SHMT1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)7.86954537
2epoxygenase P450 pathway (GO:0019373)6.83239490
3omega-hydroxylase P450 pathway (GO:0097267)6.46590747
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.44388810
5L-phenylalanine catabolic process (GO:0006559)6.44388810
6L-phenylalanine metabolic process (GO:0006558)6.32400180
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.32400180
8aromatic amino acid family catabolic process (GO:0009074)5.93055412
9indole-containing compound catabolic process (GO:0042436)5.48621892
10indolalkylamine catabolic process (GO:0046218)5.48621892
11tryptophan catabolic process (GO:0006569)5.48621892
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.42895479
13kynurenine metabolic process (GO:0070189)5.39632326
14drug metabolic process (GO:0017144)5.39197804
15oxidative demethylation (GO:0070989)5.32978378
16glyoxylate metabolic process (GO:0046487)5.29746190
17* glycine metabolic process (GO:0006544)5.27467582
18tryptophan metabolic process (GO:0006568)5.18114827
19bile acid biosynthetic process (GO:0006699)5.10100411
20urea metabolic process (GO:0019627)5.09833801
21urea cycle (GO:0000050)5.09833801
22cysteine metabolic process (GO:0006534)4.96059086
23* serine family amino acid catabolic process (GO:0009071)4.95659895
24negative regulation of fibrinolysis (GO:0051918)4.83715000
25sulfur amino acid catabolic process (GO:0000098)4.77816327
26alpha-linolenic acid metabolic process (GO:0036109)4.74396461
27phenylpropanoid metabolic process (GO:0009698)4.70138048
28nitrogen cycle metabolic process (GO:0071941)4.68581144
29high-density lipoprotein particle remodeling (GO:0034375)4.68003662
30* serine family amino acid biosynthetic process (GO:0009070)4.61825338
31* serine family amino acid metabolic process (GO:0009069)4.59741337
32regulation of fibrinolysis (GO:0051917)4.59443073
33homocysteine metabolic process (GO:0050667)4.50064976
34regulation of protein activation cascade (GO:2000257)4.47686771
35protein carboxylation (GO:0018214)4.46672740
36peptidyl-glutamic acid carboxylation (GO:0017187)4.46672740
37imidazole-containing compound metabolic process (GO:0052803)4.41918506
38aromatic amino acid family metabolic process (GO:0009072)4.40732127
39bile acid metabolic process (GO:0008206)4.37905230
40complement activation, alternative pathway (GO:0006957)4.30893029
41ethanol metabolic process (GO:0006067)4.25646918
42lysine catabolic process (GO:0006554)4.23206576
43lysine metabolic process (GO:0006553)4.23206576
44* alpha-amino acid catabolic process (GO:1901606)4.22134323
45negative regulation of cholesterol transport (GO:0032375)4.20191153
46negative regulation of sterol transport (GO:0032372)4.20191153
47polyketide metabolic process (GO:0030638)4.18640535
48doxorubicin metabolic process (GO:0044598)4.18640535
49daunorubicin metabolic process (GO:0044597)4.18640535
50regulation of complement activation (GO:0030449)4.14425445
51regulation of cholesterol esterification (GO:0010872)4.14089802
52fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.13081001
53regulation of plasminogen activation (GO:0010755)4.12289702
54S-adenosylmethionine metabolic process (GO:0046500)4.11547468
55regulation of triglyceride catabolic process (GO:0010896)4.05223919
56* amino-acid betaine metabolic process (GO:0006577)4.02399263
57plasma lipoprotein particle remodeling (GO:0034369)4.00605987
58protein-lipid complex remodeling (GO:0034368)4.00605987
59macromolecular complex remodeling (GO:0034367)4.00605987
60aminoglycoside antibiotic metabolic process (GO:0030647)3.99846336
61tyrosine metabolic process (GO:0006570)3.97875195
62reverse cholesterol transport (GO:0043691)3.97241467
63triglyceride homeostasis (GO:0070328)3.95017481
64acylglycerol homeostasis (GO:0055090)3.95017481
65ethanol oxidation (GO:0006069)3.90334431
66* cellular amino acid catabolic process (GO:0009063)3.85822080
67indolalkylamine metabolic process (GO:0006586)3.84478053
68amine catabolic process (GO:0009310)3.81057919
69cellular biogenic amine catabolic process (GO:0042402)3.81057919
70aldehyde catabolic process (GO:0046185)3.80040056
71bile acid and bile salt transport (GO:0015721)3.79702465
72flavonoid metabolic process (GO:0009812)3.79310892
73phospholipid efflux (GO:0033700)3.73235062
74negative regulation of blood coagulation (GO:0030195)3.72588339
75negative regulation of hemostasis (GO:1900047)3.72588339
76protein activation cascade (GO:0072376)3.68833928
77cellular ketone body metabolic process (GO:0046950)3.65287654
78amino acid salvage (GO:0043102)3.64794362
