USO1

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 peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)7.11785500
2Golgi transport vesicle coating (GO:0048200)7.11785500
3nuclear pore complex assembly (GO:0051292)5.95646044
4nuclear pore organization (GO:0006999)5.45209135
5COPII vesicle coating (GO:0048208)5.27186226
6maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.93164252
7activation of signaling protein activity involved in unfolded protein response (GO:0006987)4.85363558
8actin-myosin filament sliding (GO:0033275)4.82138514
9muscle filament sliding (GO:0030049)4.82138514
10positive regulation of nuclease activity (GO:0032075)4.59492427
11paraxial mesoderm development (GO:0048339)4.51895281
12actin-mediated cell contraction (GO:0070252)4.33872201
13protein retention in ER lumen (GO:0006621)4.28469304
14retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.27377232
15mitotic sister chromatid cohesion (GO:0007064)4.26970049
16endoplasmic reticulum unfolded protein response (GO:0030968)4.19258110
17regulation of nuclease activity (GO:0032069)4.15546315
18pore complex assembly (GO:0046931)4.06627295
19IMP metabolic process (GO:0046040)4.04858938
20cellular response to unfolded protein (GO:0034620)4.03055034
21vesicle coating (GO:0006901)3.99980553
22L-phenylalanine catabolic process (GO:0006559)3.99540757
23erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.99540757
24intestinal cholesterol absorption (GO:0030299)3.97217806
25ER-nucleus signaling pathway (GO:0006984)3.97107552
26establishment of integrated proviral latency (GO:0075713)3.77973968
27regulation of cholesterol homeostasis (GO:2000188)3.76940463
28cellular response to topologically incorrect protein (GO:0035967)3.73875690
29erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.72585353
30L-phenylalanine metabolic process (GO:0006558)3.72585353
31sarcoplasmic reticulum calcium ion transport (GO:0070296)3.70962665
32pre-miRNA processing (GO:0031054)3.68037763
334-hydroxyproline metabolic process (GO:0019471)3.67324235
34bundle of His cell to Purkinje myocyte communication (GO:0086069)3.67099669
35peptidyl-glutamic acid carboxylation (GO:0017187)3.65601086
36protein carboxylation (GO:0018214)3.65601086
37L-alpha-amino acid transmembrane transport (GO:1902475)3.62374164
38positive regulation of SMAD protein import into nucleus (GO:0060391)3.61487811
39IMP biosynthetic process (GO:0006188)3.58180338
40intestinal absorption (GO:0050892)3.57665411
41alpha-linolenic acid metabolic process (GO:0036109)3.47820853
42actin filament-based movement (GO:0030048)3.45735854
43ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.44408071
44macroautophagy (GO:0016236)3.42908787
45response to endoplasmic reticulum stress (GO:0034976)3.39947422
46triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.37207253
47lysine metabolic process (GO:0006553)3.35200394
48lysine catabolic process (GO:0006554)3.35200394
49sulfur amino acid catabolic process (GO:0000098)3.34361547
50regulation of posttranscriptional gene silencing (GO:0060147)3.32023468
51regulation of gene silencing by miRNA (GO:0060964)3.32023468
52regulation of gene silencing by RNA (GO:0060966)3.32023468
53skeletal muscle contraction (GO:0003009)3.30958809
54cysteine metabolic process (GO:0006534)3.30020035
55negative regulation of fibrinolysis (GO:0051918)3.29680130
56negative regulation of DNA repair (GO:0045738)3.28410222
57regulation of RNA export from nucleus (GO:0046831)3.25380088
58DNA unwinding involved in DNA replication (GO:0006268)3.24799486
59protein complex localization (GO:0031503)3.23753017
60aromatic amino acid family catabolic process (GO:0009074)3.22607989
61regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.19133067
62negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.18578435
63synapsis (GO:0007129)3.17570655
64regulation of translational fidelity (GO:0006450)3.14431922
65endocrine pancreas development (GO:0031018)3.13482964
66type B pancreatic cell development (GO:0003323)3.12844628
67complement activation, alternative pathway (GO:0006957)3.12659437
68cellular protein complex localization (GO:0034629)3.10878326
69response to unfolded protein (GO:0006986)3.10735030
70anterior/posterior axis specification, embryo (GO:0008595)3.08618888
71UDP-N-acetylglucosamine metabolic process (GO:0006047)3.07160656
72protein localization to kinetochore (GO:0034501)3.07000851
73valine metabolic process (GO:0006573)3.06092944
74regulation of histone H3-K9 methylation (GO:0051570)3.05330146
75ribosome assembly (GO:0042255)3.03596720
76high-density lipoprotein particle remodeling (GO:0034375)3.00395567
77urea metabolic process (GO:0019627)2.99596515
78urea cycle (GO:0000050)2.99596515
79low-density lipoprotein particle clearance (GO:0034383)2.98357988
80exocrine pancreas development (GO:0031017)2.98181302
81hormone catabolic process (GO:0042447)2.97456400
82nucleotide-sugar biosynthetic process (GO:0009226)2.95867872
83positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.95591828
84response to topologically incorrect protein (GO:0035966)2.94658340
85sarcomere organization (GO:0045214)2.94352033
86myofibril assembly (GO:0030239)2.93955585
87mitotic metaphase plate congression (GO:0007080)2.92940972
88ER overload response (GO:0006983)2.91731992
89formation of translation preinitiation complex (GO:0001731)2.91438943
90response to muscle activity (GO:0014850)2.90996154
91heterochromatin organization (GO:0070828)2.89964912
92Golgi organization (GO:0007030)2.89573187
93reverse cholesterol transport (GO:0043691)2.89306464
94NLS-bearing protein import into nucleus (GO:0006607)2.88754205
95regulation of protein activation cascade (GO:2000257)2.87188135
96kynurenine metabolic process (GO:0070189)2.86280864
97mitotic chromosome condensation (GO:0007076)2.85154553
98protein maturation by protein folding (GO:0022417)2.84355931
99negative regulation of potassium ion transmembrane transport (GO:1901380)2.83736279
100regulation of fibrinolysis (GO:0051917)2.83500204
101regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.82945739
102homocysteine metabolic process (GO:0050667)2.82540645
103gap junction assembly (GO:0016264)2.82206489
104protein localization to chromosome, centromeric region (GO:0071459)2.80693426
105negative regulation of fibroblast apoptotic process (GO:2000270)2.80306325
