SERPINC1

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: The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)8.53052699
2epoxygenase P450 pathway (GO:0019373)7.92030998
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.58294618
4L-phenylalanine catabolic process (GO:0006559)7.58294618
5omega-hydroxylase P450 pathway (GO:0097267)7.38779300
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.24090137
7L-phenylalanine metabolic process (GO:0006558)7.24090137
8aromatic amino acid family catabolic process (GO:0009074)6.82850817
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.48469283
10indole-containing compound catabolic process (GO:0042436)6.16699478
11indolalkylamine catabolic process (GO:0046218)6.16699478
12tryptophan catabolic process (GO:0006569)6.16699478
13drug metabolic process (GO:0017144)6.06786315
14kynurenine metabolic process (GO:0070189)6.02774152
15oxidative demethylation (GO:0070989)5.98777580
16bile acid biosynthetic process (GO:0006699)5.94896511
17tryptophan metabolic process (GO:0006568)5.81189258
18phenylpropanoid metabolic process (GO:0009698)5.80093419
19glyoxylate metabolic process (GO:0046487)5.76867717
20negative regulation of fibrinolysis (GO:0051918)5.73266314
21urea metabolic process (GO:0019627)5.72707105
22urea cycle (GO:0000050)5.72707105
23high-density lipoprotein particle remodeling (GO:0034375)5.72638960
24alpha-linolenic acid metabolic process (GO:0036109)5.59545746
25regulation of fibrinolysis (GO:0051917)5.53687113
26protein carboxylation (GO:0018214)5.43137475
27peptidyl-glutamic acid carboxylation (GO:0017187)5.43137475
28sulfur amino acid catabolic process (GO:0000098)5.34153822
29cysteine metabolic process (GO:0006534)5.33111435
30complement activation, alternative pathway (GO:0006957)5.32976574
31nitrogen cycle metabolic process (GO:0071941)5.26073983
32regulation of plasminogen activation (GO:0010755)5.26009021
33serine family amino acid catabolic process (GO:0009071)5.14223380
34* regulation of protein activation cascade (GO:2000257)5.13786202
35bile acid metabolic process (GO:0008206)5.10914769
36reverse cholesterol transport (GO:0043691)5.02778098
37regulation of cholesterol esterification (GO:0010872)5.00539836
38regulation of complement activation (GO:0030449)4.98172595
39aromatic amino acid family metabolic process (GO:0009072)4.96476662
40negative regulation of blood coagulation (GO:0030195)4.95807577
41negative regulation of hemostasis (GO:1900047)4.95807577
42protein-lipid complex remodeling (GO:0034368)4.91587987
43macromolecular complex remodeling (GO:0034367)4.91587987
44plasma lipoprotein particle remodeling (GO:0034369)4.91587987
45regulation of triglyceride catabolic process (GO:0010896)4.89927289
46fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.85049253
47tyrosine metabolic process (GO:0006570)4.83376834
48homocysteine metabolic process (GO:0050667)4.76589049
49ethanol metabolic process (GO:0006067)4.75130317
50phospholipid efflux (GO:0033700)4.72244689
51triglyceride homeostasis (GO:0070328)4.69186139
52acylglycerol homeostasis (GO:0055090)4.69186139
53alpha-amino acid catabolic process (GO:1901606)4.64530930
54negative regulation of cholesterol transport (GO:0032375)4.61175702
55negative regulation of sterol transport (GO:0032372)4.61175702
56amino-acid betaine metabolic process (GO:0006577)4.60266604
57alkaloid metabolic process (GO:0009820)4.58410187
58negative regulation of protein activation cascade (GO:2000258)4.56257655
59acute-phase response (GO:0006953)4.51534520
60negative regulation of coagulation (GO:0050819)4.50492407
61negative regulation of wound healing (GO:0061045)4.50361624
62plasma lipoprotein particle clearance (GO:0034381)4.49809472
63lysine metabolic process (GO:0006553)4.49691327
64lysine catabolic process (GO:0006554)4.49691327
65cellular ketone body metabolic process (GO:0046950)4.47850732
66regulation of humoral immune response (GO:0002920)4.45903612
67hormone catabolic process (GO:0042447)4.44946131
68bile acid and bile salt transport (GO:0015721)4.43658171
69S-adenosylmethionine metabolic process (GO:0046500)4.42486620
70glycine metabolic process (GO:0006544)4.42248818
71imidazole-containing compound metabolic process (GO:0052803)4.38610912
72indolalkylamine metabolic process (GO:0006586)4.38568889
73cholesterol efflux (GO:0033344)4.34707327
74coenzyme catabolic process (GO:0009109)4.34322763
75cellular biogenic amine catabolic process (GO:0042402)4.30484751
76amine catabolic process (GO:0009310)4.30484751
77positive regulation of hemostasis (GO:1900048)4.28407861
