FTCD

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 bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)7.91699526
2epoxygenase P450 pathway (GO:0019373)7.86694748
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.67656199
4L-phenylalanine catabolic process (GO:0006559)7.67656199
5omega-hydroxylase P450 pathway (GO:0097267)7.65320702
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.32619059
7L-phenylalanine metabolic process (GO:0006558)7.32619059
8aromatic amino acid family catabolic process (GO:0009074)6.92011705
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.33067783
10tryptophan catabolic process (GO:0006569)6.31092878
11indole-containing compound catabolic process (GO:0042436)6.31092878
12indolalkylamine catabolic process (GO:0046218)6.31092878
13kynurenine metabolic process (GO:0070189)6.16604721
14regulation of plasminogen activation (GO:0010755)6.08294737
15bile acid biosynthetic process (GO:0006699)6.01041594
16tryptophan metabolic process (GO:0006568)5.93309471
17glyoxylate metabolic process (GO:0046487)5.86992319
18urea cycle (GO:0000050)5.67337610
19urea metabolic process (GO:0019627)5.67337610
20alpha-linolenic acid metabolic process (GO:0036109)5.63017242
21negative regulation of fibrinolysis (GO:0051918)5.60828473
22high-density lipoprotein particle remodeling (GO:0034375)5.53778904
23ethanol metabolic process (GO:0006067)5.53777876
24regulation of fibrinolysis (GO:0051917)5.44098319
25protein carboxylation (GO:0018214)5.39176993
26peptidyl-glutamic acid carboxylation (GO:0017187)5.39176993
27regulation of protein activation cascade (GO:2000257)5.39099588
28cysteine metabolic process (GO:0006534)5.37558348
29complement activation, alternative pathway (GO:0006957)5.35682271
30sulfur amino acid catabolic process (GO:0000098)5.34919692
31drug metabolic process (GO:0017144)5.28427954
32nitrogen cycle metabolic process (GO:0071941)5.21686124
33serine family amino acid catabolic process (GO:0009071)5.15261101
34oxidative demethylation (GO:0070989)5.13375609
35bile acid metabolic process (GO:0008206)5.11112011
36regulation of complement activation (GO:0030449)5.03403753
37aromatic amino acid family metabolic process (GO:0009072)5.02280232
38fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.96459097
39negative regulation of blood coagulation (GO:0030195)4.93304808
40negative regulation of hemostasis (GO:1900047)4.93304808
41intestinal cholesterol absorption (GO:0030299)4.86826154
42reverse cholesterol transport (GO:0043691)4.85463566
43tyrosine metabolic process (GO:0006570)4.83671330
44regulation of triglyceride catabolic process (GO:0010896)4.82777590
45regulation of cholesterol esterification (GO:0010872)4.81063900
46homocysteine metabolic process (GO:0050667)4.76988941
47acute-phase response (GO:0006953)4.76911930
48regulation of humoral immune response (GO:0002920)4.76649646
49plasma lipoprotein particle remodeling (GO:0034369)4.74553307
50protein-lipid complex remodeling (GO:0034368)4.74553307
51macromolecular complex remodeling (GO:0034367)4.74553307
52triglyceride homeostasis (GO:0070328)4.66241580
53acylglycerol homeostasis (GO:0055090)4.66241580
54negative regulation of protein activation cascade (GO:2000258)4.65838744
55* alpha-amino acid catabolic process (GO:1901606)4.62643746
56lysine catabolic process (GO:0006554)4.61328181
57lysine metabolic process (GO:0006553)4.61328181
58amino-acid betaine metabolic process (GO:0006577)4.60468398
59negative regulation of cholesterol transport (GO:0032375)4.57098424
60negative regulation of sterol transport (GO:0032372)4.57098424
61phospholipid efflux (GO:0033700)4.56447844
62positive regulation of blood coagulation (GO:0030194)4.54879912
63positive regulation of hemostasis (GO:1900048)4.54879912
64negative regulation of coagulation (GO:0050819)4.49158695
65coenzyme catabolic process (GO:0009109)4.48379774
66regulation of apoptotic cell clearance (GO:2000425)4.46900061
67indolalkylamine metabolic process (GO:0006586)4.46851356
68cellular ketone body metabolic process (GO:0046950)4.45401825
69glycine metabolic process (GO:0006544)4.43729308
70bile acid and bile salt transport (GO:0015721)4.39946805
71opsonization (GO:0008228)4.38434716
72negative regulation of wound healing (GO:0061045)4.38392390
73cellular biogenic amine catabolic process (GO:0042402)4.37740837
74amine catabolic process (GO:0009310)4.37740837
75plasma lipoprotein particle clearance (GO:0034381)4.34417887
76cellular glucuronidation (GO:0052695)4.29419194
77phenylpropanoid metabolic process (GO:0009698)4.27464906
78* cellular amino acid catabolic process (GO:0009063)4.25566827