106cardiac myofibril assembly (GO:0055003)2.78931098
107cellular modified amino acid catabolic process (GO:0042219)2.78368906
108plasma lipoprotein particle clearance (GO:0034381)2.78124012
109peptide hormone processing (GO:0016486)2.77976937
110plasma membrane repair (GO:0001778)2.74850728
111apoptotic cell clearance (GO:0043277)2.74407900
112notochord development (GO:0030903)2.74184669
113regulation of complement activation (GO:0030449)2.73233192
114positive regulation of catenin import into nucleus (GO:0035413)2.72029537
115fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.72000510
116positive regulation of fatty acid beta-oxidation (GO:0032000)2.71244445
117sequestering of metal ion (GO:0051238)2.70666392
118hippo signaling (GO:0035329)2.70632736
119triglyceride homeostasis (GO:0070328)2.70363847
120acylglycerol homeostasis (GO:0055090)2.70363847
121regulation of membrane protein ectodomain proteolysis (GO:0051043)2.69070856
122regulation of nucleobase-containing compound transport (GO:0032239)2.67689459
123regulation of cell fate specification (GO:0042659)2.67409206
124glandular epithelial cell development (GO:0002068)2.67177938
125bile acid biosynthetic process (GO:0006699)2.67095964
126positive regulation of glycolytic process (GO:0045821)2.66938274
127endoplasmic reticulum organization (GO:0007029)2.66634457
128lipoprotein metabolic process (GO:0042157)2.66552280
129regulation of fatty acid beta-oxidation (GO:0031998)2.66431494
130positive regulation of p38MAPK cascade (GO:1900745)2.65939683
131nitrogen cycle metabolic process (GO:0071941)2.65241329
132tricarboxylic acid metabolic process (GO:0072350)2.65169544
133negative regulation of cholesterol transport (GO:0032375)2.64597646
134negative regulation of sterol transport (GO:0032372)2.64597646
135regulation of SMAD protein import into nucleus (GO:0060390)2.62826510
136positive regulation of histone deacetylation (GO:0031065)2.62544844
137tryptophan metabolic process (GO:0006568)2.62153744
138protein targeting to Golgi (GO:0000042)2.61084860
139phospholipid homeostasis (GO:0055091)2.61061003
140establishment of viral latency (GO:0019043)2.60007670
141regulation of triglyceride catabolic process (GO:0010896)2.59948264
142positive regulation of chromosome segregation (GO:0051984)2.58722027
143non-recombinational repair (GO:0000726)2.58620451
144double-strand break repair via nonhomologous end joining (GO:0006303)2.58620451
145dicarboxylic acid biosynthetic process (GO:0043650)2.58484599
146negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.57636029
147negative regulation of mitotic sister chromatid segregation (GO:0033048)2.57636029
148negative regulation of mitotic sister chromatid separation (GO:2000816)2.57636029
149negative regulation of sister chromatid segregation (GO:0033046)2.57636029
150negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.57636029
151actomyosin structure organization (GO:0031032)2.57559997
152glyoxylate metabolic process (GO:0046487)2.56569469
153negative regulation of lipid transport (GO:0032369)2.56453279
154metaphase plate congression (GO:0051310)2.56447071
155glutamate metabolic process (GO:0006536)2.56151306
156drug transmembrane transport (GO:0006855)2.56105396
1572-oxoglutarate metabolic process (GO:0006103)2.55893909
158indole-containing compound catabolic process (GO:0042436)2.55167859
159indolalkylamine catabolic process (GO:0046218)2.55167859
160tryptophan catabolic process (GO:0006569)2.55167859
161regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.55166368
162phospholipid efflux (GO:0033700)2.54701709
163macromolecular complex remodeling (GO:0034367)2.54333777
164plasma lipoprotein particle remodeling (GO:0034369)2.54333777
165protein-lipid complex remodeling (GO:0034368)2.54333777
166protein localization to endosome (GO:0036010)2.54216284
167tricarboxylic acid cycle (GO:0006099)2.54123259
168regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.53960850
169regulation of mitotic metaphase/anaphase transition (GO:0030071)2.53960850
170regulation of helicase activity (GO:0051095)2.53012397
171regulation of transforming growth factor beta2 production (GO:0032909)2.50756499
172negative regulation of chromosome segregation (GO:0051985)2.50321046
173regulation of sister chromatid segregation (GO:0033045)2.46007893
174regulation of mitotic sister chromatid separation (GO:0010965)2.46007893
175regulation of mitotic sister chromatid segregation (GO:0033047)2.46007893
176regulation of chromosome segregation (GO:0051983)2.43440448
177NADH metabolic process (GO:0006734)2.39199806
178mitotic spindle checkpoint (GO:0071174)2.38980201
179DNA synthesis involved in DNA repair (GO:0000731)2.38343426
180hemidesmosome assembly (GO:0031581)2.38147559
181response to X-ray (GO:0010165)2.37824852
182glycogen catabolic process (GO:0005980)2.37319876
183glycogen biosynthetic process (GO:0005978)2.37270694
184glucan biosynthetic process (GO:0009250)2.37270694
185AMP metabolic process (GO:0046033)2.35721590
186cell adhesion mediated by integrin (GO:0033627)2.35370275
187regulation of sister chromatid cohesion (GO:0007063)2.35251363
188glutamine metabolic process (GO:0006541)2.34747583
189striated muscle contraction (GO:0006941)2.32600809
190mitotic nuclear envelope disassembly (GO:0007077)2.32073763
191regulation of cofactor metabolic process (GO:0051193)2.31973076
192regulation of coenzyme metabolic process (GO:0051196)2.31973076
193spindle checkpoint (GO:0031577)2.31752888

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.18985363
2E2F7_22180533_ChIP-Seq_HELA_Human6.05846136
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.73119352
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.18876552
5PPARA_22158963_ChIP-Seq_LIVER_Mouse4.17893095
6SALL1_21062744_ChIP-ChIP_HESCs_Human3.37289507
7AR_21909140_ChIP-Seq_LNCAP_Human3.26242078
8* KDM5B_21448134_ChIP-Seq_MESCs_Mouse3.24533272
9NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.06973859
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.04243852
11CLOCK_20551151_ChIP-Seq_293T_Human2.98186766
12FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.76767218
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.73304295
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.72585851
15RBPJ_22232070_ChIP-Seq_NCS_Mouse2.66337346
16FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.64471878
