C4BPB

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 member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1drug catabolic process (GO:0042737)6.92373655
2L-phenylalanine catabolic process (GO:0006559)6.74133773
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.74133773
4* regulation of protein activation cascade (GO:2000257)6.58386482
5exogenous drug catabolic process (GO:0042738)6.47809734
6glyoxylate metabolic process (GO:0046487)6.39356139
7complement activation, alternative pathway (GO:0006957)6.23104863
8* regulation of complement activation (GO:0030449)6.21768111
9regulation of fibrinolysis (GO:0051917)6.08464460
10L-phenylalanine metabolic process (GO:0006558)6.03627771
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.03627771
12aromatic amino acid family catabolic process (GO:0009074)5.97479189
13epoxygenase P450 pathway (GO:0019373)5.89323695
14negative regulation of fibrinolysis (GO:0051918)5.70766611
15oxidative demethylation (GO:0070989)5.47998796
16omega-hydroxylase P450 pathway (GO:0097267)5.44965152
17urea metabolic process (GO:0019627)5.29958972
18indole-containing compound catabolic process (GO:0042436)5.29341781
19indolalkylamine catabolic process (GO:0046218)5.29341781
20tryptophan catabolic process (GO:0006569)5.29341781
21peptidyl-glutamic acid carboxylation (GO:0017187)5.08571843
22protein carboxylation (GO:0018214)5.08571843
23cellular ketone body metabolic process (GO:0046950)5.01401570
24blood coagulation, intrinsic pathway (GO:0007597)4.84717075
25nitrogen cycle metabolic process (GO:0071941)4.75932946
26drug metabolic process (GO:0017144)4.75825459
27* negative regulation of protein activation cascade (GO:2000258)4.72432798
28urea cycle (GO:0000050)4.71837626
29regulation of triglyceride catabolic process (GO:0010896)4.71610677
30serine family amino acid catabolic process (GO:0009071)4.69958404
31bile acid biosynthetic process (GO:0006699)4.69530351
32triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.57192717
33cellular glucuronidation (GO:0052695)4.54557163
34aromatic amino acid family metabolic process (GO:0009072)4.49791980
35ketone body metabolic process (GO:1902224)4.44106987
36flavonoid metabolic process (GO:0009812)4.42668607
37tryptophan metabolic process (GO:0006568)4.42516649
38high-density lipoprotein particle remodeling (GO:0034375)4.30305708
39kynurenine metabolic process (GO:0070189)4.30104951
40fibrinolysis (GO:0042730)4.27793109
41phenylpropanoid metabolic process (GO:0009698)4.27568661
42uronic acid metabolic process (GO:0006063)4.27547748
43glucuronate metabolic process (GO:0019585)4.27547748
44tyrosine metabolic process (GO:0006570)4.27329190
45bile acid metabolic process (GO:0008206)4.24103300
46S-adenosylmethionine metabolic process (GO:0046500)4.23790134
47plasma lipoprotein particle remodeling (GO:0034369)4.21383468
48protein-lipid complex remodeling (GO:0034368)4.21383468
49macromolecular complex remodeling (GO:0034367)4.21383468
50indolalkylamine metabolic process (GO:0006586)4.18872049
51ethanol oxidation (GO:0006069)4.11386810
52triglyceride homeostasis (GO:0070328)4.10706791
53acylglycerol homeostasis (GO:0055090)4.10706791
54imidazole-containing compound metabolic process (GO:0052803)4.10672229
55* negative regulation of complement activation (GO:0045916)4.08357082
56negative regulation of cholesterol transport (GO:0032375)4.03366642
57negative regulation of sterol transport (GO:0032372)4.03366642
58* protein activation cascade (GO:0072376)4.01016074
59intestinal cholesterol absorption (GO:0030299)4.00361961
60glycine metabolic process (GO:0006544)3.99426839