79L-methionine salvage (GO:0071267)3.64794362
80L-methionine biosynthetic process (GO:0071265)3.64794362
81oxaloacetate metabolic process (GO:0006107)3.64404310
82plasma lipoprotein particle clearance (GO:0034381)3.60934027
83cellular glucuronidation (GO:0052695)3.58808122
84benzene-containing compound metabolic process (GO:0042537)3.57182205
85proline metabolic process (GO:0006560)3.56567645
86glutamate metabolic process (GO:0006536)3.55085867
87coenzyme catabolic process (GO:0009109)3.53715693
88primary alcohol catabolic process (GO:0034310)3.50869770
89cellular modified amino acid catabolic process (GO:0042219)3.50094129
90response to mercury ion (GO:0046689)3.48730884
91* L-serine metabolic process (GO:0006563)3.47809883
92arginine metabolic process (GO:0006525)3.46741007
93alkaloid metabolic process (GO:0009820)3.46212181
94complement activation (GO:0006956)3.45475995
95acute-phase response (GO:0006953)3.44608547
96folic acid-containing compound biosynthetic process (GO:0009396)3.43899757
97blood coagulation, intrinsic pathway (GO:0007597)3.43278208
98negative regulation of coagulation (GO:0050819)3.42585745
99hormone catabolic process (GO:0042447)3.42278275
100heme transport (GO:0015886)3.40695965
101plasma lipoprotein particle assembly (GO:0034377)3.39944367
102dicarboxylic acid biosynthetic process (GO:0043650)3.39579735
103negative regulation of fatty acid biosynthetic process (GO:0045717)3.38598267
104* one-carbon metabolic process (GO:0006730)3.38522573
105response to nitrosative stress (GO:0051409)3.38107216
106intestinal cholesterol absorption (GO:0030299)3.36978124
107low-density lipoprotein particle remodeling (GO:0034374)3.36381443
108NAD biosynthetic process (GO:0009435)3.35870248
109drug catabolic process (GO:0042737)3.35020088
110fat-soluble vitamin biosynthetic process (GO:0042362)3.34575182
111pyridine nucleotide biosynthetic process (GO:0019363)3.34499019
112nicotinamide nucleotide biosynthetic process (GO:0019359)3.34499019
113* carboxylic acid catabolic process (GO:0046395)3.31855205
114* organic acid catabolic process (GO:0016054)3.31855205
115negative regulation of wound healing (GO:0061045)3.31108888
116cholesterol efflux (GO:0033344)3.30474241
117* tetrahydrofolate metabolic process (GO:0046653)3.29501414
118cholesterol homeostasis (GO:0042632)3.26217584
119positive regulation of triglyceride lipase activity (GO:0061365)3.25492437
120positive regulation of lipoprotein lipase activity (GO:0051006)3.25492437
121negative regulation of lipase activity (GO:0060192)3.24449852
122fibrinolysis (GO:0042730)3.23966243
123very-low-density lipoprotein particle assembly (GO:0034379)3.22059040
124regulation of humoral immune response (GO:0002920)3.21623733
125sterol homeostasis (GO:0055092)3.20860734
126urate metabolic process (GO:0046415)3.18757668
127acetyl-CoA metabolic process (GO:0006084)3.18158131
128regulation of bile acid biosynthetic process (GO:0070857)3.16450169
129negative regulation of protein activation cascade (GO:2000258)3.13729312
130ketone body metabolic process (GO:1902224)3.13346790
131monocarboxylic acid catabolic process (GO:0072329)3.13247373
132regulation of lipoprotein particle clearance (GO:0010984)3.12539135
133xenobiotic metabolic process (GO:0006805)3.10746048
134complement activation, classical pathway (GO:0006958)3.10469928
135cofactor catabolic process (GO:0051187)3.08317695
136glucuronate metabolic process (GO:0019585)3.07888642
137uronic acid metabolic process (GO:0006063)3.07888642
138cytolysis (GO:0019835)3.06887268
139biotin metabolic process (GO:0006768)3.06134619
140drug transmembrane transport (GO:0006855)3.06117209
1412-oxoglutarate metabolic process (GO:0006103)3.05983321
142aspartate family amino acid catabolic process (GO:0009068)3.05680668

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.02176778
2E2F7_22180533_ChIP-Seq_HELA_Human5.61132393
3* RXR_22158963_ChIP-Seq_LIVER_Mouse5.41889197
4* EGR1_23403033_ChIP-Seq_LIVER_Mouse4.86163943
5* PPARA_22158963_ChIP-Seq_LIVER_Mouse4.85804693
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.04183149
7* LXR_22158963_ChIP-Seq_LIVER_Mouse3.94158981
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.42109973
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.36003112
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.08095654
11* MYC_18555785_ChIP-Seq_MESCs_Mouse2.92441529
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.61394407
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.16826868
