C4B_2

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 the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of protein activation cascade (GO:2000257)8.39925376
2regulation of complement activation (GO:0030449)8.20224455
3negative regulation of fibrinolysis (GO:0051918)8.12551243
4regulation of fibrinolysis (GO:0051917)7.77649226
5complement activation, alternative pathway (GO:0006957)7.59778116
6exogenous drug catabolic process (GO:0042738)7.27423925
7L-phenylalanine catabolic process (GO:0006559)7.14993845
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.14993845
9peptidyl-glutamic acid carboxylation (GO:0017187)6.88398862
10protein carboxylation (GO:0018214)6.88398862
11L-phenylalanine metabolic process (GO:0006558)6.64013504
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.64013504
13epoxygenase P450 pathway (GO:0019373)6.53141873
14regulation of apoptotic cell clearance (GO:2000425)6.42769178
15drug catabolic process (GO:0042737)6.36542004
16omega-hydroxylase P450 pathway (GO:0097267)6.20989244
17blood coagulation, intrinsic pathway (GO:0007597)5.97557634
18triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.73546415
19very-low-density lipoprotein particle assembly (GO:0034379)5.56239251
20intestinal cholesterol absorption (GO:0030299)5.54528615
21regulation of plasminogen activation (GO:0010755)5.43064206
22plasma lipoprotein particle remodeling (GO:0034369)5.34392768
23protein-lipid complex remodeling (GO:0034368)5.34392768
24macromolecular complex remodeling (GO:0034367)5.34392768
25complement activation, classical pathway (GO:0006958)5.34247405
26protein activation cascade (GO:0072376)5.21825648
27negative regulation of protein activation cascade (GO:2000258)5.20372551
28plasma lipoprotein particle assembly (GO:0034377)5.12332631
29fibrinolysis (GO:0042730)5.09903219
30low-density lipoprotein particle remodeling (GO:0034374)5.06266963
31cholesterol efflux (GO:0033344)4.97282938
32regulation of humoral immune response (GO:0002920)4.90119305
33negative regulation of sterol transport (GO:0032372)4.85222613
34negative regulation of cholesterol transport (GO:0032375)4.85222613
35complement activation (GO:0006956)4.81137697
36regulation of cholesterol esterification (GO:0010872)4.80173656
37high-density lipoprotein particle remodeling (GO:0034375)4.63502192
38urea metabolic process (GO:0019627)4.62516422
39plasma lipoprotein particle organization (GO:0071827)4.62365050
40acute-phase response (GO:0006953)4.62314552
41aromatic amino acid family catabolic process (GO:0009074)4.61350225
42opsonization (GO:0008228)4.60365781
43protein-lipid complex assembly (GO:0065005)4.58285291
44positive regulation of lipoprotein lipase activity (GO:0051006)4.53263022
45positive regulation of triglyceride lipase activity (GO:0061365)4.53263022
46ethanol oxidation (GO:0006069)4.43318447
47protein-lipid complex subunit organization (GO:0071825)4.35913021
48reverse cholesterol transport (GO:0043691)4.32500618
49negative regulation of complement activation (GO:0045916)4.29177510
50negative regulation of hemostasis (GO:1900047)4.28302536
51negative regulation of blood coagulation (GO:0030195)4.28302536
52glutamate metabolic process (GO:0006536)4.25004686
53glyoxylate metabolic process (GO:0046487)4.17852580
54positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.16692619
55nitrogen cycle metabolic process (GO:0071941)4.15882290
56drug metabolic process (GO:0017144)4.06995264
57urea cycle (GO:0000050)4.03139147
58tyrosine metabolic process (GO:0006570)4.02365893
59positive regulation of blood coagulation (GO:0030194)3.98006863
60positive regulation of hemostasis (GO:1900048)3.98006863