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.50467264
18FOXM1_23109430_ChIP-Seq_U2OS_Human2.43905379
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.37216854
20E2F4_17652178_ChIP-ChIP_JURKAT_Human2.30271568
21GATA1_22025678_ChIP-Seq_K562_Human2.16685432
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.10528457
23SOX2_27498859_Chip-Seq_STOMACH_Mouse2.10028785
24TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.08636398
25SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.06276389
26KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.05657246
27KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.05657246
28KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.05657246
29TRIM28_21343339_ChIP-Seq_HEK293_Human1.98059421
30EGR1_23403033_ChIP-Seq_LIVER_Mouse1.95465307
31FOXA2_19822575_ChIP-Seq_HepG2_Human1.95442185
32POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.94918958
33MYC_19079543_ChIP-ChIP_MESCs_Mouse1.94894406
34HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.88318978
35ZFX_18555785_ChIP-Seq_MESCs_Mouse1.85009281
36TP63_17297297_ChIP-ChIP_HaCaT_Human1.81900475
37MYCN_18555785_ChIP-Seq_MESCs_Mouse1.81529195
38ESR1_21235772_ChIP-Seq_MCF-7_Human1.80651040
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.77962894
40FOXO3_23340844_ChIP-Seq_DLD1_Human1.74354260
41CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.65910398
42NELFA_20434984_ChIP-Seq_ESCs_Mouse1.65744320
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.64723642
44EGR1_19374776_ChIP-ChIP_THP-1_Human1.64194807
45MYC_19030024_ChIP-ChIP_MESCs_Mouse1.62357479
46NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.58778916
47FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.57472761
48ELK1_19687146_ChIP-ChIP_HELA_Human1.57053443
49E2F1_21310950_ChIP-Seq_MCF-7_Human1.56130925
50NANOG_16153702_ChIP-ChIP_HESCs_Human1.54458448
51ZNF217_24962896_ChIP-Seq_MCF-7_Human1.52720006
52TCF3_18692474_ChIP-Seq_MEFs_Mouse1.52148502
53RARG_19884340_ChIP-ChIP_MEFs_Mouse1.52008079
54SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.49105262
55ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.48107028
56TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46864845
57EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.45400679
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.45306109
59ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.45279280
60AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.43258353
61YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.40854949
62SALL4_18804426_ChIP-ChIP_XEN_Mouse1.39280857
63CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.38995148
64TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.38704462
65P300_27058665_Chip-Seq_ZR-75-30cells_Human1.37491976
66BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.37344096
67NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.35900959
68SOX17_20123909_ChIP-Seq_XEN_Mouse1.35839422
69GATA6_25053715_ChIP-Seq_YYC3_Human1.34473919
70PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33129745
71MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.30807115
72ESR1_20079471_ChIP-ChIP_T-47D_Human1.28542738
73SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.28288098
74GATA4_25053715_ChIP-Seq_YYC3_Human1.28148682
75ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.28131216
76PADI4_21655091_ChIP-ChIP_MCF-7_Human1.27999053
77PPAR_26484153_Chip-Seq_NCI-H1993_Human1.27793157
78GATA4_21415370_ChIP-Seq_HL-1_Mouse1.26714928
79ZNF263_19887448_ChIP-Seq_K562_Human1.26216681
80FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.25936720
81TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.24810208
82PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.24110277
83KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.23370046
84* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.23230349
85HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.22967061
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.20497797
87FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.20224795
88EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.19740935
89CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.19728154
90TBX20_22328084_ChIP-Seq_HEART_Mouse1.19569748
91TBX20_22080862_ChIP-Seq_HEART_Mouse1.19569748
92SOX2_20726797_ChIP-Seq_SW620_Human1.19067294
93CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.18480553
94CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.17260073
95ATF3_27146783_Chip-Seq_COLON_Human1.16960908
96KLF4_18555785_ChIP-Seq_MESCs_Mouse1.16396123
97RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.16208135
98NFIB_24661679_ChIP-Seq_LUNG_Mouse1.15993079
99HNF4A_19822575_ChIP-Seq_HepG2_Human1.15908687
100* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.15769425
101SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.14460516
102SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.14460516
103POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.13977407
104RACK7_27058665_Chip-Seq_MCF-7_Human1.13010581
105NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.12933188
106NRF2_20460467_ChIP-Seq_MEFs_Mouse1.12933188
107CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.12860684
108DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.12845381
109KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.12671832
110TCF3_18692474_ChIP-Seq_MESCs_Mouse1.12412712
111FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.11738862
112GATA1_19941826_ChIP-Seq_K562_Human1.11451182
113GATA3_24758297_ChIP-Seq_MCF-7_Human1.10770657
114E2F1_18555785_ChIP-Seq_MESCs_Mouse1.10175638
115PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.07142385
116NANOG_21062744_ChIP-ChIP_HESCs_Human1.06901200
117FLI1_27457419_Chip-Seq_LIVER_Mouse1.06697879
118FUS_26573619_Chip-Seq_HEK293_Human1.06529977
119WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.06285344
120STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06081560
121CREB1_15753290_ChIP-ChIP_HEK293T_Human1.05553226
122CREB1_26743006_Chip-Seq_LNCaP_Human1.04904627
123NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.04781697
124TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04373561
125ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.04228316
126POU3F2_20337985_ChIP-ChIP_501MEL_Human1.03784376
127ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.03738997
128GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.02952690
129CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.02273519
130CHD1_26751641_Chip-Seq_LNCaP_Human1.01953188
131MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.01903782
132KDM2B_26808549_Chip-Seq_K562_Human1.01880241
133FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.01601944
134FOXM1_26456572_ChIP-Seq_MCF-7_Human1.01111243
135TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01033064
136TCF4_18268006_ChIP-ChIP_LS174T_Human1.01003597
137ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.00881313
138GATA2_21666600_ChIP-Seq_HMVEC_Human1.00526671
139* FOXA1_25552417_ChIP-Seq_VCAP_Human1.00506509
140PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00070345
141MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.99287927
142FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.98735607
143RUNX1_27514584_Chip-Seq_MCF-7_Human0.98199215
144* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.97848601
145* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.95898728
146PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93938504
147SOX9_24532713_ChIP-Seq_HFSC_Mouse0.93715282
148KDM2B_26808549_Chip-Seq_DND41_Human0.93443504
149KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.93350194
150PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.90958248
151BRD4_25478319_ChIP-Seq_HGPS_Human0.90675592
152CJUN_26792858_Chip-Seq_BT549_Human0.89450011
153TCF7_22412390_ChIP-Seq_EML_Mouse0.89327451
154TP63_23658742_ChIP-Seq_EP156T_Human0.88305136
155TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.86423866
156EZH2_27294783_Chip-Seq_NPCs_Mouse0.86386386
157TFEB_21752829_ChIP-Seq_HELA_Human0.86333243
158NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85923558
159KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.84284072
160LXR_22292898_ChIP-Seq_THP-1_Human0.84244906
161SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.84015773
162RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.83923115
163FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.83698361
164GATA2_19941826_ChIP-Seq_K562_Human0.83184605
165HIF1A_21447827_ChIP-Seq_MCF-7_Human0.83136305
166RXR_22108803_ChIP-Seq_LS180_Human0.82272318
167EP300_21415370_ChIP-Seq_HL-1_Mouse0.81963097
168CDX2_19796622_ChIP-Seq_MESCs_Mouse0.79412878
169FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79393467
170BRD4_27068464_Chip-Seq_AML-cells_Mouse0.78921699

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development4.81182071
2MP0002139_abnormal_hepatobiliary_system4.76188369
3MP0005365_abnormal_bile_salt3.77129261
4MP0005360_urolithiasis3.73967224
5MP0005085_abnormal_gallbladder_physiolo3.43416604
6MP0002877_abnormal_melanocyte_morpholog3.36622161
7MP0003705_abnormal_hypodermis_morpholog3.32168291
8MP0003252_abnormal_bile_duct3.22554256
9MP0003195_calcinosis2.79129615
10MP0009780_abnormal_chondrocyte_physiolo2.76277005
11MP0000751_myopathy2.71802548
12MP0003300_gastrointestinal_ulcer2.61015168
13MP0001666_abnormal_nutrient_absorption2.38837450
14MP0004233_abnormal_muscle_weight2.37466873
15MP0004957_abnormal_blastocyst_morpholog2.33579870
16MP0010234_abnormal_vibrissa_follicle2.31936025
17MP0000749_muscle_degeneration2.31172477
18MP0004084_abnormal_cardiac_muscle2.31000935
19MP0005451_abnormal_body_composition2.30513134
20MP0004036_abnormal_muscle_relaxation2.29818847
21MP0008875_abnormal_xenobiotic_pharmacok2.24143320
22MP0005083_abnormal_biliary_tract2.23968911
23MP0008057_abnormal_DNA_replication2.19686680
24MP0002909_abnormal_adrenal_gland2.18037385
25MP0004264_abnormal_extraembryonic_tissu2.17542716
26MP0010329_abnormal_lipoprotein_level2.13527302
27MP0002254_reproductive_system_inflammat2.09307472
28MP0000013_abnormal_adipose_tissue2.03603202
29MP0003950_abnormal_plasma_membrane2.02161117
30MP0003646_muscle_fatigue2.01490177
31MP0001944_abnormal_pancreas_morphology1.98687192
32MP0004145_abnormal_muscle_electrophysio1.97725106
33MP0003283_abnormal_digestive_organ1.97328073
34MP0004043_abnormal_pH_regulation1.91429780
35MP0009840_abnormal_foam_cell1.88747805
36MP0002693_abnormal_pancreas_physiology1.87747332
37MP0003890_abnormal_embryonic-extraembry1.82580425
38MP0001661_extended_life_span1.82109647
39MP0005220_abnormal_exocrine_pancreas1.81244131
40MP0003806_abnormal_nucleotide_metabolis1.79456946
41MP0003868_abnormal_feces_composition1.75939330
42MP0008438_abnormal_cutaneous_collagen1.73057907
43MP0003693_abnormal_embryo_hatching1.69728481
44MP0000003_abnormal_adipose_tissue1.67585617
45MP0009697_abnormal_copulation1.64085386
46MP0005330_cardiomyopathy1.62380863
47MP0005076_abnormal_cell_differentiation1.61779658
48MP0000609_abnormal_liver_physiology1.60161129
49MP0002896_abnormal_bone_mineralization1.58935959
50MP0010352_gastrointestinal_tract_polyps1.58628866
51MP0000759_abnormal_skeletal_muscle1.57434182
52MP0001730_embryonic_growth_arrest1.57090003
53MP0002106_abnormal_muscle_physiology1.56460438
54MP0004185_abnormal_adipocyte_glucose1.56329891
55MP0002078_abnormal_glucose_homeostasis1.54421335
56MP0002118_abnormal_lipid_homeostasis1.52441475
57MP0005058_abnormal_lysosome_morphology1.51613006
58MP0010630_abnormal_cardiac_muscle1.48793945
59MP0005332_abnormal_amino_acid1.46722283
60MP0003566_abnormal_cell_adhesion1.43924126
61MP0002138_abnormal_hepatobiliary_system1.43411700
62MP0006054_spinal_hemorrhage1.41787089
63MP0008932_abnormal_embryonic_tissue1.39089876
64MP0009643_abnormal_urine_homeostasis1.38973535
65MP0010094_abnormal_chromosome_stability1.37826827
66MP0005369_muscle_phenotype1.36367053
67MP0003111_abnormal_nucleus_morphology1.32935710
68MP0002796_impaired_skin_barrier1.31849256
69MP0005375_adipose_tissue_phenotype1.30739642
70MP0005620_abnormal_muscle_contractility1.29331644
71MP0003567_abnormal_fetal_cardiomyocyte1.28617279
72MP0003984_embryonic_growth_retardation1.27631667
73MP0000579_abnormal_nail_morphology1.24900679
74MP0001672_abnormal_embryogenesis/_devel1.24205004
75MP0005380_embryogenesis_phenotype1.24205004
76MP0002088_abnormal_embryonic_growth/wei1.24080778
77MP0002837_dystrophic_cardiac_calcinosis1.22814567
78MP0008961_abnormal_basal_metabolism1.22197319
79MP0000762_abnormal_tongue_morphology1.21204555
80MP0005319_abnormal_enzyme/_coenzyme1.20495018
