UBE4A

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 a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)5.81792121
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.81792121
3L-phenylalanine metabolic process (GO:0006558)5.37852947
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.37852947
5alpha-linolenic acid metabolic process (GO:0036109)5.27552139
6aromatic amino acid family catabolic process (GO:0009074)5.06763815
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.79080620
8kynurenine metabolic process (GO:0070189)4.64342535
9lactate metabolic process (GO:0006089)4.60736834
10urea cycle (GO:0000050)4.52688113
11urea metabolic process (GO:0019627)4.52688113
12bile acid biosynthetic process (GO:0006699)4.49516912
13tryptophan catabolic process (GO:0006569)4.47326828
14indole-containing compound catabolic process (GO:0042436)4.47326828
15indolalkylamine catabolic process (GO:0046218)4.47326828
16regulation of protein glycosylation (GO:0060049)4.39840189
17tryptophan metabolic process (GO:0006568)4.30006453
18cysteine metabolic process (GO:0006534)4.29934587
19mitotic sister chromatid cohesion (GO:0007064)4.28918169
20lysine metabolic process (GO:0006553)4.27143367
21lysine catabolic process (GO:0006554)4.27143367
22complement activation, alternative pathway (GO:0006957)4.26731996
23glyoxylate metabolic process (GO:0046487)4.25217251
24response to pheromone (GO:0019236)4.20899219
25negative regulation of fibrinolysis (GO:0051918)4.19316927
26cellular ketone body metabolic process (GO:0046950)4.16914983
27sulfur amino acid catabolic process (GO:0000098)4.14064865
28high-density lipoprotein particle remodeling (GO:0034375)4.11705121
29regulation of protein activation cascade (GO:2000257)4.11564223
30regulation of hexokinase activity (GO:1903299)4.08499805
31regulation of glucokinase activity (GO:0033131)4.08499805
32protein carboxylation (GO:0018214)4.08286988
33peptidyl-glutamic acid carboxylation (GO:0017187)4.08286988
34fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.08017612
35pyrimidine nucleobase catabolic process (GO:0006208)4.07593218
36nitrogen cycle metabolic process (GO:0071941)4.06962341
37dicarboxylic acid biosynthetic process (GO:0043650)4.05554550
38regulation of fibrinolysis (GO:0051917)3.95129461
39positive regulation of protein autophosphorylation (GO:0031954)3.87458917
40regulation of complement activation (GO:0030449)3.86422048
41bile acid metabolic process (GO:0008206)3.85052805
42glutamate metabolic process (GO:0006536)3.83726995
43regulation of cholesterol homeostasis (GO:2000188)3.80512927
44negative regulation of cholesterol transport (GO:0032375)3.79800844
45negative regulation of sterol transport (GO:0032372)3.79800844
46keratinocyte development (GO:0003334)3.77850007
47DNA double-strand break processing (GO:0000729)3.76022300
48reverse cholesterol transport (GO:0043691)3.73946136
49serine family amino acid catabolic process (GO:0009071)3.73499883
50cellular modified amino acid catabolic process (GO:0042219)3.73076621
51regulation of triglyceride catabolic process (GO:0010896)3.72929757
52protein K11-linked deubiquitination (GO:0035871)3.72865654
53positive regulation of glycoprotein biosynthetic process (GO:0010560)3.69102612
54homocysteine metabolic process (GO:0050667)3.64754805
55nucleobase catabolic process (GO:0046113)3.63357755
56tyrosine metabolic process (GO:0006570)3.58138951
57aromatic amino acid family metabolic process (GO:0009072)3.57756418
58ketone body metabolic process (GO:1902224)3.57009739
59zinc ion transport (GO:0006829)3.52851133
60alpha-amino acid catabolic process (GO:1901606)3.52816033
61plasma lipoprotein particle clearance (GO:0034381)3.52130221
62acylglycerol homeostasis (GO:0055090)3.51085631
63triglyceride homeostasis (GO:0070328)3.51085631
64coenzyme catabolic process (GO:0009109)3.49992421
65positive regulation of fatty acid beta-oxidation (GO:0032000)3.49141001
66phospholipid homeostasis (GO:0055091)3.48763689
67amino-acid betaine metabolic process (GO:0006577)3.47655890
68protein-lipid complex remodeling (GO:0034368)3.46461378
69macromolecular complex remodeling (GO:0034367)3.46461378
70plasma lipoprotein particle remodeling (GO:0034369)3.46461378
71signal peptide processing (GO:0006465)3.43764897
72phospholipid efflux (GO:0033700)3.42537002
73COPII vesicle coating (GO:0048208)3.39679809
74drug catabolic process (GO:0042737)3.38920117
75cholesterol efflux (GO:0033344)3.36449451
76branched-chain amino acid catabolic process (GO:0009083)3.35982709
77cellular amino acid catabolic process (GO:0009063)3.34183257
78regulation of fatty acid beta-oxidation (GO:0031998)3.33125316
79acetyl-CoA metabolic process (GO:0006084)3.30958187
80positive regulation of lipid catabolic process (GO:0050996)3.30010043
812-oxoglutarate metabolic process (GO:0006103)3.29500610
82indolalkylamine metabolic process (GO:0006586)3.29300279
83regulation of Rac protein signal transduction (GO:0035020)3.24703112
84regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.20084775
85bile acid and bile salt transport (GO:0015721)3.19576781
86short-chain fatty acid metabolic process (GO:0046459)3.17562375
87positive regulation of muscle hypertrophy (GO:0014742)3.16126216
88positive regulation of cardiac muscle hypertrophy (GO:0010613)3.16126216
89platelet dense granule organization (GO:0060155)3.15577236
90valine metabolic process (GO:0006573)3.14677705
91ethanol oxidation (GO:0006069)3.12381290
92plasma lipoprotein particle assembly (GO:0034377)3.12205277
93intestinal cholesterol absorption (GO:0030299)3.10015185
94benzene-containing compound metabolic process (GO:0042537)3.09791976
95negative regulation of DNA-dependent DNA replication (GO:2000104)3.08807812
96regulation of cholesterol esterification (GO:0010872)3.07929894
97aspartate family amino acid catabolic process (GO:0009068)3.07242856
98cellular glucuronidation (GO:0052695)3.07204186
99positive regulation of glycoprotein metabolic process (GO:1903020)3.07001172
100inositol phosphate catabolic process (GO:0071545)3.06992881
101protein-lipid complex assembly (GO:0065005)3.03958090
102positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.03658552
103positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.03658552
104positive regulation of mitotic sister chromatid separation (GO:1901970)3.03658552
105complement activation, classical pathway (GO:0006958)3.00567171
