ECE1

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 involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)6.83178801
2Golgi transport vesicle coating (GO:0048200)6.83178801
3maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.92476164
4COPII vesicle coating (GO:0048208)4.63396673
5endocrine pancreas development (GO:0031018)4.52747529
6cell adhesion mediated by integrin (GO:0033627)4.41752194
7skin morphogenesis (GO:0043589)4.41143958
8protein retention in ER lumen (GO:0006621)4.27667855
9blood vessel maturation (GO:0001955)4.25386676
10wound healing, spreading of epidermal cells (GO:0035313)4.08631988
11signal peptide processing (GO:0006465)4.07543110
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.02379916
13L-phenylalanine catabolic process (GO:0006559)3.93738498
14erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.93738498
15xenobiotic catabolic process (GO:0042178)3.92530495
16protein localization to endosome (GO:0036010)3.87735677
17regulation of type B pancreatic cell apoptotic process (GO:2000674)3.84094301
18exocrine pancreas development (GO:0031017)3.78369211
19glandular epithelial cell differentiation (GO:0002067)3.72527968
20uronic acid metabolic process (GO:0006063)3.71507294
21glucuronate metabolic process (GO:0019585)3.71507294
22cellular glucuronidation (GO:0052695)3.64002280
23endodermal cell differentiation (GO:0035987)3.57674078
24sequestering of metal ion (GO:0051238)3.56686518
25basement membrane organization (GO:0071711)3.55984485
26erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.54897812
27L-phenylalanine metabolic process (GO:0006558)3.54897812
28cell-substrate junction assembly (GO:0007044)3.48360814
29positive regulation of blood vessel endothelial cell migration (GO:0043536)3.46378290
30glandular epithelial cell development (GO:0002068)3.43513716
31vascular endothelial growth factor signaling pathway (GO:0038084)3.42902282
32substrate-dependent cell migration (GO:0006929)3.39888547
33activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.38434528
34wound healing, spreading of cells (GO:0044319)3.37090344
35type B pancreatic cell development (GO:0003323)3.36557056
36response to nitrosative stress (GO:0051409)3.35287737
37barbed-end actin filament capping (GO:0051016)3.23866196
38protein heterotrimerization (GO:0070208)3.21973147
39aromatic amino acid family catabolic process (GO:0009074)3.21941471
40ER overload response (GO:0006983)3.20259894
41endothelium development (GO:0003158)3.19403823
42semaphorin-plexin signaling pathway (GO:0071526)3.18198526
43venous blood vessel morphogenesis (GO:0048845)3.16903252
44* peptide hormone processing (GO:0016486)3.16310757
45hemidesmosome assembly (GO:0031581)3.15020176
46vesicle coating (GO:0006901)3.15016893
47protein carboxylation (GO:0018214)3.14447250
48peptidyl-glutamic acid carboxylation (GO:0017187)3.14447250
49vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.14378930
50positive regulation of nuclease activity (GO:0032075)3.12975213
51hypotonic response (GO:0006971)3.11973760
52retina vasculature morphogenesis in camera-type eye (GO:0061299)3.08697239
53negative regulation of anoikis (GO:2000811)3.07821449
54negative regulation of fatty acid transport (GO:2000192)3.06780967
55high-density lipoprotein particle remodeling (GO:0034375)3.05999026
56regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.04336377
57stress fiber assembly (GO:0043149)3.01499847
58sulfur amino acid catabolic process (GO:0000098)2.99788020
59endothelial cell chemotaxis (GO:0035767)2.99128554
60regulation of cholesterol homeostasis (GO:2000188)2.98304304
61intestinal cholesterol absorption (GO:0030299)2.98132122
62endoplasmic reticulum unfolded protein response (GO:0030968)2.97073370
63regulation of cholesterol biosynthetic process (GO:0045540)2.96541806
64positive regulation of steroid biosynthetic process (GO:0010893)2.94788035
653-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.93555592
66purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.93555592
67toxin metabolic process (GO:0009404)2.92505890
68cellular response to unfolded protein (GO:0034620)2.92299525
69protein maturation by protein folding (GO:0022417)2.92073612
70regulation of cell migration involved in sprouting angiogenesis (GO:0090049)2.90526931
71nucleotide transmembrane transport (GO:1901679)2.90357218
72positive regulation of glycolytic process (GO:0045821)2.89877325
73tyrosine metabolic process (GO:0006570)2.88817394
74adherens junction assembly (GO:0034333)2.88664677
75dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.87196604
76cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.86584902
77reverse cholesterol transport (GO:0043691)2.85893324
78ER-nucleus signaling pathway (GO:0006984)2.84514095
79lymph vessel development (GO:0001945)2.83219391
80tryptophan metabolic process (GO:0006568)2.82935397
81phospholipid efflux (GO:0033700)2.81194515
82regulation of nuclease activity (GO:0032069)2.80429522
83renal absorption (GO:0070293)2.78762612
84cytoskeletal anchoring at plasma membrane (GO:0007016)2.78607144
85response to laminar fluid shear stress (GO:0034616)2.77167003
86cellular response to topologically incorrect protein (GO:0035967)2.76480390
87angiogenesis involved in wound healing (GO:0060055)2.76374327
88triglyceride homeostasis (GO:0070328)2.75375846
89acylglycerol homeostasis (GO:0055090)2.75375846
90positive regulation of insulin secretion (GO:0032024)2.74539622
91blood vessel endothelial cell migration (GO:0043534)2.73486284
92positive regulation of hormone biosynthetic process (GO:0046886)2.72871562
93mesodermal cell differentiation (GO:0048333)2.72859556
94cell-substrate adherens junction assembly (GO:0007045)2.71843068
95focal adhesion assembly (GO:0048041)2.71843068
96positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.70321442
97benzene-containing compound metabolic process (GO:0042537)2.69964868
98endothelial cell morphogenesis (GO:0001886)2.69729976
99positive regulation of steroid metabolic process (GO:0045940)2.69469630
100columnar/cuboidal epithelial cell development (GO:0002066)2.68898018
101surfactant homeostasis (GO:0043129)2.66874380
102positive regulation of endothelial cell apoptotic process (GO:2000353)2.66471047
103regulation of anoikis (GO:2000209)2.66041244
104regulation of transforming growth factor beta1 production (GO:0032908)2.65290593
105hyaluronan catabolic process (GO:0030214)2.65053642
106negative regulation of chondrocyte differentiation (GO:0032331)2.64829958
