BACE2

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





Description: This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)7.79192833
2endocrine pancreas development (GO:0031018)7.35485168
3melanin biosynthetic process (GO:0042438)7.05001799
4COPII vesicle coating (GO:0048208)6.53641357
5maintenance of protein localization in endoplasmic reticulum (GO:0035437)6.43652564
6retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)6.42369800
7regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022356.40080723
8melanin metabolic process (GO:0006582)6.23025420
9regulation of type B pancreatic cell apoptotic process (GO:2000674)6.07204385
10glandular epithelial cell differentiation (GO:0002067)6.06462554
11protein retention in ER lumen (GO:0006621)5.63479687
12* peptide hormone processing (GO:0016486)5.62172735
13secondary metabolite biosynthetic process (GO:0044550)5.59797730
14type B pancreatic cell development (GO:0003323)5.52797157
15exocrine pancreas development (GO:0031017)5.50528645
16activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.48479238
17signal peptide processing (GO:0006465)5.39480584
18hemidesmosome assembly (GO:0031581)5.25425615
19positive regulation of nuclease activity (GO:0032075)5.21505785
20desmosome organization (GO:0002934)5.16067814
21glandular epithelial cell development (GO:0002068)5.07235496
22sequestering of metal ion (GO:0051238)5.03620920
23insulin secretion (GO:0030073)4.86575510
24vesicle coating (GO:0006901)4.84908834
25ER overload response (GO:0006983)4.84009652
26regulation of nuclease activity (GO:0032069)4.71879437
27basement membrane organization (GO:0071711)4.63981940
28endoplasmic reticulum unfolded protein response (GO:0030968)4.62001048
29positive regulation of insulin secretion (GO:0032024)4.58261331
30cellular response to unfolded protein (GO:0034620)4.51510477
31renal filtration (GO:0097205)4.46872416
32cell adhesion mediated by integrin (GO:0033627)4.41235300
33ER-nucleus signaling pathway (GO:0006984)4.40467545
34ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)4.36485437
35cellular response to topologically incorrect protein (GO:0035967)4.34078293
36regulation of insulin secretion (GO:0050796)4.31236735
37nitric oxide mediated signal transduction (GO:0007263)4.10806467
38columnar/cuboidal epithelial cell development (GO:0002066)4.06265644
39glomerular filtration (GO:0003094)3.97586452
40regulation of peptide hormone secretion (GO:0090276)3.93331912
41negative regulation of insulin secretion (GO:0046676)3.89938933
42regulation of peptide secretion (GO:0002791)3.86152197
43cellular zinc ion homeostasis (GO:0006882)3.84802447
44midgut development (GO:0007494)3.81543125
45endothelial cell morphogenesis (GO:0001886)3.81400931
46positive regulation of odontogenesis (GO:0042482)3.78175142
47response to endoplasmic reticulum stress (GO:0034976)3.76675814
48intra-Golgi vesicle-mediated transport (GO:0006891)3.76027111
49peptidyl-proline hydroxylation (GO:0019511)3.75488026
50astrocyte differentiation (GO:0048708)3.72083566
51positive regulation of peptide hormone secretion (GO:0090277)3.70798637
52bundle of His cell to Purkinje myocyte communication (GO:0086069)3.69942536
53toxin metabolic process (GO:0009404)3.69819252
54protein N-linked glycosylation via asparagine (GO:0018279)3.69118119
55peptidyl-asparagine modification (GO:0018196)3.67366001
563-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.65593576
57purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.65593576
58detection of calcium ion (GO:0005513)3.62391626
59ER to Golgi vesicle-mediated transport (GO:0006888)3.61863981
60peptide hormone secretion (GO:0030072)3.61823595
61regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.60256474
62cellular response to vitamin D (GO:0071305)3.59424901