81MP0009703_decreased_birth_body1.18640515
82MP0003183_abnormal_peptide_metabolism1.17891545
83MP0002084_abnormal_developmental_patter1.17628955
84MP0010030_abnormal_orbit_morphology1.17187449
85MP0004130_abnormal_muscle_cell1.17161711
86MP0003191_abnormal_cellular_cholesterol1.16805085
87MP0002972_abnormal_cardiac_muscle1.16187751
88MP0001915_intracranial_hemorrhage1.16073868
89MP0003221_abnormal_cardiomyocyte_apopto1.15738952
90MP0002108_abnormal_muscle_morphology1.15038965
91MP0004215_abnormal_myocardial_fiber1.13490707
92MP0005275_abnormal_skin_tensile1.12255484
93MP0005666_abnormal_adipose_tissue1.12012908
94MP0001756_abnormal_urination1.11160344
95MP0003077_abnormal_cell_cycle1.10287134
96MP0003172_abnormal_lysosome_physiology1.10101104
97MP0001697_abnormal_embryo_size1.09932788
98MP0008007_abnormal_cellular_replicative1.08562389
99MP0002086_abnormal_extraembryonic_tissu1.08112535
100MP0004197_abnormal_fetal_growth/weight/1.07826239
101MP0000350_abnormal_cell_proliferation1.06254466
102MP0002928_abnormal_bile_duct1.05623270
103MP0003045_fibrosis1.05621914
104MP0008877_abnormal_DNA_methylation1.05409538
105MP0000750_abnormal_muscle_regeneration1.03264868
106MP0002085_abnormal_embryonic_tissue1.01637736
107MP0000428_abnormal_craniofacial_morphol1.00733554
108MP0006138_congestive_heart_failure1.00615880
109MP0001765_abnormal_ion_homeostasis0.99843980
110MP0010307_abnormal_tumor_latency0.98293703
111MP0002697_abnormal_eye_size0.98084604
112MP0008058_abnormal_DNA_repair0.98036924
113MP0005623_abnormal_meninges_morphology0.96668385
114MP0002080_prenatal_lethality0.96575555
115MP0005257_abnormal_intraocular_pressure0.94972737
116MP0010386_abnormal_urinary_bladder0.94424259
117MP0000604_amyloidosis0.93515078
118MP0002168_other_aberrant_phenotype0.93045827
119MP0003303_peritoneal_inflammation0.92197940
120MP0003937_abnormal_limbs/digits/tail_de0.92120367
121MP0000598_abnormal_liver_morphology0.90144389
122MP0005334_abnormal_fat_pad0.87129284
123MP0005248_abnormal_Harderian_gland0.85975059
124MP0009384_cardiac_valve_regurgitation0.85462291
125MP0003718_maternal_effect0.84814404
126MP0000266_abnormal_heart_morphology0.83004208
127MP0004272_abnormal_basement_membrane0.82738751
128MP0003959_abnormal_lean_body0.81629561
129MP0003385_abnormal_body_wall0.81491841
130MP0002971_abnormal_brown_adipose0.81117600
131MP0009672_abnormal_birth_weight0.80795737
132MP0010368_abnormal_lymphatic_system0.80576148
133MP0001544_abnormal_cardiovascular_syste0.80011572
134MP0005385_cardiovascular_system_phenoty0.80011572
135MP0005023_abnormal_wound_healing0.77109235
136MP0002009_preneoplasia0.76955897
137MP0005448_abnormal_energy_balance0.76623437
138MP0002295_abnormal_pulmonary_circulatio0.76554002
139MP0000432_abnormal_head_morphology0.76428868
140MP0002269_muscular_atrophy0.75882713
141MP0005187_abnormal_penis_morphology0.75787901
142MP0004019_abnormal_vitamin_homeostasis0.74942006
143MP0003953_abnormal_hormone_level0.74795976
144MP0005501_abnormal_skin_physiology0.74378028
145MP0001849_ear_inflammation0.73130839
146MP0005670_abnormal_white_adipose0.72896994
147MP0000747_muscle_weakness0.71966095
148MP0000569_abnormal_digit_pigmentation0.71013942
149MP0005636_abnormal_mineral_homeostasis0.70547630
150MP0002925_abnormal_cardiovascular_devel0.70161432
151MP0002060_abnormal_skin_morphology0.69580859
152MP0001881_abnormal_mammary_gland0.69433107
153MP0005535_abnormal_body_temperature0.67698220
154MP0001299_abnormal_eye_distance/0.67373901
155MP0009642_abnormal_blood_homeostasis0.66265458
156MP0005408_hypopigmentation0.65849680
157MP0003329_amyloid_beta_deposits0.65773688
158MP0005584_abnormal_enzyme/coenzyme_acti0.65253110
159MP0005379_endocrine/exocrine_gland_phen0.61713204
160MP0002234_abnormal_pharynx_morphology0.60700166
161MP0004947_skin_inflammation0.59200462
162MP0000462_abnormal_digestive_system0.58841194
163MP0003795_abnormal_bone_structure0.58277080
164MP0003091_abnormal_cell_migration0.58221380
165MP0004087_abnormal_muscle_fiber0.57587211
166MP0000613_abnormal_salivary_gland0.57512371
167MP0000733_abnormal_muscle_development0.57449987
168MP0000678_abnormal_parathyroid_gland0.56900482
169MP0003656_abnormal_erythrocyte_physiolo0.55902782

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)6.95493056
2Muscle fiber inclusion bodies (HP:0100299)6.60041093
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.59367866
4Exercise-induced muscle cramps (HP:0003710)5.21185758
5Exercise-induced myalgia (HP:0003738)4.25426208
6Distal arthrogryposis (HP:0005684)4.22614773
7Hypoglycemic coma (HP:0001325)4.20622087
8Hyperinsulinemic hypoglycemia (HP:0000825)4.11570458
9Deep venous thrombosis (HP:0002625)4.07466960
10Intrahepatic cholestasis (HP:0001406)4.01638543
11Hypoglycemic seizures (HP:0002173)3.96083302
12Abnormality of the common coagulation pathway (HP:0010990)3.88651691
13Abnormality of the intrinsic pathway (HP:0010989)3.70178056
14Hyperglycemia (HP:0003074)3.60133941
15Xanthomatosis (HP:0000991)3.54609604
16Abnormality of aromatic amino acid family metabolism (HP:0004338)3.48116920
17Abnormality of monocarboxylic acid metabolism (HP:0010996)3.44465030
18Ketoacidosis (HP:0001993)3.41194529
19Rimmed vacuoles (HP:0003805)3.31938868
20Round ear (HP:0100830)3.30364477
21Muscle hypertrophy of the lower extremities (HP:0008968)3.28904062
22Calf muscle hypertrophy (HP:0008981)3.16557122
23Right ventricular cardiomyopathy (HP:0011663)3.14589714
24Calcaneovalgus deformity (HP:0001848)3.11638837
25Symptomatic seizures (HP:0011145)3.10065522
26Complement deficiency (HP:0004431)3.02277533
27Centrally nucleated skeletal muscle fibers (HP:0003687)3.00398873
28Ketosis (HP:0001946)3.00149264
29Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.91886617
30Subaortic stenosis (HP:0001682)2.90811752
31Abnormality of the left ventricular outflow tract (HP:0011103)2.90811752
32Abnormality of skeletal muscle fiber size (HP:0012084)2.88918501
33Neck muscle weakness (HP:0000467)2.87247890
34Skin nodule (HP:0200036)2.86249528
35EMG: myopathic abnormalities (HP:0003458)2.85941837
36Deformed tarsal bones (HP:0008119)2.81612655
37Mucopolysacchariduria (HP:0008155)2.81061599
38Urinary glycosaminoglycan excretion (HP:0003541)2.81061599
39Increased connective tissue (HP:0009025)2.80910906
40Abnormality of the calf musculature (HP:0001430)2.76237149
41Insulin-resistant diabetes mellitus (HP:0000831)2.75107791