78positive regulation of blood coagulation (GO:0030194)4.28407861
79cellular amino acid catabolic process (GO:0009063)4.26685709
80cellular glucuronidation (GO:0052695)4.26458929
81glutamate metabolic process (GO:0006536)4.23266456
82serine family amino acid metabolic process (GO:0009069)4.17295865
83low-density lipoprotein particle remodeling (GO:0034374)4.15300384
84benzene-containing compound metabolic process (GO:0042537)4.12143692
85plasma lipoprotein particle assembly (GO:0034377)4.11654862
86fibrinolysis (GO:0042730)4.08875936
87arginine metabolic process (GO:0006525)4.05599166
88ethanol oxidation (GO:0006069)4.04185480
89cellular modified amino acid catabolic process (GO:0042219)4.03975047
90aldehyde catabolic process (GO:0046185)4.03293041
91dicarboxylic acid biosynthetic process (GO:0043650)4.03260308
92serine family amino acid biosynthetic process (GO:0009070)4.02147829
93blood coagulation, intrinsic pathway (GO:0007597)3.97120044
94positive regulation of coagulation (GO:0050820)3.95375318
95drug catabolic process (GO:0042737)3.94712610
96negative regulation of complement activation (GO:0045916)3.93759913
97steroid catabolic process (GO:0006706)3.91597657
98heme transport (GO:0015886)3.89677010
99ketone body metabolic process (GO:1902224)3.87539084
100positive regulation of lipoprotein lipase activity (GO:0051006)3.87367001
101positive regulation of triglyceride lipase activity (GO:0061365)3.87367001
102flavonoid metabolic process (GO:0009812)3.86517356
103very-low-density lipoprotein particle assembly (GO:0034379)3.83231127
104phospholipid homeostasis (GO:0055091)3.82090356
105negative regulation of lipase activity (GO:0060192)3.81923205
106cofactor catabolic process (GO:0051187)3.80640635
107glucuronate metabolic process (GO:0019585)3.78805674
108uronic acid metabolic process (GO:0006063)3.78805674
109positive regulation of lipid catabolic process (GO:0050996)3.78526160
110cholesterol homeostasis (GO:0042632)3.78410539
111protein activation cascade (GO:0072376)3.75906880
112complement activation, classical pathway (GO:0006958)3.75406787
113intestinal cholesterol absorption (GO:0030299)3.75359109
114plasma lipoprotein particle organization (GO:0071827)3.73755680
115carboxylic acid catabolic process (GO:0046395)3.73295591
116organic acid catabolic process (GO:0016054)3.73295591
117complement activation (GO:0006956)3.72743485
118sterol homeostasis (GO:0055092)3.72008391
119regulation of bile acid biosynthetic process (GO:0070857)3.71012139
120regulation of lipoprotein particle clearance (GO:0010984)3.68462407
121protein-lipid complex assembly (GO:0065005)3.68060059
122short-chain fatty acid metabolic process (GO:0046459)3.65008949
123daunorubicin metabolic process (GO:0044597)3.64649054
124polyketide metabolic process (GO:0030638)3.64649054
125doxorubicin metabolic process (GO:0044598)3.64649054
126acetyl-CoA metabolic process (GO:0006084)3.61184985
127NAD biosynthetic process (GO:0009435)3.60404085
128cytolysis (GO:0019835)3.60206060
129opsonization (GO:0008228)3.59486293
130regulation of cholesterol homeostasis (GO:2000188)3.56062818
131nicotinamide nucleotide biosynthetic process (GO:0019359)3.55783380
132xenobiotic metabolic process (GO:0006805)3.54523885
133acute inflammatory response (GO:0002526)3.53340310
134fat-soluble vitamin biosynthetic process (GO:0042362)3.52797244
135drug transmembrane transport (GO:0006855)3.49013984
136response to mercury ion (GO:0046689)3.47675839

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.43271231
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20355331
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.11779562
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.53605555
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.33483834
6* CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.13599884
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.75376263
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.07298859
9* CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.97393545
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.07913890
11* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9732084
12* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.92889388
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89874674
14HTT_18923047_ChIP-ChIP_STHdh_Human1.62932647
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.61620945
16CLOCK_20551151_ChIP-Seq_293T_Human1.47376253
17GATA1_22025678_ChIP-Seq_K562_Human1.45173052
18* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40969168