107lymphangiogenesis (GO:0001946)2.63986643
108cellular response to vitamin D (GO:0071305)2.63734918
109nitric oxide mediated signal transduction (GO:0007263)2.63369842
110regulation of hexokinase activity (GO:1903299)2.63280555
111regulation of glucokinase activity (GO:0033131)2.63280555
112regulation of cholesterol esterification (GO:0010872)2.62365903
113regulation of extracellular matrix disassembly (GO:0010715)2.62224597
114cell migration involved in sprouting angiogenesis (GO:0002042)2.60978882
115collagen metabolic process (GO:0032963)2.59416806
116homocysteine metabolic process (GO:0050667)2.59041159
117regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.58967592
118positive regulation of endothelial cell migration (GO:0010595)2.58881766
119complement activation, alternative pathway (GO:0006957)2.57800397
120indole-containing compound catabolic process (GO:0042436)2.56501047
121indolalkylamine catabolic process (GO:0046218)2.56501047
122tryptophan catabolic process (GO:0006569)2.56501047
123sprouting angiogenesis (GO:0002040)2.55947943
124interleukin-1-mediated signaling pathway (GO:0070498)2.55905202
125negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.55560913
126regulation of protein activation cascade (GO:2000257)2.54804377
127cell migration involved in heart development (GO:0060973)2.54727116
128lipoprotein metabolic process (GO:0042157)2.54062092
129L-ascorbic acid metabolic process (GO:0019852)2.53191726
130collagen fibril organization (GO:0030199)2.52979249
131regulation of early endosome to late endosome transport (GO:2000641)2.52440734
132regulation of blood vessel endothelial cell migration (GO:0043535)2.52413609
133bundle of His cell to Purkinje myocyte communication (GO:0086069)2.51937045
134atrioventricular valve morphogenesis (GO:0003181)2.51221050
135bile acid biosynthetic process (GO:0006699)2.51104905
136insulin secretion (GO:0030073)2.49931513
137drug transmembrane transport (GO:0006855)2.47572247
138morphogenesis of an endothelium (GO:0003159)2.46773447
139endothelial tube morphogenesis (GO:0061154)2.46773447
140alpha-linolenic acid metabolic process (GO:0036109)2.46329731
141extracellular fibril organization (GO:0043206)2.46256535
142negative regulation of adherens junction organization (GO:1903392)2.45894512
143negative regulation of focal adhesion assembly (GO:0051895)2.45894512
144negative regulation of cell junction assembly (GO:1901889)2.45894512
145extracellular matrix disassembly (GO:0022617)2.45750703
146fibril organization (GO:0097435)2.44894320
147collagen catabolic process (GO:0030574)2.44814286
148apoptotic cell clearance (GO:0043277)2.44583424
149negative regulation of fibrinolysis (GO:0051918)2.44576838
150negative regulation of protein activation cascade (GO:2000258)2.44348738
151regulation of complement activation (GO:0030449)2.43904947
152induction of positive chemotaxis (GO:0050930)2.43741219
153transcytosis (GO:0045056)2.43439291
154intestinal absorption (GO:0050892)2.43422545
155negative regulation of lipase activity (GO:0060192)2.43210261
156cellular zinc ion homeostasis (GO:0006882)2.43166689
157positive regulation of osteoblast proliferation (GO:0033690)2.42917125
158endocytic recycling (GO:0032456)2.42754836
159membrane protein ectodomain proteolysis (GO:0006509)2.42688095
1604-hydroxyproline metabolic process (GO:0019471)2.42325092
161regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.42156213
162regulation of insulin secretion (GO:0050796)2.41840342
163epithelial cell-cell adhesion (GO:0090136)2.41682577
164multicellular organismal macromolecule metabolic process (GO:0044259)2.40640274
165triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.40583873
166antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.37820223
167regulation of bile acid biosynthetic process (GO:0070857)2.37598497
168cholesterol efflux (GO:0033344)2.37361034
169regulation of fibrinolysis (GO:0051917)2.37170092
170positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.37145487
171positive regulation of epithelial cell migration (GO:0010634)2.36779375
172positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.36259434
173positive regulation of peptide hormone secretion (GO:0090277)2.36093081
174phospholipid homeostasis (GO:0055091)2.35832195
175endochondral ossification (GO:0001958)2.34847959
176replacement ossification (GO:0036075)2.34847959
177bile acid metabolic process (GO:0008206)2.34411285
178bile acid and bile salt transport (GO:0015721)2.33912714
179renal filtration (GO:0097205)2.33083068
180cortical actin cytoskeleton organization (GO:0030866)2.31317335
181peptidyl-proline hydroxylation (GO:0019511)2.31316081
182positive regulation of adherens junction organization (GO:1903393)2.29079680
183low-density lipoprotein particle clearance (GO:0034383)2.28496894
184positive regulation of Cdc42 GTPase activity (GO:0043089)2.27341648
185antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.26979835
186endothelial cell migration (GO:0043542)2.26318488
187multicellular organismal catabolic process (GO:0044243)2.26173437
188multicellular organismal metabolic process (GO:0044236)2.25961990
189negative regulation of blood vessel endothelial cell migration (GO:0043537)2.24966325
190* positive regulation of receptor recycling (GO:0001921)2.24818253
191insulin-like growth factor receptor signaling pathway (GO:0048009)2.24397931
192detection of molecule of bacterial origin (GO:0032490)2.23474186
193planar cell polarity pathway involved in neural tube closure (GO:0090179)2.22031941
194regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)2.21120702
195type B pancreatic cell proliferation (GO:0044342)2.20610531

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.98518379
2* RXR_22158963_ChIP-Seq_LIVER_Mouse4.19878721
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.88172412
4* LXR_22158963_ChIP-Seq_LIVER_Mouse3.80231243
5* PPARA_22158963_ChIP-Seq_LIVER_Mouse3.52541181
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.31747435
7TRIM28_21343339_ChIP-Seq_HEK293_Human3.28682416
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.10615492
9ELK3_25401928_ChIP-Seq_HUVEC_Human2.87733623
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.80809299
11CLOCK_20551151_ChIP-Seq_293T_Human2.75967525
12FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.73297845
13EGR1_23403033_ChIP-Seq_LIVER_Mouse2.71162197
14GATA1_22025678_ChIP-Seq_K562_Human2.56109209
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.46722862