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.05950215
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.02508310
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.02381053
17FOXM1_23109430_ChIP-Seq_U2OS_Human2.02054838
18* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.01736946
19HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.92981523
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.91571123
21* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.91470613
22* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.82420505
23AR_21909140_ChIP-Seq_LNCAP_Human1.80711376
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.77843875
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.74160315
26STAT3_1855785_ChIP-Seq_MESCs_Mouse1.66474013
27EST1_17652178_ChIP-ChIP_JURKAT_Human1.66438252
28NELFA_20434984_ChIP-Seq_ESCs_Mouse1.56187958
29ETS1_20019798_ChIP-Seq_JURKAT_Human1.53867697
30* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.52908994
31TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.48743277
32GABP_17652178_ChIP-ChIP_JURKAT_Human1.48095280
33POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.40347482
34ESR1_15608294_ChIP-ChIP_MCF-7_Human1.40235630
35XRN2_22483619_ChIP-Seq_HELA_Human1.40036981
36ELF1_17652178_ChIP-ChIP_JURKAT_Human1.33797282
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.29099380
38DCP1A_22483619_ChIP-Seq_HELA_Human1.26104566
39CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.25682845
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.24295015
41TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.23773528
42MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23252475
43FOXP3_21729870_ChIP-Seq_TREG_Human1.23047329
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.22816984
45E2F1_21310950_ChIP-Seq_MCF-7_Human1.22708949
46PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.17548727
47HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.16236737
48* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.13683128
49VDR_23849224_ChIP-Seq_CD4+_Human1.13061945
50* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11468993
51CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.10143184
52GABP_19822575_ChIP-Seq_HepG2_Human1.10019085
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.08598548
54PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07433134
55RXRA_24833708_ChIP-Seq_LIVER_Mouse1.05766984
56KDM5A_27292631_Chip-Seq_BREAST_Human1.05658886
57CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.05098953
58* SRF_21415370_ChIP-Seq_HL-1_Mouse1.04910617
59STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.04424430
60SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.02190427
61* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.01683395
62* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99602822
63SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.97240834
64MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97054688
65ZNF263_19887448_ChIP-Seq_K562_Human0.96510831
66TCF3_18692474_ChIP-Seq_MEFs_Mouse0.95495004
67ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.95242178
68POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.94736221
69DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.94437977
70HNF4A_19822575_ChIP-Seq_HepG2_Human0.92275199
71GATA6_25053715_ChIP-Seq_YYC3_Human0.92142746
72CLOCK_20551151_ChIP-Seq_293T_Human0.91821663
73NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.91712864
74PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.91579212
75SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.91249426
76KLF4_18555785_ChIP-Seq_MESCs_Mouse0.86716098
77* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.86223940
78YY1_21170310_ChIP-Seq_MESCs_Mouse0.85043189
79PADI4_21655091_ChIP-ChIP_MCF-7_Human0.84813285
80SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84628002
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.84059631
82HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.83570219
83* SOX17_20123909_ChIP-Seq_XEN_Mouse0.82606476
84TET1_21451524_ChIP-Seq_MESCs_Mouse0.82271312
85GATA1_22025678_ChIP-Seq_K562_Human0.82241264
86KAP1_22055183_ChIP-Seq_ESCs_Mouse0.81722114
87* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.81573333
88OCT4_18692474_ChIP-Seq_MEFs_Mouse0.81417599
89SOX2_18555785_ChIP-Seq_MESCs_Mouse0.80320094
90SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.79959145
91TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.78793275
92HOXB4_20404135_ChIP-ChIP_EML_Mouse0.78452637
93ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78442173
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77794007
95FOXA2_19822575_ChIP-Seq_HepG2_Human0.77635985
96THAP11_20581084_ChIP-Seq_MESCs_Mouse0.77608442
97TTF2_22483619_ChIP-Seq_HELA_Human0.76658097
98MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.76610293
99IRF1_19129219_ChIP-ChIP_H3396_Human0.76015306
100MYC_22102868_ChIP-Seq_BL_Human0.75717980
101BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.75287756
102FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.74959705
103* HTT_18923047_ChIP-ChIP_STHdh_Human0.74422854
104RARA_24833708_ChIP-Seq_LIVER_Mouse0.74349345
105KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.74233827
106KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.74233827
107KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.74233827
108TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.74223794
109SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.73856179
110YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.73749431
111CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.73694538
112TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.72825573
113CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.72572350
114SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.71965368
115MYC_18940864_ChIP-ChIP_HL60_Human0.70945304
116RARB_24833708_ChIP-Seq_LIVER_Mouse0.70199376
117TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.69508666
118ERG_20887958_ChIP-Seq_HPC-7_Mouse0.68898037

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.45701870
2MP0005360_urolithiasis6.85586054
3MP0005085_abnormal_gallbladder_physiolo5.78965540
4MP0005365_abnormal_bile_salt5.51222850
5MP0003806_abnormal_nucleotide_metabolis5.10766672
6MP0008875_abnormal_xenobiotic_pharmacok4.39413144
7MP0003252_abnormal_bile_duct3.33421358
8MP0010329_abnormal_lipoprotein_level3.02249423
9MP0009840_abnormal_foam_cell2.96151113
10MP0005083_abnormal_biliary_tract2.68413657
11* MP0005332_abnormal_amino_acid2.47182684
12MP0001666_abnormal_nutrient_absorption2.25967456
13MP0003195_calcinosis2.24698855
14MP0004019_abnormal_vitamin_homeostasis2.06331139
15* MP0000609_abnormal_liver_physiology1.99428053
16MP0003191_abnormal_cellular_cholesterol1.85270625
17MP0001764_abnormal_homeostasis1.81568912
18MP0002876_abnormal_thyroid_physiology1.80626461
19MP0005319_abnormal_enzyme/_coenzyme1.76467478
20MP0003186_abnormal_redox_activity1.70209173
21MP0002138_abnormal_hepatobiliary_system1.66710537
22MP0009697_abnormal_copulation1.66028038
23MP0002118_abnormal_lipid_homeostasis1.65431348
24MP0003693_abnormal_embryo_hatching1.54697233
25MP0005451_abnormal_body_composition1.54175569
26MP0003868_abnormal_feces_composition1.47006041
27MP0010094_abnormal_chromosome_stability1.34458965
28MP0000598_abnormal_liver_morphology1.29372919
29MP0004957_abnormal_blastocyst_morpholog1.29191513
30MP0003705_abnormal_hypodermis_morpholog1.28009083
31MP0005584_abnormal_enzyme/coenzyme_acti1.27238763
32MP0003111_abnormal_nucleus_morphology1.26446881
33MP0008057_abnormal_DNA_replication1.25581599
34MP0003718_maternal_effect1.25010127
35MP0003011_delayed_dark_adaptation1.17310841
36MP0009643_abnormal_urine_homeostasis1.16525160
37MP0005647_abnormal_sex_gland1.14937474
38MP0006036_abnormal_mitochondrial_physio1.11448822
39MP0003077_abnormal_cell_cycle1.02174275
40MP0009763_increased_sensitivity_to1.01538167
41MP0009053_abnormal_anal_canal0.97952770
42MP0008058_abnormal_DNA_repair0.96628983
43MP0005266_abnormal_metabolism0.96282531
44MP0003656_abnormal_erythrocyte_physiolo0.90238004
45MP0005666_abnormal_adipose_tissue0.88979042
46MP0005408_hypopigmentation0.87035374
47MP0006035_abnormal_mitochondrial_morpho0.86708337
48MP0005376_homeostasis/metabolism_phenot0.85992782
49MP0004233_abnormal_muscle_weight0.84334767
50MP0009765_abnormal_xenobiotic_induced0.81696260
51MP0008469_abnormal_protein_level0.80925812
52MP0002254_reproductive_system_inflammat0.80374237
53MP0005636_abnormal_mineral_homeostasis0.77617392
54MP0001730_embryonic_growth_arrest0.77023789
55MP0001881_abnormal_mammary_gland0.76657483
56MP0009764_decreased_sensitivity_to0.74425056
57MP0009672_abnormal_birth_weight0.72687806
58* MP0009642_abnormal_blood_homeostasis0.71490582
59MP0002132_abnormal_respiratory_system0.70910860
60MP0005220_abnormal_exocrine_pancreas0.66334192
61MP0004185_abnormal_adipocyte_glucose0.65799098
62MP0001853_heart_inflammation0.65605404
63MP0005395_other_phenotype0.65347547
64MP0010352_gastrointestinal_tract_polyps0.64845197