61acylglycerol homeostasis (GO:0055090)3.97491358
62triglyceride homeostasis (GO:0070328)3.97491358
63bile acid metabolic process (GO:0008206)3.96891271
64bile acid biosynthetic process (GO:0006699)3.95699469
65plasma lipoprotein particle clearance (GO:0034381)3.94746356
66negative regulation of coagulation (GO:0050819)3.91399746
67cellular glucuronidation (GO:0052695)3.90475593
68phospholipid efflux (GO:0033700)3.89962353
69positive regulation of fatty acid biosynthetic process (GO:0045723)3.86929473
70cytolysis (GO:0019835)3.84290912
71regulation of cholesterol biosynthetic process (GO:0045540)3.84149103
72lipoprotein metabolic process (GO:0042157)3.83989746
73serine family amino acid catabolic process (GO:0009071)3.80488816
74regulation of cholesterol homeostasis (GO:2000188)3.74845929
75imidazole-containing compound metabolic process (GO:0052803)3.73553567
76positive regulation of extracellular matrix organization (GO:1903055)3.72145107
77negative regulation of wound healing (GO:0061045)3.70938684
78ethanol metabolic process (GO:0006067)3.66621936
79glucuronate metabolic process (GO:0019585)3.65996574
80uronic acid metabolic process (GO:0006063)3.65996574
81intestinal absorption (GO:0050892)3.64954358
82positive regulation of coagulation (GO:0050820)3.63746313
83bile acid and bile salt transport (GO:0015721)3.55835616
84killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.54946639
85disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.54946639
86proline metabolic process (GO:0006560)3.54388878
87regulation of triglyceride catabolic process (GO:0010896)3.52668108
88response to mercury ion (GO:0046689)3.48353931
89negative regulation of lipase activity (GO:0060192)3.47204670
90regulation of bile acid biosynthetic process (GO:0070857)3.41082186
91regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.37809868
92cholesterol homeostasis (GO:0042632)3.36474672
93negative regulation of humoral immune response (GO:0002921)3.35327055
94amino-acid betaine metabolic process (GO:0006577)3.34366389
95sterol homeostasis (GO:0055092)3.31705145
96acute inflammatory response (GO:0002526)3.30811724
97drug transmembrane transport (GO:0006855)3.30370915
98regulation of acute inflammatory response (GO:0002673)3.29322033
99regulation of cholesterol metabolic process (GO:0090181)3.29175698
100oxidative demethylation (GO:0070989)3.25554903

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.86275125
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.80481523
3LXR_22158963_ChIP-Seq_LIVER_Mouse4.94905572
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.91011339
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.41595628
6EGR1_23403033_ChIP-Seq_LIVER_Mouse4.22685933
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.81388425
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.79626033
9FOXA2_19822575_ChIP-Seq_HepG2_Human3.51187696
10CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.44179998
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.05991987
12HNF4A_19822575_ChIP-Seq_HepG2_Human2.58078930
13CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.57869364
14CLOCK_20551151_ChIP-Seq_293T_Human2.29070525
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.17791212
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.14894346
17ESR1_15608294_ChIP-ChIP_MCF-7_Human2.11752334
18TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.04101872
19TRIM28_21343339_ChIP-Seq_HEK293_Human1.91512260
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.91185957
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.74135093
22CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.72759875
23TP63_17297297_ChIP-ChIP_HaCaT_Human1.67034158
24ZNF263_19887448_ChIP-Seq_K562_Human1.66654884
25CDX2_20551321_ChIP-Seq_CACO-2_Human1.61200034
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.52356673
27TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50632192
28LXR_22292898_ChIP-Seq_THP-1_Human1.47375732
29ESR1_21235772_ChIP-Seq_MCF-7_Human1.45002195
30NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.41292411
31SOX2_27498859_Chip-Seq_STOMACH_Mouse1.34515985
32ESR1_20079471_ChIP-ChIP_T-47D_Human1.33883492
33HIF1A_21447827_ChIP-Seq_MCF-7_Human1.33214816
34GATA4_25053715_ChIP-Seq_YYC3_Human1.32988154
35SALL4_18804426_ChIP-ChIP_XEN_Mouse1.32087321
36FOXO3_23340844_ChIP-Seq_DLD1_Human1.26660293
37TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.22359871
38TCF4_18268006_ChIP-ChIP_LS174T_Human1.19787986
39RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15331080
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14384564
41NFIB_24661679_ChIP-Seq_LUNG_Mouse1.13091215
42GATA6_25053715_ChIP-Seq_YYC3_Human1.11355059
43EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09202917
44NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.08913644
45TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.07932655
46FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.05060590
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03941295
48CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03940999
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01673106
50ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00643106
51SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.00587432
52FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.98937479
53SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.95043705
54PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94831496
55CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.94458338
56ERG_21242973_ChIP-ChIP_JURKAT_Human0.93644293
57CDX2_19796622_ChIP-Seq_MESCs_Mouse0.92669508
58SMC4_20622854_ChIP-Seq_HELA_Human0.91035265
59SOX2_20726797_ChIP-Seq_SW620_Human0.90934063
60ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.89206984
61DNAJC2_21179169_ChIP-ChIP_NT2_Human0.88707029
62STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.88675455
63GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.86414102
64STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.86334404
65RACK7_27058665_Chip-Seq_MCF-7_Human0.85863962
66SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85515568
67IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.84981022
68RXRA_24833708_ChIP-Seq_LIVER_Mouse0.84964335
69POU5F1_16518401_ChIP-PET_MESCs_Mouse0.84524852
70PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.83645122
71DROSHA_22980978_ChIP-Seq_HELA_Human0.83486195
72STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.79485224
73PPAR_26484153_Chip-Seq_NCI-H1993_Human0.79260396
74AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77394033
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.77127013
76SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76632388
77TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75846235
78ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.75374592
79PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.74174819
80FOXA1_25552417_ChIP-Seq_VCAP_Human0.73993269
81GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.71863632
82SOX9_24532713_ChIP-Seq_HFSC_Mouse0.71160402
83ZNF217_24962896_ChIP-Seq_MCF-7_Human0.70461229
84EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.69651581
85NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.69600527
86GATA1_19941827_ChIP-Seq_MEL_Mouse0.68920734
87RARA_24833708_ChIP-Seq_LIVER_Mouse0.68540786
88RAD21_21589869_ChIP-Seq_MESCs_Mouse0.68034106
89RUNX1_27514584_Chip-Seq_MCF-7_Human0.67932230
90WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.67413740
91AR_21572438_ChIP-Seq_LNCaP_Human0.64663693
92KDM2B_26808549_Chip-Seq_K562_Human0.64164538
93TBX20_22080862_ChIP-Seq_HEART_Mouse0.61933650
94TBX20_22328084_ChIP-Seq_HEART_Mouse0.61933650
95AR_21909140_ChIP-Seq_LNCAP_Human0.61823346
96CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.61783795
97ZFP281_18757296_ChIP-ChIP_E14_Mouse0.60103323
98P63_26484246_Chip-Seq_KERATINOCYTES_Human0.60023985
99CSB_26484114_Chip-Seq_FIBROBLAST_Human0.59949854
100RARB_24833708_ChIP-Seq_LIVER_Mouse0.59421295

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.70910297
2MP0005360_urolithiasis5.89598524
3MP0005365_abnormal_bile_salt5.71497748
4MP0005085_abnormal_gallbladder_physiolo5.22740394
5MP0008875_abnormal_xenobiotic_pharmacok4.71582303
6MP0003195_calcinosis4.67801343
7MP0003252_abnormal_bile_duct3.99442830
8MP0001666_abnormal_nutrient_absorption3.70192944
9MP0010329_abnormal_lipoprotein_level3.29946290
10MP0002138_abnormal_hepatobiliary_system2.87174260
11MP0003868_abnormal_feces_composition2.71757746
12MP0003122_maternal_imprinting2.49045987
13MP0010368_abnormal_lymphatic_system2.36460245
14MP0005332_abnormal_amino_acid2.05360428
15MP0009840_abnormal_foam_cell2.00145141
16MP0000609_abnormal_liver_physiology1.91161196
17MP0005670_abnormal_white_adipose1.89710169
18MP0003191_abnormal_cellular_cholesterol1.81891675
19MP0000566_synostosis1.79630916
20MP0002118_abnormal_lipid_homeostasis1.72071512
21MP0005408_hypopigmentation1.65122085
22MP0001915_intracranial_hemorrhage1.57352227
23MP0005058_abnormal_lysosome_morphology1.56511040
24MP0002132_abnormal_respiratory_system1.50605570
25MP0002089_abnormal_postnatal_growth/wei1.41267150
26MP0003172_abnormal_lysosome_physiology1.29585757
27MP0001661_extended_life_span1.29455376
28MP0005409_darkened_coat_color1.28462448
29MP0005451_abnormal_body_composition1.24914340
30MP0009780_abnormal_chondrocyte_physiolo1.17666295
31MP0002876_abnormal_thyroid_physiology1.17591239
32MP0004272_abnormal_basement_membrane1.14450102
33MP0003123_paternal_imprinting1.11369454
34MP0000598_abnormal_liver_morphology1.09949325
35MP0003879_abnormal_hair_cell1.05413944
36MP0004019_abnormal_vitamin_homeostasis1.03574511
37MP0005257_abnormal_intraocular_pressure1.00117636
38MP0005319_abnormal_enzyme/_coenzyme0.99289523
39MP0009643_abnormal_urine_homeostasis0.93789407
40MP0000604_amyloidosis0.92734580
41MP0001764_abnormal_homeostasis0.90911251
42MP0006054_spinal_hemorrhage0.90487851
43MP0005167_abnormal_blood-brain_barrier0.90159676
44MP0005636_abnormal_mineral_homeostasis0.89506376
45MP0008438_abnormal_cutaneous_collagen0.87268365
46MP0002933_joint_inflammation0.86305747
47MP0005023_abnormal_wound_healing0.86027000
48MP0003183_abnormal_peptide_metabolism0.85724462
49MP0003690_abnormal_glial_cell0.85592816
50MP0003656_abnormal_erythrocyte_physiolo0.85342904
51MP0003329_amyloid_beta_deposits0.85088562
52MP0009642_abnormal_blood_homeostasis0.83197563
53MP0000639_abnormal_adrenal_gland0.83178813
54MP0009697_abnormal_copulation0.82200267
55MP0002971_abnormal_brown_adipose0.80611841
56MP0003566_abnormal_cell_adhesion0.79799839
57MP0005584_abnormal_enzyme/coenzyme_acti0.75998392
58MP0003950_abnormal_plasma_membrane0.72731901
59MP0004264_abnormal_extraembryonic_tissu0.71839151
60MP0000920_abnormal_myelination0.70990464
61MP0001756_abnormal_urination0.70464765
62MP0002249_abnormal_larynx_morphology0.67436978