16STAT6_21828071_ChIP-Seq_BEAS2B_Human2.44410799
17* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.33633781
18CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.22077109
19* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.21519204
20* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.15645155
21EGR1_19374776_ChIP-ChIP_THP-1_Human2.08722963
22FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.07194664
23RARG_19884340_ChIP-ChIP_MEFs_Mouse2.04608000
24PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.02386113
25LXR_22292898_ChIP-Seq_THP-1_Human1.97874324
26* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.94225288
27NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.90854096
28RACK7_27058665_Chip-Seq_MCF-7_Human1.89738992
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.89019084
30* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.82544189
31STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.81534750
32SMAD_19615063_ChIP-ChIP_OVARY_Human1.80589861
33* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.80457297
34KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.80390819
35* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.73230780
36* GATA2_21666600_ChIP-Seq_HMVEC_Human1.73048226
37* TCF7_22412390_ChIP-Seq_EML_Mouse1.73029488
38HIF1A_21447827_ChIP-Seq_MCF-7_Human1.71935163
39P300_27058665_Chip-Seq_ZR-75-30cells_Human1.69090185
40* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.67254746
41BP1_19119308_ChIP-ChIP_Hs578T_Human1.66445575
42* KDM2B_26808549_Chip-Seq_K562_Human1.65152496
43KDM2B_26808549_Chip-Seq_DND41_Human1.64027038
44DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.61918922
45FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.59116522
46* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.58914966
47ESR2_21235772_ChIP-Seq_MCF-7_Human1.51958318
48EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.51395521
49NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.51388266
50NRF2_20460467_ChIP-Seq_MEFs_Mouse1.51388266
51ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.51200161
52SOX2_20726797_ChIP-Seq_SW620_Human1.49891445
53BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.49135705
54MYB_21317192_ChIP-Seq_ERMYB_Mouse1.45139928
55EP300_21415370_ChIP-Seq_HL-1_Mouse1.44694507
56EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44344394
57STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.43976407
58ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.43829835
59GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.43257486
60* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.42812290
61VDR_21846776_ChIP-Seq_THP-1_Human1.42438777
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41056469
63IRF8_22096565_ChIP-ChIP_GC-B_Human1.40143153
64FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.39583514
65* KDM2B_26808549_Chip-Seq_JURKAT_Human1.39470434
66SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37570635
67CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.35343988
68SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.34712601
69NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.31570357
70ZNF263_19887448_ChIP-Seq_K562_Human1.31433293
71TP53_22127205_ChIP-Seq_IMR90_Human1.31050531
72* FOXA2_19822575_ChIP-Seq_HepG2_Human1.30760973
73* CJUN_26792858_Chip-Seq_BT549_Human1.29618636
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.29158490
75SALL4_18804426_ChIP-ChIP_XEN_Mouse1.29026243
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.28878842
77AHR_22903824_ChIP-Seq_MCF-7_Human1.25245890
78* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.25100401
79ESR1_20079471_ChIP-ChIP_T-47D_Human1.23227883
80ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.22506280
81PIAS1_25552417_ChIP-Seq_VCAP_Human1.22387598
82AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.18372201
83ATF3_27146783_Chip-Seq_COLON_Human1.17602237
84TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16779131
85* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.15743167
86SMC1_22415368_ChIP-Seq_MEFs_Mouse1.15501634
87VDR_24763502_ChIP-Seq_THP-1_Human1.14973762
88GATA3_24758297_ChIP-Seq_MCF-7_Human1.14791766
89PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14688368
90VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.14045548
91MYC_22102868_ChIP-Seq_BL_Human1.13835146
92ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.13709282
93* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13586714
94NFIB_24661679_ChIP-Seq_LUNG_Mouse1.13279817
95SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.12938785
96TBX20_22080862_ChIP-Seq_HEART_Mouse1.12517645
97TBX20_22328084_ChIP-Seq_HEART_Mouse1.12517645
98* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.11492603
99TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10505941
100FOXA1_25552417_ChIP-Seq_VCAP_Human1.10109628
101GATA4_25053715_ChIP-Seq_YYC3_Human1.08778463
102BRD4_27068464_Chip-Seq_AML-cells_Mouse1.08633076
103* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08099130
104* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.07939428
105ZFP281_27345836_Chip-Seq_ESCs_Mouse1.07283398
106RUNX1_22412390_ChIP-Seq_EML_Mouse1.06700941
107TP63_23658742_ChIP-Seq_EP156T_Human1.06488608
108PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.06411363
109SPI1_23127762_ChIP-Seq_K562_Human1.05585737
110TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04851824
111TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.04289605
112* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02671360
113ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02427525
114* RUNX1_27514584_Chip-Seq_MCF-7_Human1.02071399
115MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.01842205
116GATA1_19941827_ChIP-Seq_MEL_Mouse1.01590859
117WT1_19549856_ChIP-ChIP_CCG9911_Human1.00934800
118FOXO3_23340844_ChIP-Seq_DLD1_Human1.00376002
119* TP53_23651856_ChIP-Seq_MEFs_Mouse1.00024040
120NR3C1_23031785_ChIP-Seq_PC12_Mouse0.99814400
121STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.99659048
122* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.99297166
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.98057219
124TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96765839
125CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94751711
126* GATA1_19941826_ChIP-Seq_K562_Human0.94544509
127BCAT_22108803_ChIP-Seq_LS180_Human0.94293964
128AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.93998620
129RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.93692766
130PPAR_26484153_Chip-Seq_NCI-H1993_Human0.92325108
131ARNT_22903824_ChIP-Seq_MCF-7_Human0.91511336
132CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.88319809
133CDX2_20551321_ChIP-Seq_CACO-2_Human0.87822470
134SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.86131141
135SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.86131141
136TP53_18474530_ChIP-ChIP_U2OS_Human0.85478020
137RXR_22108803_ChIP-Seq_LS180_Human0.85439718
138PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.84731468
139MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.80695100
140* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.80199961
141HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.79194385
142TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.78658931
143ISL1_27105846_Chip-Seq_CPCs_Mouse0.76896828
144FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.76051288
145Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.73831724
146* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.72739710
147* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.72542570
148* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.71615103
149* BRD4_25478319_ChIP-Seq_HGPS_Human0.70699740
150* HNF4A_19822575_ChIP-Seq_HepG2_Human0.70623084
151PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.70232902
152SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.69927064
153UBF1/2_26484160_Chip-Seq_HMECs_Human0.69311730
154GATA6_25053715_ChIP-Seq_YYC3_Human0.69177897
155* SMAD4_21741376_ChIP-Seq_HESCs_Human0.68894210
156EED_16625203_ChIP-ChIP_MESCs_Mouse0.68427220
157P63_26484246_Chip-Seq_KERATINOCYTES_Human0.68289066
158FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.66312214
159CDX2_22108803_ChIP-Seq_LS180_Human0.65828968
160* GF1B_26923725_Chip-Seq_HPCs_Mouse0.65276790

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.11741529
2MP0010368_abnormal_lymphatic_system3.67611218
3MP0005365_abnormal_bile_salt3.66404538
4MP0003195_calcinosis3.42920045
5MP0005085_abnormal_gallbladder_physiolo3.36026330
6MP0009780_abnormal_chondrocyte_physiolo3.15353556
7MP0008875_abnormal_xenobiotic_pharmacok3.06709064
8MP0004043_abnormal_pH_regulation2.90719353
9MP0003252_abnormal_bile_duct2.61524294
10MP0003091_abnormal_cell_migration2.58249890
11MP0005360_urolithiasis2.51625913
12MP0001958_emphysema2.46556314
13MP0000013_abnormal_adipose_tissue2.42965272
14MP0001944_abnormal_pancreas_morphology2.40951927
15MP0002693_abnormal_pancreas_physiology2.37849486
16MP0005623_abnormal_meninges_morphology2.31846542
17MP0001879_abnormal_lymphatic_vessel2.14794419
18MP0004264_abnormal_extraembryonic_tissu2.13733776
19MP0003283_abnormal_digestive_organ2.08841407
20MP0002138_abnormal_hepatobiliary_system2.05704796
21MP0002909_abnormal_adrenal_gland2.05296356
22MP0005220_abnormal_exocrine_pancreas2.04615150
23* MP0002877_abnormal_melanocyte_morpholog2.03588594
24MP0004858_abnormal_nervous_system2.00964383
25MP0010329_abnormal_lipoprotein_level1.98627801
26MP0005379_endocrine/exocrine_gland_phen1.86934250
27MP0001849_ear_inflammation1.84538517
28MP0003303_peritoneal_inflammation1.83407931
29MP0005023_abnormal_wound_healing1.82036033
30MP0003806_abnormal_nucleotide_metabolis1.74258168
31MP0010386_abnormal_urinary_bladder1.70427174
32MP0004272_abnormal_basement_membrane1.67754573
33MP0002254_reproductive_system_inflammat1.66088108
34MP0002078_abnormal_glucose_homeostasis1.64428547
35MP0005409_darkened_coat_color1.63989009
36* MP0000678_abnormal_parathyroid_gland1.63722284
37MP0004510_myositis1.62199265
38MP0010352_gastrointestinal_tract_polyps1.61395326
39MP0006054_spinal_hemorrhage1.60654162
40MP0005083_abnormal_biliary_tract1.58343230
41MP0004782_abnormal_surfactant_physiolog1.58162117
42MP0005076_abnormal_cell_differentiation1.56571751
43MP0003183_abnormal_peptide_metabolism1.56016116
44MP0005646_abnormal_pituitary_gland1.54364964
45MP0008438_abnormal_cutaneous_collagen1.49291347
46MP0009643_abnormal_urine_homeostasis1.44825465
47MP0003436_decreased_susceptibility_to1.44507760
48MP0008004_abnormal_stomach_pH1.42311426
49MP0000465_gastrointestinal_hemorrhage1.41760148
50MP0008260_abnormal_autophagy1.40443034
51MP0002837_dystrophic_cardiac_calcinosis1.40120364
52MP0005408_hypopigmentation1.39880188
53MP0000858_altered_metastatic_potential1.38054665
54MP0003300_gastrointestinal_ulcer1.37195942
55MP0001666_abnormal_nutrient_absorption1.36901713
56MP0008789_abnormal_olfactory_epithelium1.35650385
57MP0003122_maternal_imprinting1.35258305
58MP0000566_synostosis1.33990792
59MP0001915_intracranial_hemorrhage1.33462412
60MP0000003_abnormal_adipose_tissue1.32589275
61MP0001346_abnormal_lacrimal_gland1.31761085
62MP0002928_abnormal_bile_duct1.31713504
63MP0005275_abnormal_skin_tensile1.31506382
64MP0002118_abnormal_lipid_homeostasis1.30634472
65MP0002060_abnormal_skin_morphology1.29603336
66MP0005164_abnormal_response_to1.26866861
67MP0002896_abnormal_bone_mineralization1.26451201
68MP0002098_abnormal_vibrissa_morphology1.26228561
69MP0009697_abnormal_copulation1.24698167
70MP0003724_increased_susceptibility_to1.21458723
71MP0002876_abnormal_thyroid_physiology1.20710685
72MP0001533_abnormal_skeleton_physiology1.20091927
73MP0002295_abnormal_pulmonary_circulatio1.19987406
74MP0002933_joint_inflammation1.19312743
75MP0002998_abnormal_bone_remodeling1.18549164
76MP0000751_myopathy1.17646636
77MP0001542_abnormal_bone_strength1.16847932
78MP0005670_abnormal_white_adipose1.16020602
79MP0009840_abnormal_foam_cell1.14813219
80MP0005451_abnormal_body_composition1.14711090
81MP0003191_abnormal_cellular_cholesterol1.14487816
82MP0003705_abnormal_hypodermis_morpholog1.13600435
83MP0004233_abnormal_muscle_weight1.12236029
84MP0001756_abnormal_urination1.11930065
85* MP0001614_abnormal_blood_vessel1.11828501
86MP0005332_abnormal_amino_acid1.10426556
87MP0000609_abnormal_liver_physiology1.08801322
88MP0000249_abnormal_blood_vessel1.08516455
89MP0005058_abnormal_lysosome_morphology1.08315882
90MP0003453_abnormal_keratinocyte_physiol1.07941395
91MP0004947_skin_inflammation1.07721529
92* MP0005595_abnormal_vascular_smooth1.05461265
93MP0003279_aneurysm1.04207585
94MP0010030_abnormal_orbit_morphology1.03974276
95MP0003448_altered_tumor_morphology1.03751175
96MP0005503_abnormal_tendon_morphology1.03485835
97MP0004019_abnormal_vitamin_homeostasis1.02928367
98MP0001348_abnormal_lacrimal_gland1.02889820
99MP0001270_distended_abdomen1.02791162
