino acid catabolic process (GO:0000098)5.39435754
32nitrogen cycle metabolic process (GO:0071941)5.35339243
33alpha-linolenic acid metabolic process (GO:0036109)5.31322566
34high-density lipoprotein particle remodeling (GO:0034375)5.26583325
35bile acid metabolic process (GO:0008206)5.19683710
36aromatic amino acid family metabolic process (GO:0009072)5.09306368
37serine family amino acid catabolic process (GO:0009071)5.06212215
38fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.98370384
39homocysteine metabolic process (GO:0050667)4.94788701
40positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.89106924
41* regulation of humoral immune response (GO:0002920)4.85841156
42phenylpropanoid metabolic process (GO:0009698)4.83972324
43negative regulation of hemostasis (GO:1900047)4.83103284
44negative regulation of blood coagulation (GO:0030195)4.83103284
45tyrosine metabolic process (GO:0006570)4.82672994
46killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.80614180
47disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.80614180
48regulation of triglyceride catabolic process (GO:0010896)4.77883313
49alpha-amino acid catabolic process (GO:1901606)4.66175240
50lysine metabolic process (GO:0006553)4.65936146
51lysine catabolic process (GO:0006554)4.65936146
52reverse cholesterol transport (GO:0043691)4.64932511
53coenzyme catabolic process (GO:0009109)4.63079087
54protein-lipid complex remodeling (GO:0034368)4.56750813
55macromolecular complex remodeling (GO:0034367)4.56750813
56plasma lipoprotein particle remodeling (GO:0034369)4.56750813
57indolalkylamine metabolic process (GO:0006586)4.56502696
58triglyceride homeostasis (GO:0070328)4.55655924
59acylglycerol homeostasis (GO:0055090)4.55655924
60bile acid and bile salt transport (GO:0015721)4.46739805
61amino-acid betaine metabolic process (GO:0006577)4.46193343
62regulation of cholesterol esterification (GO:0010872)4.45918595
63S-adenosylmethionine metabolic process (GO:0046500)4.44310860
64cellular biogenic amine catabolic process (GO:0042402)4.43090774
65amine catabolic process (GO:0009310)4.43090774
66glycine metabolic process (GO:0006544)4.41961020
67negative regulation of coagulation (GO:0050819)4.38878844
68negative regulation of wound healing (GO:0061045)4.36373960
69imidazole-containing compound metabolic process (GO:0052803)4.34794933
70cellular amino acid catabolic process (GO:0009063)4.28980781
71phospholipid efflux (GO:0033700)4.26677722
72positive regulation of hemostasis (GO:1900048)4.24780558
73positive regulation of blood coagulation (GO:0030194)4.24780558
74glutamate metabolic process (GO:0006536)4.24240633
75cellular glucuronidation (GO:0052695)4.23719292
76serine family amino acid metabolic process (GO:0009069)4.19965366
77cellular ketone body metabolic process (GO:0046950)4.19365991
78plasma lipoprotein particle clearance (GO:0034381)4.18741524
79negative regulation of sterol transport (GO:0032372)4.17981662
80negative regulation of cholesterol transport (GO:0032375)4.17981662
81fibrinolysis (GO:0042730)4.12450095
82benzene-containing compound metabolic process (GO:0042537)4.11283036
83cellular modified amino acid catabolic process (GO:0042219)4.10551081
84ethanol oxidation (GO:0006069)4.10436433
85dicarboxylic acid biosynthetic process (GO:0043650)4.08340588
86cholesterol efflux (GO:0033344)4.04653737
87* cytolysis (GO:0019835)4.00199848
88arginine metabolic process (GO:0006525)3.99500145
89aldehyde catabolic process (GO:0046185)3.98706604
90* complement activation, classical pathway (GO:0006958)3.98523328
91negative regulation of complement activation (GO:0045916)3.98034913
92blood coagulation, intrinsic pathway (GO:0007597)3.96723489
93alkaloid metabolic process (GO:0009820)3.94694427
94serine family amino acid biosynthetic process (GO:0009070)3.94577430
95* complement activation (GO:0006956)3.92297524
96positive regulation of coagulation (GO:0050820)3.89041533
97cofactor catabolic process (GO:0051187)3.88910769
98* protein activation cascade (GO:0072376)3.87188921
99acute inflammatory response (GO:0002526)3.83906568
100plasma lipoprotein particle assembly (GO:0034377)3.81585084
101regulation of bile acid biosynthetic process (GO:0070857)3.78976619
102acetyl-CoA metabolic process (GO:0006084)3.77832564
103glucuronate metabolic process (GO:0019585)3.76675115
104uronic acid metabolic process (GO:0006063)3.76675115