106exogenous drug catabolic process (GO:0042738)2.99612107
107telomere maintenance via telomerase (GO:0007004)2.98229129
108negative regulation of execution phase of apoptosis (GO:1900118)2.97667051
109regulation of acyl-CoA biosynthetic process (GO:0050812)2.97634042
110negative regulation of protein activation cascade (GO:2000258)2.97279485
111fatty acid transmembrane transport (GO:1902001)2.94186010
112complement activation (GO:0006956)2.93821439
113linoleic acid metabolic process (GO:0043651)2.92977021
114replication fork processing (GO:0031297)2.92524430
115regulation of protein autophosphorylation (GO:0031952)2.90013535
116female gonad development (GO:0008585)2.89104529
117cytolysis (GO:0019835)2.89099595
118heme transport (GO:0015886)2.88535966
119negative regulation of lipase activity (GO:0060192)2.88303736
120carboxylic acid catabolic process (GO:0046395)2.88231976
121organic acid catabolic process (GO:0016054)2.88231976
122proteasome assembly (GO:0043248)2.87376942
123regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.86882628
124fibrinolysis (GO:0042730)2.84927007
125drug transmembrane transport (GO:0006855)2.84552294
126cholesterol homeostasis (GO:0042632)2.83732568
127imidazole-containing compound metabolic process (GO:0052803)2.82992304
128sterol homeostasis (GO:0055092)2.82817743
129positive regulation of fatty acid oxidation (GO:0046321)2.81845276
130arginine metabolic process (GO:0006525)2.81442866
131regulation of cholesterol biosynthetic process (GO:0045540)2.81073951
132monocarboxylic acid catabolic process (GO:0072329)2.80758412
133synapsis (GO:0007129)2.80556106
134amine catabolic process (GO:0009310)2.80128964
135cellular biogenic amine catabolic process (GO:0042402)2.80128964
136regulation of sulfur metabolic process (GO:0042762)2.79890062
137positive regulation of actin filament depolymerization (GO:0030836)2.79331547
138serine family amino acid metabolic process (GO:0009069)2.79187147
139regulation of centriole replication (GO:0046599)2.77103574
140regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.74252512
141intra-Golgi vesicle-mediated transport (GO:0006891)2.74043651
142Golgi to endosome transport (GO:0006895)2.74022355
143peptidyl-cysteine modification (GO:0018198)2.73711899
144protein prenylation (GO:0018342)2.72867833
145prenylation (GO:0097354)2.72867833
146mitochondrial DNA replication (GO:0006264)2.71336104
147polyol catabolic process (GO:0046174)2.69251531
148righting reflex (GO:0060013)2.69192639
149regulation of helicase activity (GO:0051095)2.66788751
150UDP-N-acetylglucosamine metabolic process (GO:0006047)2.66452284
151positive regulation of glycolytic process (GO:0045821)2.65885628
152histone H2A acetylation (GO:0043968)2.65483918
153RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.57267032
154respiratory chain complex IV assembly (GO:0008535)2.56998809
155inositol phosphate dephosphorylation (GO:0046855)2.56089172
156phosphorylated carbohydrate dephosphorylation (GO:0046838)2.56089172
157protein K6-linked ubiquitination (GO:0085020)2.55861367
158branched-chain amino acid metabolic process (GO:0009081)2.54960450
159regulation of relaxation of muscle (GO:1901077)2.51159206
160negative regulation of JUN kinase activity (GO:0043508)2.50693513
161pancreas development (GO:0031016)2.50308420
162water-soluble vitamin biosynthetic process (GO:0042364)2.49956124
163sister chromatid cohesion (GO:0007062)2.49556191
164regulation of telomere maintenance (GO:0032204)2.48183921
165regulation of DNA endoreduplication (GO:0032875)2.47471393
166transcytosis (GO:0045056)2.47402775
167regulation of telomere maintenance via telomerase (GO:0032210)2.47358313
168regulation of coenzyme metabolic process (GO:0051196)2.47154853
169regulation of cofactor metabolic process (GO:0051193)2.47154853
170positive regulation of macroautophagy (GO:0016239)2.47069650
171acrosome assembly (GO:0001675)2.46305672
172lipid particle organization (GO:0034389)2.45360890
173photoreceptor cell maintenance (GO:0045494)2.42129519
174presynaptic membrane assembly (GO:0097105)2.41953618
175insulin secretion (GO:0030073)2.41767504
176establishment of protein localization to Golgi (GO:0072600)2.41314540
177protein targeting to Golgi (GO:0000042)2.39628749
178fatty acid elongation (GO:0030497)2.38784081
179non-recombinational repair (GO:0000726)2.38431635
180double-strand break repair via nonhomologous end joining (GO:0006303)2.38431635
181positive regulation of histone H3-K4 methylation (GO:0051571)2.36314391
182RNA-dependent DNA replication (GO:0006278)2.34859624
183response to X-ray (GO:0010165)2.34441751
184regulation of mRNA 3-end processing (GO:0031440)2.34407579
185S-adenosylmethionine metabolic process (GO:0046500)2.33778150
186somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.33755062
187isotype switching (GO:0045190)2.33755062
188somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.33755062
189regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.32649159
190intracellular lipid transport (GO:0032365)2.32494577
191L-serine transport (GO:0015825)2.32335168
192histone mRNA catabolic process (GO:0071044)2.31936747
193double-strand break repair via homologous recombination (GO:0000724)2.31537083
194sequestering of metal ion (GO:0051238)2.29981131
195regulation of cell communication by electrical coupling (GO:0010649)2.29903941
196resolution of meiotic recombination intermediates (GO:0000712)2.28973942
197prostate gland growth (GO:0060736)2.28069143

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.34181698
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.27533156
3* PPARA_22158963_ChIP-Seq_LIVER_Mouse4.53292295
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.40994778
5SALL1_21062744_ChIP-ChIP_HESCs_Human3.53760913
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.46662518
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.37520491
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.21412170
9EGR1_23403033_ChIP-Seq_LIVER_Mouse3.18934665
10POU3F2_20337985_ChIP-ChIP_501MEL_Human3.11098119
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.80881597
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51897835
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.43700737
14SMAD_19615063_ChIP-ChIP_OVARY_Human2.28026832
15FUS_26573619_Chip-Seq_HEK293_Human2.25408362
16CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.21212860
17FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.18901143