100MP0005499_abnormal_olfactory_system1.02074688
101MP0005394_taste/olfaction_phenotype1.02074688
102MP0005257_abnormal_intraocular_pressure1.01390814
103MP0002168_other_aberrant_phenotype1.00630762
104MP0003953_abnormal_hormone_level1.00091608
105* MP0005390_skeleton_phenotype0.99909804
106* MP0002925_abnormal_cardiovascular_devel0.98975393
107MP0000733_abnormal_muscle_development0.98488101
108MP0009053_abnormal_anal_canal0.98479280
109MP0003868_abnormal_feces_composition0.98214362
110MP0005248_abnormal_Harderian_gland0.95901024
111* MP0005508_abnormal_skeleton_morphology0.95054581
112MP0001243_abnormal_dermal_layer0.95050339
113MP0004883_abnormal_blood_vessel0.94801613
114MP0002128_abnormal_blood_circulation0.94782320
115MP0003943_abnormal_hepatobiliary_system0.94068608
116MP0005084_abnormal_gallbladder_morpholo0.92769940
117MP0009384_cardiac_valve_regurgitation0.91850311
118MP0003329_amyloid_beta_deposits0.91267020
119MP0005165_increased_susceptibility_to0.90063044
120MP0003950_abnormal_plasma_membrane0.90057513
121MP0003566_abnormal_cell_adhesion0.89792450
122MP0004084_abnormal_cardiac_muscle0.89503555
123MP0005464_abnormal_platelet_physiology0.89279007
124MP0005167_abnormal_blood-brain_barrier0.88990051
125MP0000538_abnormal_urinary_bladder0.88636888
126MP0002796_impaired_skin_barrier0.88305877
127MP0010234_abnormal_vibrissa_follicle0.87777230
128MP0001764_abnormal_homeostasis0.85194206
129MP0002108_abnormal_muscle_morphology0.83985323
130* MP0000613_abnormal_salivary_gland0.82723022
131MP0003186_abnormal_redox_activity0.81755322
132MP0005319_abnormal_enzyme/_coenzyme0.81053081
133MP0005621_abnormal_cell_physiology0.80737698
134MP0002932_abnormal_joint_morphology0.79489694
135MP0000537_abnormal_urethra_morphology0.78091088
136MP0000230_abnormal_systemic_arterial0.76807230
137MP0000767_abnormal_smooth_muscle0.76063641
138MP0000343_altered_response_to0.74666802
139MP0000534_abnormal_ureter_morphology0.74608305
140MP0005375_adipose_tissue_phenotype0.73806234
141MP0003795_abnormal_bone_structure0.72628250
142MP0001851_eye_inflammation0.71788678
143MP0000639_abnormal_adrenal_gland0.71597517
144MP0010630_abnormal_cardiac_muscle0.71183115
145MP0003828_pulmonary_edema0.70787885
146MP0003075_altered_response_to0.70729976
147MP0000579_abnormal_nail_morphology0.68767783
148MP0002234_abnormal_pharynx_morphology0.68002411
149MP0002332_abnormal_exercise_endurance0.67786317
150MP0000467_abnormal_esophagus_morphology0.67686315
151MP0003172_abnormal_lysosome_physiology0.67610143
152MP0005636_abnormal_mineral_homeostasis0.67577465
153MP0005334_abnormal_fat_pad0.65784817
154MP0010155_abnormal_intestine_physiology0.65690285
155MP0002419_abnormal_innate_immunity0.65635595
156MP0005388_respiratory_system_phenotype0.65227479
157MP0002133_abnormal_respiratory_system0.65227479
158MP0008961_abnormal_basal_metabolism0.64717677
159MP0000750_abnormal_muscle_regeneration0.63862942
160MP0005501_abnormal_skin_physiology0.63652955
161MP0001765_abnormal_ion_homeostasis0.63378647
162MP0000598_abnormal_liver_morphology0.62705447
163MP0009642_abnormal_blood_homeostasis0.61827797
164MP0006072_abnormal_retinal_apoptosis0.61691237
165MP0003941_abnormal_skin_development0.61227501
166MP0005535_abnormal_body_temperature0.60836631
167MP0003045_fibrosis0.60754573
168MP0006138_congestive_heart_failure0.60222556

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)6.58725119
2Hypoglycemic coma (HP:0001325)6.41803872
3Hyperinsulinemic hypoglycemia (HP:0000825)6.39791808
4Protrusio acetabuli (HP:0003179)6.16524238
5Symptomatic seizures (HP:0011145)5.65623387
6Premature rupture of membranes (HP:0001788)5.54392718
7Hyperglycemia (HP:0003074)4.98294784
8Vascular tortuosity (HP:0004948)4.33762976
9Arterial tortuosity (HP:0005116)4.31095074
10Ketoacidosis (HP:0001993)4.15555286
11Abnormality of aromatic amino acid family metabolism (HP:0004338)4.15479724
12Abnormality of the intrinsic pathway (HP:0010989)4.14531967
13Insulin-resistant diabetes mellitus (HP:0000831)4.01929159
14Intrahepatic cholestasis (HP:0001406)3.99141123
15Pancreatic islet-cell hyperplasia (HP:0004510)3.89480731
16Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.79108565
17Aortic dissection (HP:0002647)3.75925915
18Conjugated hyperbilirubinemia (HP:0002908)3.75608633
19Generalized aminoaciduria (HP:0002909)3.66663199
20Abnormality of the pancreatic islet cells (HP:0006476)3.62482423
21Abnormality of endocrine pancreas physiology (HP:0012093)3.62482423
22Prolonged partial thromboplastin time (HP:0003645)3.51745693
23Abnormality of monocarboxylic acid metabolism (HP:0010996)3.44474840
24Aortic aneurysm (HP:0004942)3.43064529
25Cerebral aneurysm (HP:0004944)3.38211224
26Abnormal pancreas size (HP:0012094)3.33511781
27Osteomalacia (HP:0002749)3.31935793
28Decreased circulating renin level (HP:0003351)3.26273189
29Cervical subluxation (HP:0003308)3.25580842
30Abnormality of the common coagulation pathway (HP:0010990)3.23759968
31Ketosis (HP:0001946)3.11265447
32Late onset (HP:0003584)3.10963095
33Spinal rigidity (HP:0003306)3.07045519
34Xanthomatosis (HP:0000991)3.05784508
35Peritonitis (HP:0002586)3.02863816
36Wormian bones (HP:0002645)3.01897648
37Deep venous thrombosis (HP:0002625)2.99536517
38Fragile skin (HP:0001030)2.91833740
39Ankle contracture (HP:0006466)2.90196733
40Dilatation of the ascending aorta (HP:0005111)2.85402600
41Vertebral compression fractures (HP:0002953)2.84122792
42Hyperactive renin-angiotensin system (HP:0000841)2.83472272
43Insulin resistance (HP:0000855)2.83367517
44Mitral valve prolapse (HP:0001634)2.82948312
45Increased connective tissue (HP:0009025)2.78794218
46Bladder diverticulum (HP:0000015)2.74703701
47Shallow orbits (HP:0000586)2.72701149
48Mucopolysacchariduria (HP:0008155)2.70982085
49Urinary glycosaminoglycan excretion (HP:0003541)2.70982085
50Blue sclerae (HP:0000592)2.70311153
51Broad face (HP:0000283)2.70308265
52Hypokalemia (HP:0002900)2.69318981
53Genu recurvatum (HP:0002816)2.68460238
54Fat malabsorption (HP:0002630)2.64932484
55Joint hemorrhage (HP:0005261)2.62552126
56Large for gestational age (HP:0001520)2.61251086
57Soft skin (HP:0000977)2.57730675
58Aneurysm (HP:0002617)2.56881928
59Increased variability in muscle fiber diameter (HP:0003557)2.55882084
60Spontaneous hematomas (HP:0007420)2.54918513
61Neonatal short-limb short stature (HP:0008921)2.52679635
62Abnormality of dentin (HP:0010299)2.52440374
63Short nail (HP:0001799)2.51980451
64Abnormality of mucopolysaccharide metabolism (HP:0011020)2.46363036