61alkaloid metabolic process (GO:0009820)3.96976342
62reverse cholesterol transport (GO:0043691)3.93510150
63arginine metabolic process (GO:0006525)3.85699379
64bile acid and bile salt transport (GO:0015721)3.83691977
65alpha-amino acid catabolic process (GO:1901606)3.81508555
66regulation of plasminogen activation (GO:0010755)3.81226299
67cholesterol efflux (GO:0033344)3.78479626
68* regulation of humoral immune response (GO:0002920)3.64466012
69heme transport (GO:0015886)3.64014397
70acute-phase response (GO:0006953)3.59546866
71* complement activation, classical pathway (GO:0006958)3.59091073
72* complement activation (GO:0006956)3.56118539
73amino-acid betaine metabolic process (GO:0006577)3.53815450
74drug transmembrane transport (GO:0006855)3.50002297
75amine catabolic process (GO:0009310)3.46069149
76cellular biogenic amine catabolic process (GO:0042402)3.46069149
77cytolysis (GO:0019835)3.44692475
78benzene-containing compound metabolic process (GO:0042537)3.43233870
79negative regulation of hemostasis (GO:1900047)3.41441405
80negative regulation of blood coagulation (GO:0030195)3.41441405
81cellular amino acid catabolic process (GO:0009063)3.38404039
82serine family amino acid metabolic process (GO:0009069)3.38018248
83negative regulation of lipase activity (GO:0060192)3.35915352
84L-methionine salvage (GO:0071267)3.33874699
85L-methionine biosynthetic process (GO:0071265)3.33874699
86amino acid salvage (GO:0043102)3.33874699
87cysteine metabolic process (GO:0006534)3.31146783
88positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.28993848
89very-low-density lipoprotein particle assembly (GO:0034379)3.26159967
90regulation of cholesterol esterification (GO:0010872)3.26030699
91ethanol metabolic process (GO:0006067)3.25394953
92xenobiotic catabolic process (GO:0042178)3.24412826
93sodium-independent organic anion transport (GO:0043252)3.21532770
94phospholipid efflux (GO:0033700)3.19640138
95plasma lipoprotein particle organization (GO:0071827)3.14485998
96homocysteine metabolic process (GO:0050667)3.10663140
97peptidyl-glutamic acid modification (GO:0018200)3.09253278
98negative regulation of coagulation (GO:0050819)3.08252767
99regulation of lipoprotein particle clearance (GO:0010984)3.07631465
100low-density lipoprotein particle remodeling (GO:0034374)3.05602725

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.57770073
2EGR1_23403033_ChIP-Seq_LIVER_Mouse4.35435813
3LXR_22158963_ChIP-Seq_LIVER_Mouse2.84773225
4RXR_22158963_ChIP-Seq_LIVER_Mouse2.81935123
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.80330369
6GBX2_23144817_ChIP-Seq_PC3_Human2.78570981
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.73272326
8IGF1R_20145208_ChIP-Seq_DFB_Human2.57047861
9PPARA_22158963_ChIP-Seq_LIVER_Mouse2.47322460
10ZNF274_21170338_ChIP-Seq_K562_Hela2.44528192
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40023575
12VDR_22108803_ChIP-Seq_LS180_Human2.37372320
13GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.32347049
14CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.28962750
15NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.25090387
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.22275729
17FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.97574936
18TAF15_26573619_Chip-Seq_HEK293_Human1.92271884
19CTBP2_25329375_ChIP-Seq_LNCAP_Human1.90358809
20FLI1_27457419_Chip-Seq_LIVER_Mouse1.90013220
21ER_23166858_ChIP-Seq_MCF-7_Human1.88138575
22AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.86807113
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.75888718