79S-adenosylmethionine metabolic process (GO:0046500)4.22315769
80cholesterol efflux (GO:0033344)4.22275799
81serine family amino acid metabolic process (GO:0009069)4.21540194
82benzene-containing compound metabolic process (GO:0042537)4.18648710
83positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.16252115
84positive regulation of coagulation (GO:0050820)4.16182565
85ethanol oxidation (GO:0006069)4.15491785
86cellular modified amino acid catabolic process (GO:0042219)4.11779303
87killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.07485097
88disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.07485097
89dicarboxylic acid biosynthetic process (GO:0043650)4.06211414
90serine family amino acid biosynthetic process (GO:0009070)4.05652663
91* glutamate metabolic process (GO:0006536)4.05060919
92aldehyde catabolic process (GO:0046185)4.04234782
93arginine metabolic process (GO:0006525)4.03976577
94fibrinolysis (GO:0042730)4.01640434
95protein-lipid complex subunit organization (GO:0071825)4.00342410
96plasma lipoprotein particle assembly (GO:0034377)3.96676213
97drug catabolic process (GO:0042737)3.95756553
98low-density lipoprotein particle remodeling (GO:0034374)3.95603052
99protein-lipid complex assembly (GO:0065005)3.94426809
100positive regulation of fatty acid biosynthetic process (GO:0045723)3.86647479
101blood coagulation, intrinsic pathway (GO:0007597)3.85748670
102ketone body metabolic process (GO:1902224)3.85504068
103cofactor catabolic process (GO:0051187)3.82723615
104glucuronate metabolic process (GO:0019585)3.81935521
105uronic acid metabolic process (GO:0006063)3.81935521
106positive regulation of lipoprotein lipase activity (GO:0051006)3.81334352
107positive regulation of triglyceride lipase activity (GO:0061365)3.81334352
108complement activation, classical pathway (GO:0006958)3.81290439
109regulation of bile acid biosynthetic process (GO:0070857)3.78471932
110* imidazole-containing compound metabolic process (GO:0052803)3.76406830
111complement activation (GO:0006956)3.75203859
112negative regulation of complement activation (GO:0045916)3.74726066
113protein activation cascade (GO:0072376)3.73836987
114phospholipid homeostasis (GO:0055091)3.73833974
115regulation of cholesterol homeostasis (GO:2000188)3.73506004
116cytolysis (GO:0019835)3.73349443
117cholesterol homeostasis (GO:0042632)3.73082653
118very-low-density lipoprotein particle assembly (GO:0034379)3.72646596
119* carboxylic acid catabolic process (GO:0046395)3.72246979
120* organic acid catabolic process (GO:0016054)3.72246979
121negative regulation of lipase activity (GO:0060192)3.72092714
122positive regulation of lipid catabolic process (GO:0050996)3.71085112
123acetyl-CoA metabolic process (GO:0006084)3.70354260
124sterol homeostasis (GO:0055092)3.66934892
125short-chain fatty acid metabolic process (GO:0046459)3.65158594
126response to mercury ion (GO:0046689)3.62288879
127NAD biosynthetic process (GO:0009435)3.62052069
128alkaloid metabolic process (GO:0009820)3.61997951
129plasma lipoprotein particle organization (GO:0071827)3.60988522
130nicotinamide nucleotide biosynthetic process (GO:0019359)3.57131484
131pyridine nucleotide biosynthetic process (GO:0019363)3.57131484
132acute inflammatory response (GO:0002526)3.53576696
133proline metabolic process (GO:0006560)3.51440985
134lipoprotein metabolic process (GO:0042157)3.47861939
135flavonoid metabolic process (GO:0009812)3.44994805

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.39340042
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20085299
3EGR1_23403033_ChIP-Seq_LIVER_Mouse7.03077397
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.51083845
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.33661262
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.07778782
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.77987362
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.07123922
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.99974242
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.05593587
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9935004
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.97392614
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96084874
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.60467123
15HTT_18923047_ChIP-ChIP_STHdh_Human1.55273622
16CLOCK_20551151_ChIP-Seq_293T_Human1.51669048
17GATA1_22025678_ChIP-Seq_K562_Human1.48981438
18* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40075654
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31162710
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.29331350
