F12

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 coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)8.16428249
2epoxygenase P450 pathway (GO:0019373)7.93958683
3omega-hydroxylase P450 pathway (GO:0097267)7.79531010
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.62027981
5L-phenylalanine catabolic process (GO:0006559)7.62027981
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.29196705
7L-phenylalanine metabolic process (GO:0006558)7.29196705
8aromatic amino acid family catabolic process (GO:0009074)6.82717965
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.46375828
10indole-containing compound catabolic process (GO:0042436)6.14424171
11indolalkylamine catabolic process (GO:0046218)6.14424171
12tryptophan catabolic process (GO:0006569)6.14424171
13kynurenine metabolic process (GO:0070189)6.03121161
14bile acid biosynthetic process (GO:0006699)5.97422853
15drug metabolic process (GO:0017144)5.84559505
16glyoxylate metabolic process (GO:0046487)5.83279975
17tryptophan metabolic process (GO:0006568)5.78726608
18negative regulation of fibrinolysis (GO:0051918)5.77543885
19urea metabolic process (GO:0019627)5.74187216
20urea cycle (GO:0000050)5.74187216
21oxidative demethylation (GO:0070989)5.73316964
22high-density lipoprotein particle remodeling (GO:0034375)5.70730659
23alpha-linolenic acid metabolic process (GO:0036109)5.57741464
24phenylpropanoid metabolic process (GO:0009698)5.48038155
25regulation of protein activation cascade (GO:2000257)5.46012321
26protein carboxylation (GO:0018214)5.45638555
27peptidyl-glutamic acid carboxylation (GO:0017187)5.45638555
28complement activation, alternative pathway (GO:0006957)5.44132155
29sulfur amino acid catabolic process (GO:0000098)5.37569861
30cysteine metabolic process (GO:0006534)5.35104289
31nitrogen cycle metabolic process (GO:0071941)5.27737338
32* regulation of fibrinolysis (GO:0051917)5.20615602
33serine family amino acid catabolic process (GO:0009071)5.12708817
34bile acid metabolic process (GO:0008206)5.09710109
35regulation of complement activation (GO:0030449)5.08920358
36ethanol metabolic process (GO:0006067)5.04262671
37reverse cholesterol transport (GO:0043691)5.01885536
38regulation of cholesterol esterification (GO:0010872)4.99188245
39aromatic amino acid family metabolic process (GO:0009072)4.96540457
40regulation of triglyceride catabolic process (GO:0010896)4.94304233
41plasma lipoprotein particle remodeling (GO:0034369)4.89836305
42protein-lipid complex remodeling (GO:0034368)4.89836305
43macromolecular complex remodeling (GO:0034367)4.89836305
44fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.86393480
45tyrosine metabolic process (GO:0006570)4.84408025
46homocysteine metabolic process (GO:0050667)4.80494123
47acylglycerol homeostasis (GO:0055090)4.69663644
48triglyceride homeostasis (GO:0070328)4.69663644
49phospholipid efflux (GO:0033700)4.68143275
50alkaloid metabolic process (GO:0009820)4.67196647
51alpha-amino acid catabolic process (GO:1901606)4.65231522
52* negative regulation of hemostasis (GO:1900047)4.63680658
53* negative regulation of blood coagulation (GO:0030195)4.63680658
54regulation of humoral immune response (GO:0002920)4.60859163
55amino-acid betaine metabolic process (GO:0006577)4.60735182
56negative regulation of sterol transport (GO:0032372)4.60104389
57negative regulation of cholesterol transport (GO:0032375)4.60104389
58lysine catabolic process (GO:0006554)4.56508222
59lysine metabolic process (GO:0006553)4.56508222
60opsonization (GO:0008228)4.53269894
61plasma lipoprotein particle clearance (GO:0034381)4.48719403
62cellular ketone body metabolic process (GO:0046950)4.46757299
63* regulation of plasminogen activation (GO:0010755)4.46142249
64glycine metabolic process (GO:0006544)4.42115359
65coenzyme catabolic process (GO:0009109)4.39084190
66bile acid and bile salt transport (GO:0015721)4.38757070
67imidazole-containing compound metabolic process (GO:0052803)4.36779638
68indolalkylamine metabolic process (GO:0006586)4.35691444
69cholesterol efflux (GO:0033344)4.32275060
70S-adenosylmethionine metabolic process (GO:0046500)4.29874363
71glutamate metabolic process (GO:0006536)4.27816894
72cellular amino acid catabolic process (GO:0009063)4.27675442
73cellular biogenic amine catabolic process (GO:0042402)4.26095599
74amine catabolic process (GO:0009310)4.26095599
75cellular glucuronidation (GO:0052695)4.19450212
76* negative regulation of coagulation (GO:0050819)4.18709730
77serine family amino acid metabolic process (GO:0009069)4.17977964
78* negative regulation of wound healing (GO:0061045)4.17045492