24STAT3_23295773_ChIP-Seq_U87_Human1.75406465
25NFE2_27457419_Chip-Seq_LIVER_Mouse1.68954035
26PIAS1_25552417_ChIP-Seq_VCAP_Human1.68478145
27P300_19829295_ChIP-Seq_ESCs_Human1.67816097
28SUZ12_27294783_Chip-Seq_NPCs_Mouse1.66456572
29CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.66073730
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.65510266
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62972178
32BCAT_22108803_ChIP-Seq_LS180_Human1.62890227
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62222771
34PCGF2_27294783_Chip-Seq_NPCs_Mouse1.59735564
35SALL1_21062744_ChIP-ChIP_HESCs_Human1.59230364
36* FOXA2_19822575_ChIP-Seq_HepG2_Human1.58061644
37EZH2_27294783_Chip-Seq_NPCs_Mouse1.57424045
38* HNF4A_19822575_ChIP-Seq_HepG2_Human1.57130148
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.56590991
40ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.53875409
41BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.52942080
42FUS_26573619_Chip-Seq_HEK293_Human1.52075335
43UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48800683
44TCF4_23295773_ChIP-Seq_U87_Human1.47472267
45SMAD4_21799915_ChIP-Seq_A2780_Human1.46921495
46FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.38970805
47CBP_20019798_ChIP-Seq_JUKART_Human1.38884756
48IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.38884756
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37406194
50TCF4_22108803_ChIP-Seq_LS180_Human1.36816615
51CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.36652299
52EWS_26573619_Chip-Seq_HEK293_Human1.32139301
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.32107533
54NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28714913
55CRX_20693478_ChIP-Seq_RETINA_Mouse1.28123742
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27936079
57SOX2_19829295_ChIP-Seq_ESCs_Human1.27633385
58NANOG_19829295_ChIP-Seq_ESCs_Human1.27633385
59KLF5_20875108_ChIP-Seq_MESCs_Mouse1.25995660
60AR_20517297_ChIP-Seq_VCAP_Human1.23022708
61TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.22298504
62CDX2_22108803_ChIP-Seq_LS180_Human1.21031193
63* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.20990072
64AR_25329375_ChIP-Seq_VCAP_Human1.20930434
65EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20665936
66RUNX2_22187159_ChIP-Seq_PCA_Human1.16932028
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16722941
68SMAD4_21741376_ChIP-Seq_EPCs_Human1.15885180
69TP53_16413492_ChIP-PET_HCT116_Human1.15126801
70IRF1_19129219_ChIP-ChIP_H3396_Human1.14653609
71OCT4_21477851_ChIP-Seq_ESCs_Mouse1.14561812
72SMAD3_21741376_ChIP-Seq_EPCs_Human1.14373049
73HTT_18923047_ChIP-ChIP_STHdh_Human1.13890672
74SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.13745022
75AR_21572438_ChIP-Seq_LNCaP_Human1.12596796
76AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.12483480
77EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12127435
78NANOG_18555785_Chip-Seq_ESCs_Mouse1.11836412
79EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.10794686
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09165897
81STAT3_18555785_Chip-Seq_ESCs_Mouse1.09156565
82FOXA1_25329375_ChIP-Seq_VCAP_Human1.08193230
83FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08193230
84TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.06977929
85E2F1_18555785_Chip-Seq_ESCs_Mouse1.05938016
86FOXA1_21572438_ChIP-Seq_LNCaP_Human1.05700531
87ETV1_20927104_ChIP-Seq_GIST48_Human1.05678800
88RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05534253
89P53_22387025_ChIP-Seq_ESCs_Mouse1.05436663
90TP53_22573176_ChIP-Seq_HFKS_Human1.04802770
91PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04322352
92AHR_22903824_ChIP-Seq_MCF-7_Human1.03516279
93TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03369074
94PHF8_20622853_ChIP-Seq_HELA_Human1.03219096
95OCT4_18555785_Chip-Seq_ESCs_Mouse1.02409420
96* TCF4_18268006_ChIP-ChIP_LS174T_Human1.01619967
97P300_18555785_Chip-Seq_ESCs_Mouse1.01447549
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99934297
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99436697
100ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98367074

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.68677618
2MP0003195_calcinosis6.24632217
3MP0005085_abnormal_gallbladder_physiolo5.98532610
4MP0005360_urolithiasis5.07466241
5MP0008875_abnormal_xenobiotic_pharmacok4.99365602
6MP0005365_abnormal_bile_salt4.85698659
7MP0002138_abnormal_hepatobiliary_system3.78872650
8MP0003252_abnormal_bile_duct3.67672007
9MP0003868_abnormal_feces_composition2.93766889
10MP0010329_abnormal_lipoprotein_level2.88791419
11MP0002876_abnormal_thyroid_physiology2.77743832
12MP0001666_abnormal_nutrient_absorption2.72825780
13MP0009697_abnormal_copulation2.54295590
14MP0005332_abnormal_amino_acid2.36823272
15MP0001764_abnormal_homeostasis1.97260697
16MP0005083_abnormal_biliary_tract1.77506149
17MP0005551_abnormal_eye_electrophysiolog1.75952635
18MP0000569_abnormal_digit_pigmentation1.75710200
19MP0002118_abnormal_lipid_homeostasis1.55424385
20MP0000609_abnormal_liver_physiology1.50425553
21MP0008872_abnormal_physiological_respon1.40627123
22MP0005408_hypopigmentation1.30691873
23MP0003950_abnormal_plasma_membrane1.29556305
24MP0005670_abnormal_white_adipose1.28863466
25MP0003806_abnormal_nucleotide_metabolis1.25699380
26MP0003646_muscle_fatigue1.22811989
27MP0008057_abnormal_DNA_replication1.22683282
28MP0005645_abnormal_hypothalamus_physiol1.20070146
29MP0005395_other_phenotype1.14107794
30MP0004043_abnormal_pH_regulation1.13144778
31MP0001661_extended_life_span1.12260412
32MP0001501_abnormal_sleep_pattern1.10704559
33MP0004019_abnormal_vitamin_homeostasis1.10168749
34MP0002168_other_aberrant_phenotype1.07206514
35MP0005319_abnormal_enzyme/_coenzyme1.04343490
36MP0003718_maternal_effect1.04119421
37MP0005646_abnormal_pituitary_gland1.01890431
38MP0003879_abnormal_hair_cell1.01806734
39MP0009643_abnormal_urine_homeostasis0.96962462
40MP0005167_abnormal_blood-brain_barrier0.95251190
41MP0005266_abnormal_metabolism0.91516278
42MP0009840_abnormal_foam_cell0.91143717
43MP0005376_homeostasis/metabolism_phenot0.90611663
44MP0000598_abnormal_liver_morphology0.89745375
45MP0005410_abnormal_fertilization0.89272997
46MP0009046_muscle_twitch0.88109552
47MP0005584_abnormal_enzyme/coenzyme_acti0.86078795
48MP0009642_abnormal_blood_homeostasis0.82712482
49MP0000427_abnormal_hair_cycle0.82515615
50MP0005636_abnormal_mineral_homeostasis0.79429422
51MP0005253_abnormal_eye_physiology0.78756010
52MP0002928_abnormal_bile_duct0.78294132
53MP0003656_abnormal_erythrocyte_physiolo0.77577222
54MP0010368_abnormal_lymphatic_system0.76532045
55MP0004142_abnormal_muscle_tone0.76261287
56MP0001986_abnormal_taste_sensitivity0.75470998
57MP0002078_abnormal_glucose_homeostasis0.75468133
58MP0002971_abnormal_brown_adipose0.74938327
59MP0004147_increased_porphyrin_level0.74438261
60MP0002938_white_spotting0.74371606
61MP0005220_abnormal_exocrine_pancreas0.72111872
62MP0005448_abnormal_energy_balance0.71260264
63MP0009764_decreased_sensitivity_to0.71104269
64MP0005187_abnormal_penis_morphology0.69687296
65MP0005647_abnormal_sex_gland0.69394251
66MP0001968_abnormal_touch/_nociception0.65415708