63positive regulation of peptide secretion (GO:0002793)3.58808961
64peptide secretion (GO:0002790)3.57058619
65negative regulation of norepinephrine secretion (GO:0010700)3.56591594
664-hydroxyproline metabolic process (GO:0019471)3.51521851
67response to unfolded protein (GO:0006986)3.51330712
68protein hydroxylation (GO:0018126)3.50605375
69protein N-linked glycosylation (GO:0006487)3.40977254
70cell-substrate junction assembly (GO:0007044)3.39729685
71negative regulation of peptide hormone secretion (GO:0090278)3.39621893
72response to topologically incorrect protein (GO:0035966)3.39620218
73negative regulation of chondrocyte differentiation (GO:0032331)3.39291118
74regulation of hormone secretion (GO:0046883)3.38053390
75epithelial cell fate commitment (GO:0072148)3.35613766
76regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.34859780
77retina vasculature morphogenesis in camera-type eye (GO:0061299)3.33387171
78regulation of apoptotic process involved in morphogenesis (GO:1902337)3.31410780
79negative regulation of catecholamine secretion (GO:0033604)3.29644066
80macroautophagy (GO:0016236)3.28037893
81negative regulation of peptide secretion (GO:0002792)3.26555565
82protein localization to Golgi apparatus (GO:0034067)3.25250284
83skin morphogenesis (GO:0043589)3.24920322
84vascular endothelial growth factor signaling pathway (GO:0038084)3.19968546
85vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.19670312
86Golgi organization (GO:0007030)3.18858149
87regulation of peptide transport (GO:0090087)3.17828896
88response to hexose (GO:0009746)3.17387668
89cerebellar Purkinje cell layer development (GO:0021680)3.16656242
90wound healing, spreading of epidermal cells (GO:0035313)3.16544573
91epithelial cell-cell adhesion (GO:0090136)3.16250411
92cellular response to glucagon stimulus (GO:0071377)3.15247418
93protein localization to endosome (GO:0036010)3.15005428
94negative regulation of complement activation (GO:0045916)3.14087100
95cellular response to hepatocyte growth factor stimulus (GO:0035729)3.12631045
96response to hepatocyte growth factor (GO:0035728)3.12631045
97regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.11939596
98response to glucose (GO:0009749)3.11602024
99semaphorin-plexin signaling pathway (GO:0071526)3.10057746
100tyrosine metabolic process (GO:0006570)3.09845252
101positive regulation of glycolytic process (GO:0045821)3.09092285
102endodermal cell differentiation (GO:0035987)3.08716483
103L-alpha-amino acid transmembrane transport (GO:1902475)3.08299372
104regulation of integrin-mediated signaling pathway (GO:2001044)3.07770782
105regulation of early endosome to late endosome transport (GO:2000641)3.07250399
106negative regulation of bone resorption (GO:0045779)3.06588480
107response to monosaccharide (GO:0034284)3.02906210
108glomerular basement membrane development (GO:0032836)3.01281174
109positive regulation of osteoblast proliferation (GO:0033690)3.00811314
110positive regulation of receptor recycling (GO:0001921)3.00662951
111endothelial cell chemotaxis (GO:0035767)2.98948178
112intestinal epithelial cell development (GO:0060576)2.98910853
113protein autoprocessing (GO:0016540)2.98113007
114GDP-mannose metabolic process (GO:0019673)2.97747433
115positive regulation of hormone secretion (GO:0046887)2.94147117
116Golgi vesicle transport (GO:0048193)2.93143861
117regulation of glucokinase activity (GO:0033131)2.91551674
118regulation of hexokinase activity (GO:1903299)2.91551674
119regulation of energy homeostasis (GO:2000505)2.91191119
120surfactant homeostasis (GO:0043129)2.90908434
121regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.87588871
122UDP-N-acetylglucosamine metabolic process (GO:0006047)2.87475543
123inner ear receptor cell development (GO:0060119)2.87216418