65MP0004264_abnormal_extraembryonic_tissu0.64282475
66MP0002249_abnormal_larynx_morphology0.64227677
67MP0005058_abnormal_lysosome_morphology0.63483899
68MP0001661_extended_life_span0.63302938
69MP0004043_abnormal_pH_regulation0.61697380
70MP0005670_abnormal_white_adipose0.60137982
71MP0000372_irregular_coat_pigmentation0.59982581
72MP0010368_abnormal_lymphatic_system0.56776174
73MP0000566_synostosis0.56657250
74MP0005501_abnormal_skin_physiology0.55930978
75MP0008873_increased_physiological_sensi0.55379033
76MP0001672_abnormal_embryogenesis/_devel0.54796831
77MP0005380_embryogenesis_phenotype0.54796831
78MP0009115_abnormal_fat_cell0.53936893
79MP0001756_abnormal_urination0.53007476
80MP0008007_abnormal_cellular_replicative0.51968723
81MP0002396_abnormal_hematopoietic_system0.51502436
82MP0002019_abnormal_tumor_incidence0.51496963
83MP0005375_adipose_tissue_phenotype0.50939107
84MP0003890_abnormal_embryonic-extraembry0.50065889
85MP0003959_abnormal_lean_body0.49271668
86MP0002086_abnormal_extraembryonic_tissu0.48979068
87MP0005084_abnormal_gallbladder_morpholo0.48917427
88MP0002136_abnormal_kidney_physiology0.48659577
89MP0003786_premature_aging0.48657896
90MP0005187_abnormal_penis_morphology0.48438498
91MP0000350_abnormal_cell_proliferation0.48399224
92MP0002088_abnormal_embryonic_growth/wei0.48268379
93MP0008932_abnormal_embryonic_tissue0.47824513
94MP0000467_abnormal_esophagus_morphology0.47563374
95MP0003984_embryonic_growth_retardation0.47363962
96MP0008872_abnormal_physiological_respon0.47224466
97MP0005464_abnormal_platelet_physiology0.45830565
98MP0002078_abnormal_glucose_homeostasis0.45825627
99MP0001119_abnormal_female_reproductive0.45754505
100MP0005023_abnormal_wound_healing0.45173355
101MP0010307_abnormal_tumor_latency0.45136457
102MP0004197_abnormal_fetal_growth/weight/0.43939530
103MP0002796_impaired_skin_barrier0.43643320
104MP0002080_prenatal_lethality0.43485346
105MP0001243_abnormal_dermal_layer0.43045282
106MP0001915_intracranial_hemorrhage0.42922071
107MP0003436_decreased_susceptibility_to0.42915584
108MP0002877_abnormal_melanocyte_morpholog0.42687894
109MP0005535_abnormal_body_temperature0.42558831
110MP0002697_abnormal_eye_size0.42361914
111MP0004782_abnormal_surfactant_physiolog0.42323994
112MP0003699_abnormal_female_reproductive0.41439293
113MP0002971_abnormal_brown_adipose0.41388364
114MP0000604_amyloidosis0.41383952
115MP0005334_abnormal_fat_pad0.41001592
116MP0003638_abnormal_response/metabolism_0.40699691
117MP0001697_abnormal_embryo_size0.39918615
118MP0004381_abnormal_hair_follicle0.39466345
119MP0005330_cardiomyopathy0.38690703
120MP0005075_abnormal_melanosome_morpholog0.38675288
121MP0002970_abnormal_white_adipose0.38519322
122MP0000003_abnormal_adipose_tissue0.36138431
123MP0000639_abnormal_adrenal_gland0.35852159
124MP0003941_abnormal_skin_development0.34750644
125MP0002168_other_aberrant_phenotype0.34143297

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.91064891
2Abnormality of monocarboxylic acid metabolism (HP:0010996)6.69892842
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.63613497
4Hypobetalipoproteinemia (HP:0003563)6.48954241
5Deep venous thrombosis (HP:0002625)6.35636169
6Prolonged partial thromboplastin time (HP:0003645)5.79551039
7Xanthomatosis (HP:0000991)5.38779371
8Abnormality of pyrimidine metabolism (HP:0004353)5.01251490
9Hyperglycinemia (HP:0002154)4.78619874
10Hyperammonemia (HP:0001987)4.65204596
11Hypolipoproteinemia (HP:0010981)4.59263565
12Hyperlipoproteinemia (HP:0010980)4.58471327
13Abnormality of methionine metabolism (HP:0010901)4.45172882
14Abnormality of sulfur amino acid metabolism (HP:0004339)4.34997649
15Hyperglycinuria (HP:0003108)4.34410330
16Complement deficiency (HP:0004431)4.20809885
17Abnormality of serine family amino acid metabolism (HP:0010894)4.19455772
18Abnormality of glycine metabolism (HP:0010895)4.19455772
19Abnormality of aspartate family amino acid metabolism (HP:0010899)4.18633464
20Joint hemorrhage (HP:0005261)4.14232388
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.07789059
22Epidermoid cyst (HP:0200040)3.85514810
23Fat malabsorption (HP:0002630)3.83601939
24Abnormality of glutamine family amino acid metabolism (HP:0010902)3.79404969
25Abnormality of the common coagulation pathway (HP:0010990)3.76808813
26Ketosis (HP:0001946)3.70658250
27Hypoalphalipoproteinemia (HP:0003233)3.67441521
28Hypoglycemic coma (HP:0001325)3.66770063
29Abnormality of serum amino acid levels (HP:0003112)3.43785247
30Reduced antithrombin III activity (HP:0001976)3.38844829