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.29270922
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25653572
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.21904024
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21351686
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.20205094
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.14269264
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.07720166
26ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03911965
27ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00061178
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93060111
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.90869262
30IRF8_22096565_ChIP-ChIP_GC-B_Human0.89726021
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89068093
32SOX2_27498859_Chip-Seq_STOMACH_Mouse0.87742292
33AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85243878
34* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.84965391
35KAP1_22055183_ChIP-Seq_ESCs_Mouse0.84142117
36* HNFA_21074721_ChIP-Seq_CACO-2_Human0.80870565
37ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.80458244
38GATA4_25053715_ChIP-Seq_YYC3_Human0.80165489
39PHF8_20622853_ChIP-Seq_HELA_Human0.78652775
40* NFE2_27457419_Chip-Seq_LIVER_Mouse0.77371857
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76226981
42BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76192140
43RARG_19884340_ChIP-ChIP_MEFs_Mouse0.75271587
44* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.74595080
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.73744197
46RARA_24833708_ChIP-Seq_LIVER_Mouse0.73551063
47* SOX2_21211035_ChIP-Seq_LN229_Human0.73351615
48SRY_22984422_ChIP-ChIP_TESTIS_Rat0.72721595
49ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.72676552
50NFYA_21822215_ChIP-Seq_K562_Human0.70199551
51CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69605010
52* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69391449
53* GATA6_21074721_ChIP-Seq_CACO-2_Human0.68573811
54AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.67193981
55SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66426963
56NRF2_20460467_ChIP-Seq_MEFs_Mouse0.66344680
57NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.66344680
58NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.64968347
59* EZH2_27294783_Chip-Seq_NPCs_Mouse0.64543442
60ZNF263_19887448_ChIP-Seq_K562_Human0.63730699
61TP53_18474530_ChIP-ChIP_U2OS_Human0.63529400
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.63152797
63RARB_24833708_ChIP-Seq_LIVER_Mouse0.62656070
64ESR2_21235772_ChIP-Seq_MCF-7_Human0.61604847
65BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61578409
66RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61534566
67SOX2_20726797_ChIP-Seq_SW620_Human0.61366082
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.60107249
69PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.59908838
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.59236932
71TCF4_18268006_ChIP-ChIP_LS174T_Human0.59206047
72E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.58618056
73CEBPB_22108803_ChIP-Seq_LS180_Human0.58126773
74PCGF2_27294783_Chip-Seq_NPCs_Mouse0.58111679
75NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.57295335
76* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.57192203
77SPI1_20517297_ChIP-Seq_HL60_Human0.56900433
78SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.56093946
79* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.56014378
80ETV2_25802403_ChIP-Seq_MESCs_Mouse0.55338778
81NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.54983570
82* RAC3_21632823_ChIP-Seq_H3396_Human0.54667309
83EGR1_19032775_ChIP-ChIP_M12_Human0.54477141
84AR_20517297_ChIP-Seq_VCAP_Human0.54188837
85ER_23166858_ChIP-Seq_MCF-7_Human0.53988398
86FOXA1_25552417_ChIP-Seq_VCAP_Human0.53635950
87TAF15_26573619_Chip-Seq_HEK293_Human0.53498557
88PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53291438
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.52471230
90FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.52220831
91GATA3_21867929_ChIP-Seq_CD8_Mouse0.51946550
92ELF1_20517297_ChIP-Seq_JURKAT_Human0.51888996
93FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51696302
94MYC_19915707_ChIP-ChIP_AK7_Human0.51604340
95PIAS1_25552417_ChIP-Seq_VCAP_Human0.51403796
96* CRX_20693478_ChIP-Seq_RETINA_Mouse0.51336338
97* RUNX1_27457419_Chip-Seq_LIVER_Mouse0.51043654
98JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.50743022