79negative regulation of protein activation cascade (GO:2000258)4.16297779
80plasma lipoprotein particle assembly (GO:0034377)4.10106819
81benzene-containing compound metabolic process (GO:0042537)4.09919386
82cellular modified amino acid catabolic process (GO:0042219)4.08779174
83arginine metabolic process (GO:0006525)4.08276700
84low-density lipoprotein particle remodeling (GO:0034374)4.06014570
85dicarboxylic acid biosynthetic process (GO:0043650)4.04947292
86aldehyde catabolic process (GO:0046185)4.02740859
87ethanol oxidation (GO:0006069)4.02256158
88serine family amino acid biosynthetic process (GO:0009070)4.01769122
89regulation of lipoprotein particle clearance (GO:0010984)3.98930808
90positive regulation of fatty acid biosynthetic process (GO:0045723)3.95815944
91drug catabolic process (GO:0042737)3.90222143
92positive regulation of lipoprotein lipase activity (GO:0051006)3.88550221
93positive regulation of triglyceride lipase activity (GO:0061365)3.88550221
94ketone body metabolic process (GO:1902224)3.86731260
95* positive regulation of blood coagulation (GO:0030194)3.84048232
96* positive regulation of hemostasis (GO:1900048)3.84048232
97cofactor catabolic process (GO:0051187)3.83983065
98complement activation, classical pathway (GO:0006958)3.82539628
99negative regulation of lipase activity (GO:0060192)3.82068347
100phospholipid homeostasis (GO:0055091)3.79978522
101cholesterol homeostasis (GO:0042632)3.79268200
102positive regulation of lipid catabolic process (GO:0050996)3.78921169
103complement activation (GO:0006956)3.78841431
104very-low-density lipoprotein particle assembly (GO:0034379)3.76009053
105* fibrinolysis (GO:0042730)3.75128777
106disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.74509817
107killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.74509817
108regulation of bile acid biosynthetic process (GO:0070857)3.74059081
109organic acid catabolic process (GO:0016054)3.73456930
110carboxylic acid catabolic process (GO:0046395)3.73456930
111sterol homeostasis (GO:0055092)3.72913178
112plasma lipoprotein particle organization (GO:0071827)3.72364576
113glucuronate metabolic process (GO:0019585)3.72053772
114uronic acid metabolic process (GO:0006063)3.72053772
115cytolysis (GO:0019835)3.71015749
116* protein activation cascade (GO:0072376)3.68367661
117protein-lipid complex assembly (GO:0065005)3.67496102
118L-serine metabolic process (GO:0006563)3.67216018
119acetyl-CoA metabolic process (GO:0006084)3.63727384
120regulation of cholesterol homeostasis (GO:2000188)3.63559840
121proline metabolic process (GO:0006560)3.63245467
122short-chain fatty acid metabolic process (GO:0046459)3.60185320
123* blood coagulation, intrinsic pathway (GO:0007597)3.59639421
124flavonoid metabolic process (GO:0009812)3.59476218
125regulation of apoptotic cell clearance (GO:2000425)3.59055708
126NAD biosynthetic process (GO:0009435)3.57681704
127acute-phase response (GO:0006953)3.57111611
128heme transport (GO:0015886)3.56274428
129intestinal cholesterol absorption (GO:0030299)3.53570049
130* positive regulation of coagulation (GO:0050820)3.51556334
131* acute inflammatory response (GO:0002526)3.50772330
132negative regulation of complement activation (GO:0045916)3.46295668
133arginine catabolic process (GO:0006527)3.43551664

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.40488303
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20161273
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.02339560
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.50035882
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.35638684
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.17206869
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.85525060
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.05590302
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.05016091
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08313175
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0814581
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.99746656
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96990021
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.61470662
15HTT_18923047_ChIP-ChIP_STHdh_Human1.56002847
16CLOCK_20551151_ChIP-Seq_293T_Human1.55973933
17GATA1_22025678_ChIP-Seq_K562_Human1.48366576
18HNF4A_19822575_ChIP-Seq_HepG2_Human1.40917708
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.38078130
20TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.36467708
21SRY_22984422_ChIP-ChIP_TESTIS_Rat1.36383248
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.34672245