42Abnormality of endocrine pancreas physiology (HP:0012093)2.73336392
43Abnormality of the pancreatic islet cells (HP:0006476)2.73336392
44Myopathic facies (HP:0002058)2.71830008
45Fat malabsorption (HP:0002630)2.68555880
46Conjugated hyperbilirubinemia (HP:0002908)2.64834529
47Ulnar deviation of the wrist (HP:0003049)2.64498411
48Rhabdomyolysis (HP:0003201)2.62264110
49Late onset (HP:0003584)2.61965485
50Hypobetalipoproteinemia (HP:0003563)2.58575845
51Myoglobinuria (HP:0002913)2.55809162
52Back pain (HP:0003418)2.54828812
53Muscle fiber splitting (HP:0003555)2.54599064
54Abnormality of mucopolysaccharide metabolism (HP:0011020)2.54281714
55Abnormality of polysaccharide metabolism (HP:0011012)2.54281714
56Abnormality of glycosaminoglycan metabolism (HP:0004371)2.54281714
57Breech presentation (HP:0001623)2.52975823
58Epidermoid cyst (HP:0200040)2.51204515
59Abnormality of the calcaneus (HP:0008364)2.48572290
60Increased variability in muscle fiber diameter (HP:0003557)2.48378018
61Hyporeflexia of lower limbs (HP:0002600)2.46738167
62Myocardial infarction (HP:0001658)2.42625999
63Shoulder girdle muscle weakness (HP:0003547)2.40626417
64Spinal rigidity (HP:0003306)2.38563021
65Protuberant abdomen (HP:0001538)2.37381777
66Prolonged partial thromboplastin time (HP:0003645)2.36487553
67Dysostosis multiplex (HP:0000943)2.36262111
68Abnormality of purine metabolism (HP:0004352)2.35865322
69Pancreatic islet-cell hyperplasia (HP:0004510)2.33358010
70Ventricular tachycardia (HP:0004756)2.32475074
71Difficulty running (HP:0009046)2.31604693
72Biliary tract neoplasm (HP:0100574)2.30473644
73Aneurysm (HP:0002617)2.29367823
74Nephroblastoma (Wilms tumor) (HP:0002667)2.28588688
75Abnormality of glutamine family amino acid metabolism (HP:0010902)2.27571614
76Papillary thyroid carcinoma (HP:0002895)2.27264188
77Abnormality of sulfur amino acid metabolism (HP:0004339)2.25968853
78Hypolipoproteinemia (HP:0010981)2.24372684
79Hypoalphalipoproteinemia (HP:0003233)2.23451102
80Abnormality of complement system (HP:0005339)2.21931247
81Gout (HP:0001997)2.20273779
82Sudden death (HP:0001699)2.19713124
83Turricephaly (HP:0000262)2.19674833
84Embryonal renal neoplasm (HP:0011794)2.18881806
85Hyperlipoproteinemia (HP:0010980)2.18110522
86Macroorchidism (HP:0000053)2.17515206
87Cerebral aneurysm (HP:0004944)2.12487664
88Popliteal pterygium (HP:0009756)2.11597789
89Limb-girdle muscle weakness (HP:0003325)2.08804932
90Hypoplastic ischia (HP:0003175)2.07417219
91Insulin resistance (HP:0000855)2.06277375
92Abdominal distention (HP:0003270)2.03407759
93Pterygium (HP:0001059)2.03232450
94Hepatocellular carcinoma (HP:0001402)2.03174261
95Abnormality of the ischium (HP:0003174)2.02710650
96Protrusio acetabuli (HP:0003179)2.02241162
97Abnormality of the hip-girdle musculature (HP:0001445)2.01721319
98Abnormality of the musculature of the pelvis (HP:0001469)2.01721319
99Pelvic girdle muscle weakness (HP:0003749)2.00509318
100Global brain atrophy (HP:0002283)2.00438682
101Thoracolumbar scoliosis (HP:0002944)1.99128559
102Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.98624417
103Retinal atrophy (HP:0001105)1.96858420
104Rhabdomyosarcoma (HP:0002859)1.96735177
105Bundle branch block (HP:0011710)1.95233594
106Progressive external ophthalmoplegia (HP:0000590)1.94889035
107Distal lower limb muscle weakness (HP:0009053)1.94126207
108Mildly elevated creatine phosphokinase (HP:0008180)1.93078735
109Muscle stiffness (HP:0003552)1.88809553
110Malignant hyperthermia (HP:0002047)1.88233191
111Cortical dysplasia (HP:0002539)1.88119000
112Neoplasm of the small intestine (HP:0100833)1.87493162
113Osteolytic defects of the phalanges of the hand (HP:0009771)1.87344740
114Osteolytic defects of the hand bones (HP:0009699)1.87344740
115Sensorimotor neuropathy (HP:0007141)1.86960249
116Long toe (HP:0010511)1.86390729
117Mitral stenosis (HP:0001718)1.85933216
118Abnormal delivery (HP:0001787)1.85705467
119Ankle contracture (HP:0006466)1.84739642
120Cervical subluxation (HP:0003308)1.84336100
121Abnormal cartilage morphology (HP:0002763)1.84159055
122Slender build (HP:0001533)1.81949911
123Hyperglycinuria (HP:0003108)1.81657182
124Metaphyseal cupping (HP:0003021)1.81484694
125Agitation (HP:0000713)1.81320099
126Hyperammonemia (HP:0001987)1.81103576
127Absent phalangeal crease (HP:0006109)1.80843917
128Hyperglycinemia (HP:0002154)1.80593826
129Ankyloglossia (HP:0010296)1.80007052
130Abnormal gallbladder morphology (HP:0012437)1.79524975
131Premature rupture of membranes (HP:0001788)1.79431872
132Flat acetabular roof (HP:0003180)1.79413703
133Hand muscle atrophy (HP:0009130)1.78289868
134Dilated cardiomyopathy (HP:0001644)1.77153633
135Abnormal enzyme/coenzyme activity (HP:0012379)1.77132510
136Lipoatrophy (HP:0100578)1.77018180
137Multiple enchondromatosis (HP:0005701)1.76835649
138Mitral valve prolapse (HP:0001634)1.76697707
139Metatarsus adductus (HP:0001840)1.76123276
140Progressive muscle weakness (HP:0003323)1.74843826
141Abnormal pancreas size (HP:0012094)1.74710302
142Increased nuchal translucency (HP:0010880)1.74632743
143Large for gestational age (HP:0001520)1.74243401
144Distal upper limb amyotrophy (HP:0007149)1.74234362
145Upper limb amyotrophy (HP:0009129)1.74234362
146Neoplasm of the rectum (HP:0100743)1.74042265
147Abnormal tarsal ossification (HP:0008369)1.74024024
148Hepatoblastoma (HP:0002884)1.74012975
149Malignant gastrointestinal tract tumors (HP:0006749)1.73675876
150Gastrointestinal carcinoma (HP:0002672)1.73675876
151Lower limb amyotrophy (HP:0007210)1.73642228
152Colon cancer (HP:0003003)1.73266906
153Subacute progressive viral hepatitis (HP:0006572)1.73129260
154Limb-girdle muscle atrophy (HP:0003797)1.72589837
155Scapular winging (HP:0003691)1.71182908
156Hydroxyprolinuria (HP:0003080)1.71173066
157Abnormality of proline metabolism (HP:0010907)1.71173066
158Exostoses (HP:0100777)1.71136579
159Elevated alkaline phosphatase (HP:0003155)1.70880472
160Esophageal varix (HP:0002040)1.70226741
161Unilateral renal agenesis (HP:0000122)1.69828933
162Distal lower limb amyotrophy (HP:0008944)1.69623785
163Abnormal foot bone ossification (HP:0010675)1.69031735
164Abnormality of alkaline phosphatase activity (HP:0004379)1.68813513
165Exocrine pancreatic insufficiency (HP:0001738)1.68330227
166Abnormality of nucleobase metabolism (HP:0010932)1.67836520