99ESET_19884257_ChIP-Seq_ESCs_Mouse0.50293596
100CBP_21632823_ChIP-Seq_H3396_Human0.49958538
101ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.49756713
102SA1_27219007_Chip-Seq_Bcells_Human0.49499567
103* SMAD1_18555785_Chip-Seq_ESCs_Mouse0.49498329
104* STAT1_17558387_ChIP-Seq_HELA_Human0.49490720
105DNAJC2_21179169_ChIP-ChIP_NT2_Human0.49324600
106* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.49295814
107PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.47038473
108P53_21459846_ChIP-Seq_SAOS-2_Human0.46900944
109LXR_22292898_ChIP-Seq_THP-1_Human0.44802033
110STAT3_1855785_ChIP-Seq_MESCs_Mouse0.44781054
111PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44295732
112* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.43391567
113GATA1_19941827_ChIP-Seq_MEL_Mouse0.42534396
114ESR1_21235772_ChIP-Seq_MCF-7_Human0.42480866
115CDX2_20551321_ChIP-Seq_CACO-2_Human0.42258073
116PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42055027
117TAF2_19829295_ChIP-Seq_ESCs_Human0.41891956
118BCAT_22108803_ChIP-Seq_LS180_Human0.41716685
119GATA1_19941826_ChIP-Seq_K562_Human0.41496790
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.40272127
121ESR1_20079471_ChIP-ChIP_T-47D_Human0.40178070
122GATA2_19941826_ChIP-Seq_K562_Human0.39907623
123IRF1_19129219_ChIP-ChIP_H3396_Human0.39440508
124FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.39251432
125SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.39071686
126GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.38809520
127PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38703873
128* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38545699
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.37641471
130STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.37527221
131FOXO3_23340844_ChIP-Seq_DLD1_Human0.36498209
132FOXH1_21741376_ChIP-Seq_EPCs_Human0.36217965
133ERG_21242973_ChIP-ChIP_JURKAT_Human0.36163064
134BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.35769915
135CDX2_22108803_ChIP-Seq_LS180_Human0.35608604
136SPI1_26923725_Chip-Seq_HPCs_Mouse0.35537916
137LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35173524
138GATA6_25053715_ChIP-Seq_YYC3_Human0.34879388

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.36281163
2MP0005360_urolithiasis7.55849890
3MP0005085_abnormal_gallbladder_physiolo6.48432663
4MP0005365_abnormal_bile_salt6.23103646
5MP0008875_abnormal_xenobiotic_pharmacok5.13856694
6MP0003806_abnormal_nucleotide_metabolis4.26207187
7MP0003252_abnormal_bile_duct3.93373071
8MP0010329_abnormal_lipoprotein_level3.64236841
9MP0009840_abnormal_foam_cell3.33468406
10MP0005083_abnormal_biliary_tract3.11015045
11MP0003195_calcinosis2.85825755
12MP0005332_abnormal_amino_acid2.75886284
13MP0001666_abnormal_nutrient_absorption2.59077635
14MP0003191_abnormal_cellular_cholesterol2.36585388
15MP0004019_abnormal_vitamin_homeostasis2.17546711
16* MP0000609_abnormal_liver_physiology2.15324681
17MP0002118_abnormal_lipid_homeostasis2.11401965
18MP0002138_abnormal_hepatobiliary_system2.01505433
19MP0003868_abnormal_feces_composition1.94871318
20MP0005319_abnormal_enzyme/_coenzyme1.82637727
21MP0001764_abnormal_homeostasis1.71421329
22MP0005584_abnormal_enzyme/coenzyme_acti1.56671906
23MP0005451_abnormal_body_composition1.51020231
24MP0003011_delayed_dark_adaptation1.47096062
25MP0003656_abnormal_erythrocyte_physiolo1.29661099
26MP0003186_abnormal_redox_activity1.28767431
27MP0009643_abnormal_urine_homeostasis1.21322797
28MP0005647_abnormal_sex_gland1.16390501
29* MP0000598_abnormal_liver_morphology1.15795775
30MP0000604_amyloidosis1.09300122
31MP0009764_decreased_sensitivity_to1.08543729
32MP0002254_reproductive_system_inflammat1.06565574
33MP0003705_abnormal_hypodermis_morpholog1.04982396
34MP0009763_increased_sensitivity_to1.03972117
35MP0010368_abnormal_lymphatic_system0.98522888
36MP0005636_abnormal_mineral_homeostasis0.93087378
37MP0008469_abnormal_protein_level0.90482996
38MP0005408_hypopigmentation0.89232682
39* MP0009642_abnormal_blood_homeostasis0.87214550
40MP0002876_abnormal_thyroid_physiology0.81924890
41MP0006036_abnormal_mitochondrial_physio0.81488149
42MP0005376_homeostasis/metabolism_phenot0.81078977
43MP0005084_abnormal_gallbladder_morpholo0.80909129
44MP0009765_abnormal_xenobiotic_induced0.79962324
45MP0005670_abnormal_white_adipose0.78422593
46MP0002078_abnormal_glucose_homeostasis0.78343262
47MP0005220_abnormal_exocrine_pancreas0.73456489
48MP0002971_abnormal_brown_adipose0.71359968
49MP0005334_abnormal_fat_pad0.69674023
50MP0001661_extended_life_span0.68098383