105low-density lipoprotein particle remodeling (GO:0034374)3.76308742
106hormone catabolic process (GO:0042447)3.76248723
107regulation of apoptotic cell clearance (GO:2000425)3.75560735
108negative regulation of protein activation cascade (GO:2000258)3.72495883
109phospholipid homeostasis (GO:0055091)3.70625229
110organic acid catabolic process (GO:0016054)3.70088159
111carboxylic acid catabolic process (GO:0046395)3.70088159
112flavonoid metabolic process (GO:0009812)3.67355683
113cholesterol homeostasis (GO:0042632)3.67037682
114regulation of cholesterol homeostasis (GO:2000188)3.64259906
115positive regulation of lipoprotein lipase activity (GO:0051006)3.63038874
116positive regulation of triglyceride lipase activity (GO:0061365)3.63038874
117ketone body metabolic process (GO:1902224)3.62577839
118sterol homeostasis (GO:0055092)3.61049021
119very-low-density lipoprotein particle assembly (GO:0034379)3.60594312
120positive regulation of fatty acid biosynthetic process (GO:0045723)3.59074743
121drug catabolic process (GO:0042737)3.55808033
122acute-phase response (GO:0006953)3.55504425
123NAD biosynthetic process (GO:0009435)3.55152251
124positive regulation of lipid catabolic process (GO:0050996)3.54759218
125intestinal cholesterol absorption (GO:0030299)3.54628125
126opsonization (GO:0008228)3.53050353
127negative regulation of lipase activity (GO:0060192)3.51878715
128heme transport (GO:0015886)3.51696398
129sodium-independent organic anion transport (GO:0043252)3.45021198
130* regulation of acute inflammatory response (GO:0002673)3.40570535
131response to mercury ion (GO:0046689)3.40565186

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.29572332
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.21369956
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.13709630
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.43769758
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.33367979
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.13620226
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.43359419
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.11462128
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.07258081
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.57773296
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.05948928
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0211820
13HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.95562625
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90748369
15HTT_18923047_ChIP-ChIP_STHdh_Human1.63918555
16* FOXA2_19822575_ChIP-Seq_HepG2_Human1.62277382
17GATA1_22025678_ChIP-Seq_K562_Human1.60433135
18CLOCK_20551151_ChIP-Seq_293T_Human1.50209564
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.44098391
20* HNF4A_19822575_ChIP-Seq_HepG2_Human1.39956075
21STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.33141151
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22832739
23ESR1_20079471_ChIP-ChIP_T-47D_Human1.20486793
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.17184993
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16567595
26STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.15392668
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.13497564
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.10481792
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.06284944
30ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00431287
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.97445269
32ESR1_15608294_ChIP-ChIP_MCF-7_Human0.91883350
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.91716656
34IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.91216531
35IRF8_22096565_ChIP-ChIP_GC-B_Human0.86155656
36KAP1_22055183_ChIP-Seq_ESCs_Mouse0.81927193
37GATA4_25053715_ChIP-Seq_YYC3_Human0.81186632
38AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79680246
39* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.77797651
40RARA_24833708_ChIP-Seq_LIVER_Mouse0.76213832
41IRF1_19129219_ChIP-ChIP_H3396_Human0.75560010
42NFE2_27457419_Chip-Seq_LIVER_Mouse0.75161980
43SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75050462
44FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.74968841
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74868765
46* HNFA_21074721_ChIP-Seq_CACO-2_Human0.74672269
47BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.73940929
48ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.73622874
49TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.72929259
50AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.72713120
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71340780
52RARG_19884340_ChIP-ChIP_MEFs_Mouse0.71148020
53* PHF8_20622853_ChIP-Seq_HELA_Human0.70268605
54TP53_18474530_ChIP-ChIP_U2OS_Human0.70046011
55Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.69688620
56CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69457158
57NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.68392578
58NRF2_20460467_ChIP-Seq_MEFs_Mouse0.68392578
59PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.67961724
60RARB_24833708_ChIP-Seq_LIVER_Mouse0.67773921
61SOX2_21211035_ChIP-Seq_LN229_Human0.67265965
62ZNF263_19887448_ChIP-Seq_K562_Human0.66725610
63PIAS1_25552417_ChIP-Seq_VCAP_Human0.65665119
64* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.64339662
65ESR2_21235772_ChIP-Seq_MCF-7_Human0.62122246
66* NFYA_21822215_ChIP-Seq_K562_Human0.62090840
67EZH2_27294783_Chip-Seq_NPCs_Mouse0.61067270
68FOXA1_25552417_ChIP-Seq_VCAP_Human0.60659006
69SPI1_20517297_ChIP-Seq_HL60_Human0.60571407
70FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.60507913
71* GATA6_21074721_ChIP-Seq_CACO-2_Human0.60434563
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.59604429
73RAD21_21589869_ChIP-Seq_MESCs_Mouse0.59538957
74RAC3_21632823_ChIP-Seq_H3396_Human0.59095317
75* AR_20517297_ChIP-Seq_VCAP_Human0.56912574
76TCF4_18268006_ChIP-ChIP_LS174T_Human0.56534152
77POU3F2_20337985_ChIP-ChIP_501MEL_Human0.55450277
78CEBPB_22108803_ChIP-Seq_LS180_Human0.54231226
79BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.53884419
80* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.53657925
81MYC_19829295_ChIP-Seq_ESCs_Human0.53559669
82* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.53095536
83ER_23166858_ChIP-Seq_MCF-7_Human0.52909422
84EGR1_19032775_ChIP-ChIP_M12_Human0.52896997
85MYC_19915707_ChIP-ChIP_AK7_Human0.51974386
86STAT3_1855785_ChIP-Seq_MESCs_Mouse0.51595964
87SMC4_20622854_ChIP-Seq_HELA_Human0.51357566
88NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.50922128
89SUZ12_27294783_Chip-Seq_NPCs_Mouse0.50647041
90CBP_21632823_ChIP-Seq_H3396_Human0.50445976
91PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.50404457
92GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.49993096
93ESET_19884257_ChIP-Seq_ESCs_Mouse0.49817077
94GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.49270687
95EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.49182083
96DNAJC2_21179169_ChIP-ChIP_NT2_Human0.49020192
97* ETV1_20927104_ChIP-Seq_GIST48_Human0.48980204
98STAT1_17558387_ChIP-Seq_HELA_Human0.48726218
99SOX2_20726797_ChIP-Seq_SW620_Human0.48677444
100ESR1_21235772_ChIP-Seq_MCF-7_Human0.48520243
101P53_21459846_ChIP-Seq_SAOS-2_Human0.48383336
102NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.48311999
103CRX_20693478_ChIP-Seq_RETINA_Mouse0.48268086
104BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.47971075
105SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.47910193
106TAF15_26573619_Chip-Seq_HEK293_Human0.47061223
107* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.47048892
108CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.46480521
109P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.46038781
110CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.45699912
111GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.45634817
112PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.45067819
113FOXO3_23340844_ChIP-Seq_DLD1_Human0.44969208
114PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.43616430
115FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43460677
116LXR_22292898_ChIP-Seq_THP-1_Human0.43315417
117* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.41327634
118* TAF2_19829295_ChIP-Seq_ESCs_Human0.40421241
119BCAT_22108803_ChIP-Seq_LS180_Human0.40133208
120GATA6_25053715_ChIP-Seq_YYC3_Human0.39779735
121SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.39541216
122* ERG_20517297_ChIP-Seq_VCAP_Human0.39397855
123STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.39192332
124MYC_27129775_Chip-Seq_CORNEA_Mouse0.39097582
125SPI1_26923725_Chip-Seq_HPCs_Mouse0.39039574