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.20843535
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18962769
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17340756
24CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.08330038
25TRIM28_21343339_ChIP-Seq_HEK293_Human1.05979636
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03864446
27IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.03107474
28ESR1_15608294_ChIP-ChIP_MCF-7_Human1.02152017
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96155451
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.92560521
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.92323787
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86696028
33RARG_19884340_ChIP-ChIP_MEFs_Mouse0.86181225
34IRF8_22096565_ChIP-ChIP_GC-B_Human0.85758032
35RAC3_21632823_ChIP-Seq_H3396_Human0.83878772
36AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83576118
37ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.82478051
38SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79054174
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.78158606
40SMC4_20622854_ChIP-Seq_HELA_Human0.77967090
41KAP1_22055183_ChIP-Seq_ESCs_Mouse0.77292165
42* GATA4_25053715_ChIP-Seq_YYC3_Human0.77036781
43DNAJC2_21179169_ChIP-ChIP_NT2_Human0.77001709
44SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76209966
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75620597
46SOX2_21211035_ChIP-Seq_LN229_Human0.74578255
47BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.74537901
48RARA_24833708_ChIP-Seq_LIVER_Mouse0.74010497
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.72083083
50Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.72021112
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68107518
52POU5F1_16518401_ChIP-PET_MESCs_Mouse0.67678113
53ZNF263_19887448_ChIP-Seq_K562_Human0.67290848
54ESR2_21235772_ChIP-Seq_MCF-7_Human0.67240299
55* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.64828996
56TCF4_18268006_ChIP-ChIP_LS174T_Human0.64822431
57NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.64239535
58NRF2_20460467_ChIP-Seq_MEFs_Mouse0.64239535
59ELF1_20517297_ChIP-Seq_JURKAT_Human0.63878944
60RARB_24833708_ChIP-Seq_LIVER_Mouse0.63777286
61RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.63561337
62E2F1_20622854_ChIP-Seq_HELA_Human0.61946685
63RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61814204
64BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61567709
65CTCF_27219007_Chip-Seq_Bcells_Human0.61171078
66NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.61156221
67NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.59956042
68NFIB_24661679_ChIP-Seq_LUNG_Mouse0.59589483
69P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.58298545
70MYC_19829295_ChIP-Seq_ESCs_Human0.58290876
71TP63_17297297_ChIP-ChIP_HaCaT_Human0.57318192
72NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.57179980
73CEBPB_22108803_ChIP-Seq_LS180_Human0.56998291
74P68_20966046_ChIP-Seq_HELA_Human0.54567417
75LXR_22292898_ChIP-Seq_THP-1_Human0.54221670
76PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.54098932
77FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53622438
78PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53373486
79SRY_22984422_ChIP-ChIP_TESTIS_Rat0.53079055
80SPI1_20517297_ChIP-Seq_HL60_Human0.53059935
81FOXA1_25552417_ChIP-Seq_VCAP_Human0.53014189
82NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.52978748
83STAT3_1855785_ChIP-Seq_MESCs_Mouse0.52925676
84EGR1_19032775_ChIP-ChIP_M12_Human0.52279592
85AR_20517297_ChIP-Seq_VCAP_Human0.52112562
86FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51544218
87GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.51333602
88FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50982087
89CSB_26484114_Chip-Seq_FIBROBLAST_Human0.50895493
90GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.50706608
91CTCF_20526341_ChIP-Seq_ESCs_Human0.50534143
92* MYC_19915707_ChIP-ChIP_AK7_Human0.50264902
93CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.49100496
94EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.48884274
95SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.48863305
96BCOR_27268052_Chip-Seq_Bcells_Human0.48717000
97ESET_19884257_ChIP-Seq_ESCs_Mouse0.48436694
98CBP_21632823_ChIP-Seq_H3396_Human0.47982745
99STAT1_17558387_ChIP-Seq_HELA_Human0.47686833
100JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.46998706
101ETV2_25802403_ChIP-Seq_MESCs_Mouse0.46392342
102P53_21459846_ChIP-Seq_SAOS-2_Human0.46302761
103ESR1_21235772_ChIP-Seq_MCF-7_Human0.46244992