51MP0003690_abnormal_glial_cell0.67686315
52MP0005535_abnormal_body_temperature0.66903319
53MP0003879_abnormal_hair_cell0.66226031
54* MP0009697_abnormal_copulation0.66088687
55MP0009053_abnormal_anal_canal0.65893087
56MP0005058_abnormal_lysosome_morphology0.64783514
57MP0004130_abnormal_muscle_cell0.64292155
58MP0005266_abnormal_metabolism0.63835990
59MP0000639_abnormal_adrenal_gland0.63140025
60MP0002282_abnormal_trachea_morphology0.61149593
61MP0003329_amyloid_beta_deposits0.59916306
62MP0005464_abnormal_platelet_physiology0.57468689
63MP0001756_abnormal_urination0.57191594
64MP0006035_abnormal_mitochondrial_morpho0.56471672
65MP0005448_abnormal_energy_balance0.56426642
66* MP0001915_intracranial_hemorrhage0.56023207
67MP0003718_maternal_effect0.52756125
68MP0005395_other_phenotype0.51831194
69MP0002822_catalepsy0.49867943
70MP0002249_abnormal_larynx_morphology0.48645407
71MP0004782_abnormal_surfactant_physiolog0.46953434
72MP0002928_abnormal_bile_duct0.46572556
73MP0003724_increased_susceptibility_to0.45860580
74MP0003638_abnormal_response/metabolism_0.45134368
75MP0008874_decreased_physiological_sensi0.44952807
76MP0003436_decreased_susceptibility_to0.44587672
77MP0008873_increased_physiological_sensi0.44177743
78MP0004381_abnormal_hair_follicle0.43534014
79MP0005023_abnormal_wound_healing0.42446646
80MP0003953_abnormal_hormone_level0.41546995
81MP0005248_abnormal_Harderian_gland0.41475879
82* MP0002136_abnormal_kidney_physiology0.40045063
83MP0009785_altered_susceptibility_to0.40023122
84MP0003075_altered_response_to0.39975901
85MP0002837_dystrophic_cardiac_calcinosis0.38124644
86MP0008872_abnormal_physiological_respon0.37610526
87MP0002089_abnormal_postnatal_growth/wei0.37592411
88MP0005166_decreased_susceptibility_to0.36741763
89MP0009672_abnormal_birth_weight0.36164333
90MP0000579_abnormal_nail_morphology0.35349580
91MP0004883_abnormal_blood_vessel0.34768544
92MP0010386_abnormal_urinary_bladder0.34397815
93MP0006082_CNS_inflammation0.34161858
94MP0005666_abnormal_adipose_tissue0.33852909
95MP0009115_abnormal_fat_cell0.33137131
96MP0001243_abnormal_dermal_layer0.32947279
97MP0000566_synostosis0.31753239
98MP0001853_heart_inflammation0.31574407
99MP0002168_other_aberrant_phenotype0.31107455
100MP0002796_impaired_skin_barrier0.31097832
101MP0000230_abnormal_systemic_arterial0.30964293
102MP0002970_abnormal_white_adipose0.29726219
103MP0002132_abnormal_respiratory_system0.29640523
104MP0003959_abnormal_lean_body0.28569411
105MP0001881_abnormal_mammary_gland0.28197365
106MP0009384_cardiac_valve_regurgitation0.28035430
107MP0005164_abnormal_response_to0.27161653
108* MP0001845_abnormal_inflammatory_respons0.26959768
109* MP0000249_abnormal_blood_vessel0.26415015
110MP0002090_abnormal_vision0.23973404
111MP0000467_abnormal_esophagus_morphology0.23943395
112MP0000427_abnormal_hair_cycle0.23831977
113MP0004272_abnormal_basement_membrane0.21097233
114MP0005167_abnormal_blood-brain_barrier0.19445176
115MP0001851_eye_inflammation0.19400034
116MP0000920_abnormal_myelination0.19362426
117MP0003632_abnormal_nervous_system0.17281215
118MP0003633_abnormal_nervous_system0.14748788
119MP0002332_abnormal_exercise_endurance0.14096994

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.43705875
2Intrahepatic cholestasis (HP:0001406)7.35660458
3* Deep venous thrombosis (HP:0002625)6.94867889
4Prolonged partial thromboplastin time (HP:0003645)6.76131542
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.70551722
6Hypobetalipoproteinemia (HP:0003563)6.54864143
7Xanthomatosis (HP:0000991)6.34976109
8Hyperlipoproteinemia (HP:0010980)5.63424697
9Complement deficiency (HP:0004431)5.34172514
10Joint hemorrhage (HP:0005261)4.98969573
11Hypolipoproteinemia (HP:0010981)4.90067928
12Hyperammonemia (HP:0001987)4.61277099
13Epidermoid cyst (HP:0200040)4.55314896
14Abnormality of the common coagulation pathway (HP:0010990)4.55111377
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.48121199
16Hyperglycinemia (HP:0002154)4.43794473
17Abnormality of methionine metabolism (HP:0010901)4.34734552
18Hypoalphalipoproteinemia (HP:0003233)4.27781548
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.24788969
20Ketosis (HP:0001946)4.22536956
21Fat malabsorption (HP:0002630)4.16473803
22Abnormality of aspartate family amino acid metabolism (HP:0010899)4.15210693
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.14798292
24Hyperglycinuria (HP:0003108)3.91271159
25Abnormality of pyrimidine metabolism (HP:0004353)3.90787762
26Abnormality of serine family amino acid metabolism (HP:0010894)3.90587872