126GATA1_19941826_ChIP-Seq_K562_Human0.38734661
127SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38676732
128CDX2_20551321_ChIP-Seq_CACO-2_Human0.38377194
129GATA1_19941827_ChIP-Seq_MEL_Mouse0.36384292
130GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.35992876
131NCOR_22424771_ChIP-Seq_293T_Human0.35989461
132GATA2_19941826_ChIP-Seq_K562_Human0.35734234
133FOXH1_21741376_ChIP-Seq_EPCs_Human0.35507517
134LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35210178
135EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.34896570
136ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.34447063
137CDX2_22108803_ChIP-Seq_LS180_Human0.34146597
138ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.33851272

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.11827286
2MP0005360_urolithiasis7.62541733
3MP0005085_abnormal_gallbladder_physiolo6.54655943
4MP0005365_abnormal_bile_salt6.26003226
5MP0008875_abnormal_xenobiotic_pharmacok4.86714445
6MP0003806_abnormal_nucleotide_metabolis4.30011410
7MP0003252_abnormal_bile_duct4.04590932
8MP0010329_abnormal_lipoprotein_level3.53158672
9MP0009840_abnormal_foam_cell3.03009196
10MP0005083_abnormal_biliary_tract3.00512921
11MP0003195_calcinosis2.99897161
12MP0005332_abnormal_amino_acid2.75827163
13MP0001666_abnormal_nutrient_absorption2.63923737
14MP0003191_abnormal_cellular_cholesterol2.24401343
15MP0000609_abnormal_liver_physiology2.15657879
16MP0004019_abnormal_vitamin_homeostasis2.13362589
17MP0003868_abnormal_feces_composition2.11346041
18MP0002118_abnormal_lipid_homeostasis2.07237889
19MP0002138_abnormal_hepatobiliary_system2.03223173
20MP0005319_abnormal_enzyme/_coenzyme1.83980232
21MP0001764_abnormal_homeostasis1.73325580
22MP0009697_abnormal_copulation1.60152210
23MP0005584_abnormal_enzyme/coenzyme_acti1.52985514
24MP0003011_delayed_dark_adaptation1.38171545
25MP0009643_abnormal_urine_homeostasis1.26153740
26MP0002132_abnormal_respiratory_system1.25111171
27MP0003656_abnormal_erythrocyte_physiolo1.25004382
28MP0003186_abnormal_redox_activity1.22927110
29MP0000598_abnormal_liver_morphology1.18529698
30MP0005647_abnormal_sex_gland1.18527090
31MP0003705_abnormal_hypodermis_morpholog1.12543435
32MP0005451_abnormal_body_composition1.10873139
33MP0010368_abnormal_lymphatic_system1.02490911
34MP0009763_increased_sensitivity_to1.01556281
35MP0005636_abnormal_mineral_homeostasis1.00610249
36MP0002254_reproductive_system_inflammat0.99999397
37MP0009764_decreased_sensitivity_to0.99454682
38MP0000604_amyloidosis0.98091064
39MP0005408_hypopigmentation0.94819863
40MP0005220_abnormal_exocrine_pancreas0.94185882
41MP0005084_abnormal_gallbladder_morpholo0.92866826
42MP0002282_abnormal_trachea_morphology0.92531194
43MP0008469_abnormal_protein_level0.91933675
44MP0005670_abnormal_white_adipose0.89349385
45MP0009642_abnormal_blood_homeostasis0.87709453
46MP0001915_intracranial_hemorrhage0.86892999
47MP0002078_abnormal_glucose_homeostasis0.83726974
48MP0006036_abnormal_mitochondrial_physio0.80090617
49MP0005376_homeostasis/metabolism_phenot0.79435413
50MP0002876_abnormal_thyroid_physiology0.75983360
51MP0009765_abnormal_xenobiotic_induced0.75019153
52MP0005535_abnormal_body_temperature0.71325013
53MP0005187_abnormal_penis_morphology0.71241452
54MP0002249_abnormal_larynx_morphology0.71041865
55MP0004130_abnormal_muscle_cell0.70283860
56MP0002971_abnormal_brown_adipose0.69436442
57MP0005334_abnormal_fat_pad0.67231973
58MP0000639_abnormal_adrenal_gland0.67197513
59MP0003879_abnormal_hair_cell0.66586112
60MP0001756_abnormal_urination0.64869945
61MP0005266_abnormal_metabolism0.64815343
62MP0001661_extended_life_span0.61667693
63MP0004381_abnormal_hair_follicle0.60918641
64MP0005023_abnormal_wound_healing0.60858627
65MP0002837_dystrophic_cardiac_calcinosis0.60302435
66MP0003690_abnormal_glial_cell0.60204787
67MP0009785_altered_susceptibility_to0.59411851
68MP0009053_abnormal_anal_canal0.58819300
69MP0005448_abnormal_energy_balance0.54724582
70MP0009384_cardiac_valve_regurgitation0.54470121
71MP0002928_abnormal_bile_duct0.54384682
72MP0006035_abnormal_mitochondrial_morpho0.53899744
73MP0003329_amyloid_beta_deposits0.53569245
74MP0005395_other_phenotype0.49161157
75MP0000579_abnormal_nail_morphology0.49029034
76MP0003718_maternal_effect0.47471888
77MP0009379_abnormal_foot_pigmentation0.46526733
78MP0003724_increased_susceptibility_to0.45683279