104PHF8_20622854_ChIP-Seq_HELA_Human0.46184964
105PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46131251
106CDX2_20551321_ChIP-Seq_CACO-2_Human0.45258859
107TAF15_26573619_Chip-Seq_HEK293_Human0.44874027
108PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.43156551
109PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42753837
110FOXO3_23340844_ChIP-Seq_DLD1_Human0.42564664
111GATA1_19941827_ChIP-Seq_MEL_Mouse0.42348196
112TAF2_19829295_ChIP-Seq_ESCs_Human0.42069154
113E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.41895503
114FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41778103
115GATA1_19941826_ChIP-Seq_K562_Human0.41685246
116ESR1_20079471_ChIP-ChIP_T-47D_Human0.41209784
117* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.40747988
118GATA2_19941826_ChIP-Seq_K562_Human0.39082827
119STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.38984894
120ERG_21242973_ChIP-ChIP_JURKAT_Human0.38806931
121GATA6_25053715_ChIP-Seq_YYC3_Human0.38757053
122PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38689055
123BCAT_22108803_ChIP-Seq_LS180_Human0.38618112
124* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.38178228
125* MYC_27129775_Chip-Seq_CORNEA_Mouse0.36074125
126FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.35913653
127CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.34845297
128FOXH1_21741376_ChIP-Seq_EPCs_Human0.34412418
129GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.33957130
130NCOR_22424771_ChIP-Seq_293T_Human0.33885720
131* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.33875226
132OCT4_20526341_ChIP-Seq_ESCs_Human0.33009557
133* SPI1_26923725_Chip-Seq_HPCs_Mouse0.32729812
134* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.32480365

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.31187443
2MP0005360_urolithiasis7.52826878
3MP0005085_abnormal_gallbladder_physiolo6.46749299
4MP0005365_abnormal_bile_salt6.16969869
5MP0008875_abnormal_xenobiotic_pharmacok5.14772043
6MP0003806_abnormal_nucleotide_metabolis4.31952641
7MP0003252_abnormal_bile_duct3.95108567
8MP0010329_abnormal_lipoprotein_level3.59066153
9MP0009840_abnormal_foam_cell3.25602934
10MP0005083_abnormal_biliary_tract3.10122850
11MP0003195_calcinosis2.89431561
12MP0005332_abnormal_amino_acid2.77276733
13MP0001666_abnormal_nutrient_absorption2.60011717
14MP0003191_abnormal_cellular_cholesterol2.32738546
15MP0000609_abnormal_liver_physiology2.16578867
16MP0004019_abnormal_vitamin_homeostasis2.12870408
17MP0002118_abnormal_lipid_homeostasis2.10574962
18MP0002138_abnormal_hepatobiliary_system1.96243850
19MP0003868_abnormal_feces_composition1.88627058
20MP0005319_abnormal_enzyme/_coenzyme1.83145310
21MP0001764_abnormal_homeostasis1.66267682
22MP0009697_abnormal_copulation1.59246961
23MP0005584_abnormal_enzyme/coenzyme_acti1.56418832
24MP0000566_synostosis1.55431842
25MP0005451_abnormal_body_composition1.47211649
26MP0003011_delayed_dark_adaptation1.37440355
27MP0003186_abnormal_redox_activity1.26641307
28MP0003656_abnormal_erythrocyte_physiolo1.26327923
29MP0009643_abnormal_urine_homeostasis1.23291906
30MP0003122_maternal_imprinting1.19132532
31MP0000598_abnormal_liver_morphology1.17694777
32MP0005647_abnormal_sex_gland1.17208425
33MP0003705_abnormal_hypodermis_morpholog1.14022798
34MP0001915_intracranial_hemorrhage1.12321797
35MP0009764_decreased_sensitivity_to1.07057927
36MP0003879_abnormal_hair_cell1.05987154
37MP0000604_amyloidosis1.05437437
38MP0002254_reproductive_system_inflammat1.03531272
39MP0009763_increased_sensitivity_to1.01624334
40MP0010368_abnormal_lymphatic_system1.00777980
41MP0005636_abnormal_mineral_homeostasis0.92794465
42MP0002282_abnormal_trachea_morphology0.88842951
43MP0008469_abnormal_protein_level0.88701803
44MP0009642_abnormal_blood_homeostasis0.86978722
45MP0005408_hypopigmentation0.84669437
46MP0006036_abnormal_mitochondrial_physio0.81952587
47MP0005084_abnormal_gallbladder_morpholo0.81728920
48MP0005376_homeostasis/metabolism_phenot0.79964861
49MP0002876_abnormal_thyroid_physiology0.78235416
50MP0009765_abnormal_xenobiotic_induced0.77879308
51MP0002078_abnormal_glucose_homeostasis0.77299136
52MP0002249_abnormal_larynx_morphology0.77199424
53MP0002089_abnormal_postnatal_growth/wei0.75333707
54MP0005670_abnormal_white_adipose0.74346254
55MP0005220_abnormal_exocrine_pancreas0.72921371
56MP0002971_abnormal_brown_adipose0.71990579
57MP0005334_abnormal_fat_pad0.69434014
58MP0005535_abnormal_body_temperature0.67569911
59MP0004130_abnormal_muscle_cell0.66190323
60MP0003690_abnormal_glial_cell0.66139280
61MP0003172_abnormal_lysosome_physiology0.65870533