167Microglossia (HP:0000171)1.67231127
168Severe short stature (HP:0003510)1.66432061
169Steatorrhea (HP:0002570)1.66023299
170Enlarged penis (HP:0000040)1.65720262
171Abnormality of glycine metabolism (HP:0010895)1.65374241
172Abnormality of serine family amino acid metabolism (HP:0010894)1.65374241
173Joint hemorrhage (HP:0005261)1.65042472
174Hyperbilirubinemia (HP:0002904)1.64852611
175Thin bony cortex (HP:0002753)1.64082346
176Type 1 muscle fiber predominance (HP:0003803)1.63692366
177Abnormality of the salivary glands (HP:0010286)1.63475558
178Arterial tortuosity (HP:0005116)1.62867893
179Spastic diplegia (HP:0001264)1.62765872
180Asymmetric septal hypertrophy (HP:0001670)1.61565780
181Overgrowth (HP:0001548)1.58936543
182Trismus (HP:0000211)1.58734998
183Atrophic scars (HP:0001075)1.57422046
184Hyperkalemia (HP:0002153)1.57109876
185Amniotic constriction ring (HP:0009775)1.55952076
186Abnormality of placental membranes (HP:0011409)1.55952076
187Abnormality of the shoulder girdle musculature (HP:0001435)1.55938240
188Uterine neoplasm (HP:0010784)1.55875646
189Vascular tortuosity (HP:0004948)1.55778674
190Wide nose (HP:0000445)1.55399848

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN4.70153518
2ERN14.42890977
3TAOK34.22621283
4TRIB33.93631092
5LATS12.98653727
6TTK2.90876306
7FRK2.80242362
8INSRR2.80059528
9PKN22.73263125
10NEK12.65708294
11EIF2AK32.48397743
12MAP3K22.39450919
13SIK12.32017509
14PBK2.26197101
15TSSK62.22547949
16PTK62.18473212
17PDGFRA2.04730872
18PRKD31.98493628
19STK38L1.91540687
20SCYL21.81046209
21TAF11.79451230
22RIPK11.77866873
23MST41.66862923
24STK241.65822590
25IRAK31.62691817
26CDC71.59062367
27BCKDK1.54852171
28PTK21.47758648
29PNCK1.44515240
30EIF2AK11.43227930
31AKT31.42372915
32PHKG21.41488891
33PHKG11.41488891
34MAP3K11.39930071
35PLK31.36774421
36FGFR41.35363888
37BRSK21.32606974
38MKNK11.32497399
39CAMK1D1.30874845
40KSR21.30505895
41RET1.30282319
42PASK1.29925670
43MAP3K101.29237481
44CDK121.28181067
45HIPK21.25942603
46CAMK1G1.24966548
47PIK3CG1.21698404
48NLK1.20424111
49FLT31.19376535
50TTN1.19293910
51JAK11.14145395
52NEK91.11151704
53PRKCH1.10591537
54JAK21.09121602
55ERBB41.07835327
56DDR21.07298413
57TRPM71.06295282
58MET1.06279536
59MAP3K31.04402100
60SRPK11.03425994
61BUB11.03068969
62MTOR1.02793229
63PDK21.02251584
64TNIK0.97891501
65EPHB10.95979473
66PAK30.95159777
67STK30.93906195
68MKNK20.93822852
69SMG10.92870760
70PAK40.91747234
71FGFR30.91715420
72NTRK10.90132990
73MAP2K30.89231842
74CDK60.88153039
75PLK40.88100279
76FER0.88078180
77EEF2K0.87619889
78MAP3K90.87216621
79PDGFRB0.86321085
80CDC42BPA0.85723190
81WNK40.85295791
82LRRK20.83069263
83RPS6KB20.81890232
84ERBB30.81855531
85PLK10.79415030
86MYLK0.79341439
87EPHA30.77544243
88MAP2K40.76751151
89TAOK10.76196471
90DYRK30.74238739
91NME10.72817814
92CHEK10.72815079
93NEK20.70852319
94TIE10.70383507
95PRKAA10.69119737
96CAMKK10.68888350
97BMX0.68818372
98SGK30.68208796
99EPHA20.67794364
100ALK0.66144934
101ATM0.64264754
102BRAF0.63824524
103ACVR1B0.63490201
104MAP3K80.62892131
105MAP2K10.62765424
106DMPK0.61942001
107EIF2AK20.61816442
108PAK20.59406268
109WNK10.59113492
110MAP3K50.57960795
111MAP3K70.57679791
112GSK3A0.57577454
113LATS20.57343215
114BRD40.57256770
115FGFR10.56740921
116PDPK10.56530650
117MST1R0.55083598
118AKT20.53912317
119PRKD10.52928839
120DYRK1B0.51342531
121JAK30.51169894
122CSNK1E0.50898274
123STK100.50461474
124PRKAA20.50119540
125TYK20.49380910
126TGFBR10.48849905
127CDK70.48833727
128CDK190.47316297
129AURKB0.47112477
130MAP3K120.46379383
131WEE10.44944275
132YES10.44934622
133PRKDC0.43861689
134TGFBR20.43509990
135CHEK20.43381507
136FGFR20.43356306
137STK40.42720698
138EGFR0.42175443
139NUAK10.41348197
140MAP2K20.40950958
141ICK0.40879104
142PRKG20.40273533
143BCR0.39960574
144KSR10.38570970
145MAPK110.38071024
146PDK10.37952726
147MAPK150.37666552
148RPS6KA20.35925987
149MAP3K60.35041338
150IGF1R0.33656713
151ABL20.33392503
152CDK90.32242434
153PRKD20.31923865
154PRKACG0.30423365
155RPS6KB10.29408840
156CHUK0.29370323
157ERBB20.28421978
158MELK0.27997723
159IRAK10.27888500
160ZAP700.27239960

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.34301088
2Nitrogen metabolism_Homo sapiens_hsa009103.31580648
3Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.62541784
4Non-homologous end-joining_Homo sapiens_hsa034502.54836052
5Primary bile acid biosynthesis_Homo sapiens_hsa001202.50098143
6Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.36083979
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.26041764
8Sulfur metabolism_Homo sapiens_hsa009202.23756162
9Arginine biosynthesis_Homo sapiens_hsa002202.22889859
10Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.20441263
11Tryptophan metabolism_Homo sapiens_hsa003801.99599570
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.98082339
13Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.94831245
14Mismatch repair_Homo sapiens_hsa034301.80434017
15Selenocompound metabolism_Homo sapiens_hsa004501.73568246
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.71775182
17Complement and coagulation cascades_Homo sapiens_hsa046101.69430512
18Fatty acid degradation_Homo sapiens_hsa000711.66741762
19RNA transport_Homo sapiens_hsa030131.63729363
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.62121038
21Protein export_Homo sapiens_hsa030601.59054861
22Dilated cardiomyopathy_Homo sapiens_hsa054141.57350697
23Fat digestion and absorption_Homo sapiens_hsa049751.55760716
24Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50343035
25Starch and sucrose metabolism_Homo sapiens_hsa005001.42778787
26Type II diabetes mellitus_Homo sapiens_hsa049301.39454710
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39298524
28Cell cycle_Homo sapiens_hsa041101.38248282
29Bile secretion_Homo sapiens_hsa049761.37140074
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35884268
31Pentose phosphate pathway_Homo sapiens_hsa000301.35714901
32Insulin resistance_Homo sapiens_hsa049311.35486290
33One carbon pool by folate_Homo sapiens_hsa006701.35386761
34Tight junction_Homo sapiens_hsa045301.34736713
35Steroid biosynthesis_Homo sapiens_hsa001001.34718048
36mRNA surveillance pathway_Homo sapiens_hsa030151.31531419
37PPAR signaling pathway_Homo sapiens_hsa033201.30792886
38Butanoate metabolism_Homo sapiens_hsa006501.26797003
39DNA replication_Homo sapiens_hsa030301.26667036