67MP0002837_dystrophic_cardiac_calcinosis0.65088982
68MP0009745_abnormal_behavioral_response0.63682803
69MP0006292_abnormal_olfactory_placode0.63032749
70MP0002102_abnormal_ear_morphology0.62926616
71MP0003953_abnormal_hormone_level0.62288438
72MP0010386_abnormal_urinary_bladder0.61910885
73MP0000371_diluted_coat_color0.60593075
74MP0002132_abnormal_respiratory_system0.60381963
75MP0008775_abnormal_heart_ventricle0.60364752
76MP0005334_abnormal_fat_pad0.58090856
77MP0001324_abnormal_eye_pigmentation0.56923594
78MP0000372_irregular_coat_pigmentation0.56042601
79MP0003122_maternal_imprinting0.55657995
80MP0000383_abnormal_hair_follicle0.54861656
81MP0003011_delayed_dark_adaptation0.54549768
82MP0004130_abnormal_muscle_cell0.54467300
83MP0003186_abnormal_redox_activity0.54387497
84MP0005195_abnormal_posterior_eye0.52910233
85MP0003638_abnormal_response/metabolism_0.51530880
86MP0005084_abnormal_gallbladder_morpholo0.50799681
87MP0001756_abnormal_urination0.50365443
88MP0003698_abnormal_male_reproductive0.50156977
89MP0002160_abnormal_reproductive_system0.49444052
90MP0002736_abnormal_nociception_after0.49128152
91MP0002090_abnormal_vision0.49120223
92MP0009115_abnormal_fat_cell0.48921885
93MP0008058_abnormal_DNA_repair0.47953526
94MP0003633_abnormal_nervous_system0.47668071
95MP0006054_spinal_hemorrhage0.46991338
96MP0000013_abnormal_adipose_tissue0.46592863
97MP0003045_fibrosis0.46053107
98MP0005386_behavior/neurological_phenoty0.45070099
99MP0004924_abnormal_behavior0.45070099
100MP0002638_abnormal_pupillary_reflex0.44957845

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)7.48129942
2Deep venous thrombosis (HP:0002625)7.08890820
3Hypobetalipoproteinemia (HP:0003563)6.69120985
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.56808324
5Complement deficiency (HP:0004431)6.19356379
6Abnormality of aromatic amino acid family metabolism (HP:0004338)5.88472035
7Conjugated hyperbilirubinemia (HP:0002908)4.59072370
8Joint hemorrhage (HP:0005261)4.58847977
9Abnormality of complement system (HP:0005339)4.45708479
10Fair hair (HP:0002286)4.17011322
11Abnormality of glutamine family amino acid metabolism (HP:0010902)3.99531755
12Abnormality of pyrimidine metabolism (HP:0004353)3.96133581
13Hyperlipoproteinemia (HP:0010980)3.85114214
14Abnormality of the common coagulation pathway (HP:0010990)3.66447596
15Glomerulonephritis (HP:0000099)3.62024109
16Hypolipoproteinemia (HP:0010981)3.61059221
17Intrahepatic cholestasis (HP:0001406)3.58669356
18Spontaneous abortion (HP:0005268)3.54446632
19Xanthomatosis (HP:0000991)3.47880643
20Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.27624949
21Abnormality of alanine metabolism (HP:0010916)3.27624949
22Hyperalaninemia (HP:0003348)3.27624949
23Abnormality of the intrinsic pathway (HP:0010989)3.14953642
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.10478792
25Systemic lupus erythematosus (HP:0002725)3.04033837
26Hyperventilation (HP:0002883)3.02966740
27Generalized hypopigmentation of hair (HP:0011358)3.00485940
28Hyperglycinemia (HP:0002154)2.95905558
29Epidermoid cyst (HP:0200040)2.94620728
30Cerebellar dysplasia (HP:0007033)2.87996116
31Abnormality of serum amino acid levels (HP:0003112)2.79787147
32Hyperammonemia (HP:0001987)2.76884513
33Ketosis (HP:0001946)2.76319657
34Abnormality of glycine metabolism (HP:0010895)2.71233782
35Abnormality of serine family amino acid metabolism (HP:0010894)2.71233782
36Hyperglycinuria (HP:0003108)2.70029892
37Alkalosis (HP:0001948)2.64173615
38Abnormality of the renal cortex (HP:0011035)2.58711390
39Bile duct proliferation (HP:0001408)2.58345193