79MP0005164_abnormal_response_to0.44900131
80MP0005464_abnormal_platelet_physiology0.44890509
81MP0004883_abnormal_blood_vessel0.44843408
82MP0000249_abnormal_blood_vessel0.43885898
83MP0003953_abnormal_hormone_level0.43777569
84MP0004782_abnormal_surfactant_physiolog0.43346357
85MP0002136_abnormal_kidney_physiology0.43280979
86MP0005166_decreased_susceptibility_to0.43036648
87MP0003638_abnormal_response/metabolism_0.42513278
88MP0000566_synostosis0.42501517
89MP0008873_increased_physiological_sensi0.41937965
90MP0009672_abnormal_birth_weight0.39414660
91MP0002822_catalepsy0.38369942
92MP0008874_decreased_physiological_sensi0.37175044
93MP0005666_abnormal_adipose_tissue0.36949870
94MP0000467_abnormal_esophagus_morphology0.36833499
95MP0001944_abnormal_pancreas_morphology0.36628472
96MP0002796_impaired_skin_barrier0.36120941
97MP0003436_decreased_susceptibility_to0.35949189
98MP0003075_altered_response_to0.35843162
99MP0000230_abnormal_systemic_arterial0.35259914
100MP0005075_abnormal_melanosome_morpholog0.35095196
101MP0004264_abnormal_extraembryonic_tissu0.34582309
102MP0005248_abnormal_Harderian_gland0.32640870
103MP0002970_abnormal_white_adipose0.31811100
104MP0002332_abnormal_exercise_endurance0.31014766
105MP0001881_abnormal_mammary_gland0.30550665
106MP0000427_abnormal_hair_cycle0.30479686
107MP0001851_eye_inflammation0.30466488
108MP0002168_other_aberrant_phenotype0.29815052
109MP0002060_abnormal_skin_morphology0.28456315
110MP0009115_abnormal_fat_cell0.28213303
111MP0008872_abnormal_physiological_respon0.27744954
112MP0003959_abnormal_lean_body0.27731491
113MP0005058_abnormal_lysosome_morphology0.26905739
114MP0001243_abnormal_dermal_layer0.26905341
115MP0001845_abnormal_inflammatory_respons0.26753053
116MP0002128_abnormal_blood_circulation0.23037047
117MP0000920_abnormal_myelination0.18517448
118MP0003632_abnormal_nervous_system0.18329617
119MP0003633_abnormal_nervous_system0.17976896
120MP0000858_altered_metastatic_potential0.16891238
121MP0001986_abnormal_taste_sensitivity0.16727232

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.71614446
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.46437208
3Deep venous thrombosis (HP:0002625)7.40678011
4Prolonged partial thromboplastin time (HP:0003645)6.76210495
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.65024387
6Xanthomatosis (HP:0000991)6.26209682
7Hypobetalipoproteinemia (HP:0003563)6.21844824
8* Complement deficiency (HP:0004431)5.89727027
9Hyperlipoproteinemia (HP:0010980)5.29764080
10Joint hemorrhage (HP:0005261)4.82184110
11Abnormality of the common coagulation pathway (HP:0010990)4.70521878
12Hypolipoproteinemia (HP:0010981)4.67417740
13Epidermoid cyst (HP:0200040)4.66913936
14Hyperammonemia (HP:0001987)4.49867234
15Hyperglycinemia (HP:0002154)4.40709627
16Fat malabsorption (HP:0002630)4.37047866
17Nephritis (HP:0000123)4.28771452
18Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.26588522
19Ketosis (HP:0001946)4.24504768
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.21068418
21* Abnormality of complement system (HP:0005339)4.18352470
22Abnormality of methionine metabolism (HP:0010901)4.18156962
23Abnormality of the intrinsic pathway (HP:0010989)4.08921442
24Abnormality of glutamine family amino acid metabolism (HP:0010902)4.06838806
25Hypoalphalipoproteinemia (HP:0003233)4.06414867
26Abnormality of aspartate family amino acid metabolism (HP:0010899)4.03705294
27Hypoglycemic coma (HP:0001325)3.97515829
28Conjugated hyperbilirubinemia (HP:0002908)3.90205925
29Hyperglycinuria (HP:0003108)3.77303413
30Abnormality of glycine metabolism (HP:0010895)3.76599582
31Abnormality of serine family amino acid metabolism (HP:0010894)3.76599582
32Abnormality of pyrimidine metabolism (HP:0004353)3.72094500
33Hypercholesterolemia (HP:0003124)3.43406033
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.41364569
35Hyperbilirubinemia (HP:0002904)3.32543330
36Steatorrhea (HP:0002570)3.31227788
37Abnormality of fatty-acid metabolism (HP:0004359)3.24095286
38Systemic lupus erythematosus (HP:0002725)3.19627218
39Spontaneous abortion (HP:0005268)3.15543459
40Hypochromic microcytic anemia (HP:0004840)3.11262781
41Ketoacidosis (HP:0001993)3.09148335
42Abnormality of serum amino acid levels (HP:0003112)3.04612135
43Hepatocellular carcinoma (HP:0001402)3.01574368
44Myocardial infarction (HP:0001658)2.98629364