40Lysine degradation_Homo sapiens_hsa003101.17286946
41Nucleotide excision repair_Homo sapiens_hsa034201.16939829
42Carbohydrate digestion and absorption_Homo sapiens_hsa049731.16535291
43Caffeine metabolism_Homo sapiens_hsa002321.16489825
44Fatty acid metabolism_Homo sapiens_hsa012121.12281003
45Pentose and glucuronate interconversions_Homo sapiens_hsa000401.10336784
46Insulin secretion_Homo sapiens_hsa049111.09313879
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.08732722
48Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07652665
49ABC transporters_Homo sapiens_hsa020101.06864813
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.06325156
51Circadian rhythm_Homo sapiens_hsa047101.05849292
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.03291518
53Propanoate metabolism_Homo sapiens_hsa006401.01181163
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.97702654
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96035070
56Vitamin B6 metabolism_Homo sapiens_hsa007500.95747808
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.94188049
58Staphylococcus aureus infection_Homo sapiens_hsa051500.92617617
59Histidine metabolism_Homo sapiens_hsa003400.91661483
60Glucagon signaling pathway_Homo sapiens_hsa049220.90416225
61MicroRNAs in cancer_Homo sapiens_hsa052060.89294752
62Lysosome_Homo sapiens_hsa041420.89281976
63mTOR signaling pathway_Homo sapiens_hsa041500.88146485
64Thyroid hormone synthesis_Homo sapiens_hsa049180.87860874
65TGF-beta signaling pathway_Homo sapiens_hsa043500.87738161
66Peroxisome_Homo sapiens_hsa041460.85192989
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.85150541
68Protein digestion and absorption_Homo sapiens_hsa049740.84099799
69Prion diseases_Homo sapiens_hsa050200.83917469
70Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.78533244
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.78321282
72Small cell lung cancer_Homo sapiens_hsa052220.78127486
73Phenylalanine metabolism_Homo sapiens_hsa003600.76447212
74beta-Alanine metabolism_Homo sapiens_hsa004100.75738096
75Bladder cancer_Homo sapiens_hsa052190.73396960
76Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72712138
77Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.72085769
78Adipocytokine signaling pathway_Homo sapiens_hsa049200.71126060
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.71082141
80RNA degradation_Homo sapiens_hsa030180.70974577
81Pancreatic secretion_Homo sapiens_hsa049720.69872984
82Hippo signaling pathway_Homo sapiens_hsa043900.69780095
83Oocyte meiosis_Homo sapiens_hsa041140.69144107
84Fructose and mannose metabolism_Homo sapiens_hsa000510.67938870
85Amoebiasis_Homo sapiens_hsa051460.67513476
86AMPK signaling pathway_Homo sapiens_hsa041520.66474166
87Glycerolipid metabolism_Homo sapiens_hsa005610.65636940
88Basal transcription factors_Homo sapiens_hsa030220.65515317
89Fatty acid elongation_Homo sapiens_hsa000620.64276461
90Spliceosome_Homo sapiens_hsa030400.63912793
91Insulin signaling pathway_Homo sapiens_hsa049100.63878118
92Dorso-ventral axis formation_Homo sapiens_hsa043200.61918563
93Pyruvate metabolism_Homo sapiens_hsa006200.61780722
94Adherens junction_Homo sapiens_hsa045200.61289526
95Focal adhesion_Homo sapiens_hsa045100.61056847
96Chemical carcinogenesis_Homo sapiens_hsa052040.60261452
97Wnt signaling pathway_Homo sapiens_hsa043100.59916347
98Folate biosynthesis_Homo sapiens_hsa007900.59912672
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.59777259
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59575186
101Galactose metabolism_Homo sapiens_hsa000520.59017077
102Type I diabetes mellitus_Homo sapiens_hsa049400.58751007
103p53 signaling pathway_Homo sapiens_hsa041150.56750271
104Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56739449
105Drug metabolism - other enzymes_Homo sapiens_hsa009830.56638515
106Prolactin signaling pathway_Homo sapiens_hsa049170.56549259
107Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.56367762
108Prostate cancer_Homo sapiens_hsa052150.56185020
109N-Glycan biosynthesis_Homo sapiens_hsa005100.56025377
110Glutathione metabolism_Homo sapiens_hsa004800.55226177
111Proteoglycans in cancer_Homo sapiens_hsa052050.51596074
112Estrogen signaling pathway_Homo sapiens_hsa049150.51439178
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51390634
114Chronic myeloid leukemia_Homo sapiens_hsa052200.51166322
115Tyrosine metabolism_Homo sapiens_hsa003500.49840103
116Steroid hormone biosynthesis_Homo sapiens_hsa001400.49548497
117Carbon metabolism_Homo sapiens_hsa012000.48462177
118Biosynthesis of amino acids_Homo sapiens_hsa012300.48023482
119ECM-receptor interaction_Homo sapiens_hsa045120.47937691
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.47003845
121Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46282001
122Arginine and proline metabolism_Homo sapiens_hsa003300.45872049
123Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45449460
124Melanoma_Homo sapiens_hsa052180.45235224
125AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.44936666
126Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.44396259
127Endometrial cancer_Homo sapiens_hsa052130.44267393
128Vibrio cholerae infection_Homo sapiens_hsa051100.43525244
129Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42504257
130Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42111933
131Colorectal cancer_Homo sapiens_hsa052100.41680700
132Central carbon metabolism in cancer_Homo sapiens_hsa052300.39773384
133cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37046548
134Pathways in cancer_Homo sapiens_hsa052000.36422823
135Leukocyte transendothelial migration_Homo sapiens_hsa046700.35624140
136Renin-angiotensin system_Homo sapiens_hsa046140.35299096
137Renal cell carcinoma_Homo sapiens_hsa052110.34624835
138Glioma_Homo sapiens_hsa052140.34161425
139Aldosterone synthesis and secretion_Homo sapiens_hsa049250.34125852
140Pancreatic cancer_Homo sapiens_hsa052120.33889339
141Cysteine and methionine metabolism_Homo sapiens_hsa002700.32722403
142Neurotrophin signaling pathway_Homo sapiens_hsa047220.32494406
143Fatty acid biosynthesis_Homo sapiens_hsa000610.31154703
144Thyroid cancer_Homo sapiens_hsa052160.30390913
145Vitamin digestion and absorption_Homo sapiens_hsa049770.29653053

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