18ZNF274_21170338_ChIP-Seq_K562_Hela2.05080359
19PCGF2_27294783_Chip-Seq_ESCs_Mouse1.99780667
20KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.98483092
21CLOCK_20551151_ChIP-Seq_293T_Human1.96339132
22P300_19829295_ChIP-Seq_ESCs_Human1.95282544
23VDR_22108803_ChIP-Seq_LS180_Human1.92897020
24EWS_26573619_Chip-Seq_HEK293_Human1.91617742
25TAF15_26573619_Chip-Seq_HEK293_Human1.91013499
26FOXA2_19822575_ChIP-Seq_HepG2_Human1.85232111
27* ELK1_19687146_ChIP-ChIP_HELA_Human1.83430750
28IGF1R_20145208_ChIP-Seq_DFB_Human1.82626373
29SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.77424794
30EZH2_27294783_Chip-Seq_NPCs_Mouse1.76805427
31ER_23166858_ChIP-Seq_MCF-7_Human1.71479104
32SUZ12_27294783_Chip-Seq_NPCs_Mouse1.71309539
33OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.68392028
34SMAD4_21799915_ChIP-Seq_A2780_Human1.68048037
35CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.67383767
36RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.60784034
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.57921278
38TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.57301483
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.56361330
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56352453
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.55961990
42* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.55623150
43KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.55094580
44NFE2_27457419_Chip-Seq_LIVER_Mouse1.54367091
45DROSHA_22980978_ChIP-Seq_HELA_Human1.52316155
46FOXM1_26456572_ChIP-Seq_MCF-7_Human1.52075495
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.51156856
48NANOG_18555785_Chip-Seq_ESCs_Mouse1.50188960
49STAT3_23295773_ChIP-Seq_U87_Human1.49856332
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.48979343
51PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.47890078
52STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.47480587
53TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.46720349
54* GABP_17652178_ChIP-ChIP_JURKAT_Human1.46070814
55CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.43762732
56ESR1_20079471_ChIP-ChIP_T-47D_Human1.43215069
57PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.41454842
58NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.40173335
59CDX2_22108803_ChIP-Seq_LS180_Human1.38881230
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37267121
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.37164993
62TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36158477
63EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.35478824
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.35220465
65SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34304239
66CRX_20693478_ChIP-Seq_RETINA_Mouse1.33867942
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.33330628
68CMYC_18555785_Chip-Seq_ESCs_Mouse1.33327307
69PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33037464
70P53_22387025_ChIP-Seq_ESCs_Mouse1.32993380
71TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30917689
72E2F1_18555785_Chip-Seq_ESCs_Mouse1.30680311
73TCF4_23295773_ChIP-Seq_U87_Human1.30240724
74FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.29554999
75AR_25329375_ChIP-Seq_VCAP_Human1.29511216
76E2F7_22180533_ChIP-Seq_HELA_Human1.28854541
77TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.28538130
78ESR2_21235772_ChIP-Seq_MCF-7_Human1.28402583
79TCF4_22108803_ChIP-Seq_LS180_Human1.28160627
80TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28056680
81CBP_20019798_ChIP-Seq_JUKART_Human1.27415313
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27415313
83E2F4_17652178_ChIP-ChIP_JURKAT_Human1.26392298
84SUZ12_18555785_Chip-Seq_ESCs_Mouse1.25861809
85P300_18555785_Chip-Seq_ESCs_Mouse1.25453348
86CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.24277455
87* EST1_17652178_ChIP-ChIP_JURKAT_Human1.23984307
88EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.22975315
89OCT4_21477851_ChIP-Seq_ESCs_Mouse1.21460304
90ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21445029
91SOX2_19829295_ChIP-Seq_ESCs_Human1.19696485
92NANOG_19829295_ChIP-Seq_ESCs_Human1.19696485
93SOX2_18555785_Chip-Seq_ESCs_Mouse1.18595022
94CTBP1_25329375_ChIP-Seq_LNCAP_Human1.18051072
95STAT3_18555785_Chip-Seq_ESCs_Mouse1.17674976
96ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.17524368
97GATA1_22025678_ChIP-Seq_K562_Human1.17211616
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17073757
99TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17056888
100SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.15146806
101BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14274692
102OCT4_18555785_Chip-Seq_ESCs_Mouse1.13753341
103* HNF4A_19822575_ChIP-Seq_HepG2_Human1.13113117
104PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.12619808
105ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12419809
106EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.11989751
107KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11287990
108EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.10791830
109SALL4_22934838_ChIP-ChIP_CD34+_Human1.10172031
110SOX2_27498859_Chip-Seq_STOMACH_Mouse1.09467974
111NMYC_18555785_Chip-Seq_ESCs_Mouse1.09339243
112BRD4_25478319_ChIP-Seq_HGPS_Human1.09333940
113NOTCH1_21737748_ChIP-Seq_TLL_Human1.08743382
114* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08233739
115HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.08108049
116ERG_21242973_ChIP-ChIP_JURKAT_Human1.07506474
117SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.06858177
118NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06064936
119FLI1_21867929_ChIP-Seq_TH2_Mouse1.05232407
120KDM2B_26808549_Chip-Seq_K562_Human1.03910516
121SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.02740973
122SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.01502617
123CTCF_18555785_Chip-Seq_ESCs_Mouse1.01242508
124MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.00774913
125WT1_19549856_ChIP-ChIP_CCG9911_Human1.00717932
126DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00379660
127NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.98847156
128AHR_22903824_ChIP-Seq_MCF-7_Human0.98593498
129MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97653838
130* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.96999031