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.21132703
24* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.18566183
25* TET1_21451524_ChIP-Seq_MESCs_Mouse1.16794161
26STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16614906
27TP63_17297297_ChIP-ChIP_HaCaT_Human1.15856913
28ELF1_20517297_ChIP-Seq_JURKAT_Human1.15760693
29SMC4_20622854_ChIP-Seq_HELA_Human1.10972066
30* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09808019
31TRIM28_21343339_ChIP-Seq_HEK293_Human1.04209897
32CTCF_27219007_Chip-Seq_Bcells_Human1.02616412
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02148733
34ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00824725
35P68_20966046_ChIP-Seq_HELA_Human1.00567258
36IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.99461626
37* E2F1_20622854_ChIP-Seq_HELA_Human0.97358078
38RACK7_27058665_Chip-Seq_MCF-7_Human0.96332188
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92852062
40SOX2_27498859_Chip-Seq_STOMACH_Mouse0.90854176
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90100336
42TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.88385868
43RAC3_21632823_ChIP-Seq_H3396_Human0.87600537
44* BCL6_27268052_Chip-Seq_Bcells_Human0.86452047
45* BCOR_27268052_Chip-Seq_Bcells_Human0.85801147
46SA1_27219007_Chip-Seq_Bcells_Human0.85765939
47CTCF_20526341_ChIP-Seq_ESCs_Human0.84994919
48PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84309013
49IRF8_22096565_ChIP-ChIP_GC-B_Human0.84282539
50ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.84018463
51AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83890098
52RARG_19884340_ChIP-ChIP_MEFs_Mouse0.82562478
53PHF8_20622854_ChIP-Seq_HELA_Human0.82475999
54SOX2_21211035_ChIP-Seq_LN229_Human0.81343127
55ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.79736874
56SA1_27219007_Chip-Seq_ERYTHROID_Human0.79670180
57SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79122676
58GATA4_25053715_ChIP-Seq_YYC3_Human0.78869936
59ELK3_25401928_ChIP-Seq_HUVEC_Human0.77858848
60CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.77158676
61ZNF263_19887448_ChIP-Seq_K562_Human0.76916298
62SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76337603
63KAP1_22055183_ChIP-Seq_ESCs_Mouse0.75091709
64BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75032764
65RARA_24833708_ChIP-Seq_LIVER_Mouse0.74909469
66CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.71717805
67Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.71164505
68SPI1_20517297_ChIP-Seq_HL60_Human0.70437725
69OCT4_18692474_ChIP-Seq_MEFs_Mouse0.70414132
70CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70210003
71GATA3_21867929_ChIP-Seq_CD8_Mouse0.69652548
72PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.69642241
73SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.68590380
74P300_27268052_Chip-Seq_Bcells_Human0.68026135
75VDR_21846776_ChIP-Seq_THP-1_Human0.68024491
76POU5F1_16518401_ChIP-PET_MESCs_Mouse0.67749689
77CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.67144367
78CREB1_26743006_Chip-Seq_LNCaP_Human0.66893186
79YY1_22570637_ChIP-Seq_MALME-3M_Human0.66888670
80EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.66825619
81JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.66757927
82SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66356837
83AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.66291929
84EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.65660559
85NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.65139451
86ESR2_21235772_ChIP-Seq_MCF-7_Human0.64998944
87RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64618464
88P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.64134062
89RARB_24833708_ChIP-Seq_LIVER_Mouse0.63942814
90* ERA_21632823_ChIP-Seq_H3396_Human0.63331135
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.62930013
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.62930013
93EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.62711314
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.62406380
95RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61664774
96NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.60700532
97BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60252096
98ETS1_21867929_ChIP-Seq_TH2_Mouse0.57531528
99NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.56876678
100EGR1_19032775_ChIP-ChIP_M12_Human0.55291656
101LXR_22292898_ChIP-Seq_THP-1_Human0.54615674
102* CEBPB_22108803_ChIP-Seq_LS180_Human0.54385888
103STAT3_1855785_ChIP-Seq_MESCs_Mouse0.53100150
104FOXA1_25552417_ChIP-Seq_VCAP_Human0.52536734