65Abnormality of polysaccharide metabolism (HP:0011012)2.46363036
66Abnormality of glycosaminoglycan metabolism (HP:0004371)2.46363036
67Skin nodule (HP:0200036)2.43465098
68Abnormality of calcium-phosphate metabolism (HP:0100530)2.39513308
69Ulnar bowing (HP:0003031)2.37722977
70Wrist flexion contracture (HP:0001239)2.37213260
71Enlarged kidneys (HP:0000105)2.35429102
72Joint laxity (HP:0001388)2.33575749
73Mitral regurgitation (HP:0001653)2.33065429
74Broad metatarsal (HP:0001783)2.33013237
75Complement deficiency (HP:0004431)2.30028967
76Epidermoid cyst (HP:0200040)2.27792145
77Osteolytic defects of the phalanges of the hand (HP:0009771)2.25709974
78Osteolytic defects of the hand bones (HP:0009699)2.25709974
79Right ventricular cardiomyopathy (HP:0011663)2.24844519
80Hepatocellular carcinoma (HP:0001402)2.24283498
81Absent eyebrow (HP:0002223)2.24034372
82Hyperkalemia (HP:0002153)2.23921268
83Abnormality of skeletal muscle fiber size (HP:0012084)2.23819239
84Abnormality of purine metabolism (HP:0004352)2.22395827
85Mitral stenosis (HP:0001718)2.22311660
86Gout (HP:0001997)2.21233770
87Hepatoblastoma (HP:0002884)2.20229680
88Overgrowth (HP:0001548)2.19841619
89Disproportionate tall stature (HP:0001519)2.19257527
90Spondylolisthesis (HP:0003302)2.16025118
91Abnormality of potassium homeostasis (HP:0011042)2.15208435
92Mildly elevated creatine phosphokinase (HP:0008180)2.15002038
93Distal lower limb amyotrophy (HP:0008944)2.14043404
94Hypobetalipoproteinemia (HP:0003563)2.11889807
95Obstructive sleep apnea (HP:0002870)2.11428679
96Biconcave vertebral bodies (HP:0004586)2.11272442
97Coxa vara (HP:0002812)2.10894702
98Polycythemia (HP:0001901)2.10405425
99Abnormality of renin-angiotensin system (HP:0000847)2.09610556
100Prominent metopic ridge (HP:0005487)2.09059369
101Ankyloglossia (HP:0010296)2.07423479
102Distal upper limb amyotrophy (HP:0007149)2.07103687
103Upper limb amyotrophy (HP:0009129)2.07103687
104Aortic regurgitation (HP:0001659)2.06648220
105Abnormality of oral frenula (HP:0000190)2.06237749
106Abnormality of fatty-acid metabolism (HP:0004359)2.05998542
107Follicular hyperkeratosis (HP:0007502)2.05677811
108Hypoalphalipoproteinemia (HP:0003233)2.05393954
109Abnormality of the nasal mucosa (HP:0000433)2.05111233
110Esophageal varix (HP:0002040)2.04201075
111Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.03938394
112Difficulty climbing stairs (HP:0003551)2.03731054
113Abnormality of the acetabulum (HP:0003170)2.03528078
114Hyperextensible skin (HP:0000974)2.03319483
115Menorrhagia (HP:0000132)2.03152839
116Hyperacusis (HP:0010780)2.02759190
117Absent eyelashes (HP:0000561)2.02720749
118Distal lower limb muscle weakness (HP:0009053)2.01609969
119Ectopia lentis (HP:0001083)2.00672054
120Nonimmune hydrops fetalis (HP:0001790)1.99251242
121Dysostosis multiplex (HP:0000943)1.96515904
122Hypolipoproteinemia (HP:0010981)1.96080339
123Growth hormone excess (HP:0000845)1.95386958
124Hyperbilirubinemia (HP:0002904)1.95214025
125Flat acetabular roof (HP:0003180)1.94795638
126Absent frontal sinuses (HP:0002688)1.94539295
127Abnormality of the metopic suture (HP:0005556)1.94283662
128Renal cortical cysts (HP:0000803)1.94271432
129Hemorrhage of the eye (HP:0011885)1.93066309
130Hypokalemic alkalosis (HP:0001949)1.92190578
131Abnormality of chloride homeostasis (HP:0011422)1.91316082
132Slender build (HP:0001533)1.91200285
133Lip pit (HP:0100267)1.90779454
134Unilateral renal agenesis (HP:0000122)1.88477159
135Aortic valve stenosis (HP:0001650)1.87750751
136Vertebral arch anomaly (HP:0008438)1.86280611
137Abnormal vertebral ossification (HP:0100569)1.85334778
138Type 1 muscle fiber predominance (HP:0003803)1.85186880
139Interstitial pulmonary disease (HP:0006530)1.83356064
140Alopecia of scalp (HP:0002293)1.81627325
141Alveolar cell carcinoma (HP:0006519)1.81257070
142Hematochezia (HP:0002573)1.80513899
143Hyperglycinuria (HP:0003108)1.79919310
144Hyperlipoproteinemia (HP:0010980)1.79885470
145Achilles tendon contracture (HP:0001771)1.79217323
146Neoplasm of the tracheobronchial system (HP:0100552)1.79128088
147Alkalosis (HP:0001948)1.77903727
148Wide anterior fontanel (HP:0000260)1.77551193
149Bowed forearm bones (HP:0003956)1.77420999
150Bowing of the arm (HP:0006488)1.77420999
151Aplasia/Hypoplasia of the fovea (HP:0008060)1.77412476
152Hypoplasia of the fovea (HP:0007750)1.77412476
153Abnormality of complement system (HP:0005339)1.76180813
154Myocardial infarction (HP:0001658)1.75889803
155Hypothermia (HP:0002045)1.74614984
156Joint stiffness (HP:0001387)1.73958837
157Glycosuria (HP:0003076)1.73688963
158Abnormality of urine glucose concentration (HP:0011016)1.73688963
159Abnormal platelet volume (HP:0011876)1.72656209
160Abdominal distention (HP:0003270)1.71237290
161Elbow flexion contracture (HP:0002987)1.71218354
162Increased mean platelet volume (HP:0011877)1.70718762
163Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.70378743
164Amyloidosis (HP:0011034)1.70128777
165Steatorrhea (HP:0002570)1.70014023
166Striae distensae (HP:0001065)1.69251569
167Papillary thyroid carcinoma (HP:0002895)1.68669881
168Hypoplastic labia majora (HP:0000059)1.68137836
169Retinal atrophy (HP:0001105)1.68025578
170Venous abnormality (HP:0002624)1.67802476
171Thin bony cortex (HP:0002753)1.67557754
172Atrophic scars (HP:0001075)1.67245804
173Hyperaldosteronism (HP:0000859)1.66327795
174Elevated alkaline phosphatase (HP:0003155)1.66285243
175Abnormal delivery (HP:0001787)1.65966543
176Exocrine pancreatic insufficiency (HP:0001738)1.65501064
177Abnormality of the distal phalanx of the thumb (HP:0009617)1.65282051
178Hypophosphatemia (HP:0002148)1.64234444
179Spinal cord compression (HP:0002176)1.64007032
180Glucose intolerance (HP:0000833)1.63897881
181Abnormal glucose tolerance (HP:0001952)1.63625994
182Tibial bowing (HP:0002982)1.63464864
183Limb hypertonia (HP:0002509)1.63063881
184Turricephaly (HP:0000262)1.61810891
185Abnormality of the Achilles tendon (HP:0005109)1.61708320
186Abnormality of the distal phalanges of the toes (HP:0010182)1.61343317
187Abnormal ossification of hand bones (HP:0005921)1.60887796
188Lymphangioma (HP:0100764)1.60395675
189Pancreatitis (HP:0001733)1.59006411
190Osteoarthritis (HP:0002758)1.58907894
191Abnormality of skull ossification (HP:0002703)1.58865788
192Cerebral inclusion bodies (HP:0100314)1.57899415

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR5.66379488
2MAPK154.11932316
3TIE13.39199471
4PASK3.16532596