131AR_21572438_ChIP-Seq_LNCaP_Human0.95572670
132FOXO3_23340844_ChIP-Seq_DLD1_Human0.95253565
133EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93209048
134WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92855078
135RARB_27405468_Chip-Seq_BRAIN_Mouse0.92606218
136ARNT_22903824_ChIP-Seq_MCF-7_Human0.91974827
137ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.91951008
138WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90741157
139RNF2_18974828_ChIP-Seq_MESCs_Mouse0.90287394
140EZH2_18974828_ChIP-Seq_MESCs_Mouse0.90287394
141LXR_22292898_ChIP-Seq_THP-1_Human0.89873359
142P300_27058665_Chip-Seq_ZR-75-30cells_Human0.89684691
143SMAD4_21741376_ChIP-Seq_HESCs_Human0.88042483
144DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87399595
145SOX2_21211035_ChIP-Seq_LN229_Gbm0.87138825
146GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87057165
147* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86337419
148* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86337419
149NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85969760
150KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.84908202
151KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84299549
152BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.84167164
153* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82506876
154RARG_19884340_ChIP-ChIP_MEFs_Mouse0.81851431
155* AR_19668381_ChIP-Seq_PC3_Human0.81545023
156VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.81250239
157KDM2B_26808549_Chip-Seq_DND41_Human0.80603299
158SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.80296842
159ZNF263_19887448_ChIP-Seq_K562_Human0.79895309
160SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.79299638
161PIAS1_25552417_ChIP-Seq_VCAP_Human0.79230454
162CDX2_19796622_ChIP-Seq_MESCs_Mouse0.78792756
163GBX2_23144817_ChIP-Seq_PC3_Human0.78589818
164BCAT_22108803_ChIP-Seq_LS180_Human0.78246667
165* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.77556561
166PPAR_26484153_Chip-Seq_NCI-H1993_Human0.77239455
167CTNNB1_20460455_ChIP-Seq_HCT116_Human0.76463017
168* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76322921
169GATA1_19941826_ChIP-Seq_K562_Human0.75351988
170ZFP281_18757296_ChIP-ChIP_E14_Mouse0.74066093
171ESR1_21235772_ChIP-Seq_MCF-7_Human0.74007008
172TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.73836266
173SUZ12_27294783_Chip-Seq_ESCs_Mouse0.73294805
174FOXA1_25552417_ChIP-Seq_VCAP_Human0.73263470
175KDM2B_26808549_Chip-Seq_JURKAT_Human0.72838826
176ISL1_27105846_Chip-Seq_CPCs_Mouse0.72742888
177SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.72338181
178ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.72096649
179CREB1_26743006_Chip-Seq_LNCaP_Human0.71978352
180GATA2_19941826_ChIP-Seq_K562_Human0.71959354
181TBX20_22328084_ChIP-Seq_HEART_Mouse0.71827200
182TBX20_22080862_ChIP-Seq_HEART_Mouse0.71827200
183REST_18959480_ChIP-ChIP_MESCs_Mouse0.71419556
184NFIB_24661679_ChIP-Seq_LUNG_Mouse0.70552167
185EZH2_27294783_Chip-Seq_ESCs_Mouse0.70326542
186REST_21632747_ChIP-Seq_MESCs_Mouse0.69216318
187SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68612008
188SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.68242240

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.30135993
2MP0005360_urolithiasis6.77407539
3MP0005365_abnormal_bile_salt5.72272114
4MP0005085_abnormal_gallbladder_physiolo5.26039542
5MP0008875_abnormal_xenobiotic_pharmacok4.11602480
6MP0003252_abnormal_bile_duct3.67550084
7MP0006054_spinal_hemorrhage3.42700617
8MP0010329_abnormal_lipoprotein_level3.40326081
9MP0008057_abnormal_DNA_replication3.19383411
10MP0005083_abnormal_biliary_tract3.08374117
11MP0001666_abnormal_nutrient_absorption2.91737438
12MP0005379_endocrine/exocrine_gland_phen2.89608709
13MP0002163_abnormal_gland_morphology2.71249071
14MP0010352_gastrointestinal_tract_polyps2.53517555
15MP0008877_abnormal_DNA_methylation2.51141689
16MP0005332_abnormal_amino_acid2.40883404
17MP0009840_abnormal_foam_cell2.40254473
18MP0000427_abnormal_hair_cycle2.21001806
19MP0003806_abnormal_nucleotide_metabolis2.20892579
20MP0002118_abnormal_lipid_homeostasis2.14190343
21MP0000372_irregular_coat_pigmentation2.13835050
22MP0000609_abnormal_liver_physiology2.05561166
23MP0003868_abnormal_feces_composition1.99643022
24MP0003195_calcinosis1.92665671
25MP0005075_abnormal_melanosome_morpholog1.86396881
26MP0003950_abnormal_plasma_membrane1.86350273
27MP0004130_abnormal_muscle_cell1.83896794
28MP0003705_abnormal_hypodermis_morpholog1.81220088
29MP0000516_abnormal_urinary_system1.80041416
30MP0005367_renal/urinary_system_phenotyp1.80041416
31MP0003191_abnormal_cellular_cholesterol1.79862573
32MP0003011_delayed_dark_adaptation1.78574437
33MP0004019_abnormal_vitamin_homeostasis1.75313794
34MP0000604_amyloidosis1.70612532
35MP0006072_abnormal_retinal_apoptosis1.65740972
36MP0000569_abnormal_digit_pigmentation1.64996985
37MP0003329_amyloid_beta_deposits1.64878484
38MP0003787_abnormal_imprinting1.63533209
39MP0008058_abnormal_DNA_repair1.62757828
40MP0002166_altered_tumor_susceptibility1.62403655
41MP0003786_premature_aging1.60509596
42MP0003941_abnormal_skin_development1.59236095
43MP0005174_abnormal_tail_pigmentation1.59171454
44MP0010678_abnormal_skin_adnexa1.54357206
45MP0005551_abnormal_eye_electrophysiolog1.53354095
46MP0002009_preneoplasia1.47129034
47MP0005584_abnormal_enzyme/coenzyme_acti1.46468715
48MP0003880_abnormal_central_pattern1.45980213
49MP0010094_abnormal_chromosome_stability1.44678915
50MP0002138_abnormal_hepatobiliary_system1.44418220
51MP0008961_abnormal_basal_metabolism1.42031838
52MP0005319_abnormal_enzyme/_coenzyme1.41692778
53MP0005253_abnormal_eye_physiology1.41129332
54MP0002102_abnormal_ear_morphology1.40796959
55MP0009780_abnormal_chondrocyte_physiolo1.37406507
56MP0008995_early_reproductive_senescence1.34377617
57MP0000647_abnormal_sebaceous_gland1.32840172
58MP0003300_gastrointestinal_ulcer1.32528012
59MP0004147_increased_porphyrin_level1.29137604
60MP0003890_abnormal_embryonic-extraembry1.25418420
61MP0004484_altered_response_of1.24819948
62MP0001984_abnormal_olfaction1.20937013
63MP0003943_abnormal_hepatobiliary_system1.19946568
64MP0003656_abnormal_erythrocyte_physiolo1.19254788
65MP0005670_abnormal_white_adipose1.19040408
66MP0004215_abnormal_myocardial_fiber1.18780940
67MP0002006_tumorigenesis1.17981887
68MP0003690_abnormal_glial_cell1.15213201
69MP0003718_maternal_effect1.14994875