62MP0005266_abnormal_metabolism0.65630740
63MP0001661_extended_life_span0.64345113
64MP0009053_abnormal_anal_canal0.63504535
65MP0003329_amyloid_beta_deposits0.60765511
66MP0001756_abnormal_urination0.58968289
67MP0006292_abnormal_olfactory_placode0.58735188
68MP0000639_abnormal_adrenal_gland0.58624535
69MP0006035_abnormal_mitochondrial_morpho0.58077277
70MP0005448_abnormal_energy_balance0.54511427
71MP0005464_abnormal_platelet_physiology0.52536724
72MP0002822_catalepsy0.50030278
73MP0002928_abnormal_bile_duct0.48678575
74MP0005395_other_phenotype0.48488107
75MP0003724_increased_susceptibility_to0.47498965
76MP0004782_abnormal_surfactant_physiolog0.46358874
77MP0003718_maternal_effect0.45988208
78MP0002136_abnormal_kidney_physiology0.45806215
79MP0003638_abnormal_response/metabolism_0.45509479
80MP0008874_decreased_physiological_sensi0.45423362
81MP0005023_abnormal_wound_healing0.45252478
82MP0003436_decreased_susceptibility_to0.43734457
83MP0004381_abnormal_hair_follicle0.43187600
84MP0008873_increased_physiological_sensi0.42782722
85MP0002837_dystrophic_cardiac_calcinosis0.41859736
86MP0005187_abnormal_penis_morphology0.41707360
87MP0009780_abnormal_chondrocyte_physiolo0.41328092
88MP0003075_altered_response_to0.40969285
89MP0003953_abnormal_hormone_level0.40489302
90MP0005166_decreased_susceptibility_to0.40102598
91MP0005248_abnormal_Harderian_gland0.39806002
92MP0005377_hearing/vestibular/ear_phenot0.38449260
93MP0003878_abnormal_ear_physiology0.38449260
94MP0005409_darkened_coat_color0.38262619
95MP0003123_paternal_imprinting0.37242894
96MP0008872_abnormal_physiological_respon0.37218249
97MP0000579_abnormal_nail_morphology0.35882745
98MP0009672_abnormal_birth_weight0.35521590
99MP0005666_abnormal_adipose_tissue0.35157430
100MP0006082_CNS_inflammation0.34525817
101MP0009384_cardiac_valve_regurgitation0.33684753
102MP0002796_impaired_skin_barrier0.32658348
103MP0009115_abnormal_fat_cell0.31779119
104MP0000249_abnormal_blood_vessel0.31424464
105MP0004883_abnormal_blood_vessel0.31153857
106MP0000230_abnormal_systemic_arterial0.31150521
107MP0002168_other_aberrant_phenotype0.31133929
108MP0002909_abnormal_adrenal_gland0.30338918
109MP0002132_abnormal_respiratory_system0.30112962
110MP0001243_abnormal_dermal_layer0.30036494
111MP0002970_abnormal_white_adipose0.29688259
112MP0009785_altered_susceptibility_to0.29445709
113MP0001853_heart_inflammation0.29357193
114MP0003699_abnormal_female_reproductive0.27793827
115MP0001845_abnormal_inflammatory_respons0.27453418
116MP0001881_abnormal_mammary_gland0.27210127
117MP0000467_abnormal_esophagus_morphology0.27110162
118MP0004272_abnormal_basement_membrane0.26798608
119MP0000678_abnormal_parathyroid_gland0.26130054
120MP0005167_abnormal_blood-brain_barrier0.25911204
121MP0005164_abnormal_response_to0.24897996
122MP0002060_abnormal_skin_morphology0.23270711
123MP0003632_abnormal_nervous_system0.23070297
124MP0005058_abnormal_lysosome_morphology0.22616937
125MP0000920_abnormal_myelination0.22335680
126MP0001944_abnormal_pancreas_morphology0.22112632

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.41083234
2Intrahepatic cholestasis (HP:0001406)7.34596783
3* Abnormality of aromatic amino acid family metabolism (HP:0004338)6.93791044
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71520608
5Prolonged partial thromboplastin time (HP:0003645)6.60568336
6Hypobetalipoproteinemia (HP:0003563)6.40771258
7Xanthomatosis (HP:0000991)6.27430101
8Hyperlipoproteinemia (HP:0010980)5.57417710
9Complement deficiency (HP:0004431)5.45430750
10Joint hemorrhage (HP:0005261)4.83588100
11Hypolipoproteinemia (HP:0010981)4.78189927
12Hyperammonemia (HP:0001987)4.59290503
13Epidermoid cyst (HP:0200040)4.48981581
14Hyperglycinemia (HP:0002154)4.48974659
15Abnormality of the common coagulation pathway (HP:0010990)4.48185484
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.36510253
17Ketosis (HP:0001946)4.28023579
18Abnormality of methionine metabolism (HP:0010901)4.26049228
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.24945724
20Hypoalphalipoproteinemia (HP:0003233)4.19068969
21Fat malabsorption (HP:0002630)4.15760862
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.13859906
23Abnormality of aspartate family amino acid metabolism (HP:0010899)4.11386446
24Abnormality of complement system (HP:0005339)3.97628479
25Hyperglycinuria (HP:0003108)3.95866309
26Abnormality of glycine metabolism (HP:0010895)3.95775945
27Abnormality of serine family amino acid metabolism (HP:0010894)3.95775945
28Hypoglycemic coma (HP:0001325)3.88043890
29Abnormality of pyrimidine metabolism (HP:0004353)3.83964483