40Abnormal biliary tract physiology (HP:0012439)2.58345193
41Generalized aminoaciduria (HP:0002909)2.57374135
42Retinal atrophy (HP:0001105)2.56714635
43Reduced antithrombin III activity (HP:0001976)2.56624420
44Nephritis (HP:0000123)2.54772219
45Ketoacidosis (HP:0001993)2.51514963
46Arthropathy (HP:0003040)2.51471378
47Vascular calcification (HP:0004934)2.47088500
48Abnormality of methionine metabolism (HP:0010901)2.46845193
49Pancreatic cysts (HP:0001737)2.46279918
50Renal cortical cysts (HP:0000803)2.42785452
51Submucous cleft hard palate (HP:0000176)2.42424614
52Enlarged kidneys (HP:0000105)2.39854001
53Chronic hepatic failure (HP:0100626)2.22661355
54Hypothermia (HP:0002045)2.19977410
55Fat malabsorption (HP:0002630)2.19884143
56Attenuation of retinal blood vessels (HP:0007843)2.19358667
57Gaze-evoked nystagmus (HP:0000640)2.17644206
58Hypoalphalipoproteinemia (HP:0003233)2.17079209
59Blue irides (HP:0000635)2.13512655
60Abnormality of the nasal septum (HP:0000419)2.13476121
61Delayed CNS myelination (HP:0002188)2.10791886
62Congenital stationary night blindness (HP:0007642)2.10401140
63Abnormality of aspartate family amino acid metabolism (HP:0010899)2.06701013
64Metabolic acidosis (HP:0001942)2.06313353
65Abnormality of proline metabolism (HP:0010907)2.05180038
66Hydroxyprolinuria (HP:0003080)2.05180038
67Cardiovascular calcification (HP:0011915)2.04906499
68Gingival bleeding (HP:0000225)2.03059184
69Recurrent gram-negative bacterial infections (HP:0005420)2.01849963
70Menorrhagia (HP:0000132)2.01454641
71Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.98132872
72Proximal tubulopathy (HP:0000114)1.97610329
73True hermaphroditism (HP:0010459)1.96849757
74Pancreatic fibrosis (HP:0100732)1.96168170
75Genetic anticipation (HP:0003743)1.92747547
76Aplasia/Hypoplasia of the tibia (HP:0005772)1.90728714
77Mitral stenosis (HP:0001718)1.89740343
78Type II lissencephaly (HP:0007260)1.88094022
79Lethargy (HP:0001254)1.88058625
80Abnormality of sulfur amino acid metabolism (HP:0004339)1.87774166
81Hypercholesterolemia (HP:0003124)1.87366237
82Abnormality of nucleobase metabolism (HP:0010932)1.85591703
83Cerebral edema (HP:0002181)1.82829250
84Facial shape deformation (HP:0011334)1.82648621
85Potter facies (HP:0002009)1.82648621
86Hepatocellular carcinoma (HP:0001402)1.77882943
87Abolished electroretinogram (ERG) (HP:0000550)1.76725337
88Increased neuronal autofluorescent lipopigment (HP:0002074)1.75492039
89Decreased central vision (HP:0007663)1.71953718
90Molar tooth sign on MRI (HP:0002419)1.71057219
91Abnormality of midbrain morphology (HP:0002418)1.71057219
92Glycosuria (HP:0003076)1.68860310
93Abnormality of urine glucose concentration (HP:0011016)1.68860310
94Opisthotonus (HP:0002179)1.68439420
95Osteomalacia (HP:0002749)1.68215848
96Increased corneal curvature (HP:0100692)1.66185681
97Keratoconus (HP:0000563)1.66185681
98Inability to walk (HP:0002540)1.65646525
99Tubular atrophy (HP:0000092)1.64082891
100Cystic liver disease (HP:0006706)1.61822542

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.48694769
2PDK24.54923711
3ACVR1B3.42492624
4WNK42.96491242
5BMPR1B2.79337371
6STK392.43564103
7ADRBK22.36373800
8INSRR2.33803309
9MAP4K22.20828218
10ZAK2.08364044
11OXSR12.05422206
12AKT31.93950789
13PIK3CG1.81947358
14WNK31.63253034
15TAOK31.62933699
16STK38L1.44373576
17MST1R1.43148922
18GRK11.43048299
19BRSK21.32256101
20NUAK11.27237605
21TLK11.21278836
22PRKAA21.21176301
23MAPK131.17746464
24LATS11.17695910
25CAMKK21.13781327
26PINK11.12902276
27PIK3CA1.12327360
28CASK1.04571759
29FER1.03092171
30PBK1.01374783
31ADRBK10.95547657
32MAPKAPK30.94952587