27Abnormality of glycine metabolism (HP:0010895)3.90587872
28Abnormality of complement system (HP:0005339)3.89443900
29Hypoglycemic coma (HP:0001325)3.87314353
30Abnormality of the intrinsic pathway (HP:0010989)3.83130611
31Conjugated hyperbilirubinemia (HP:0002908)3.82072878
32Hypercholesterolemia (HP:0003124)3.68433583
33Hyperbilirubinemia (HP:0002904)3.39507555
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.35644838
35Abnormality of fatty-acid metabolism (HP:0004359)3.31888668
36Spontaneous abortion (HP:0005268)3.12422275
37Steatorrhea (HP:0002570)3.11912330
38Abnormality of serum amino acid levels (HP:0003112)3.10914170
39Delayed CNS myelination (HP:0002188)3.07987337
40Hypochromic microcytic anemia (HP:0004840)3.06804550
41Abnormality of nucleobase metabolism (HP:0010932)3.06297134
42Osteomalacia (HP:0002749)3.06235323
43Hepatocellular carcinoma (HP:0001402)3.02530260
44Ketoacidosis (HP:0001993)2.96842988
45Myocardial infarction (HP:0001658)2.95234437
46Skin nodule (HP:0200036)2.77847556
47Metabolic acidosis (HP:0001942)2.77134214
48Systemic lupus erythematosus (HP:0002725)2.72388216
49Acanthocytosis (HP:0001927)2.67938031
50Purpura (HP:0000979)2.65162218
51Abnormality of purine metabolism (HP:0004352)2.64051819
52Vascular calcification (HP:0004934)2.62402830
53Lethargy (HP:0001254)2.61099491
54Dicarboxylic aciduria (HP:0003215)2.56443854
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.56443854
56Glomerulonephritis (HP:0000099)2.53487571
57Hypoglycemic seizures (HP:0002173)2.53152234
58Abnormal gallbladder morphology (HP:0012437)2.49148153
59Cerebral edema (HP:0002181)2.43601584
60Mitral stenosis (HP:0001718)2.42529202
61Cholelithiasis (HP:0001081)2.42246971
62Cholecystitis (HP:0001082)2.39383134
63Abnormal gallbladder physiology (HP:0012438)2.39383134
64Spastic diplegia (HP:0001264)2.39262837
65Gout (HP:0001997)2.36914137
66Recurrent gram-negative bacterial infections (HP:0005420)2.36887067
67Amyloidosis (HP:0011034)2.35670694
68Irritability (HP:0000737)2.34527826
69Cardiovascular calcification (HP:0011915)2.31973126
70Gingival bleeding (HP:0000225)2.31620076
71Neonatal onset (HP:0003623)2.30460867
72Fair hair (HP:0002286)2.26774101
73Hyperphosphaturia (HP:0003109)2.25273830
74Malnutrition (HP:0004395)2.24616506
75Arthropathy (HP:0003040)2.22774238
76Menorrhagia (HP:0000132)2.22341286
77Esophageal varix (HP:0002040)2.21565355
78Elevated alkaline phosphatase (HP:0003155)2.18200086
79Abnormality of the Achilles tendon (HP:0005109)2.18115282
80Pancreatitis (HP:0001733)2.16053265
81Enlarged kidneys (HP:0000105)2.15226865
82Brushfield spots (HP:0001088)2.13989560
83Thrombophlebitis (HP:0004418)2.13699208
84Poikilocytosis (HP:0004447)2.10480627
85Glycosuria (HP:0003076)2.09354997
86Abnormality of urine glucose concentration (HP:0011016)2.09354997
87Sensorimotor neuropathy (HP:0007141)2.09294177
88Neonatal hypoglycemia (HP:0001998)2.08515234
89Late onset (HP:0003584)2.08048811
90Vomiting (HP:0002013)2.05570905
91Opisthotonus (HP:0002179)2.03702443
92Hyperinsulinemic hypoglycemia (HP:0000825)2.03117311
93Generalized aminoaciduria (HP:0002909)2.02891045
94Abnormality of the gallbladder (HP:0005264)2.01703092
95Hemorrhage of the eye (HP:0011885)1.99751196
96Abnormality of alkaline phosphatase activity (HP:0004379)1.98356678
97Rickets (HP:0002748)1.95798464
98Abnormal biliary tract physiology (HP:0012439)1.93933123
99Bile duct proliferation (HP:0001408)1.93933123
100Renal cortical cysts (HP:0000803)1.93711714
101Abnormality of iron homeostasis (HP:0011031)1.90610816
102Hypophosphatemic rickets (HP:0004912)1.89737718
103Increased serum ferritin (HP:0003281)1.89063989
104Gangrene (HP:0100758)1.88434263
105Abnormality of transition element cation homeostasis (HP:0011030)1.87775959
106Hydroxyprolinuria (HP:0003080)1.83740612
107Abnormality of proline metabolism (HP:0010907)1.83740612
108Abnormal cartilage morphology (HP:0002763)1.83738329
109Elevated hepatic transaminases (HP:0002910)1.83023335
110Alkalosis (HP:0001948)1.81767139
111Abnormal urine phosphate concentration (HP:0012599)1.81612914
112Abnormal enzyme/coenzyme activity (HP:0012379)1.80709246
113* Pulmonary embolism (HP:0002204)1.77994384
114Nephritis (HP:0000123)1.77714165
115Status epilepticus (HP:0002133)1.77182307
116Abnormality of vitamin metabolism (HP:0100508)1.74721809
117Atrioventricular block (HP:0001678)1.74583008
118Bifid scrotum (HP:0000048)1.73548003
119Hyperglycemia (HP:0003074)1.72238137
120Epistaxis (HP:0000421)1.69552202
121Joint swelling (HP:0001386)1.64467917