63MP0002282_abnormal_trachea_morphology0.67218612
64MP0003806_abnormal_nucleotide_metabolis0.64533487
65MP0005164_abnormal_response_to0.64483741
66MP0002078_abnormal_glucose_homeostasis0.63895359
67MP0005464_abnormal_platelet_physiology0.61406209
68MP0008469_abnormal_protein_level0.59875181
69MP0002909_abnormal_adrenal_gland0.59614395
70MP0005220_abnormal_exocrine_pancreas0.59517705
71MP0005076_abnormal_cell_differentiation0.59490811
72MP0009763_increased_sensitivity_to0.58437477
73MP0009384_cardiac_valve_regurgitation0.57552831
74MP0002168_other_aberrant_phenotype0.56976671
75MP0004782_abnormal_surfactant_physiolog0.56008293
76MP0009115_abnormal_fat_cell0.55532044
77MP0001270_distended_abdomen0.54578852
78MP0004043_abnormal_pH_regulation0.53813111
79MP0003632_abnormal_nervous_system0.52551960
80MP0004883_abnormal_blood_vessel0.50877525
81MP0000678_abnormal_parathyroid_gland0.50121641
82MP0005448_abnormal_energy_balance0.50000923
83MP0003300_gastrointestinal_ulcer0.48572429
84MP0003115_abnormal_respiratory_system0.48505883
85MP0000249_abnormal_blood_vessel0.47532805
86MP0003878_abnormal_ear_physiology0.47024595
87MP0005377_hearing/vestibular/ear_phenot0.47024595
88MP0000003_abnormal_adipose_tissue0.46993596
89MP0005376_homeostasis/metabolism_phenot0.45767694
90MP0008004_abnormal_stomach_pH0.42995596
91MP0005083_abnormal_biliary_tract0.42023213
92MP0003953_abnormal_hormone_level0.41509593
93MP0000858_altered_metastatic_potential0.41490873
94MP0002128_abnormal_blood_circulation0.41394763
95MP0002896_abnormal_bone_mineralization0.41200308
96MP0003075_altered_response_to0.39662219
97MP0005395_other_phenotype0.39369561
98MP0003638_abnormal_response/metabolism_0.38172340
99MP0003011_delayed_dark_adaptation0.37930929
100MP0005084_abnormal_gallbladder_morpholo0.36627788

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)9.22744117
2Prolonged partial thromboplastin time (HP:0003645)8.16727290
3Abnormality of complement system (HP:0005339)7.27068343
4Hypobetalipoproteinemia (HP:0003563)6.80646933
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.60972050
6Glomerulonephritis (HP:0000099)6.42633683
7Abnormality of aromatic amino acid family metabolism (HP:0004338)6.41232524
8Joint hemorrhage (HP:0005261)6.40996027
9Systemic lupus erythematosus (HP:0002725)6.24222901
10Conjugated hyperbilirubinemia (HP:0002908)6.01906964
11Abnormality of the common coagulation pathway (HP:0010990)4.87793477
12Intrahepatic cholestasis (HP:0001406)4.65979107
13Xanthomatosis (HP:0000991)4.55702967
14Hypolipoproteinemia (HP:0010981)4.18618832
15Hyperlipoproteinemia (HP:0010980)4.01561709
16Spontaneous abortion (HP:0005268)3.94648610
17Nephritis (HP:0000123)3.92194030
18Hypercholesterolemia (HP:0003124)3.88674813
19Hemorrhage of the eye (HP:0011885)3.74734122
20Hypoalphalipoproteinemia (HP:0003233)3.45719566
21Recurrent gram-negative bacterial infections (HP:0005420)3.36205226
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.32354181
23Menorrhagia (HP:0000132)3.28610277
24Abnormality of the intrinsic pathway (HP:0010989)3.27508896
25Purpura (HP:0000979)3.25582913
26Vascular calcification (HP:0004934)3.23756700
27Fat malabsorption (HP:0002630)3.21256010
28Mitral stenosis (HP:0001718)3.18922157
29Epidermoid cyst (HP:0200040)2.90480973
30Cardiovascular calcification (HP:0011915)2.86846417
31Gingival bleeding (HP:0000225)2.86829116
32Hepatocellular carcinoma (HP:0001402)2.63569778
33Thrombophlebitis (HP:0004418)2.56254205
34Acanthocytosis (HP:0001927)2.50261247
35Myocardial infarction (HP:0001658)2.47297431
36Abnormality of glutamine family amino acid metabolism (HP:0010902)2.46717612