30Abnormality of the intrinsic pathway (HP:0010989)3.78368183
31Conjugated hyperbilirubinemia (HP:0002908)3.76743979
32Hypercholesterolemia (HP:0003124)3.60685192
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.37431154
34Abnormality of fatty-acid metabolism (HP:0004359)3.34798064
35Hyperbilirubinemia (HP:0002904)3.34178994
36Steatorrhea (HP:0002570)3.15744113
37Delayed CNS myelination (HP:0002188)3.12832648
38Spontaneous abortion (HP:0005268)3.12443953
39Abnormality of serum amino acid levels (HP:0003112)3.08965608
40Abnormality of nucleobase metabolism (HP:0010932)3.07343181
41Myocardial infarction (HP:0001658)3.03873661
42Ketoacidosis (HP:0001993)3.02066269
43Hypochromic microcytic anemia (HP:0004840)3.01753276
44Hepatocellular carcinoma (HP:0001402)3.00807256
45Purpura (HP:0000979)2.90391508
46Systemic lupus erythematosus (HP:0002725)2.79560623
47Metabolic acidosis (HP:0001942)2.77454774
48Skin nodule (HP:0200036)2.75845607
49Abnormality of purine metabolism (HP:0004352)2.69032530
50Vascular calcification (HP:0004934)2.64159596
51Lethargy (HP:0001254)2.58971916
52Dicarboxylic aciduria (HP:0003215)2.58465894
53Abnormality of dicarboxylic acid metabolism (HP:0010995)2.58465894
54Osteomalacia (HP:0002749)2.58078713
55Acanthocytosis (HP:0001927)2.51526054
56Hypoglycemic seizures (HP:0002173)2.50052035
57Gout (HP:0001997)2.49669166
58Mitral stenosis (HP:0001718)2.49545020
59Abnormal gallbladder morphology (HP:0012437)2.48332024
60Fair hair (HP:0002286)2.48036593
61Spastic diplegia (HP:0001264)2.45706299
62Cholelithiasis (HP:0001081)2.42643301
63Recurrent gram-negative bacterial infections (HP:0005420)2.41355414
64Glomerulonephritis (HP:0000099)2.40113792
65Cerebral edema (HP:0002181)2.39648399
66Neonatal onset (HP:0003623)2.37342959
67Abnormal gallbladder physiology (HP:0012438)2.35291166
68Cholecystitis (HP:0001082)2.35291166
69Malnutrition (HP:0004395)2.34712230
70Irritability (HP:0000737)2.34617260
71Cardiovascular calcification (HP:0011915)2.34106742
72Amyloidosis (HP:0011034)2.32356026
73Pulmonary embolism (HP:0002204)2.25000956
74Gingival bleeding (HP:0000225)2.23411528
75Esophageal varix (HP:0002040)2.18678630
76Sensorimotor neuropathy (HP:0007141)2.17792903
77Enlarged kidneys (HP:0000105)2.14826758
78Menorrhagia (HP:0000132)2.14756521
79Brushfield spots (HP:0001088)2.14489105
80Pancreatitis (HP:0001733)2.13965175
81Late onset (HP:0003584)2.13418469
82Thrombophlebitis (HP:0004418)2.12284570
83Bifid scrotum (HP:0000048)2.09424538
84Vomiting (HP:0002013)2.07926351
85Hemorrhage of the eye (HP:0011885)2.07584503
86Generalized aminoaciduria (HP:0002909)2.06693429
87Opisthotonus (HP:0002179)2.06647554
88Poikilocytosis (HP:0004447)2.03286772
89Neonatal hypoglycemia (HP:0001998)2.03154421
90Abnormality of the gallbladder (HP:0005264)2.02531480
91Hyperinsulinemic hypoglycemia (HP:0000825)2.02305220
92Abnormality of the Achilles tendon (HP:0005109)1.98058833
93Rickets (HP:0002748)1.98046793
94Arthropathy (HP:0003040)1.93721440
95Hypophosphatemic rickets (HP:0004912)1.92703614
96Abnormality of iron homeostasis (HP:0011031)1.91374640
97Renal cortical cysts (HP:0000803)1.88806406
98Abnormality of transition element cation homeostasis (HP:0011030)1.88781852
99Abnormal cartilage morphology (HP:0002763)1.86847156
100Hydroxyprolinuria (HP:0003080)1.85795126
101Abnormality of proline metabolism (HP:0010907)1.85795126
102Abnormal enzyme/coenzyme activity (HP:0012379)1.82575847
103Elevated hepatic transaminases (HP:0002910)1.82405620
104Alkalosis (HP:0001948)1.81340688
105Status epilepticus (HP:0002133)1.80895185
106Epistaxis (HP:0000421)1.76484865
107Hyperglycemia (HP:0003074)1.74053710
108Elevated alkaline phosphatase (HP:0003155)1.74052451
109Hyperphosphaturia (HP:0003109)1.73854575
110Gangrene (HP:0100758)1.73405675
111Abnormality of vitamin metabolism (HP:0100508)1.72365038
112Joint swelling (HP:0001386)1.72265730
113Nephritis (HP:0000123)1.71607549
114Increased serum pyruvate (HP:0003542)1.67881006
115Reduced antithrombin III activity (HP:0001976)1.67814917
116Increased serum ferritin (HP:0003281)1.66731841
117Abnormality of alkaline phosphatase activity (HP:0004379)1.64407594
118Reticulocytosis (HP:0001923)1.63433693
119Abnormal tarsal ossification (HP:0008369)1.61683016
120Increased mean platelet volume (HP:0011877)1.61531644
121Generalized hypopigmentation of hair (HP:0011358)1.59717474
122Potter facies (HP:0002009)1.59247416
123Facial shape deformation (HP:0011334)1.59247416
124Glycosuria (HP:0003076)1.56217696
125Abnormality of urine glucose concentration (HP:0011016)1.56217696
126Abnormal delivery (HP:0001787)1.54605018