105AR_20517297_ChIP-Seq_VCAP_Human0.52254742
106* ESR1_15608294_ChIP-ChIP_MCF-7_Human0.52087600
107MYC_19915707_ChIP-ChIP_AK7_Human0.51727499
108FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51095807
109PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.51046665
110FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50323092
111E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.49520310
112ESET_19884257_ChIP-Seq_ESCs_Mouse0.47419486
113CBP_21632823_ChIP-Seq_H3396_Human0.47274845
114P53_21459846_ChIP-Seq_SAOS-2_Human0.46939661
115FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.45897442
116STAT1_17558387_ChIP-Seq_HELA_Human0.45658854
117PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44945971
118PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44771889
119GATA1_19941826_ChIP-Seq_K562_Human0.44669764
120GATA1_19941827_ChIP-Seq_MEL_Mouse0.43889309
121ESR1_21235772_ChIP-Seq_MCF-7_Human0.43202107
122TAF2_19829295_ChIP-Seq_ESCs_Human0.42816509
123PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.42727644
124CDX2_20551321_ChIP-Seq_CACO-2_Human0.41611834
125TAF15_26573619_Chip-Seq_HEK293_Human0.41117165
126FOXO3_23340844_ChIP-Seq_DLD1_Human0.40939505
127FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.40874685
128GATA2_19941826_ChIP-Seq_K562_Human0.40788791
129* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40505062
130ERG_21242973_ChIP-ChIP_JURKAT_Human0.40225458
131GATA6_25053715_ChIP-Seq_YYC3_Human0.38544839
132PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38280903
133STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.37995046
134CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.37800163
135ESR1_20079471_ChIP-ChIP_T-47D_Human0.36693546
136BCAT_22108803_ChIP-Seq_LS180_Human0.36625335
137* MYC_27129775_Chip-Seq_CORNEA_Mouse0.35956174
138LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35407547
139ERG_20517297_ChIP-Seq_VCAP_Human0.34279681
140NCOR_22424771_ChIP-Seq_293T_Human0.33780095
141SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.33668336
142FOXH1_21741376_ChIP-Seq_EPCs_Human0.33510980
143* SPI1_26923725_Chip-Seq_HPCs_Mouse0.33249124
144SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.33104196
145GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.32835984

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.27674185
2MP0005360_urolithiasis7.49248639
3MP0005085_abnormal_gallbladder_physiolo6.47075420
4MP0005365_abnormal_bile_salt6.19334039
5MP0008875_abnormal_xenobiotic_pharmacok5.13578715
6MP0003806_abnormal_nucleotide_metabolis4.20873130
7MP0003252_abnormal_bile_duct3.91840917
8MP0010329_abnormal_lipoprotein_level3.62848365
9MP0009840_abnormal_foam_cell3.36566358
10MP0005083_abnormal_biliary_tract3.08689875
11MP0003195_calcinosis2.82378085
12MP0005332_abnormal_amino_acid2.75457243
13MP0001666_abnormal_nutrient_absorption2.60122611
14MP0003191_abnormal_cellular_cholesterol2.45030044
15MP0000609_abnormal_liver_physiology2.18448046
16MP0004019_abnormal_vitamin_homeostasis2.13769764
17MP0002118_abnormal_lipid_homeostasis2.10942843
18MP0002138_abnormal_hepatobiliary_system1.98424883
19MP0003868_abnormal_feces_composition1.95875920
20MP0005319_abnormal_enzyme/_coenzyme1.83320220
21MP0001764_abnormal_homeostasis1.67910970
22MP0009697_abnormal_copulation1.60289571
23MP0005584_abnormal_enzyme/coenzyme_acti1.57220297
24MP0003011_delayed_dark_adaptation1.46682435
25MP0005451_abnormal_body_composition1.44899689
26MP0003656_abnormal_erythrocyte_physiolo1.33880177
27MP0003186_abnormal_redox_activity1.26876746
28MP0009643_abnormal_urine_homeostasis1.21637686
29MP0000598_abnormal_liver_morphology1.19648637
30MP0003705_abnormal_hypodermis_morpholog1.15831339
31MP0005647_abnormal_sex_gland1.13304019
32MP0000604_amyloidosis1.11237123
33MP0009764_decreased_sensitivity_to1.06010942
34MP0002254_reproductive_system_inflammat1.05294465
35MP0002249_abnormal_larynx_morphology1.05026015
36MP0009763_increased_sensitivity_to1.03189958
37MP0010368_abnormal_lymphatic_system0.97846787
38MP0003879_abnormal_hair_cell0.97177288
39MP0005636_abnormal_mineral_homeostasis0.92400709
40MP0008469_abnormal_protein_level0.89972142
41MP0009642_abnormal_blood_homeostasis0.87558887
42MP0000566_synostosis0.85766584
43MP0005408_hypopigmentation0.84266906
44MP0002282_abnormal_trachea_morphology0.82514826
45MP0005670_abnormal_white_adipose0.82216583
46MP0006036_abnormal_mitochondrial_physio0.82059664
47MP0005376_homeostasis/metabolism_phenot0.80554564
48MP0009765_abnormal_xenobiotic_induced0.78715942
49MP0002078_abnormal_glucose_homeostasis0.77762707