122Increased mean platelet volume (HP:0011877)1.62530468
123Retinal atrophy (HP:0001105)1.55880655
124Increased serum pyruvate (HP:0003542)1.54023088

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.19718906
2SIK14.61183185
3FGFR44.60102549
4ERN14.15884950
5TAOK33.23203886
6INSRR3.23072183
7ERBB42.95560559
8MAP2K42.33915804
9MST1R2.15631095
10PKN22.03401317
11PIK3CG1.94374779
12FLT31.92441106
13MAPK111.90120416
14PRPF4B1.83484817
15TYK21.77103217
16LATS11.70459677
17MAP3K121.56967154
18DAPK21.56866216
19ABL21.51426695
20NEK91.45880690
21FRK1.44331390
22NTRK31.41540047
23TRIB31.40891853
24PTK61.36067890
25FGFR21.35238737
26KDR1.30546147
27PINK11.22807610
28JAK21.21317841
29PRKAA21.17845250
30MAP3K141.17603371
31MAP3K71.15355332
32MYLK1.14321001
33TBK11.04712321
34JAK11.04125126
35MAP2K31.03901136
36PRKG11.03066911
37GRK61.01638081
38MAPK41.00631750
39ERBB21.00416605
40STK38L0.98963902
41ARAF0.93675652
42TNK20.93591612
43PRKCZ0.91413895
44PDK20.90937151
45PRKACA0.90534283
46SCYL20.90302271
47MAP3K20.87837398
48TIE10.87205257
49MAP3K100.86191623
50MAP3K30.85779838
51MAPK150.85550537
52CSNK1D0.85286738
53MAPK120.81287274
54IRAK30.81285951
55MET0.80409365
56EPHA30.80056409
57SGK10.78970418
58CDK60.76928128
59PRKACG0.76851235
60MAP3K110.76788039
61MUSK0.76568571
62EPHB10.75465437
63NLK0.71544377
64CAMK2G0.71449686
65CSK0.70919242
66PRKCB0.68773685
67EIF2AK10.68516566
68DYRK1B0.67316532
69GSK3A0.66804470
70PRKAA10.66751157
71MAP2K60.66447097
72CAMK1D0.65932635
73SGK30.65290002
74ZAP700.65248059
75RPS6KA30.63531682
76IKBKE0.63227432
77MAPK70.62557558
78CAMKK10.58843818
79TGFBR20.58169667
80GRK10.57919155
81FGFR30.56961196
82CSF1R0.56736929
83FER0.56609657
84PRKCQ0.54926923
85SGK20.54529060
86CAMKK20.53482382
87TAOK20.53322983
88KSR20.52551513
89EPHA40.51315273
90CSNK1G10.50463530
91SRC0.50302703
92PRKACB0.49883053
93PTK20.49873832
94MAP3K130.48944321
95WNK30.48249950
96CSNK1E0.48196912
97STK380.47817352
98RIPK10.47246182
99PBK0.46940201
100CSNK2A20.46751668
101PIM20.46599396
102MAP3K50.45856287
103PDPK10.45534271
104MAP3K60.45489583
105IGF1R0.45166141
106CSNK2A10.45094324
107STK160.44926683
108MAPKAPK30.44883413
109PKN10.43064487
110PRKCG0.42653521
111CDK40.39322004
112MAP2K10.39260762
113PDGFRA0.37104949
114SGK2230.36623338
115SGK4940.36623338
116CSNK1A10.35407165
117TESK20.35149244
118RET0.35064447
119CAMK40.32561308
120IRAK10.32463892
121IRAK20.32173621
122EGFR0.30234073
123MTOR0.28467151
124CSNK1G20.27707914
125PDK10.27125139
126PRKCA0.26747543
127ICK0.26625842
128MAP3K10.25762915
129CSNK1G30.25756999
130AKT30.24685002
131PIK3CA0.23880776
132ABL10.22310413
133LATS20.20917611
134MAPK30.19627148
135CHUK0.18159492
136PAK30.18129791

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.50919926
2Nitrogen metabolism_Homo sapiens_hsa009103.63619987
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.37530323
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.36565274
5Arginine biosynthesis_Homo sapiens_hsa002203.07921327
6* Complement and coagulation cascades_Homo sapiens_hsa046102.75067364
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.72872086
8Tryptophan metabolism_Homo sapiens_hsa003802.68021156
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.61273012
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54374279
11Fatty acid degradation_Homo sapiens_hsa000712.47177565
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36713437
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.26342813
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.15944504
15Butanoate metabolism_Homo sapiens_hsa006502.14018692
16Peroxisome_Homo sapiens_hsa041462.07639655
17Chemical carcinogenesis_Homo sapiens_hsa052041.97164973
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.95148292
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94693815
20Histidine metabolism_Homo sapiens_hsa003401.92025238
21Propanoate metabolism_Homo sapiens_hsa006401.91527509
22PPAR signaling pathway_Homo sapiens_hsa033201.85503594
23Fatty acid metabolism_Homo sapiens_hsa012121.80555450
24Staphylococcus aureus infection_Homo sapiens_hsa051501.80546948
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.77621212
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74044431
27Retinol metabolism_Homo sapiens_hsa008301.72586376
28beta-Alanine metabolism_Homo sapiens_hsa004101.72165148
29Caffeine metabolism_Homo sapiens_hsa002321.70389870
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66087764
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62138154
32Selenocompound metabolism_Homo sapiens_hsa004501.58105136