5ERN12.77087168
6FRK2.72676290
7PRKD32.56356308
8MAP3K22.53386814
9AKT32.45563999
10TTN2.44336062
11PRPF4B2.21251664
12HIPK22.15251615
13TAOK32.07326302
14MAP3K32.02356767
15SMG11.92033268
16BCKDK1.84852605
17SIK11.72606502
18EPHA31.71307185
19BMPR1B1.67754319
20LATS11.64889365
21ICK1.63952786
22PKN21.57267151
23FLT31.54411003
24IRAK31.51928379
25CDK121.49895989
26RIPK11.48247896
27FGFR41.47391150
28PAK41.43807410
29ERBB31.43703682
30KDR1.41002863
31SGK21.39066260
32EPHA21.35122017
33FER1.29204562
34ZAK1.28591379
35PTK61.25842939
36MOS1.24848764
37MAP3K131.23729311
38LATS21.23674801
39STK38L1.23185901
40MAP2K21.21591843
41CDC42BPA1.20040792
42ZAP701.19709870
43BMPR21.18779698
44PTK2B1.18137774
45MAP3K11.17014689
46TGFBR11.16545957
47PDGFRA1.16356592
48CSK1.15606794
49EPHB21.13433600
50PTK21.11632101
51WNK41.10994610
52IRAK11.07824318
53STK381.06349815
54NLK1.05100640
55MAP3K141.04468043
56SGK31.02668915
57MAP3K60.98429091
58EEF2K0.98349005
59FGFR30.98164688
60DDR20.95508898
61TGFBR20.94840639
62KSR20.93759956
63LMTK20.93081966
64PRKCH0.90663008
65PAK20.90529866
66TAOK20.89854375
67FES0.88091867
68PIK3CG0.87989242
69SGK4940.87655131
70SGK2230.87655131
71ROCK20.87370078
72NEK60.83565114
73CHUK0.83274674
74MARK20.81929303
75TBK10.81368496
76MET0.79266352
77PDPK10.78851817
78RPS6KA20.76191250
79MAP3K70.75595552
80NUAK10.75550017
81EPHB10.73236630
82MAP4K10.70710978
83PRKCE0.70201241
84JAK10.68119290
85ERBB40.68070373
86BMX0.66790315
87TRIB30.65934576
88ARAF0.64480409
89MAPK70.63948582
90MAP2K10.63598697
91IRAK40.62479317
92PAK30.60708649
93MST1R0.59176751
94LRRK20.58379380
95PRKD20.56874304
96SIK30.56065577
97TAOK10.55580447
98PIK3CA0.54747074
99WNK30.54689563
100MAP3K110.52500481
101HCK0.52366725
102ROCK10.51493551
103GSK3A0.50784844
104TEC0.50076417
105PRKAA10.49775550
106GRK60.49719946
107GRK10.49654610
108STK100.48663910
109NEK90.48100840
110JAK30.48046935
111FGFR20.47709213
112JAK20.47177322
113MELK0.45533767
114PRKD10.44868758
115NTRK10.44291548
116KSR10.43870032
117MAP3K80.43649351
118MYLK0.43243943
119PRKAA20.43033100
120DYRK1B0.41812026
121ILK0.41744422
122IGF1R0.41704508
123LIMK10.41680153
124PDGFRB0.41601515
125RPS6KB10.41335266
126YES10.41297998
127CAMK1G0.40899557
128CAMK1D0.39735422
129MAP2K30.39665812
130MTOR0.39330100
131TRPM70.38535851
132PRKG20.38322784
133PAK60.38149178
134PDK10.37746078
135SRC0.37289846
136TYK20.36991265
137DMPK0.36871057
138FGR0.36456136
139MAP3K100.35244768
140WNK10.34821044
141TESK10.32588913
142ITK0.32553266
143RET0.32318281
144PDK20.31964446
145MAPK30.30950409
146STK30.30900452
147ERBB20.30704722
148RPS6KC10.30134559
149RPS6KL10.30134559
150IKBKE0.29961100

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.28101906
2Sulfur metabolism_Homo sapiens_hsa009203.77235068
3Protein export_Homo sapiens_hsa030603.23711002
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.89060205
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.57733163
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.44697728
7Pentose and glucuronate interconversions_Homo sapiens_hsa000402.44367654
8Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.42710001
9Tryptophan metabolism_Homo sapiens_hsa003802.23386915
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.08080930
11Steroid hormone biosynthesis_Homo sapiens_hsa001401.93319921
12Chemical carcinogenesis_Homo sapiens_hsa052041.92090567
13AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.91102000
14Starch and sucrose metabolism_Homo sapiens_hsa005001.85023356
15Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.81677145
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.74510193
17Chronic myeloid leukemia_Homo sapiens_hsa052201.73122940
18Complement and coagulation cascades_Homo sapiens_hsa046101.71567241
19Leukocyte transendothelial migration_Homo sapiens_hsa046701.70251990
20Selenocompound metabolism_Homo sapiens_hsa004501.69570036
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.69395640
22Fatty acid degradation_Homo sapiens_hsa000711.69038069
23Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.68047487
24ABC transporters_Homo sapiens_hsa020101.62878761
25Butanoate metabolism_Homo sapiens_hsa006501.60298138
26Proteoglycans in cancer_Homo sapiens_hsa052051.58632364
27Phenylalanine metabolism_Homo sapiens_hsa003601.58098300
28Insulin secretion_Homo sapiens_hsa049111.54843409
29Small cell lung cancer_Homo sapiens_hsa052221.53996094
30Pancreatic cancer_Homo sapiens_hsa052121.51611927
31Notch signaling pathway_Homo sapiens_hsa043301.50687770
32Drug metabolism - other enzymes_Homo sapiens_hsa009831.45791927
33Renal cell carcinoma_Homo sapiens_hsa052111.44896132
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.38758997
35Peroxisome_Homo sapiens_hsa041461.34702019
36Histidine metabolism_Homo sapiens_hsa003401.32867135
37VEGF signaling pathway_Homo sapiens_hsa043701.32731730
38Acute myeloid leukemia_Homo sapiens_hsa052211.31380363
39Galactose metabolism_Homo sapiens_hsa000521.28081731
40Type II diabetes mellitus_Homo sapiens_hsa049301.26140665
41Retinol metabolism_Homo sapiens_hsa008301.25663180
42Tyrosine metabolism_Homo sapiens_hsa003501.25421253
43Regulation of actin cytoskeleton_Homo sapiens_hsa048101.22704786
44Central carbon metabolism in cancer_Homo sapiens_hsa052301.20288056
45Shigellosis_Homo sapiens_hsa051311.18593572
46Malaria_Homo sapiens_hsa051441.18175064
47Osteoclast differentiation_Homo sapiens_hsa043801.16607115
48Endometrial cancer_Homo sapiens_hsa052131.14695410
49Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.11758048
50Non-small cell lung cancer_Homo sapiens_hsa052231.11586253
51Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.09853568
52Platelet activation_Homo sapiens_hsa046111.09782320
53Neurotrophin signaling pathway_Homo sapiens_hsa047221.09659505
54TNF signaling pathway_Homo sapiens_hsa046681.08879493
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.08768880
56Fatty acid metabolism_Homo sapiens_hsa012121.06664906
57Toxoplasmosis_Homo sapiens_hsa051451.06265545
58Insulin resistance_Homo sapiens_hsa049311.06085661
59Circadian rhythm_Homo sapiens_hsa047101.06029802
60Phospholipase D signaling pathway_Homo sapiens_hsa040721.05918753
61Nitrogen metabolism_Homo sapiens_hsa009101.04987122
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.04487650
63PPAR signaling pathway_Homo sapiens_hsa033201.04161685
64MicroRNAs in cancer_Homo sapiens_hsa052061.02964822
65Hepatitis C_Homo sapiens_hsa051601.01591155
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01444026