50MP0005084_abnormal_gallbladder_morpholo0.76759954
51MP0002876_abnormal_thyroid_physiology0.75376189
52MP0001915_intracranial_hemorrhage0.73236828
53MP0005220_abnormal_exocrine_pancreas0.72962980
54MP0002971_abnormal_brown_adipose0.72371051
55MP0005187_abnormal_penis_morphology0.71081619
56MP0004130_abnormal_muscle_cell0.68676039
57MP0005334_abnormal_fat_pad0.68617517
58MP0003690_abnormal_glial_cell0.68025253
59MP0005535_abnormal_body_temperature0.66822855
60MP0009053_abnormal_anal_canal0.66601688
61MP0001661_extended_life_span0.66169203
62MP0005266_abnormal_metabolism0.64545864
63MP0003329_amyloid_beta_deposits0.63873825
64MP0000639_abnormal_adrenal_gland0.62350529
65MP0001756_abnormal_urination0.57952519
66MP0001348_abnormal_lacrimal_gland0.56873043
67MP0006035_abnormal_mitochondrial_morpho0.56697371
68MP0005464_abnormal_platelet_physiology0.55968538
69MP0005448_abnormal_energy_balance0.55529776
70MP0000467_abnormal_esophagus_morphology0.52211324
71MP0002822_catalepsy0.51038837
72MP0005395_other_phenotype0.48891980
73MP0003718_maternal_effect0.46897058
74MP0003638_abnormal_response/metabolism_0.46415809
75MP0008873_increased_physiological_sensi0.45683516
76MP0008874_decreased_physiological_sensi0.45511782
77MP0002928_abnormal_bile_duct0.44895310
78MP0003436_decreased_susceptibility_to0.44135121
79MP0002136_abnormal_kidney_physiology0.44011820
80MP0009785_altered_susceptibility_to0.42901053
81MP0003724_increased_susceptibility_to0.42754347
82MP0002837_dystrophic_cardiac_calcinosis0.40694024
83MP0004782_abnormal_surfactant_physiolog0.40618783
84MP0003953_abnormal_hormone_level0.40148751
85MP0000678_abnormal_parathyroid_gland0.39445587
86MP0005248_abnormal_Harderian_gland0.38622437
87MP0008872_abnormal_physiological_respon0.38610550
88MP0004381_abnormal_hair_follicle0.38572217
89MP0001851_eye_inflammation0.38400292
90MP0005666_abnormal_adipose_tissue0.38105904
91MP0009672_abnormal_birth_weight0.37432391
92MP0000579_abnormal_nail_morphology0.35499214
93MP0002089_abnormal_postnatal_growth/wei0.34613149
94MP0004883_abnormal_blood_vessel0.33828869
95MP0009384_cardiac_valve_regurgitation0.33359475
96MP0002796_impaired_skin_barrier0.33154978
97MP0001243_abnormal_dermal_layer0.32954831
98MP0001986_abnormal_taste_sensitivity0.32939446
99MP0000249_abnormal_blood_vessel0.32861092
100MP0009115_abnormal_fat_cell0.32800553
101MP0005023_abnormal_wound_healing0.31607908
102MP0000230_abnormal_systemic_arterial0.31047002
103MP0002970_abnormal_white_adipose0.30683770
104MP0006082_CNS_inflammation0.30111806
105MP0002168_other_aberrant_phenotype0.29559095
106MP0001853_heart_inflammation0.29419775
107MP0001845_abnormal_inflammatory_respons0.28634388
108MP0001881_abnormal_mammary_gland0.28004006
109MP0005164_abnormal_response_to0.26682155
110MP0002909_abnormal_adrenal_gland0.25452733
111MP0002132_abnormal_respiratory_system0.25210406
112MP0002090_abnormal_vision0.24448624
113MP0002060_abnormal_skin_morphology0.24090035
114MP0005058_abnormal_lysosome_morphology0.23160460
115MP0001944_abnormal_pancreas_morphology0.23039656
116MP0000427_abnormal_hair_cycle0.22384268
117MP0002234_abnormal_pharynx_morphology0.21394267

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.53640887
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.45339806
3Intrahepatic cholestasis (HP:0001406)7.30954870
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.72304604
5Hypobetalipoproteinemia (HP:0003563)6.45880236
6Xanthomatosis (HP:0000991)6.36261209
7* Prolonged partial thromboplastin time (HP:0003645)6.12386718
8Hyperlipoproteinemia (HP:0010980)5.65582895
9Complement deficiency (HP:0004431)5.48917311
10Joint hemorrhage (HP:0005261)4.89494022
11Hypolipoproteinemia (HP:0010981)4.89071943
12Hyperammonemia (HP:0001987)4.61536150
13Abnormality of the common coagulation pathway (HP:0010990)4.57468245
14Epidermoid cyst (HP:0200040)4.54056970
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.46947105
16Hyperglycinemia (HP:0002154)4.37426969
17Abnormality of methionine metabolism (HP:0010901)4.34538614
18Hypoalphalipoproteinemia (HP:0003233)4.33648055
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.26013601
20Ketosis (HP:0001946)4.24161496
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.14692336
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.13662596
23Fat malabsorption (HP:0002630)4.10285890
24Abnormality of complement system (HP:0005339)4.01051680
25Abnormality of pyrimidine metabolism (HP:0004353)3.87010643
26Abnormality of glycine metabolism (HP:0010895)3.86701108
27Abnormality of serine family amino acid metabolism (HP:0010894)3.86701108