127Abnormality of carpal bone ossification (HP:0006257)1.54411517
128Blue irides (HP:0000635)1.53255978

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.06875205
2FGFR44.72265384
3SIK14.62810673
4ERN14.52292545
5TAOK33.14364593
6INSRR3.10871355
7ERBB43.00992511
8MAP2K42.32504177
9CDK122.14353009
10PKN22.08714900
11NTRK32.07045739
12MST1R2.03441516
13MAPK111.91807881
14WNK41.86772650
15PIK3CG1.85531555
16FLT31.84031339
17TYK21.71646047
18TRIB31.71374705
19LATS11.62860940
20DAPK21.57553075
21PDGFRA1.51011887
22PTK61.48547811
23NEK91.43931508
24ABL21.43836895
25FGFR11.39786319
26FGFR21.34589241
27TYRO31.33615390
28FRK1.29656017
29KDR1.27958465
30AKT31.23864749
31JAK21.22822271
32MAP3K71.22075285
33MAP3K21.17168544
34PINK11.14646780
35MAP2K31.11234670
36PRKAA21.11065665
37MAPK151.08967321
38TBK11.05083489
39ERBB21.04966635
40GRK61.04642655
41JAK11.03022973
42MAP3K141.02985247
43SIK21.02705267
44MAP3K100.97480038
45MAPK40.95448821
46PRPF4B0.93123278
47PIM20.92894539
48STK38L0.92361317
49PRKCZ0.91438150
50MAP3K30.86396982
51EPHB10.85554664
52EPHA20.84196479
53TIE10.81149674
54MET0.81091810
55CDK60.80689328
56MAPK120.79097754
57EPHA30.78535114
58MAP3K110.76433039
59SGK10.74123219
60PRKACG0.73595035
61DYRK1B0.72784800
62STK380.72512549
63CAMK2G0.71500415
64CSK0.71111518
65CSNK1E0.70595982
66PRKG10.69624981
67IRAK30.68632481
68GSK3A0.67704934
69MAP2K60.67433396
70WNK10.67090780
71CAMK1D0.66480173
72SGK30.65777639
73EEF2K0.65134690
74PRKAA10.64706798
75DDR20.64177653
76TGFBR20.60676726
77RIPK10.59633606
78SMG10.59017031
79MAPK70.57801925
80FGFR30.57222605
81PTK20.56647450
82CSNK1D0.55702771
83IKBKE0.55266829
84CDK70.55231088
85CSF1R0.53240433
86PRKACA0.52319520
87MAPKAPK30.51925396
88KSR20.51168277
89PRKCQ0.50964597
90SGK20.50783108
91TAOK20.50359810
92PDPK10.49859369
93CSNK1G10.47809655
94GRK10.47632354
95EPHA40.47251174
96RPS6KA30.46871577
97RPS6KB10.46515348
98MAP3K90.45587766
99SRC0.45234008
100PKN10.45196565
101MAP3K50.45043943
102CDC42BPA0.42888476
103IGF1R0.42630631
104PDK20.42528700
105MAP3K130.41387959
106NLK0.41380781
107CDK40.41017515
108MARK20.40279944
109MAP2K10.39214537
110CDK90.38943490
111PRKCG0.38465467
112RET0.37872698
113ARAF0.37466823
114MAP3K60.36999009
115SGK4940.36225489
116SGK2230.36225489
117CSNK2A10.36136111
118ICK0.36118683
119MTOR0.34166059
120CSNK2A20.33843887
121CAMK40.33645177
122EGFR0.32855828
123PBK0.31920341
124MAP3K10.30795166
125MAPK30.30613209
126ZAP700.29313821
127EIF2AK10.29230766
128PRKACB0.29119331
129PRKCB0.29017321
130PDK10.28561442
131CSNK1G20.27515626
132MAPK100.26980445
133MAPK10.26799025
134IRAK10.26372662
135PRKCA0.25368480
136LATS20.24193740
137CSNK1G30.24115611
138IRAK20.23546845
139CAMK1G0.23373787
140ABL10.21573723
141PAK30.21155336
142CSNK1A1L0.19901980
143MAP2K20.19250389
144PIK3CA0.18017363

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.57156997
2Nitrogen metabolism_Homo sapiens_hsa009103.52261527
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.37012547
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.35674177
5Arginine biosynthesis_Homo sapiens_hsa002203.07102439
6Complement and coagulation cascades_Homo sapiens_hsa046102.79038696
7Tryptophan metabolism_Homo sapiens_hsa003802.72433966
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.69449845
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.64729100
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.57118439
11Fatty acid degradation_Homo sapiens_hsa000712.50158181
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.39336793
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.27655184
14Butanoate metabolism_Homo sapiens_hsa006502.17351182
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.14829528
16Peroxisome_Homo sapiens_hsa041462.10073521
17Chemical carcinogenesis_Homo sapiens_hsa052041.95711243
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.93880173
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.92957993
20Propanoate metabolism_Homo sapiens_hsa006401.91780454
21PPAR signaling pathway_Homo sapiens_hsa033201.86228323
22Fatty acid metabolism_Homo sapiens_hsa012121.80394021
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.78360506
24Staphylococcus aureus infection_Homo sapiens_hsa051501.77068595
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74472239
26Caffeine metabolism_Homo sapiens_hsa002321.73361670
27Retinol metabolism_Homo sapiens_hsa008301.72974787
28beta-Alanine metabolism_Homo sapiens_hsa004101.71571501
29* Histidine metabolism_Homo sapiens_hsa003401.69868250
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65516263
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.61806419