67Thyroid hormone signaling pathway_Homo sapiens_hsa049191.01438711
68Glycosaminoglycan degradation_Homo sapiens_hsa005311.00934810
69Bile secretion_Homo sapiens_hsa049761.00220696
70Rap1 signaling pathway_Homo sapiens_hsa040150.99735388
71PI3K-Akt signaling pathway_Homo sapiens_hsa041510.99273950
72Arginine biosynthesis_Homo sapiens_hsa002200.96670525
73Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.94065834
74Endocytosis_Homo sapiens_hsa041440.93878103
75Glioma_Homo sapiens_hsa052140.93314109
76Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.92984619
77beta-Alanine metabolism_Homo sapiens_hsa004100.92229929
78Pathways in cancer_Homo sapiens_hsa052000.91477482
79HIF-1 signaling pathway_Homo sapiens_hsa040660.91122521
80Hepatitis B_Homo sapiens_hsa051610.90481036
81Axon guidance_Homo sapiens_hsa043600.90114313
82Salmonella infection_Homo sapiens_hsa051320.88831602
83Prion diseases_Homo sapiens_hsa050200.87751725
84GnRH signaling pathway_Homo sapiens_hsa049120.87517717
85B cell receptor signaling pathway_Homo sapiens_hsa046620.87067637
86ErbB signaling pathway_Homo sapiens_hsa040120.86788470
87Estrogen signaling pathway_Homo sapiens_hsa049150.84867475
88Caffeine metabolism_Homo sapiens_hsa002320.84629972
89Vibrio cholerae infection_Homo sapiens_hsa051100.83116590
90mTOR signaling pathway_Homo sapiens_hsa041500.82983267
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82470528
92Apoptosis_Homo sapiens_hsa042100.81144287
93Pertussis_Homo sapiens_hsa051330.80615790
94Toll-like receptor signaling pathway_Homo sapiens_hsa046200.80336350
95Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79793590
96Fatty acid elongation_Homo sapiens_hsa000620.77903986
97Fat digestion and absorption_Homo sapiens_hsa049750.77780566
98Lysine degradation_Homo sapiens_hsa003100.77594411
99Folate biosynthesis_Homo sapiens_hsa007900.76911919
100Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76477623
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.76368147
102Propanoate metabolism_Homo sapiens_hsa006400.75400648
103Choline metabolism in cancer_Homo sapiens_hsa052310.75252071
104Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.74890930
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.74616320
106Tight junction_Homo sapiens_hsa045300.74396028
107Leishmaniasis_Homo sapiens_hsa051400.73495050
108Type I diabetes mellitus_Homo sapiens_hsa049400.73489147
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.73068352
110Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72489292
111Colorectal cancer_Homo sapiens_hsa052100.72365368
112Dorso-ventral axis formation_Homo sapiens_hsa043200.71751735
113Measles_Homo sapiens_hsa051620.69888456
114Chemokine signaling pathway_Homo sapiens_hsa040620.68582469
115N-Glycan biosynthesis_Homo sapiens_hsa005100.68482901
116Phagosome_Homo sapiens_hsa041450.67645391
117Influenza A_Homo sapiens_hsa051640.66372738
118Gap junction_Homo sapiens_hsa045400.65415724
119Thyroid hormone synthesis_Homo sapiens_hsa049180.62640235
120FoxO signaling pathway_Homo sapiens_hsa040680.62279219
121Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.62209121
122Ras signaling pathway_Homo sapiens_hsa040140.61434770
123Glucagon signaling pathway_Homo sapiens_hsa049220.60519114
124NF-kappa B signaling pathway_Homo sapiens_hsa040640.60373747
125Staphylococcus aureus infection_Homo sapiens_hsa051500.60000638
126Inositol phosphate metabolism_Homo sapiens_hsa005620.59687107
127Jak-STAT signaling pathway_Homo sapiens_hsa046300.59493090
128Melanoma_Homo sapiens_hsa052180.56173712
129African trypanosomiasis_Homo sapiens_hsa051430.55841901
130Phosphatidylinositol signaling system_Homo sapiens_hsa040700.54608531
131Adherens junction_Homo sapiens_hsa045200.54601701
132Pentose phosphate pathway_Homo sapiens_hsa000300.54200401
133Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53913830
134Prolactin signaling pathway_Homo sapiens_hsa049170.53840246
135Tuberculosis_Homo sapiens_hsa051520.52719279
136Cocaine addiction_Homo sapiens_hsa050300.52605618
137Lysosome_Homo sapiens_hsa041420.52074622
138T cell receptor signaling pathway_Homo sapiens_hsa046600.51830207
139ECM-receptor interaction_Homo sapiens_hsa045120.50937016
140Vitamin digestion and absorption_Homo sapiens_hsa049770.49347760
141Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.49262583
142Glutathione metabolism_Homo sapiens_hsa004800.46337102
143Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.44062996
144Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43939120
145Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40437610
146SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39903793
147Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38905454
148Arginine and proline metabolism_Homo sapiens_hsa003300.37938288
149Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37927053
150Adipocytokine signaling pathway_Homo sapiens_hsa049200.37885532
151Other glycan degradation_Homo sapiens_hsa005110.37451899
152Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.36911398
153Ovarian steroidogenesis_Homo sapiens_hsa049130.36733355
154Protein digestion and absorption_Homo sapiens_hsa049740.35617153
155Prostate cancer_Homo sapiens_hsa052150.35160577
156Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.33464434
157Bladder cancer_Homo sapiens_hsa052190.30334104
158Thyroid cancer_Homo sapiens_hsa052160.29986915
159Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29773454
160Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.29556547
161Sulfur relay system_Homo sapiens_hsa041220.29313678
162Steroid biosynthesis_Homo sapiens_hsa001000.26897790
163Focal adhesion_Homo sapiens_hsa045100.26819763
164Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.26186715
165Insulin signaling pathway_Homo sapiens_hsa049100.25678601
166alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.24508845
167Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24296469
168Pancreatic secretion_Homo sapiens_hsa049720.22784901
169Taste transduction_Homo sapiens_hsa047420.22272028
170Linoleic acid metabolism_Homo sapiens_hsa005910.22132658
171Amoebiasis_Homo sapiens_hsa051460.20931556
172Longevity regulating pathway - mammal_Homo sapiens_hsa042110.19919161
173Dilated cardiomyopathy_Homo sapiens_hsa054140.19132695
174Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.18335153
175Pyruvate metabolism_Homo sapiens_hsa006200.15516372

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