28Hyperglycinuria (HP:0003108)3.86062879
29Hypoglycemic coma (HP:0001325)3.84049212
30Conjugated hyperbilirubinemia (HP:0002908)3.67798101
31Hypercholesterolemia (HP:0003124)3.64449049
32Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.36731055
33Hyperbilirubinemia (HP:0002904)3.36130313
34Abnormality of fatty-acid metabolism (HP:0004359)3.31948240
35Spontaneous abortion (HP:0005268)3.18818696
36* Abnormality of the intrinsic pathway (HP:0010989)3.17333206
37Steatorrhea (HP:0002570)3.08680971
38Abnormality of serum amino acid levels (HP:0003112)3.06092522
39Delayed CNS myelination (HP:0002188)3.04751126
40Abnormality of nucleobase metabolism (HP:0010932)3.04703267
41Hypochromic microcytic anemia (HP:0004840)3.04342175
42Hepatocellular carcinoma (HP:0001402)3.02935526
43Ketoacidosis (HP:0001993)2.96269259
44Myocardial infarction (HP:0001658)2.95958585
45Purpura (HP:0000979)2.82307324
46Skin nodule (HP:0200036)2.80770513
47Systemic lupus erythematosus (HP:0002725)2.79528618
48Metabolic acidosis (HP:0001942)2.75346668
49Abnormality of purine metabolism (HP:0004352)2.63549578
50Acanthocytosis (HP:0001927)2.62890653
51Lethargy (HP:0001254)2.59827079
52Neonatal hypoglycemia (HP:0001998)2.56105666
53Vascular calcification (HP:0004934)2.55316015
54Dicarboxylic aciduria (HP:0003215)2.55141142
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.55141142
56Abnormality of the Achilles tendon (HP:0005109)2.53605963
57Abnormal gallbladder morphology (HP:0012437)2.52147978
58Glomerulonephritis (HP:0000099)2.50383763
59Abnormal gallbladder physiology (HP:0012438)2.46840189
60Cholecystitis (HP:0001082)2.46840189
61Hypoglycemic seizures (HP:0002173)2.46505233
62Cholelithiasis (HP:0001081)2.46429703
63Spastic diplegia (HP:0001264)2.45759600
64Gout (HP:0001997)2.44688553
65Cerebral edema (HP:0002181)2.43693801
66Recurrent gram-negative bacterial infections (HP:0005420)2.43094358
67Mitral stenosis (HP:0001718)2.43078018
68Amyloidosis (HP:0011034)2.41718083
69Neonatal onset (HP:0003623)2.35879143
70Irritability (HP:0000737)2.35727649
71Osteomalacia (HP:0002749)2.32314572
72Gingival bleeding (HP:0000225)2.31459074
73Pulmonary embolism (HP:0002204)2.29914448
74Reduced antithrombin III activity (HP:0001976)2.26216386
75Cardiovascular calcification (HP:0011915)2.26205286
76Esophageal varix (HP:0002040)2.22801743
77Malnutrition (HP:0004395)2.22072415
78Menorrhagia (HP:0000132)2.19042265
79Thrombophlebitis (HP:0004418)2.16039744
80Pancreatitis (HP:0001733)2.14442975
81Brushfield spots (HP:0001088)2.13880898
82Fair hair (HP:0002286)2.13074753
83Sensorimotor neuropathy (HP:0007141)2.12993675
84Enlarged kidneys (HP:0000105)2.12884556
85Late onset (HP:0003584)2.10193948
86Increased serum ferritin (HP:0003281)2.09594604
87Poikilocytosis (HP:0004447)2.08979731
88Abnormality of the gallbladder (HP:0005264)2.04626254
89Hemorrhage of the eye (HP:0011885)2.03005213
90Opisthotonus (HP:0002179)2.00764106
91Generalized aminoaciduria (HP:0002909)1.99130332
92Hyperinsulinemic hypoglycemia (HP:0000825)1.99029405
93Bifid scrotum (HP:0000048)1.97461531
94Gangrene (HP:0100758)1.96742434
95* Vomiting (HP:0002013)1.96315395
96Hyperphosphaturia (HP:0003109)1.95877618
97Abnormality of iron homeostasis (HP:0011031)1.93057130
98Rickets (HP:0002748)1.92742192
99Atrioventricular block (HP:0001678)1.90818921
100Abnormality of transition element cation homeostasis (HP:0011030)1.89414145
101Elevated alkaline phosphatase (HP:0003155)1.88113998
102Abnormal cartilage morphology (HP:0002763)1.87345116
103Hypophosphatemic rickets (HP:0004912)1.85818268
104Renal cortical cysts (HP:0000803)1.82626754
105Hydroxyprolinuria (HP:0003080)1.82103152
106Abnormality of proline metabolism (HP:0010907)1.82103152
107Elevated hepatic transaminases (HP:0002910)1.81664762
108Status epilepticus (HP:0002133)1.79727037
109Abnormal enzyme/coenzyme activity (HP:0012379)1.79436101
110Alkalosis (HP:0001948)1.79165268
111Nephritis (HP:0000123)1.76825939
112Impaired platelet aggregation (HP:0003540)1.75831659
113Abnormal platelet function (HP:0011869)1.75831659
114Arthropathy (HP:0003040)1.75808491
115Abnormality of alkaline phosphatase activity (HP:0004379)1.74796753
116Hyperglycemia (HP:0003074)1.73113445
117Reticulocytosis (HP:0001923)1.72108690
118Cerebral palsy (HP:0100021)1.68810160
119Joint swelling (HP:0001386)1.68776211
120Glycosuria (HP:0003076)1.68020956
121Abnormality of urine glucose concentration (HP:0011016)1.68020956
122Epistaxis (HP:0000421)1.64298317
123Abnormality of vitamin metabolism (HP:0100508)1.64123228
124Abnormal urine phosphate concentration (HP:0012599)1.63712689