45Abnormality of nucleobase metabolism (HP:0010932)2.97060463
46Skin nodule (HP:0200036)2.97029143
47Delayed CNS myelination (HP:0002188)2.95950213
48Hypoglycemic seizures (HP:0002173)2.72748087
49Purpura (HP:0000979)2.67521901
50Acanthocytosis (HP:0001927)2.66004300
51Neonatal hypoglycemia (HP:0001998)2.65431940
52Metabolic acidosis (HP:0001942)2.64441604
53Abnormality of purine metabolism (HP:0004352)2.59543445
54Abnormal gallbladder morphology (HP:0012437)2.55121565
55Lethargy (HP:0001254)2.54255745
56Osteomalacia (HP:0002749)2.54081118
57Fair hair (HP:0002286)2.54019893
58Gout (HP:0001997)2.53941073
59Mitral stenosis (HP:0001718)2.46157647
60Pulmonary embolism (HP:0002204)2.44918100
61Neonatal onset (HP:0003623)2.44418031
62Cholelithiasis (HP:0001081)2.42000866
63Glomerulonephritis (HP:0000099)2.41855123
64Abnormality of dicarboxylic acid metabolism (HP:0010995)2.40306459
65Dicarboxylic aciduria (HP:0003215)2.40306459
66Irritability (HP:0000737)2.37918513
67Spastic diplegia (HP:0001264)2.37746935
68Cerebral edema (HP:0002181)2.37334216
69Abnormal gallbladder physiology (HP:0012438)2.37121215
70Cholecystitis (HP:0001082)2.37121215
71Vascular calcification (HP:0004934)2.35630687
72Hyperinsulinemic hypoglycemia (HP:0000825)2.33401993
73Sensorimotor neuropathy (HP:0007141)2.27893372
74Amyloidosis (HP:0011034)2.25764179
75Gingival bleeding (HP:0000225)2.25311064
76Enlarged kidneys (HP:0000105)2.19698769
77Late onset (HP:0003584)2.19361405
78Joint swelling (HP:0001386)2.17951943
79Pancreatitis (HP:0001733)2.17195089
80Esophageal varix (HP:0002040)2.13832328
81Hyperglycemia (HP:0003074)2.13080340
82Brushfield spots (HP:0001088)2.11936836
83Abnormality of the gallbladder (HP:0005264)2.09580385
84Thrombophlebitis (HP:0004418)2.07885000
85Cardiovascular calcification (HP:0011915)2.07707777
86Menorrhagia (HP:0000132)2.05440941
87Malnutrition (HP:0004395)2.04021557
88* Recurrent gram-negative bacterial infections (HP:0005420)1.99021750
89Vomiting (HP:0002013)1.98779443
90Opisthotonus (HP:0002179)1.97662535
91Poikilocytosis (HP:0004447)1.96649109
92Epistaxis (HP:0000421)1.95824777
93Abnormality of the Achilles tendon (HP:0005109)1.93991576
94Abnormal enzyme/coenzyme activity (HP:0012379)1.92966998
95Generalized aminoaciduria (HP:0002909)1.92641230
96Hemorrhage of the eye (HP:0011885)1.92444342
97Increased serum ferritin (HP:0003281)1.92282024
98Rickets (HP:0002748)1.90640599
99Arthropathy (HP:0003040)1.87340739
100Abnormality of transition element cation homeostasis (HP:0011030)1.85993860
101Abnormality of iron homeostasis (HP:0011031)1.85074608
102Reduced antithrombin III activity (HP:0001976)1.84305704
103Hyperphosphaturia (HP:0003109)1.83420190
104Elevated hepatic transaminases (HP:0002910)1.83218335
105Gangrene (HP:0100758)1.82992726
106Abnormal cartilage morphology (HP:0002763)1.82577876
107Abnormality of vitamin metabolism (HP:0100508)1.82107986
108Symptomatic seizures (HP:0011145)1.81968403
109Renal cortical cysts (HP:0000803)1.80464108
110Abnormality of alkaline phosphatase activity (HP:0004379)1.79891964
111Generalized hypopigmentation of hair (HP:0011358)1.76084167
112Elevated alkaline phosphatase (HP:0003155)1.75017788
113Alkalosis (HP:0001948)1.73199474
114Abnormal delivery (HP:0001787)1.73067607
115Hypophosphatemic rickets (HP:0004912)1.72704648
116Status epilepticus (HP:0002133)1.72647468
117Cerebral palsy (HP:0100021)1.70333233
118Acute hepatic failure (HP:0006554)1.70086625
119Bifid scrotum (HP:0000048)1.70047390
120Abnormality of urine glucose concentration (HP:0011016)1.64480384
121Glycosuria (HP:0003076)1.64480384
122Increased mean platelet volume (HP:0011877)1.61825944
123Blue irides (HP:0000635)1.59022392
124Atrioventricular block (HP:0001678)1.51250705
125Increased serum pyruvate (HP:0003542)1.49396710
126Abnormality of proline metabolism (HP:0010907)1.48436881
127Hydroxyprolinuria (HP:0003080)1.48436881
128Abnormal urine phosphate concentration (HP:0012599)1.47181288
129Abnormal biliary tract physiology (HP:0012439)1.46944760
130Bile duct proliferation (HP:0001408)1.46944760

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.49465604
2ERN14.64134837
3FGFR44.52922527
4SIK14.01294409
5ERBB43.92619375
6TAOK33.64185406
7INSRR3.31911730
8PIK3CA2.44045869
9MAPK152.42188658
10MAP2K42.26928238
11MAPK112.19876231
12PIK3CG2.19670396
13MST1R2.10330702
14FRK1.94709223
15LATS11.86553294