37Small epiphyses (HP:0010585)2.44605552
38Abnormality of carpal bone ossification (HP:0006257)2.42794330
39Abnormality of pyrimidine metabolism (HP:0004353)2.28424675
40Rickets (HP:0002748)2.24325058
41Skin nodule (HP:0200036)2.22130191
42Hypophosphatemic rickets (HP:0004912)2.19360374
43Abnormal tarsal ossification (HP:0008369)2.19159467
44Osteomalacia (HP:0002749)2.14924374
45Arthropathy (HP:0003040)2.12471602
46Pulmonary embolism (HP:0002204)2.09452092
47Flat acetabular roof (HP:0003180)2.06793551
48Protrusio acetabuli (HP:0003179)2.03998867
49Deep venous thrombosis (HP:0002625)10.5174220
50Cholecystitis (HP:0001082)1.95741871
51Abnormal gallbladder physiology (HP:0012438)1.95741871
52Abnormality of methionine metabolism (HP:0010901)1.93091148
53Abnormality of proline metabolism (HP:0010907)1.90950831
54Hydroxyprolinuria (HP:0003080)1.90950831
55Facial shape deformation (HP:0011334)1.90011044
56Potter facies (HP:0002009)1.90011044
57Hyperglycinemia (HP:0002154)1.89074806
58Abnormality of glycine metabolism (HP:0010895)1.88480044
59Abnormality of serine family amino acid metabolism (HP:0010894)1.88480044
60Peritonitis (HP:0002586)1.88178628
61Esophageal varix (HP:0002040)1.87540152
62Hyperglycinuria (HP:0003108)1.85936715
63Hyperammonemia (HP:0001987)1.85421631
64Abnormality of the Achilles tendon (HP:0005109)1.84906700
65Abnormal ossification of hand bones (HP:0005921)1.84487026
66Abnormal hand bone ossification (HP:0010660)1.82348051
67Increased serum pyruvate (HP:0003542)1.80461514
68Bifid scrotum (HP:0000048)1.80296368
69Poikilocytosis (HP:0004447)1.77971136
70Broad alveolar ridges (HP:0000187)1.75435262
71Abnormal delivery (HP:0001787)1.74503047
72Cholelithiasis (HP:0001081)1.73999913
73Vaginal fistula (HP:0004320)1.73006998
74Enlarged kidneys (HP:0000105)1.72292685
75Asymmetry of the thorax (HP:0001555)1.70537128
76Abnormality of glycolysis (HP:0004366)1.67071825
77Hyperbilirubinemia (HP:0002904)1.66626599
78Steatorrhea (HP:0002570)1.65297088
79Generalized aminoaciduria (HP:0002909)1.65293031
80Elevated alkaline phosphatase (HP:0003155)1.64928946
81Amyloidosis (HP:0011034)1.64849823
82Epiphyseal dysplasia (HP:0002656)1.63614632
83Epistaxis (HP:0000421)1.61277079
84Broad palm (HP:0001169)1.60200899
85Joint swelling (HP:0001386)1.60192858
86Abnormality of alkaline phosphatase activity (HP:0004379)1.58646921
87Abnormal gallbladder morphology (HP:0012437)1.58643709
88Pancreatic islet-cell hyperplasia (HP:0004510)1.58603634
89Abnormal enzyme/coenzyme activity (HP:0012379)1.57366497
90Abnormality of the nasal septum (HP:0000419)1.57236593
91Delayed CNS myelination (HP:0002188)1.56959369
92Biconcave vertebral bodies (HP:0004586)1.56423026
93Gout (HP:0001997)1.54892261
94Abnormality of nucleobase metabolism (HP:0010932)1.53574401
95Cerebral aneurysm (HP:0004944)1.52721727
96Neonatal death (HP:0003811)1.51472903
97Flared iliac wings (HP:0002869)1.51129969
98Pigmentary retinal degeneration (HP:0001146)1.50813107
99Hypoglycemic coma (HP:0001325)1.50771069
100Back pain (HP:0003418)1.49824042

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR47.00839286
2FGFR34.37916020
3ERN13.43164369
4ICK3.32644662
5RIPK13.19989434
6WNK42.76592114
7TRIB32.75195619
8CDK122.53763418
9PDGFRA2.39859496
10SIK12.35411627
11PIK3CA2.03624005
12TYRO31.91725464
13AKT31.80719640
14FGFR21.79674327
15EPHA31.71959594
16PKN21.65088843
17DDR21.58439643
18LATS21.54525333
19RET1.52693174
20FGFR11.48944351
21MST1R1.48826078
22ERBB21.41314878
23WNK11.30512399
24TGFBR21.30004436
25PRKAA21.29657203
26TYK21.26703743
27MAPK111.22514899
28EPHA21.21670616
29MET1.21380287
30NTRK31.19230589
31EEF2K1.18484679