125Increased serum pyruvate (HP:0003542)1.56552537

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.18945411
2FGFR44.67689615
3SIK14.50900944
4ERN14.46987323
5TAOK33.05088555
6ERBB43.03436096
7INSRR2.97580873
8SMG12.89275446
9MAP2K42.38397182
10PRPF4B2.34401687
11PKN22.20440617
12MST1R2.12132502
13MAPK111.96173167
14NME21.89633064
15FLT31.88526492
16ARAF1.86253760
17TRIB31.79385990
18TYK21.73237336
19PIK3CG1.66041494
20LATS11.62337144
21PDK21.56429338
22DAPK21.54832530
23EPHA21.52366649
24ABL21.51133327
25PTK61.49657761
26NEK91.41769182
27FGFR21.34043953
28KDR1.34037066
29FRK1.29889508
30EEF2K1.27776827
31JAK21.25375703
32TNK21.18130427
33MAP3K71.17173315
34PIM21.16426490
35GRK61.14626705
36PINK11.12009537
37MAPKAPK31.11496818
38PRKAA21.11196045
39MAP2K31.07982715
40ERBB21.07335282
41TBK11.06913369
42JAK11.02835779
43MAPK41.01276127
44MAP3K100.98982667
45STK160.98070738
46MAP3K140.94051978
47PRKCZ0.91912688
48NTRK30.90035904
49PIK3CA0.89727406
50MAP3K30.88488475
51EPHB10.88397184
52MAPK150.86595024
53MET0.85192112
54MAP3K110.83547141
55STK38L0.83062676
56MAPK120.82415745
57EPHA30.81725652
58CDK60.79962827
59PRKACG0.77004991
60TESK20.75947180
61TIE10.75700404
62TAOK10.75349035
63CAMK2G0.74552670
64DYRK1B0.71203956
65SCYL20.70223811
66CSK0.69349054
67PRKCI0.68095420
68GSK3A0.67599300
69MAP2K60.66491042
70BRAF0.65720122
71AKT20.64735907
72PRKAA10.64403051
73CAMKK10.64295103
74CAMK1D0.63921271
75SGK30.62144957
76CDK70.62044248
77RIPK10.61304464
78ILK0.59836934
79TGFBR20.59370621
80RPS6KB20.58614565
81IRAK30.58521579
82MAPK70.58073203
83FGFR30.57722244
84AURKA0.57254543
85PTK20.56897295
86IKBKE0.56118618
87CSF1R0.55266319
88MUSK0.54001537
89CSNK2A20.51851323
90LRRK20.51635862
91PDPK10.51192675
92PRKCQ0.51067227
93VRK20.50997102
94SIK20.50365157
95MAP3K20.49361347
96CSNK1G10.48436398
97PRKACA0.47887502
98TAOK20.47862629
99EPHA40.47661854
100CSNK2A10.45953452
101MAP3K50.45599368
102SGK20.44517731
103PKN10.44182100
104GRK10.43839653
105MAP2K10.43498211
106BRSK10.42740890
107IGF1R0.42240361
108PRKCG0.41848877
109CDK40.41674822
110MAP3K130.41586648
111DYRK20.41221106
112RET0.41145562
113CSNK1E0.39936991
114MAP3K60.39663156
115MAP3K90.39493132
116FER0.39439861
117ICK0.37308610
118CSNK1D0.36480988
119EIF2AK10.36001901
120MTOR0.35427598
121PBK0.35323942
122EGFR0.35105087
123PRKG10.34887282
124TLK10.33549993
125CAMK40.33130526
126SGK2230.31471235
127SGK4940.31471235
128PDK10.30868993
129CSNK1G20.28746503
130DAPK10.27369062
131CDK120.27128227
132MAP3K10.26932822
133PRKCB0.26385928
134CSNK1G30.26181818
135PRKCA0.25632260
136RPS6KA30.25566603
137LATS20.25396951
138IRAK10.24096144
139CHUK0.23470628
140IRAK40.22852672
141MAP2K20.22591453
142BMX0.21351270
143IRAK20.21263305
144ABL10.21102687
145PAK30.20896396
146MAPK30.18180824
147CAMK1G0.17700378

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.55764930
2Nitrogen metabolism_Homo sapiens_hsa009103.65791647
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.45277045
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.31435517
5Arginine biosynthesis_Homo sapiens_hsa002203.12205347
6* Complement and coagulation cascades_Homo sapiens_hsa046102.78169279
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.67761008
8Tryptophan metabolism_Homo sapiens_hsa003802.67702937
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.63033619
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.56429329
11Fatty acid degradation_Homo sapiens_hsa000712.47978697
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35769706
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.21712592
14Butanoate metabolism_Homo sapiens_hsa006502.13321282
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10363027
16Peroxisome_Homo sapiens_hsa041462.06992652
17Chemical carcinogenesis_Homo sapiens_hsa052041.93050402
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.90977316
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.89998895
20Histidine metabolism_Homo sapiens_hsa003401.89464893
21Propanoate metabolism_Homo sapiens_hsa006401.89420179
22PPAR signaling pathway_Homo sapiens_hsa033201.87652098
23Staphylococcus aureus infection_Homo sapiens_hsa051501.80445440
24Fatty acid metabolism_Homo sapiens_hsa012121.79632993
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76263707
26Caffeine metabolism_Homo sapiens_hsa002321.75545307
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.74365643
28beta-Alanine metabolism_Homo sapiens_hsa004101.69039241
29Retinol metabolism_Homo sapiens_hsa008301.67978493
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.63477197
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.60070523