70MP0004859_abnormal_synaptic_plasticity1.12995310
71MP0009643_abnormal_urine_homeostasis1.12731878
72MP0005666_abnormal_adipose_tissue1.09024982
73MP0005535_abnormal_body_temperature1.09007171
74MP0010234_abnormal_vibrissa_follicle1.08221352
75MP0002078_abnormal_glucose_homeostasis1.08183156
76MP0000371_diluted_coat_color1.06142986
77MP0008775_abnormal_heart_ventricle1.04315089
78MP0010307_abnormal_tumor_latency1.04286423
79MP0008007_abnormal_cellular_replicative1.04280749
80MP0005395_other_phenotype1.02127782
81MP0005408_hypopigmentation1.02015221
82MP0002254_reproductive_system_inflammat1.01309409
83MP0005334_abnormal_fat_pad0.99912454
84MP0005220_abnormal_exocrine_pancreas0.98232766
85MP0008872_abnormal_physiological_respon0.98055278
86MP0005647_abnormal_sex_gland0.97804718
87MP0005084_abnormal_gallbladder_morpholo0.96438530
88MP0005248_abnormal_Harderian_gland0.96169813
89MP0002971_abnormal_brown_adipose0.95730072
90MP0000598_abnormal_liver_morphology0.95373224
91MP0000015_abnormal_ear_pigmentation0.93746049
92MP0002909_abnormal_adrenal_gland0.92049922
93MP0000613_abnormal_salivary_gland0.90943598
94MP0005645_abnormal_hypothalamus_physiol0.90783284
95MP0000383_abnormal_hair_follicle0.90394039
96MP0004185_abnormal_adipocyte_glucose0.89012973
97MP0005451_abnormal_body_composition0.88193435
98MP0005187_abnormal_penis_morphology0.87957924
99MP0002693_abnormal_pancreas_physiology0.87282177
100MP0003121_genomic_imprinting0.87240051
101MP0004381_abnormal_hair_follicle0.86585063
102MP0005448_abnormal_energy_balance0.86523199
103MP0002396_abnormal_hematopoietic_system0.85931420
104MP0006036_abnormal_mitochondrial_physio0.85531046
105MP0006035_abnormal_mitochondrial_morpho0.85422806
106MP0001756_abnormal_urination0.85281343
107MP0002751_abnormal_autonomic_nervous0.84981543
108MP0001986_abnormal_taste_sensitivity0.84071805
109MP0009046_muscle_twitch0.81449303
110MP0004084_abnormal_cardiac_muscle0.81110577
111MP0005646_abnormal_pituitary_gland0.80615729
112MP0004270_analgesia0.80276536
113MP0009703_decreased_birth_body0.79860149
114MP0003172_abnormal_lysosome_physiology0.79392912
115MP0001177_atelectasis0.79081880
116MP0005636_abnormal_mineral_homeostasis0.78391229
117MP0009642_abnormal_blood_homeostasis0.78389476
118MP0001661_extended_life_span0.75869556
119MP0001764_abnormal_homeostasis0.75060301
120MP0002938_white_spotting0.73076337
121MP0004924_abnormal_behavior0.72631827
122MP0005386_behavior/neurological_phenoty0.72631827
123MP0001929_abnormal_gametogenesis0.72561376
124MP0002090_abnormal_vision0.72317647
125MP0004885_abnormal_endolymph0.72234430
126MP0005375_adipose_tissue_phenotype0.72038429
127MP0009764_decreased_sensitivity_to0.71362707
128MP0004264_abnormal_extraembryonic_tissu0.69376746
129MP0004858_abnormal_nervous_system0.65860117
130MP0002876_abnormal_thyroid_physiology0.65461293
131MP0003959_abnormal_lean_body0.64939662
132MP0005058_abnormal_lysosome_morphology0.64065806
133MP0004043_abnormal_pH_regulation0.63897765
134MP0009053_abnormal_anal_canal0.61437755
135MP0003953_abnormal_hormone_level0.60940342
136MP0009763_increased_sensitivity_to0.60787929
137MP0008874_decreased_physiological_sensi0.58265113
138MP0001944_abnormal_pancreas_morphology0.57819586
139MP0002069_abnormal_eating/drinking_beha0.57573283
140MP0009115_abnormal_fat_cell0.56504378
141MP0002168_other_aberrant_phenotype0.55911468
142MP0009672_abnormal_birth_weight0.55483274
143MP0000639_abnormal_adrenal_gland0.55417257
144MP0003635_abnormal_synaptic_transmissio0.54677346
145MP0002928_abnormal_bile_duct0.52618420
146MP0002822_catalepsy0.52067564
147MP0003633_abnormal_nervous_system0.51529088
148MP0003632_abnormal_nervous_system0.50393820
149MP0001881_abnormal_mammary_gland0.50001568
150MP0003183_abnormal_peptide_metabolism0.49240255
151MP0002970_abnormal_white_adipose0.48936939
152MP0001765_abnormal_ion_homeostasis0.48294956
153MP0002063_abnormal_learning/memory/cond0.48039049
154MP0010368_abnormal_lymphatic_system0.47308483
155MP0002136_abnormal_kidney_physiology0.46619662
156MP0000579_abnormal_nail_morphology0.45498293
157MP0009765_abnormal_xenobiotic_induced0.44325094
158MP0002896_abnormal_bone_mineralization0.44321879
159MP0003631_nervous_system_phenotype0.44043044
160MP0005076_abnormal_cell_differentiation0.43725786
161MP0003045_fibrosis0.43377236
162MP0009697_abnormal_copulation0.42695924
163MP0008469_abnormal_protein_level0.41988376
164MP0000003_abnormal_adipose_tissue0.40709442
165MP0002837_dystrophic_cardiac_calcinosis0.39643964
166MP0000538_abnormal_urinary_bladder0.39467818

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.09318614
2Intrahepatic cholestasis (HP:0001406)5.22075204
3Abnormality of aromatic amino acid family metabolism (HP:0004338)4.92068920
4Xanthomatosis (HP:0000991)4.90819582
5Complement deficiency (HP:0004431)4.62878509
6Abnormality of monocarboxylic acid metabolism (HP:0010996)4.61340512
7Hypobetalipoproteinemia (HP:0003563)4.36519065
8Prolonged partial thromboplastin time (HP:0003645)4.33845639
9Hyperlipoproteinemia (HP:0010980)4.10136120
10Epidermoid cyst (HP:0200040)3.94480781
11Ketosis (HP:0001946)3.81387609
12Pancreatic islet-cell hyperplasia (HP:0004510)3.77498181
13Abnormality of the common coagulation pathway (HP:0010990)3.67381218
14Abnormality of glutamine family amino acid metabolism (HP:0010902)3.52320171
15Hypolipoproteinemia (HP:0010981)3.48997347
16Hyperammonemia (HP:0001987)3.40575752
17Hypoalphalipoproteinemia (HP:0003233)3.31483408
18Hyperglycinemia (HP:0002154)3.28734671
19Abnormality of sulfur amino acid metabolism (HP:0004339)3.26699107
20Joint hemorrhage (HP:0005261)3.20167423
21Hypothermia (HP:0002045)3.19626123
22Abnormality of serine family amino acid metabolism (HP:0010894)3.13780610
23Abnormality of glycine metabolism (HP:0010895)3.13780610
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.13586575
25Abnormality of complement system (HP:0005339)3.05583354
26Fat malabsorption (HP:0002630)3.02981705
27Hyperglycinuria (HP:0003108)2.99977236
28Hypoglycemic coma (HP:0001325)2.99687738
29Neoplasm of the adrenal cortex (HP:0100641)2.99561550
30Ketoacidosis (HP:0001993)2.96340883
31Intestinal atresia (HP:0011100)2.87288492
32Methylmalonic acidemia (HP:0002912)2.87138153
33Abnormality of vitamin B metabolism (HP:0004340)2.81522265
34Abnormality of chromosome stability (HP:0003220)2.80786043
35Conjugated hyperbilirubinemia (HP:0002908)2.80362061