31Abnormality of the intrinsic pathway (HP:0010989)3.33123287
32Abnormality of fatty-acid metabolism (HP:0004359)3.29202808
33Abnormality of nucleobase metabolism (HP:0010932)3.24366913
34Delayed CNS myelination (HP:0002188)3.23687212
35Abnormality of complement system (HP:0005339)3.21952496
36Conjugated hyperbilirubinemia (HP:0002908)3.18912665
37Abnormality of glycolysis (HP:0004366)3.17646921
38Hypercholesterolemia (HP:0003124)3.16620231
39Increased serum pyruvate (HP:0003542)3.16174607
40Hyperbilirubinemia (HP:0002904)3.11379660
41Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.08038772
42Hypochromic microcytic anemia (HP:0004840)3.00886206
43Steatorrhea (HP:0002570)2.95952961
44Spastic diplegia (HP:0001264)2.84987905
45Hepatocellular carcinoma (HP:0001402)2.82753868
46Abnormality of dicarboxylic acid metabolism (HP:0010995)2.78543090
47Dicarboxylic aciduria (HP:0003215)2.78543090
48Nephritis (HP:0000123)2.75796392
49Lethargy (HP:0001254)2.75574178
50Spontaneous abortion (HP:0005268)2.66579146
51Metabolic acidosis (HP:0001942)2.62372030
52Cerebral edema (HP:0002181)2.51091329
53Hemorrhage of the eye (HP:0011885)2.42283575
54Myocardial infarction (HP:0001658)2.39992387
55Ketoacidosis (HP:0001993)2.38637318
56Hyperphosphaturia (HP:0003109)2.36634516
57Abnormality of purine metabolism (HP:0004352)2.35924625
58Malnutrition (HP:0004395)2.35044391
59Gout (HP:0001997)2.22854295
60Oral leukoplakia (HP:0002745)2.20852159
61Acanthocytosis (HP:0001927)2.20376218
62Chromosomal breakage induced by crosslinking agents (HP:0003221)2.17494469
63Nausea (HP:0002018)2.17295643
64Irritability (HP:0000737)2.16548912
65Vascular calcification (HP:0004934)2.14092500
66Megaloblastic anemia (HP:0001889)2.13106791
67Neonatal onset (HP:0003623)2.09796675
68Skin nodule (HP:0200036)2.09581964
69Abnormal cartilage morphology (HP:0002763)2.07637841
70Generalized aminoaciduria (HP:0002909)2.07201249
71Opisthotonus (HP:0002179)2.06706853
72Abnormality of alanine metabolism (HP:0010916)2.06070928
73Hyperalaninemia (HP:0003348)2.06070928
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.06070928
75Chromsome breakage (HP:0040012)2.03191314
76Hypoglycemic seizures (HP:0002173)2.00596314
77Esophageal varix (HP:0002040)1.98249379
78Proximal tubulopathy (HP:0000114)1.98141134
79Abnormal urine phosphate concentration (HP:0012599)1.97776203
80Osteomalacia (HP:0002749)1.97100736
81Thrombophlebitis (HP:0004418)1.96415776
82Pancreatitis (HP:0001733)1.95407389
83Vomiting (HP:0002013)1.94324086
84Renal cortical cysts (HP:0000803)1.94232952
85Brushfield spots (HP:0001088)1.93442640
86Abnormality of iron homeostasis (HP:0011031)1.92313516
87Poikilocytosis (HP:0004447)1.91607759
88Late onset (HP:0003584)1.91200619
89Abnormality of transition element cation homeostasis (HP:0011030)1.89230357
90Systemic lupus erythematosus (HP:0002725)1.88511139
91Gingival bleeding (HP:0000225)1.86908453
92Abnormality of the gallbladder (HP:0005264)1.85103255
93Bifid scrotum (HP:0000048)1.84863024
94Alkalosis (HP:0001948)1.84820570
95Elevated alkaline phosphatase (HP:0003155)1.84625239
96Cerebral palsy (HP:0100021)1.84331289
97Glomerulonephritis (HP:0000099)1.82277337
98Cholelithiasis (HP:0001081)1.82234488
99Abnormal gallbladder morphology (HP:0012437)1.81892277
100Cardiovascular calcification (HP:0011915)1.81107936
101Hypophosphatemic rickets (HP:0004912)1.80676641
102Acute encephalopathy (HP:0006846)1.80174756
103Rickets (HP:0002748)1.79447242
104Elevated hepatic transaminases (HP:0002910)1.79114339
105Impulsivity (HP:0100710)1.76880736
106Enlarged kidneys (HP:0000105)1.76863945
107Abnormality of vitamin metabolism (HP:0100508)1.76297459
108Abnormal enzyme/coenzyme activity (HP:0012379)1.74252582
109Abnormality of alkaline phosphatase activity (HP:0004379)1.72165800
110Multiple enchondromatosis (HP:0005701)1.71487479
111Abnormality of urine glucose concentration (HP:0011016)1.71442322
112Glycosuria (HP:0003076)1.71442322
113Hyperuricemia (HP:0002149)1.70759669
114Increased purine levels (HP:0004368)1.70759669
115Menorrhagia (HP:0000132)1.69592381
116Abnormal tarsal ossification (HP:0008369)1.69495429
117Abnormality of the Achilles tendon (HP:0005109)1.67424160
118Recurrent gram-negative bacterial infections (HP:0005420)1.67331300
119Upper motor neuron abnormality (HP:0002127)1.66462287
120Neonatal hypoglycemia (HP:0001998)1.65436066
121Hyperinsulinemic hypoglycemia (HP:0000825)1.63769814
122Hypochromic anemia (HP:0001931)1.62821670
123Abnormal gallbladder physiology (HP:0012438)1.61806602
124Cholecystitis (HP:0001082)1.61806602