32Selenocompound metabolism_Homo sapiens_hsa004501.59142940
33Phenylalanine metabolism_Homo sapiens_hsa003601.57031170
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.53277333
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51545219
36Bile secretion_Homo sapiens_hsa049761.48528891
37Tyrosine metabolism_Homo sapiens_hsa003501.43941906
38Pyruvate metabolism_Homo sapiens_hsa006201.35385295
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.34900831
40Sulfur metabolism_Homo sapiens_hsa009201.33505933
41Fatty acid elongation_Homo sapiens_hsa000621.32995672
42Starch and sucrose metabolism_Homo sapiens_hsa005001.26661242
43Biosynthesis of amino acids_Homo sapiens_hsa012301.22416481
44Folate biosynthesis_Homo sapiens_hsa007901.21346465
45Steroid biosynthesis_Homo sapiens_hsa001001.20797564
46ABC transporters_Homo sapiens_hsa020101.19131118
47Fat digestion and absorption_Homo sapiens_hsa049751.17810627
48Carbon metabolism_Homo sapiens_hsa012001.12894798
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05201720
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.00723978
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.99170020
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.98234155
53Vitamin B6 metabolism_Homo sapiens_hsa007500.96974822
54Arginine and proline metabolism_Homo sapiens_hsa003300.96367733
55Sulfur relay system_Homo sapiens_hsa041220.95874293
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87550891
57Vitamin digestion and absorption_Homo sapiens_hsa049770.86204349
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83623470
59Lysine degradation_Homo sapiens_hsa003100.80118414
60One carbon pool by folate_Homo sapiens_hsa006700.76599511
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70299888
62Glycerolipid metabolism_Homo sapiens_hsa005610.66512146
63Glutathione metabolism_Homo sapiens_hsa004800.64637666
64Pentose phosphate pathway_Homo sapiens_hsa000300.59216462
65Fatty acid biosynthesis_Homo sapiens_hsa000610.52203186
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46818256
67Metabolic pathways_Homo sapiens_hsa011000.45946869
68Prion diseases_Homo sapiens_hsa050200.38518875
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38103813
70Pertussis_Homo sapiens_hsa051330.33744131
71Galactose metabolism_Homo sapiens_hsa000520.25650232
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25382481
73Fructose and mannose metabolism_Homo sapiens_hsa000510.24679650
74Insulin resistance_Homo sapiens_hsa049310.23182113
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.22233658
76Linoleic acid metabolism_Homo sapiens_hsa005910.22147020
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19501213
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.16501161
79Glucagon signaling pathway_Homo sapiens_hsa049220.10177206
80AMPK signaling pathway_Homo sapiens_hsa041520.02097154
81Other glycan degradation_Homo sapiens_hsa005110.00438042
82Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2432976
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2414671
84Bladder cancer_Homo sapiens_hsa05219-0.2414548
85Amoebiasis_Homo sapiens_hsa05146-0.2385627
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2374276
87Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2287395
88Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1981498
89Sphingolipid metabolism_Homo sapiens_hsa00600-0.1912045
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1903552
91Renin-angiotensin system_Homo sapiens_hsa04614-0.1885830
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1738271
93Hepatitis C_Homo sapiens_hsa05160-0.1734259
94Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1689143
95Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1578144
96Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1555620
97Regulation of autophagy_Homo sapiens_hsa04140-0.1412796
98Pyrimidine metabolism_Homo sapiens_hsa00240-0.1408360
99African trypanosomiasis_Homo sapiens_hsa05143-0.1323892
100Serotonergic synapse_Homo sapiens_hsa04726-0.1268117
101Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1225561
102N-Glycan biosynthesis_Homo sapiens_hsa00510-0.1173581
103Insulin signaling pathway_Homo sapiens_hsa04910-0.1020396
104Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0881266
105Mineral absorption_Homo sapiens_hsa04978-0.0874745
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0736310
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0716514
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0400449

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