33MAP3K40.91876766
34PRKCG0.90377009
35NTRK30.89925743
36FGFR30.89884624
37MAPK110.88920598
38MAP2K60.82377370
39PRKCE0.79539633
40MKNK20.78199002
41MET0.76977723
42NEK60.76544807
43EIF2AK30.75438151
44PRKAA10.70285284
45NEK10.70164634
46NLK0.70028097
47TXK0.61024311
48STK30.60043122
49MAP3K70.59541261
50PRKACG0.59502987
51EPHA30.57535207
52CSNK1G10.56203124
53PAK30.55674991
54MAPKAPK50.55509347
55ERBB30.54259361
56FGFR20.53740906
57BCKDK0.52480016
58DAPK20.52227720
59IRAK10.52041636
60BCR0.51153537
61PRKACA0.50950853
62ERBB20.49982734
63CSNK1A1L0.49928327
64CSNK1D0.49267769
65PDK10.46713931
66PRKACB0.45433943
67MUSK0.43037034
68TEC0.43034031
69SIK20.42922175
70MKNK10.41649097
71TGFBR10.40883380
72MARK10.40648447
73FGFR40.40377668
74STK380.39882621
75IGF1R0.39736223
76MAP2K10.39632165
77NEK20.38954572
78SGK20.36450698
79PRKCA0.35549721
80TNK20.35367052
81CAMK1G0.34584562
82STK110.34292679
83FLT30.34096100
84SGK10.33869028
85IKBKB0.33794462
86CAMK1D0.33207725
87BRD40.33127231
88PRKG10.32631715
89TRIM280.32127315
90PDPK10.31703594
91OBSCN0.31600039
92EPHA40.31349649
93NME10.30864244
94MELK0.30753469
95ATR0.30221169
96CSNK1E0.30191940
97CHUK0.30031867
98CAMK2A0.30013001
99PRKCB0.29807069
100MAP2K70.29704124

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046103.67828820
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.60717927
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.20479202
4Caffeine metabolism_Homo sapiens_hsa002323.14639578
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.12534078
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.11792588
7Retinol metabolism_Homo sapiens_hsa008302.93929927
8Arginine biosynthesis_Homo sapiens_hsa002202.67577333
9Butanoate metabolism_Homo sapiens_hsa006502.64585296
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.63978689
11Chemical carcinogenesis_Homo sapiens_hsa052042.62436001
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.53127138
13Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.48115948
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.30365549
15Tryptophan metabolism_Homo sapiens_hsa003802.25621366
16Fatty acid degradation_Homo sapiens_hsa000712.24754908
17Linoleic acid metabolism_Homo sapiens_hsa005912.12209497
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.04633877
19Histidine metabolism_Homo sapiens_hsa003401.99217061
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.98745010
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.91347066
22Drug metabolism - other enzymes_Homo sapiens_hsa009831.87537738
23Phenylalanine metabolism_Homo sapiens_hsa003601.86163249
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.79816518
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.77190938
26Tyrosine metabolism_Homo sapiens_hsa003501.71521014
27ABC transporters_Homo sapiens_hsa020101.64771118
28Bile secretion_Homo sapiens_hsa049761.57374203
29Peroxisome_Homo sapiens_hsa041461.52319451
30Nitrogen metabolism_Homo sapiens_hsa009101.48384704
31Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.44037471
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.42312491
33Propanoate metabolism_Homo sapiens_hsa006401.41939924
34beta-Alanine metabolism_Homo sapiens_hsa004101.33050496
35Cysteine and methionine metabolism_Homo sapiens_hsa002701.30119904
36PPAR signaling pathway_Homo sapiens_hsa033201.29205183
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.29107830
38Starch and sucrose metabolism_Homo sapiens_hsa005001.27876657
39Maturity onset diabetes of the young_Homo sapiens_hsa049501.19573477
40Fat digestion and absorption_Homo sapiens_hsa049751.14061239