125Reticulocytosis (HP:0001923)1.61206116
126Pseudobulbar signs (HP:0002200)1.60536841
127Mitral stenosis (HP:0001718)1.59336506
128Birth length less than 3rd percentile (HP:0003561)1.56811684
129Abnormal biliary tract physiology (HP:0012439)1.55950322

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.61925898
2WEE13.32374667
3VRK22.99925887
4PDK22.87538131
5BUB12.68977799
6EIF2AK12.57011246
7CDC72.50509241
8SMG12.40285566
9FGFR42.37910722
10SIK12.14603374
11FLT32.12350943
12ERN12.08961452
13NEK12.04056518
14PKN22.02561368
15TTK2.00950824
16NEK21.91769439
17ACVR1B1.83058762
18SRPK11.67509900
19CDK41.63109602
20NME21.62448360
21ERBB41.60996711
22STK161.57243429
23MAP3K101.52265372
24CDK121.48470064
25TLK11.47711271
26CDK71.47242229
27EPHA21.44289226
28MAP2K31.43721608
29PLK11.41068397
30STK38L1.35605115
31EIF2AK31.35052923
32MAPK111.34309608
33BRSK21.30679636
34PLK41.26624963
35TAOK31.24692623
36LATS11.23547777
37RPS6KB21.23267601
38KDR1.23088668
39TSSK61.21175403
40NEK91.18246519
41AURKB1.17942779
42TESK21.17486925
43WNK31.14307465
44CDK61.13714011
45ATR1.11723511
46MAP3K81.09774587
47ICK1.07620159
48TYK21.06673922
49MUSK1.05207762
50MAP3K111.04783536
51DYRK31.03685282
52NME11.01323429
53STK41.00274183
54PBK0.99247600
55ABL20.98913623
56MAP3K30.95418861
57MST1R0.86777802
58GRK60.86672018
59AURKA0.85907625
60PASK0.85849619
61RPS6KA40.85662085
62TGFBR10.83638827
63IRAK30.82659199
64EEF2K0.81992930
65PIM10.81001132
66TAOK20.80777329
67PIK3CG0.78415885
68ARAF0.77835070
69CHEK10.76749220
70ZAK0.75148096
71STK100.74685046
72VRK10.74258144
73TAF10.73695958
74MAP4K10.72418339
75CHEK20.70933227
76CDK80.70919438
77BRAF0.70411861
78CSNK2A20.67957024
79PIM20.67221070
80PDK30.64963709
81PDK40.64963709
82MAP2K60.64293633
83PLK30.63984621
84CSNK2A10.62428346
85MTOR0.61907670
86OXSR10.60918579
87PTK60.60206245
88DAPK10.59576520
89STK30.59232820
90EIF2AK20.57868490
91ATM0.57800829
92CAMK1D0.56323359
93CDK90.56071402
94SCYL20.55930282
95CDK20.55886021
96MAPKAPK30.55373324
97TRIB30.55011208
98PRKACG0.52957369
99WNK40.52152776
100FER0.50886902
101MAPK40.50104527
102BRSK10.50030762
103MST40.49786875
104MKNK10.48054436
105CSF1R0.46907322
106PAK40.46544336
107AKT30.45431155
108ERBB20.45425331
109MAP2K20.44607648
110JAK20.42745196
111MELK0.41597030
112NUAK10.41446547
113MAP2K40.40723015
114CSNK1G30.40190719
115STK390.39523391
116CSNK1E0.39138544
117AKT20.36776825
118CCNB10.36568565
119CSNK1G10.36421179
120PRKAA10.36127261
121MAP3K50.36091784
122PRKCI0.35896272
123PINK10.34978935
124CDK10.34578851
125PRKAA20.34490214
126DYRK1B0.33108547
127MET0.32603422
128LRRK20.32041392
129PRKDC0.31873222
130CSNK1A1L0.30282572
131TRIM280.29500736
132ILK0.28808878
133LMTK20.26682347

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.91294084
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.17549582
3Nitrogen metabolism_Homo sapiens_hsa009102.99865515
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.95362474
5Arginine biosynthesis_Homo sapiens_hsa002202.69037704
6* Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58607499
7* Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.57469999
8Tryptophan metabolism_Homo sapiens_hsa003802.40165293
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.27669810
10Fatty acid degradation_Homo sapiens_hsa000712.27446413
11Complement and coagulation cascades_Homo sapiens_hsa046102.25739644
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.21611600
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.16490101
14Drug metabolism - other enzymes_Homo sapiens_hsa009832.09909380
15Selenocompound metabolism_Homo sapiens_hsa004501.92719776
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.90159437
17Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.88591457
18Peroxisome_Homo sapiens_hsa041461.87003037
19* One carbon pool by folate_Homo sapiens_hsa006701.84911537
20Propanoate metabolism_Homo sapiens_hsa006401.81045515
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.80765527
22Chemical carcinogenesis_Homo sapiens_hsa052041.78011645
23Butanoate metabolism_Homo sapiens_hsa006501.75820532
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.73468235
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.70837771
26Histidine metabolism_Homo sapiens_hsa003401.67670831
27Cysteine and methionine metabolism_Homo sapiens_hsa002701.66993941
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.66961725
29beta-Alanine metabolism_Homo sapiens_hsa004101.62929361
30Retinol metabolism_Homo sapiens_hsa008301.58078425
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55718550