36Abnormality of the intrinsic pathway (HP:0010989)2.75839896
37Volvulus (HP:0002580)2.71767865
38Aqueductal stenosis (HP:0002410)2.70592576
39Skin nodule (HP:0200036)2.66931982
40Abnormality of aspartate family amino acid metabolism (HP:0010899)2.65814785
41Renal cortical cysts (HP:0000803)2.65500981
42Hypercholesterolemia (HP:0003124)2.63948618
43Myocardial infarction (HP:0001658)2.62550689
44Neoplasm of the adrenal gland (HP:0100631)2.62114810
45Gout (HP:0001997)2.61633528
46Delayed CNS myelination (HP:0002188)2.58359325
47Hamartoma of the eye (HP:0010568)2.57813179
48Abnormality of purine metabolism (HP:0004352)2.52795863
49Abnormality of the renal cortex (HP:0011035)2.50721237
50Macroorchidism (HP:0000053)2.48262248
51Astrocytoma (HP:0009592)2.48074702
52Abnormality of the astrocytes (HP:0100707)2.48074702
53Symptomatic seizures (HP:0011145)2.47930679
54Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.46449958
55Hepatocellular carcinoma (HP:0001402)2.46016421
56Pancreatic cysts (HP:0001737)2.45801352
57Abnormality of fatty-acid metabolism (HP:0004359)2.42076942
58Gaze-evoked nystagmus (HP:0000640)2.40705834
59Mitral stenosis (HP:0001718)2.39922106
60Thyroid carcinoma (HP:0002890)2.39458011
61Large for gestational age (HP:0001520)2.38488015
62Curly hair (HP:0002212)2.37623502
63Abnormality of methionine metabolism (HP:0010901)2.35560472
64Glioma (HP:0009733)2.34978085
65Thyroiditis (HP:0100646)2.34519823
66Ependymoma (HP:0002888)2.33718726
67Abnormality of the lower motor neuron (HP:0002366)2.32295341
68Hypoglycemic seizures (HP:0002173)2.29934236
69Neonatal onset (HP:0003623)2.28919974
70Abnormality of the vitamin B12 metabolism (HP:0004341)2.27034514
71Breast carcinoma (HP:0003002)2.26314400
72Sensorimotor neuropathy (HP:0007141)2.24860427
73Gastrointestinal atresia (HP:0002589)2.23086510
74Chromsome breakage (HP:0040012)2.22949354
75Hyperbilirubinemia (HP:0002904)2.22696081
76Pancreatic fibrosis (HP:0100732)2.22394237
77Abnormality of nucleobase metabolism (HP:0010932)2.21518895
78Turricephaly (HP:0000262)2.20889532
79Hypochromic microcytic anemia (HP:0004840)2.19353146
80Abnormal biliary tract morphology (HP:0012440)2.19026927
81Hyperventilation (HP:0002883)2.18708290
82Systemic lupus erythematosus (HP:0002725)2.17669343
83Metaphyseal dysplasia (HP:0100255)2.16239602
84Spastic diplegia (HP:0001264)2.15580533
85Status epilepticus (HP:0002133)2.14636000
86Papillary thyroid carcinoma (HP:0002895)2.14303083
87Spontaneous abortion (HP:0005268)2.14289708
88Acanthocytosis (HP:0001927)2.14231141
89Rhabdomyosarcoma (HP:0002859)2.12829494
90Molar tooth sign on MRI (HP:0002419)2.10123597
91Abnormality of midbrain morphology (HP:0002418)2.10123597
92Posterior subcapsular cataract (HP:0007787)2.06940591
93Disproportionate short-trunk short stature (HP:0003521)2.06334937
94Fair hair (HP:0002286)2.05666600
95Steatorrhea (HP:0002570)2.05655580
96Hyperinsulinemic hypoglycemia (HP:0000825)2.05573058
97Conjunctival hamartoma (HP:0100780)2.04042626
98Abnormality of proline metabolism (HP:0010907)2.03443252
99Hydroxyprolinuria (HP:0003080)2.03443252
100Bifid tongue (HP:0010297)2.02289950
101Chromosomal breakage induced by crosslinking agents (HP:0003221)2.01659919
102Glomerulonephritis (HP:0000099)2.00336313
103Abnormality of vitamin metabolism (HP:0100508)1.99390193
104Abnormal social behavior (HP:0012433)1.97805314
105Impaired social interactions (HP:0000735)1.97805314
106Hematochezia (HP:0002573)1.96863534
107Progressive inability to walk (HP:0002505)1.96615725
108Unilateral renal agenesis (HP:0000122)1.96067720
109Cerebral inclusion bodies (HP:0100314)1.95789144
110Methylmalonic aciduria (HP:0012120)1.95220496
111Proximal tubulopathy (HP:0000114)1.94949887
112Medial flaring of the eyebrow (HP:0010747)1.94085014
113Tubulointerstitial nephritis (HP:0001970)1.92844442
114Cholelithiasis (HP:0001081)1.92117144
115Abnormal gallbladder morphology (HP:0012437)1.91981802
116Abnormal pancreas size (HP:0012094)1.90700930
117Aplasia/Hypoplasia of the tongue (HP:0010295)1.90269525
118Insulin-resistant diabetes mellitus (HP:0000831)1.89560406
119Genital tract atresia (HP:0001827)1.89549357
120Long toe (HP:0010511)1.88915971
121Metabolic acidosis (HP:0001942)1.88317414
122Lymphangioma (HP:0100764)1.88026470
123Back pain (HP:0003418)1.87487619
124Prominent metopic ridge (HP:0005487)1.86210941
125Abnormality of glycolysis (HP:0004366)1.85663920
126Hypoplasia of the fovea (HP:0007750)1.84700093
127Aplasia/Hypoplasia of the fovea (HP:0008060)1.84700093
128Hemorrhage of the eye (HP:0011885)1.84635963
129Muscular hypotonia of the trunk (HP:0008936)1.83266502
130Hyperglycemia (HP:0003074)1.82924640
131Irritability (HP:0000737)1.82668742
132Abnormality of the preputium (HP:0100587)1.82387795
133Chronic hepatic failure (HP:0100626)1.82354155
134Microglossia (HP:0000171)1.81380594
135Generalized myoclonic seizures (HP:0002123)1.81230894
136Abnormality of the Achilles tendon (HP:0005109)1.80924719
137Pseudobulbar signs (HP:0002200)1.80475780
138Cutaneous melanoma (HP:0012056)1.80442891
139Neurofibrillary tangles (HP:0002185)1.79243481
140Albinism (HP:0001022)1.78086125
141Aplasia/Hypoplasia of the uvula (HP:0010293)1.77882560
142Abnormality of endocrine pancreas physiology (HP:0012093)1.77003246
143Abnormality of the pancreatic islet cells (HP:0006476)1.77003246
144Gonadotropin excess (HP:0000837)1.76303453
145Vascular calcification (HP:0004934)1.75702182
146Increased serum pyruvate (HP:0003542)1.75441446
147Furrowed tongue (HP:0000221)1.74926021
148Biliary tract neoplasm (HP:0100574)1.74868130
149Death in childhood (HP:0003819)1.74080139
150Abnormality of serum amino acid levels (HP:0003112)1.74045189
151Esophageal varix (HP:0002040)1.73375127
152True hermaphroditism (HP:0010459)1.73202719
153Congenital malformation of the right heart (HP:0011723)1.71987392
154Double outlet right ventricle (HP:0001719)1.71987392
155Disproportionate tall stature (HP:0001519)1.71681670
156Gingival bleeding (HP:0000225)1.70898295
157Abnormality of the ileum (HP:0001549)1.70673872
158Hepatoblastoma (HP:0002884)1.70504941
159Tetraplegia (HP:0002445)1.69532546
160Sensory axonal neuropathy (HP:0003390)1.69504758
161Meckel diverticulum (HP:0002245)1.69488671
162Cortical dysplasia (HP:0002539)1.68901827
163Nephronophthisis (HP:0000090)1.67824125
164Malnutrition (HP:0004395)1.67782355
165Absent eyebrow (HP:0002223)1.66829913
166Tongue fasciculations (HP:0001308)1.66634776