32PDPK11.15555649
33DYRK1B1.12516203
34MAP3K21.11975681
35LATS11.10321797
36JAK11.02538213
37CDC42BPA1.00250347
38SIK20.99241826
39EPHB10.92332866
40SGK2230.87650578
41SGK4940.87650578
42LMTK20.87112425
43MAP3K30.83342475
44MAPKAPK30.82949775
45IRAK30.82721623
46MAP3K70.81717381
47MTOR0.80140424
48SGK10.79352258
49FER0.79067209
50PDK10.75535697
51MAP2K60.75507183
52NEK90.73956945
53PTK20.73188587
54PRKACG0.71057240
55SGK30.70892236
56SMG10.68690619
57PDGFRB0.68109395
58NLK0.65201880
59PRKAA10.64585265
60NTRK10.63141456
61PTK60.61126270
62MAP3K10.60910034
63MARK20.59472098
64EIF2AK10.55642186
65CDK70.51050853
66EPHA40.49775423
67CSNK1E0.48436187
68FGR0.48379527
69SGK20.47941378
70IGF1R0.47449239
71SRC0.46334213
72MAP3K60.45402745
73RPS6KB10.44809875
74STK390.44184515
75CSF1R0.43947399
76CAMK40.43561757
77STK380.42032820
78NTRK20.39836677
79JAK20.39728915
80MAPK30.37671066
81NEK60.37409109
82RPS6KA30.36340718
83PRKCZ0.33131647
84MATK0.32388177
85MAPK100.31436238
86KSR20.31173263
87PRKG10.30180465
88ZAP700.29780867
89CAMK1D0.28824000
90GSK3A0.28771549
91MAPK10.26446617
92MAPKAPK20.26290613
93CDK60.25004647
94CSNK1D0.24294313
95MAPK150.23859403
96BRSK10.22976833
97MELK0.21883924
98NME10.21747453
99ERBB40.21575257
100BRD40.19922433

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046105.15841845
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.84262452
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.97386414
4Caffeine metabolism_Homo sapiens_hsa002322.88108562
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.87072085
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.76164627
7Arginine biosynthesis_Homo sapiens_hsa002202.71897303
8Phenylalanine metabolism_Homo sapiens_hsa003602.57711368
9Retinol metabolism_Homo sapiens_hsa008302.56185794
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.32737472
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.27585138
12Chemical carcinogenesis_Homo sapiens_hsa052042.24803325
13Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.21061447
14Fatty acid degradation_Homo sapiens_hsa000712.20062135
15Histidine metabolism_Homo sapiens_hsa003402.15736198
16Tyrosine metabolism_Homo sapiens_hsa003502.15521522
17Staphylococcus aureus infection_Homo sapiens_hsa051502.03386247
18Steroid hormone biosynthesis_Homo sapiens_hsa001402.02584055
19Bile secretion_Homo sapiens_hsa049761.95428801
20Drug metabolism - other enzymes_Homo sapiens_hsa009831.93279509
21PPAR signaling pathway_Homo sapiens_hsa033201.84438840
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.75875656
23Vitamin B6 metabolism_Homo sapiens_hsa007501.74548682
24Fat digestion and absorption_Homo sapiens_hsa049751.66420461
25Starch and sucrose metabolism_Homo sapiens_hsa005001.62896073
26Butanoate metabolism_Homo sapiens_hsa006501.58217819
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.56430450
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.52072039
29Tryptophan metabolism_Homo sapiens_hsa003801.49781171
30Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.49286190
31ABC transporters_Homo sapiens_hsa020101.49158461
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.44379085
33Prion diseases_Homo sapiens_hsa050201.42940118
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42113429
35Linoleic acid metabolism_Homo sapiens_hsa005911.35567907
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.31793218
37Biosynthesis of amino acids_Homo sapiens_hsa012301.23721641
38Arginine and proline metabolism_Homo sapiens_hsa003301.20360099
39Fatty acid metabolism_Homo sapiens_hsa012121.19035637
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12565014