32Folate biosynthesis_Homo sapiens_hsa007901.54940707
33Fatty acid metabolism_Homo sapiens_hsa012121.53851257
34* Biosynthesis of amino acids_Homo sapiens_hsa012301.53803091
35PPAR signaling pathway_Homo sapiens_hsa033201.48090157
36Phenylalanine metabolism_Homo sapiens_hsa003601.38742060
37Staphylococcus aureus infection_Homo sapiens_hsa051501.36669417
38Pyruvate metabolism_Homo sapiens_hsa006201.36341136
39* Carbon metabolism_Homo sapiens_hsa012001.34460318
40Caffeine metabolism_Homo sapiens_hsa002321.32893069
41DNA replication_Homo sapiens_hsa030301.31485852
42Tyrosine metabolism_Homo sapiens_hsa003501.28289909
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.24480027
44Vitamin B6 metabolism_Homo sapiens_hsa007501.20199850
45Sulfur relay system_Homo sapiens_hsa041221.19826880
46Mismatch repair_Homo sapiens_hsa034301.07835350
47Starch and sucrose metabolism_Homo sapiens_hsa005001.07829836
48Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.06671318
49Bile secretion_Homo sapiens_hsa049761.06668445
50Fatty acid elongation_Homo sapiens_hsa000621.06458691
51Arginine and proline metabolism_Homo sapiens_hsa003301.05137638
52Fat digestion and absorption_Homo sapiens_hsa049751.03429585
53Pentose phosphate pathway_Homo sapiens_hsa000300.98474330
54Glutathione metabolism_Homo sapiens_hsa004800.94300359
55Steroid biosynthesis_Homo sapiens_hsa001000.93916283
56Sulfur metabolism_Homo sapiens_hsa009200.93647254
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.92642949
58Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.91499256
59Lysine degradation_Homo sapiens_hsa003100.90701696
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.90167692
61ABC transporters_Homo sapiens_hsa020100.89290039
62Vitamin digestion and absorption_Homo sapiens_hsa049770.86474156
63Arachidonic acid metabolism_Homo sapiens_hsa005900.82540835
64Pyrimidine metabolism_Homo sapiens_hsa002400.80895427
65Maturity onset diabetes of the young_Homo sapiens_hsa049500.74884352
66Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.74732059
67Base excision repair_Homo sapiens_hsa034100.65193116
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63629245
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62232430
70Homologous recombination_Homo sapiens_hsa034400.61070987
71Proteasome_Homo sapiens_hsa030500.60845117
72Ribosome_Homo sapiens_hsa030100.59050332
73* Cyanoamino acid metabolism_Homo sapiens_hsa004600.58862771
74* Metabolic pathways_Homo sapiens_hsa011000.56165438
75Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.55197462
76Nucleotide excision repair_Homo sapiens_hsa034200.54270010
77Glycerolipid metabolism_Homo sapiens_hsa005610.53835467
78RNA transport_Homo sapiens_hsa030130.53622128
79RNA polymerase_Homo sapiens_hsa030200.51415300
80Fructose and mannose metabolism_Homo sapiens_hsa000510.48063217
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45425241
82Spliceosome_Homo sapiens_hsa030400.44690355
83Galactose metabolism_Homo sapiens_hsa000520.40101798
84Fatty acid biosynthesis_Homo sapiens_hsa000610.35704562
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.35196340
86Systemic lupus erythematosus_Homo sapiens_hsa053220.34747247
87Non-homologous end-joining_Homo sapiens_hsa034500.27736373
88Fanconi anemia pathway_Homo sapiens_hsa034600.26470337
89Cell cycle_Homo sapiens_hsa041100.24510911
90alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22227316
91Linoleic acid metabolism_Homo sapiens_hsa005910.21475252
92RNA degradation_Homo sapiens_hsa030180.18396381
93Purine metabolism_Homo sapiens_hsa002300.17981590
94Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17550728
95N-Glycan biosynthesis_Homo sapiens_hsa005100.13541445
96Renin-angiotensin system_Homo sapiens_hsa046140.10021230
97Glucagon signaling pathway_Homo sapiens_hsa049220.09921278
98Glycosaminoglycan degradation_Homo sapiens_hsa005310.07210633
99AMPK signaling pathway_Homo sapiens_hsa041520.06672054
100p53 signaling pathway_Homo sapiens_hsa041150.06584779
101Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.03323122
102Basal transcription factors_Homo sapiens_hsa030220.03193448
103Insulin resistance_Homo sapiens_hsa049310.03165755
104Prion diseases_Homo sapiens_hsa050200.02255346
105Parkinsons disease_Homo sapiens_hsa050120.01704353
106Glycerophospholipid metabolism_Homo sapiens_hsa005640.01563479
107Oxidative phosphorylation_Homo sapiens_hsa001900.01492618
108Adipocytokine signaling pathway_Homo sapiens_hsa04920-0.0003666

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