167Enlarged kidneys (HP:0000105)1.66443125
168Hypoproteinemia (HP:0003075)1.66054486
169Postural tremor (HP:0002174)1.65955846
170Meningioma (HP:0002858)1.65635090
171Increased purine levels (HP:0004368)1.65490166
172Hyperuricemia (HP:0002149)1.65490166
173Pheochromocytoma (HP:0002666)1.64121389
174Cardiovascular calcification (HP:0011915)1.64097018
175Abnormality of the labia minora (HP:0012880)1.63765740
176Enlarged penis (HP:0000040)1.63643636
177Abnormality of the gallbladder (HP:0005264)1.62906471
178Cholecystitis (HP:0001082)1.62646592
179Abnormal gallbladder physiology (HP:0012438)1.62646592
180Intention tremor (HP:0002080)1.61161729
181Termporal pattern (HP:0011008)1.59568095
182Insidious onset (HP:0003587)1.59568095
183Nephritis (HP:0000123)1.59531772
184Abnormality of pyrimidine metabolism (HP:0004353)1.58964959
185Poikilocytosis (HP:0004447)1.58649674

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM284.15912776
2ERN13.65138894
3MST43.29030277
4SIK13.22587550
5EIF2AK33.09695350
6TRIB32.92598756
7MAP4K22.88805521
8FGFR42.59420357
9ERBB32.58599576
10CAMK1G2.48974012
11TNIK2.46324429
12CAMK1D2.42322064
13ACVR1B2.29931270
14BCR2.28690406
15BCKDK2.12452810
16MKNK22.06642218
17EIF2AK12.06011065
18PKN22.02787900
19INSRR2.02651795
20MAP3K92.00216577
21TAOK31.94109047
22BRSK21.90165847
23NUAK11.90028066
24MARK11.83517622
25PTK61.78987286
26NLK1.77974260
27AKT31.77855813
28CDK121.76557430
29FGFR21.76294612
30LATS11.73460159
31BMPR1B1.70623687
32MAP2K41.66466845
33PLK31.64829267
34MAP3K101.57050735
35SIK31.55897596
36TSSK61.52165396
37STK31.51745754
38PLK21.49268818
39FRK1.39635949
40PAK61.38004230
41ICK1.36572819
42MAP3K71.36512429
43MAP3K121.34663384
44GRK11.32721117
45RET1.32686823
46PDK21.32586253
47STK391.30938125
48SIK21.30383383
49OXSR11.29121443
50TAF11.27134752
51KSR11.26638628
52PDGFRA1.26495408
53CASK1.26141450
54MINK11.24871636
55DAPK21.24581924
56RIPK11.24096767
57TRPM71.23873356
58MAP3K41.21971222
59PNCK1.20274718
60EEF2K1.12193224
61STK38L1.10102745
62EPHB11.09989515
63MKNK11.09001374
64JAK11.07201452
65SGK31.05032610
66PAK31.04310901
67BUB11.04195432
68FGFR31.03865442
69KSR21.02198986
70JAK20.97582782
71NTRK30.97281223
72MTOR0.96786738
73UHMK10.94066371
74STK240.92988796
75NEK10.92556163
76BMPR20.90836655
77WEE10.90223629
78MAPK130.90006975
79PRKCE0.89245721
80PBK0.87640448
81YES10.87275025
82PRKCH0.86345004
83NTRK20.86162117
84PTK20.84880509
85MAP3K20.84234649
86TYRO30.83879172
87CAMKK10.83767311
88ERBB40.83607808
89PRKAA10.83009848
90NTRK10.82564632
91CDK60.81547854
92BRD40.81095918
93TTK0.78531036
94ERBB20.78193369
95PLK40.78036948
96PRKCZ0.75396561
97PRKAA20.75151842
98PDGFRB0.74795254
99EIF2AK20.71446788
100MAP2K60.70848345
101FGFR10.70269295
102BMX0.69365974
103FER0.68997006
104PHKG10.68658707
105PHKG20.68658707
106TTN0.68569808
107CSNK1G10.67839894
108MAPK110.66262921
109DYRK1B0.65234562
110SCYL20.62704006
111PRPF4B0.62577683
112TAOK10.60504877
113ITK0.59459147
114MST1R0.59247046
115PDPK10.59178458
116TAOK20.59004171
117IRAK10.58692447
118CDK50.57773740
119PINK10.56797441
120MAPKAPK30.56588782
121WNK10.56205347
122BRSK10.55715212
123MAPK120.55557086
124SGK2230.55450753
125SGK4940.55450753
126PTK2B0.55251127
127CSNK1G20.54501007
128FYN0.52593492
129SGK20.52245270
130TYK20.52040041
131PIK3CG0.51965991
132MELK0.51936362
133PRKACG0.50670748
134PRKD30.49778664
135STK380.49495679
136LATS20.48970824
137ZAK0.48886023
138PDK10.47745060
139NEK60.47446306
140EGFR0.47305720
141CSNK1A1L0.46073784
142ATM0.45998376
143RPS6KA20.45726578
144WNK30.45413700
145MARK20.44819298
146RPS6KB10.44539443
147GRK60.43252569
148MAP2K10.43144668
149VRK10.42510300
150RPS6KA30.42186621
151MAP3K130.41727335
152CAMK2D0.41551750
153STK40.40290242
154CAMKK20.40258539
155EPHA30.40206968
156SGK10.39691148
157ALK0.39274962
158PLK10.38970428
159STK110.38146221
160PRKD10.37492510
161STK100.36863001
162LMTK20.36471412
163EPHA40.35907624
164ROCK10.34617500
165ADRBK20.33628153
166NEK90.32482309
167TEC0.31856457
168PRKCI0.29902313
169PIK3CA0.29066714
170CSNK1G30.27851443
171PRKCG0.27302046
172MUSK0.25699966
173CDK30.24909161

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.97678954
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.72717908
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.31594993
4Protein export_Homo sapiens_hsa030603.30498413
5Non-homologous end-joining_Homo sapiens_hsa034502.95413193
6Arginine biosynthesis_Homo sapiens_hsa002202.82387698
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.72823849
8Tryptophan metabolism_Homo sapiens_hsa003802.37453157
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.34042089
10Fatty acid degradation_Homo sapiens_hsa000712.30905380
11Butanoate metabolism_Homo sapiens_hsa006502.30648975
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.30265094
13Complement and coagulation cascades_Homo sapiens_hsa046102.23310089
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.16005462
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.12663699
16Proteasome_Homo sapiens_hsa030502.06428421
17Fatty acid metabolism_Homo sapiens_hsa012121.89484009
18PPAR signaling pathway_Homo sapiens_hsa033201.87657042
19Propanoate metabolism_Homo sapiens_hsa006401.84091173
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.83776323
21Bile secretion_Homo sapiens_hsa049761.76487334
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.76249480
23Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.71269101
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.68621714
25Basal transcription factors_Homo sapiens_hsa030221.61648078
262-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.59906901
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.57202736
28Peroxisome_Homo sapiens_hsa041461.54232826
29Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.51288043
30Caffeine metabolism_Homo sapiens_hsa002321.49993020
31Pentose and glucuronate interconversions_Homo sapiens_hsa000401.48636101
32Fanconi anemia pathway_Homo sapiens_hsa034601.48005714
33Circadian rhythm_Homo sapiens_hsa047101.47772906
34Staphylococcus aureus infection_Homo sapiens_hsa051501.40294519
35Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.38858004
36Histidine metabolism_Homo sapiens_hsa003401.30575979
37beta-Alanine metabolism_Homo sapiens_hsa004101.30200935
38Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.30074385
39ABC transporters_Homo sapiens_hsa020101.28336306