16NTRK31.74105475
17FLT31.63969460
18TYK21.58461707
19NEK91.58398606
20PRPF4B1.46592278
21PTK61.45705492
22PKN21.42209064
23TRIB31.41991978
24ABL21.40087780
25JAK21.32560379
26NLK1.29786718
27ERBB21.29636539
28FGFR21.20505619
29DAPK21.20473701
30MAP3K71.15120701
31FER1.13913421
32TNK21.12179464
33PINK11.06783170
34PRKAA21.06593671
35EPHA31.05806596
36JAK11.04043839
37KDR1.01172866
38CAMKK21.00742848
39STK38L0.99659783
40GRK60.90692987
41MAP3K100.90486665
42PRKG10.89879483
43MET0.89306415
44TBK10.86581021
45MAPK40.86414804
46PRKCZ0.84403423
47CAMK2G0.83199712
48MAP3K140.81445639
49MAP3K30.80356024
50PRKACA0.80282491
51EPHB10.79078471
52MAP2K30.78030823
53AKT30.75624220
54DYRK1B0.75042357
55IRAK30.74168994
56BLK0.72220132
57PRKAA10.71549916
58PRKACG0.71336171
59CDK60.70479140
60ZAP700.70232361
61PKN10.68933057
62EPHA40.67885820
63GSK3A0.67805792
64PDK20.67740982
65CSK0.66586741
66RIPK10.64615521
67MAPK120.63561205
68SGK30.61899886
69FGFR30.61476810
70PTK20.60941127
71CAMKK10.59006737
72TIE10.58909343
73CSNK1E0.58895002
74CSNK1D0.57023495
75MAP3K130.56858317
76PRKACB0.55661049
77PRKCB0.55465014
78RPS6KA30.54191079
79MAP3K110.52511674
80MAPK70.51519880
81CAMK1D0.49990837
82PAK30.48798926
83PDGFRA0.48589532
84BRSK20.48424103
85MAP2K60.48336782
86MAP3K20.47946883
87MYLK0.47600886
88SRC0.46679778
89CSNK1G10.46233952
90MAP3K60.46095373
91WNK30.45695358
92PDPK10.45445895
93SGK20.44387595
94TAOK20.44274576
95CSNK2A10.43857077
96PRKCQ0.43190247
97IGF1R0.43174651
98SGK10.42522274
99MAP2K10.42288488
100IKBKE0.41762382
101MAP3K50.41092592
102IRAK10.39853621
103PRKCG0.39779213
104MAP3K10.39582465
105MTOR0.39169587
106CSF1R0.37638106
107RET0.37233559
108EGFR0.36410758
109SCYL20.35904303
110TGFBR20.35165730
111GRK10.34927738
112ARAF0.34151098
113SGK4940.34042785
114SGK2230.34042785
115CSNK2A20.33706645
116WNK40.32517124
117MAPK30.31380655
118CDK40.30720798
119PRKCH0.30201469
120ICK0.29474461
121MAPKAPK30.28710691
122LATS20.27046299
123AKT20.26578108
124CSNK1G20.26539890
125PRKCA0.25153856
126KSR20.24113740
127PDK10.23539719
128ABL10.22794688
129CSNK1G30.22699694
130CAMK40.22493582
131PDK30.21745701
132PDK40.21745701
133PBK0.20932233

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.87488748
2Nitrogen metabolism_Homo sapiens_hsa009103.71109588
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.46448309
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.16908054
5Arginine biosynthesis_Homo sapiens_hsa002203.13640054
6* Complement and coagulation cascades_Homo sapiens_hsa046102.93745884
7Tryptophan metabolism_Homo sapiens_hsa003802.73364774
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.61708262
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58408070
10Fatty acid degradation_Homo sapiens_hsa000712.41548730
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.40890245
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.33655966
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.10769541
14Peroxisome_Homo sapiens_hsa041462.10331590
15Butanoate metabolism_Homo sapiens_hsa006502.07820000
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.03736588
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.91595308
18Caffeine metabolism_Homo sapiens_hsa002321.87376962
19Histidine metabolism_Homo sapiens_hsa003401.85008970
20Chemical carcinogenesis_Homo sapiens_hsa052041.84151181
21Propanoate metabolism_Homo sapiens_hsa006401.84037866
22PPAR signaling pathway_Homo sapiens_hsa033201.81543280
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.80673031
24Staphylococcus aureus infection_Homo sapiens_hsa051501.79810850
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76582802
26Drug metabolism - other enzymes_Homo sapiens_hsa009831.72036487
27Fatty acid metabolism_Homo sapiens_hsa012121.69916282
28Retinol metabolism_Homo sapiens_hsa008301.64529824
29Selenocompound metabolism_Homo sapiens_hsa004501.63618644
30beta-Alanine metabolism_Homo sapiens_hsa004101.62300002
31Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.59126718
32Phenylalanine metabolism_Homo sapiens_hsa003601.58191589
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53672081
34Tyrosine metabolism_Homo sapiens_hsa003501.49436988
35Bile secretion_Homo sapiens_hsa049761.46910014
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.46820219
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43342220