41One carbon pool by folate_Homo sapiens_hsa006701.12074684
42Arachidonic acid metabolism_Homo sapiens_hsa005901.09799893
43Cyanoamino acid metabolism_Homo sapiens_hsa004601.07552294
44Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.04195236
45Fatty acid metabolism_Homo sapiens_hsa012121.02287104
46alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.95237170
47Pyruvate metabolism_Homo sapiens_hsa006200.94831730
48Arginine and proline metabolism_Homo sapiens_hsa003300.90943000
49Selenocompound metabolism_Homo sapiens_hsa004500.90136863
50Vitamin B6 metabolism_Homo sapiens_hsa007500.88899707
51Staphylococcus aureus infection_Homo sapiens_hsa051500.88318129
52Biosynthesis of amino acids_Homo sapiens_hsa012300.78812987
53Fatty acid biosynthesis_Homo sapiens_hsa000610.78613791
54Lysine degradation_Homo sapiens_hsa003100.75819197
55Sulfur metabolism_Homo sapiens_hsa009200.73426870
56Glycerolipid metabolism_Homo sapiens_hsa005610.69461752
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.68211068
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.59812753
59Metabolic pathways_Homo sapiens_hsa011000.58832956
60Vitamin digestion and absorption_Homo sapiens_hsa049770.54945473
61Sulfur relay system_Homo sapiens_hsa041220.54777889
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.50404890
63Phototransduction_Homo sapiens_hsa047440.50035042
64Ether lipid metabolism_Homo sapiens_hsa005650.45252382
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42371694
66Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40848449
67Carbon metabolism_Homo sapiens_hsa012000.40778440
68Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.38327597
69Steroid biosynthesis_Homo sapiens_hsa001000.37417571
70Ovarian steroidogenesis_Homo sapiens_hsa049130.35223515
71Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33105187
72Homologous recombination_Homo sapiens_hsa034400.28904005
73Circadian rhythm_Homo sapiens_hsa047100.27725320
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.27550209
75Mineral absorption_Homo sapiens_hsa049780.27494628
76Serotonergic synapse_Homo sapiens_hsa047260.27368411
77Glycosaminoglycan degradation_Homo sapiens_hsa005310.23019896
78Insulin resistance_Homo sapiens_hsa049310.22936097
79Glucagon signaling pathway_Homo sapiens_hsa049220.22660414
802-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.22414172
81Fanconi anemia pathway_Homo sapiens_hsa034600.21950641
82Nicotine addiction_Homo sapiens_hsa050330.18644319
83Prion diseases_Homo sapiens_hsa050200.18539801
84Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.15883581
85Taste transduction_Homo sapiens_hsa047420.15612896
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.13755545
87Morphine addiction_Homo sapiens_hsa050320.12768138
88Sphingolipid metabolism_Homo sapiens_hsa006000.11298382
89Non-homologous end-joining_Homo sapiens_hsa034500.10034337
90Fatty acid elongation_Homo sapiens_hsa000620.09934493
91Glutathione metabolism_Homo sapiens_hsa004800.09412360
92N-Glycan biosynthesis_Homo sapiens_hsa005100.09205360
93Glycerophospholipid metabolism_Homo sapiens_hsa005640.07995868
94Renin-angiotensin system_Homo sapiens_hsa046140.07111443
95GABAergic synapse_Homo sapiens_hsa047270.06264424
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.06043508
97Systemic lupus erythematosus_Homo sapiens_hsa053220.05618582
98Purine metabolism_Homo sapiens_hsa002300.03970835
99Olfactory transduction_Homo sapiens_hsa047400.03491390
100Thyroid hormone synthesis_Homo sapiens_hsa049180.02616177

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