40Fat digestion and absorption_Homo sapiens_hsa049751.24890925
41Steroid hormone biosynthesis_Homo sapiens_hsa001401.24714976
42Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.22334883
43Phototransduction_Homo sapiens_hsa047441.22055612
44Lysine degradation_Homo sapiens_hsa003101.22012719
45RNA degradation_Homo sapiens_hsa030181.15426634
46Ether lipid metabolism_Homo sapiens_hsa005651.14866809
47Chemical carcinogenesis_Homo sapiens_hsa052041.14607245
48Regulation of autophagy_Homo sapiens_hsa041401.13470853
49Pyruvate metabolism_Homo sapiens_hsa006201.12615881
50Selenocompound metabolism_Homo sapiens_hsa004501.12061190
51Homologous recombination_Homo sapiens_hsa034401.11830135
52Sphingolipid metabolism_Homo sapiens_hsa006001.11199314
53Starch and sucrose metabolism_Homo sapiens_hsa005001.06664651
54Phenylalanine metabolism_Homo sapiens_hsa003601.04884156
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.04767046
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.04704572
57N-Glycan biosynthesis_Homo sapiens_hsa005101.02469726
58Retinol metabolism_Homo sapiens_hsa008301.01363390
59Oocyte meiosis_Homo sapiens_hsa041140.99375875
60Drug metabolism - other enzymes_Homo sapiens_hsa009830.98289909
61Maturity onset diabetes of the young_Homo sapiens_hsa049500.96918469
62Fatty acid biosynthesis_Homo sapiens_hsa000610.96022499
63Glycerolipid metabolism_Homo sapiens_hsa005610.93820154
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89882311
65Sulfur metabolism_Homo sapiens_hsa009200.89022297
66Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.87039746
67Steroid biosynthesis_Homo sapiens_hsa001000.84464434
68Tyrosine metabolism_Homo sapiens_hsa003500.84448719
69Mineral absorption_Homo sapiens_hsa049780.84018224
70Biosynthesis of amino acids_Homo sapiens_hsa012300.81770465
71Amphetamine addiction_Homo sapiens_hsa050310.81052085
72Carbon metabolism_Homo sapiens_hsa012000.80658684
73Insulin resistance_Homo sapiens_hsa049310.79780024
74RNA transport_Homo sapiens_hsa030130.78917049
75One carbon pool by folate_Homo sapiens_hsa006700.77958617
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.68825044
77Folate biosynthesis_Homo sapiens_hsa007900.68277497
78Type II diabetes mellitus_Homo sapiens_hsa049300.67184041
79Fatty acid elongation_Homo sapiens_hsa000620.66981633
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66803533
81Linoleic acid metabolism_Homo sapiens_hsa005910.66126954
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.64192410
83TGF-beta signaling pathway_Homo sapiens_hsa043500.59822497
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59589040
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57501528
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57011226
87Adipocytokine signaling pathway_Homo sapiens_hsa049200.57005940
88AMPK signaling pathway_Homo sapiens_hsa041520.54295932
89Olfactory transduction_Homo sapiens_hsa047400.53115792
90Glucagon signaling pathway_Homo sapiens_hsa049220.51395729
91Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.50757134
92Prion diseases_Homo sapiens_hsa050200.50593063
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.49869434
94Vitamin digestion and absorption_Homo sapiens_hsa049770.49788276
95Metabolic pathways_Homo sapiens_hsa011000.48871953
96Inositol phosphate metabolism_Homo sapiens_hsa005620.48314525
97Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48036937
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47804422
99p53 signaling pathway_Homo sapiens_hsa041150.47462509
100Insulin signaling pathway_Homo sapiens_hsa049100.47131451
101* Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.45919092
102Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45715417
103Dopaminergic synapse_Homo sapiens_hsa047280.44942400
104Purine metabolism_Homo sapiens_hsa002300.44584542
105Glutathione metabolism_Homo sapiens_hsa004800.43846504
106Arginine and proline metabolism_Homo sapiens_hsa003300.43636274
107Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.43605214
108Collecting duct acid secretion_Homo sapiens_hsa049660.42180404
109Mismatch repair_Homo sapiens_hsa034300.41958237
110alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.41003830
111Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40549133
112Legionellosis_Homo sapiens_hsa051340.39389874
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38057916
114RNA polymerase_Homo sapiens_hsa030200.37500904
115Tight junction_Homo sapiens_hsa045300.35130074
116mTOR signaling pathway_Homo sapiens_hsa041500.35090026
117GABAergic synapse_Homo sapiens_hsa047270.35083330
118Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.33910851
119Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.30851715
120Glycerophospholipid metabolism_Homo sapiens_hsa005640.29032166
121Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28514080
122Endometrial cancer_Homo sapiens_hsa052130.26941014
123Dorso-ventral axis formation_Homo sapiens_hsa043200.25684264
124Thyroid hormone synthesis_Homo sapiens_hsa049180.24259576
125Central carbon metabolism in cancer_Homo sapiens_hsa052300.23441107
126Insulin secretion_Homo sapiens_hsa049110.22289142
127Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20387283
128Glioma_Homo sapiens_hsa052140.18710149
129Non-small cell lung cancer_Homo sapiens_hsa052230.18696253
130Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.17117447
131Vitamin B6 metabolism_Homo sapiens_hsa007500.15661774
132Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.14949069
133Pancreatic secretion_Homo sapiens_hsa049720.14875413
134Estrogen signaling pathway_Homo sapiens_hsa049150.13440772
135ErbB signaling pathway_Homo sapiens_hsa040120.13408622
136Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.12774073
137Gastric acid secretion_Homo sapiens_hsa049710.12006816
138Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.11390241
139Renin secretion_Homo sapiens_hsa049240.11368247
140Choline metabolism in cancer_Homo sapiens_hsa052310.10567311
141Prolactin signaling pathway_Homo sapiens_hsa049170.10562485
142Phosphatidylinositol signaling system_Homo sapiens_hsa040700.10440864
143Glutamatergic synapse_Homo sapiens_hsa047240.10412749
144Salivary secretion_Homo sapiens_hsa049700.09354108
145Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.09232196
146Fructose and mannose metabolism_Homo sapiens_hsa000510.08961675

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