38Sulfur metabolism_Homo sapiens_hsa009201.42701864
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.34613186
40Maturity onset diabetes of the young_Homo sapiens_hsa049501.31200156
41Pyruvate metabolism_Homo sapiens_hsa006201.30442522
42Starch and sucrose metabolism_Homo sapiens_hsa005001.27669541
43Folate biosynthesis_Homo sapiens_hsa007901.27383158
44Fatty acid elongation_Homo sapiens_hsa000621.23201314
45ABC transporters_Homo sapiens_hsa020101.22227756
46Steroid biosynthesis_Homo sapiens_hsa001001.20116013
47Biosynthesis of amino acids_Homo sapiens_hsa012301.19973255
48Vitamin B6 metabolism_Homo sapiens_hsa007501.15595772
49Fat digestion and absorption_Homo sapiens_hsa049751.15265922
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09447981
51Carbon metabolism_Homo sapiens_hsa012001.09355466
52Sulfur relay system_Homo sapiens_hsa041220.95448803
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93384825
54Arginine and proline metabolism_Homo sapiens_hsa003300.91177178
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.86983957
56Cyanoamino acid metabolism_Homo sapiens_hsa004600.85512708
57Vitamin digestion and absorption_Homo sapiens_hsa049770.81780263
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78949322
59Lysine degradation_Homo sapiens_hsa003100.77267444
60One carbon pool by folate_Homo sapiens_hsa006700.74491035
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67591838
62Glutathione metabolism_Homo sapiens_hsa004800.65757218
63Glycerolipid metabolism_Homo sapiens_hsa005610.60125364
64Pentose phosphate pathway_Homo sapiens_hsa000300.56583781
65Fatty acid biosynthesis_Homo sapiens_hsa000610.47105189
66Metabolic pathways_Homo sapiens_hsa011000.46305030
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45593027
68Pertussis_Homo sapiens_hsa051330.45340439
69* Prion diseases_Homo sapiens_hsa050200.45253418
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.41931633
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25782652
72Galactose metabolism_Homo sapiens_hsa000520.24640006
73Linoleic acid metabolism_Homo sapiens_hsa005910.24402328
74Insulin resistance_Homo sapiens_hsa049310.24330556
75Fructose and mannose metabolism_Homo sapiens_hsa000510.23643013
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20829765
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.17259401
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16731988
79Glucagon signaling pathway_Homo sapiens_hsa049220.15225629
80AMPK signaling pathway_Homo sapiens_hsa041520.01824166
81Other glycan degradation_Homo sapiens_hsa005110.00349849
82N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2654688
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2428542
84Sphingolipid metabolism_Homo sapiens_hsa00600-0.2337722
85Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2226982
86Ether lipid metabolism_Homo sapiens_hsa00565-0.2185504
87Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2161350
88Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2083112
89Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2067326
90Bladder cancer_Homo sapiens_hsa05219-0.2001003
91Circadian rhythm_Homo sapiens_hsa04710-0.1960083
92Renin-angiotensin system_Homo sapiens_hsa04614-0.1723590
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1714617
94African trypanosomiasis_Homo sapiens_hsa05143-0.1711890
95Hepatitis C_Homo sapiens_hsa05160-0.1584715
96Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1571903
97Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1548665
98Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1395428
99* Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1230637
100Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0910241
101Insulin signaling pathway_Homo sapiens_hsa04910-0.0864191
102Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0657551
103* Amoebiasis_Homo sapiens_hsa05146-0.0556329
104Regulation of autophagy_Homo sapiens_hsa04140-0.0555777
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0497454
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0318642
107Mineral absorption_Homo sapiens_hsa04978-0.0315659
108Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0254065
109Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0176497
110Serotonergic synapse_Homo sapiens_hsa04726-0.0157274

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