33Phenylalanine metabolism_Homo sapiens_hsa003601.56441650
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.52352423
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.46889272
36Bile secretion_Homo sapiens_hsa049761.46839472
37Tyrosine metabolism_Homo sapiens_hsa003501.44317220
38Fatty acid elongation_Homo sapiens_hsa000621.36705037
39Sulfur metabolism_Homo sapiens_hsa009201.34602936
40Pyruvate metabolism_Homo sapiens_hsa006201.34100264
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.30861032
42Starch and sucrose metabolism_Homo sapiens_hsa005001.28287460
43Steroid biosynthesis_Homo sapiens_hsa001001.24260688
44ABC transporters_Homo sapiens_hsa020101.21629634
45Folate biosynthesis_Homo sapiens_hsa007901.20678143
46Biosynthesis of amino acids_Homo sapiens_hsa012301.18164072
47Fat digestion and absorption_Homo sapiens_hsa049751.17177533
48Carbon metabolism_Homo sapiens_hsa012001.10213950
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05510391
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.01811519
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.01762531
52Vitamin B6 metabolism_Homo sapiens_hsa007500.98802227
53Cyanoamino acid metabolism_Homo sapiens_hsa004600.98235564
54Arginine and proline metabolism_Homo sapiens_hsa003300.97233588
55Sulfur relay system_Homo sapiens_hsa041220.93949374
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89513117
57Vitamin digestion and absorption_Homo sapiens_hsa049770.88646677
58Lysine degradation_Homo sapiens_hsa003100.80994986
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79437714
60One carbon pool by folate_Homo sapiens_hsa006700.78965344
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67947225
62Glycerolipid metabolism_Homo sapiens_hsa005610.66827962
63Glutathione metabolism_Homo sapiens_hsa004800.65178914
64Pentose phosphate pathway_Homo sapiens_hsa000300.56674401
65Fatty acid biosynthesis_Homo sapiens_hsa000610.54826071
66Metabolic pathways_Homo sapiens_hsa011000.46434689
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.41862337
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.39626178
69Prion diseases_Homo sapiens_hsa050200.33594406
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27508492
71Galactose metabolism_Homo sapiens_hsa000520.25308107
72Linoleic acid metabolism_Homo sapiens_hsa005910.23687353
73Fructose and mannose metabolism_Homo sapiens_hsa000510.22041741
74Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21321225
75Insulin resistance_Homo sapiens_hsa049310.21086490
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.20161958
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.15833899
78Other glycan degradation_Homo sapiens_hsa005110.12115983
79Glucagon signaling pathway_Homo sapiens_hsa049220.08017707
80Circadian rhythm_Homo sapiens_hsa04710-0.2599927
81Pertussis_Homo sapiens_hsa05133-0.2531523
82Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2513478
83Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2466165
84RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.2451510
85Ether lipid metabolism_Homo sapiens_hsa00565-0.2252068
86Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2147358
87Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2110623
88Renin-angiotensin system_Homo sapiens_hsa04614-0.1955287
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1922941
90Type II diabetes mellitus_Homo sapiens_hsa04930-0.1920094
91Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1833218
92Hepatitis C_Homo sapiens_hsa05160-0.1785560
93N-Glycan biosynthesis_Homo sapiens_hsa00510-0.1694340
94Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1611143
95Sphingolipid metabolism_Homo sapiens_hsa00600-0.1576102
96Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1421429
97Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1379722
98Regulation of autophagy_Homo sapiens_hsa04140-0.1321850
99African trypanosomiasis_Homo sapiens_hsa05143-0.1271052
100Insulin signaling pathway_Homo sapiens_hsa04910-0.1162795
101Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0914066
102Mineral absorption_Homo sapiens_hsa04978-0.0767357
103Amoebiasis_Homo sapiens_hsa05146-0.0680102
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0662566
105Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0519174
106Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0475137
107Serotonergic synapse_Homo sapiens_hsa04726-0.0190631
108AMPK signaling pathway_Homo sapiens_hsa04152-0.0003707

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