41Other glycan degradation_Homo sapiens_hsa005111.08676642
42Fatty acid biosynthesis_Homo sapiens_hsa000611.08202950
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.07153491
44Peroxisome_Homo sapiens_hsa041460.98318629
45Maturity onset diabetes of the young_Homo sapiens_hsa049500.98199667
46Vitamin digestion and absorption_Homo sapiens_hsa049770.97310007
47Steroid biosynthesis_Homo sapiens_hsa001000.88295076
48Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.86721388
49beta-Alanine metabolism_Homo sapiens_hsa004100.85038044
50Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84743586
51Arachidonic acid metabolism_Homo sapiens_hsa005900.83879823
52Pyruvate metabolism_Homo sapiens_hsa006200.82456713
53Glycosaminoglycan degradation_Homo sapiens_hsa005310.81433459
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.80157560
55Propanoate metabolism_Homo sapiens_hsa006400.77457326
56Carbon metabolism_Homo sapiens_hsa012000.75401762
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.73539204
58Lysine degradation_Homo sapiens_hsa003100.69197733
59Pertussis_Homo sapiens_hsa051330.67436374
60Fructose and mannose metabolism_Homo sapiens_hsa000510.66661827
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.63092926
62One carbon pool by folate_Homo sapiens_hsa006700.62470321
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.58342004
64Insulin resistance_Homo sapiens_hsa049310.50971538
65Adipocytokine signaling pathway_Homo sapiens_hsa049200.44991560
66Thyroid hormone synthesis_Homo sapiens_hsa049180.43453514
67Glycerolipid metabolism_Homo sapiens_hsa005610.41833681
68Galactose metabolism_Homo sapiens_hsa000520.38754664
69Renin-angiotensin system_Homo sapiens_hsa046140.38289665
70Glucagon signaling pathway_Homo sapiens_hsa049220.36454239
71ECM-receptor interaction_Homo sapiens_hsa045120.33326057
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29561402
73Metabolic pathways_Homo sapiens_hsa011000.29014676
74Mineral absorption_Homo sapiens_hsa049780.26693990
75N-Glycan biosynthesis_Homo sapiens_hsa005100.24459098
76AMPK signaling pathway_Homo sapiens_hsa041520.20513174
77Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.18918354
78Nitrogen metabolism_Homo sapiens_hsa009100.15066929
79Amoebiasis_Homo sapiens_hsa051460.13321659
80Sphingolipid metabolism_Homo sapiens_hsa006000.11803975
81Fatty acid elongation_Homo sapiens_hsa000620.11639077
82Insulin signaling pathway_Homo sapiens_hsa049100.11009169
83Pentose phosphate pathway_Homo sapiens_hsa000300.11006686
84Protein digestion and absorption_Homo sapiens_hsa049740.09293902
85alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.08938511
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.08525546
87Carbohydrate digestion and absorption_Homo sapiens_hsa049730.05348322
88Sulfur relay system_Homo sapiens_hsa041220.05329124
89Systemic lupus erythematosus_Homo sapiens_hsa053220.04221382
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.03870573
91Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.03388239
92Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.03250285
93Glutathione metabolism_Homo sapiens_hsa004800.00591209
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1083080
95Choline metabolism in cancer_Homo sapiens_hsa05231-0.1045971
96HIF-1 signaling pathway_Homo sapiens_hsa04066-0.0782737
97Other types of O-glycan biosynthesis_Homo sapiens_hsa00514-0.0723381
98African trypanosomiasis_Homo sapiens_hsa05143-0.0637910
99Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0232369
100Circadian rhythm_Homo sapiens_hsa04710-0.0071446

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