32Selenocompound metabolism_Homo sapiens_hsa004501.61128427
33Phenylalanine metabolism_Homo sapiens_hsa003601.56517336
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.52047817
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49989168
36Bile secretion_Homo sapiens_hsa049761.49253217
37Tyrosine metabolism_Homo sapiens_hsa003501.47151787
38Pyruvate metabolism_Homo sapiens_hsa006201.36516766
39Sulfur metabolism_Homo sapiens_hsa009201.35097717
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.32940960
41Fatty acid elongation_Homo sapiens_hsa000621.31981827
42Starch and sucrose metabolism_Homo sapiens_hsa005001.27917707
43Folate biosynthesis_Homo sapiens_hsa007901.22528330
44ABC transporters_Homo sapiens_hsa020101.21754622
45Biosynthesis of amino acids_Homo sapiens_hsa012301.19554061
46Steroid biosynthesis_Homo sapiens_hsa001001.19518218
47Fat digestion and absorption_Homo sapiens_hsa049751.14818218
48Carbon metabolism_Homo sapiens_hsa012001.11621434
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05553752
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.03099922
51Vitamin B6 metabolism_Homo sapiens_hsa007501.02281505
52Cyanoamino acid metabolism_Homo sapiens_hsa004601.01674701
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.98628350
54Arginine and proline metabolism_Homo sapiens_hsa003300.96831163
55Sulfur relay system_Homo sapiens_hsa041220.96131226
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88201600
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85582531
58Vitamin digestion and absorption_Homo sapiens_hsa049770.85220322
59Lysine degradation_Homo sapiens_hsa003100.82242954
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69998313
61Glycerolipid metabolism_Homo sapiens_hsa005610.67054151
62Glutathione metabolism_Homo sapiens_hsa004800.66008487
63Pentose phosphate pathway_Homo sapiens_hsa000300.54987035
64Fatty acid biosynthesis_Homo sapiens_hsa000610.52617938
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45674358
66* Metabolic pathways_Homo sapiens_hsa011000.45647937
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.41961406
68Pertussis_Homo sapiens_hsa051330.41283590
69* One carbon pool by folate_Homo sapiens_hsa006700.40127282
70Prion diseases_Homo sapiens_hsa050200.38763615
71Other glycan degradation_Homo sapiens_hsa005110.38531969
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26563298
73Galactose metabolism_Homo sapiens_hsa000520.26359591
74Insulin resistance_Homo sapiens_hsa049310.23628640
75Fructose and mannose metabolism_Homo sapiens_hsa000510.22879170
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.21682323
77Linoleic acid metabolism_Homo sapiens_hsa005910.21378930
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17866502
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.15907955
80Mineral absorption_Homo sapiens_hsa049780.11317478
81Glucagon signaling pathway_Homo sapiens_hsa049220.10213231
82AMPK signaling pathway_Homo sapiens_hsa041520.01432680
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2415515
84Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2377606
85Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2348380
86FoxO signaling pathway_Homo sapiens_hsa04068-0.2344580
87Amoebiasis_Homo sapiens_hsa05146-0.2328413
88Bladder cancer_Homo sapiens_hsa05219-0.2295529
89Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2247684
90Renin-angiotensin system_Homo sapiens_hsa04614-0.2076513
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1999639
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1943620
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1928890
94Hepatitis C_Homo sapiens_hsa05160-0.1680743
95Serotonergic synapse_Homo sapiens_hsa04726-0.1649972
96Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1549612
97Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1518944
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1465549
99Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1374111
100African trypanosomiasis_Homo sapiens_hsa05143-0.1370327
101Regulation of autophagy_Homo sapiens_hsa04140-0.1286085
102Circadian rhythm_Homo sapiens_hsa04710-0.1161829
103Insulin signaling pathway_Homo sapiens_hsa04910-0.1024872
104Sphingolipid metabolism_Homo sapiens_hsa00600-0.0881267
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0805199
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0786886
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0572929
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0438662
109N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0356826

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