124intestinal absorption (GO:0050892)2.85672634
125peptide transport (GO:0015833)2.84925434
126carbohydrate homeostasis (GO:0033500)2.83800247
127glucose homeostasis (GO:0042593)2.83800247
128protein targeting to Golgi (GO:0000042)2.83290860
129hormone secretion (GO:0046879)2.83125679
130gap junction assembly (GO:0016264)2.81384962
131blood vessel maturation (GO:0001955)2.80359889
132zinc ion homeostasis (GO:0055069)2.77759277
133lymphangiogenesis (GO:0001946)2.77629248
134columnar/cuboidal epithelial cell differentiation (GO:0002065)2.77346225
135negative regulation of phosphoprotein phosphatase activity (GO:0032515)2.77198635
136nucleotide transmembrane transport (GO:1901679)2.76668786
137urea cycle (GO:0000050)2.76408552
138endothelium development (GO:0003158)2.73927004
139barbed-end actin filament capping (GO:0051016)2.73376448
140response to dietary excess (GO:0002021)2.72570557
141hyaluronan catabolic process (GO:0030214)2.72278934
142atrioventricular valve morphogenesis (GO:0003181)2.71194540
143magnesium ion transport (GO:0015693)2.70666406
144zinc ion transmembrane transport (GO:0071577)2.70503923
145negative regulation of protein activation cascade (GO:2000258)2.69137223
146regulation of Golgi to plasma membrane protein transport (GO:0042996)2.68142134
147glomerular visceral epithelial cell development (GO:0072015)2.65848172
148glomerular epithelial cell development (GO:0072310)2.65457150
149dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.63488478
150substrate-dependent cell migration (GO:0006929)2.61558110
151extracellular matrix disassembly (GO:0022617)2.61292292
152cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.59041487
153cytoskeletal anchoring at plasma membrane (GO:0007016)2.57988190
154positive regulation of pseudopodium assembly (GO:0031274)2.57221496
155regulation of transforming growth factor beta1 production (GO:0032908)2.57197541
156diaphragm development (GO:0060539)2.55956956
157negative regulation of fatty acid transport (GO:2000192)2.55870442
158regulation of water loss via skin (GO:0033561)2.55810049
159negative regulation of adherens junction organization (GO:1903392)2.53844564
160negative regulation of focal adhesion assembly (GO:0051895)2.53844564
161negative regulation of cell junction assembly (GO:1901889)2.53844564
162amyloid precursor protein catabolic process (GO:0042987)2.52794852
163regulation of anoikis (GO:2000209)2.51992626
164pigment cell differentiation (GO:0050931)2.49703736
165angiogenesis involved in wound healing (GO:0060055)2.49575251
166iron ion import (GO:0097286)2.49465254
167actin filament depolymerization (GO:0030042)2.45895476
168lymph vessel development (GO:0001945)2.45894943
169diterpenoid biosynthetic process (GO:0016102)2.44835132
170wound healing, spreading of cells (GO:0044319)2.44320005
171urea metabolic process (GO:0019627)2.42539094
172adherens junction assembly (GO:0034333)2.39649622
173muscle cell migration (GO:0014812)2.39497270
174positive regulation of blood vessel endothelial cell migration (GO:0043536)2.38987275
175chondrocyte proliferation (GO:0035988)2.38073914
176negative regulation of keratinocyte proliferation (GO:0010839)2.36620912
177regulation of cardioblast differentiation (GO:0051890)2.35851627
178branching involved in salivary gland morphogenesis (GO:0060445)2.34690443
179regulation of glucocorticoid metabolic process (GO:0031943)2.34461331
180negative regulation of humoral immune response (GO:0002921)2.33784952
181nucleotide-sugar biosynthetic process (GO:0009226)2.33661923
182negative regulation of anoikis (GO:2000811)2.32861529
183melanocyte differentiation (GO:0030318)2.32710689
184negative regulation of cartilage development (GO:0061037)2.32344324
185regulation of endothelial cell chemotaxis (GO:2001026)2.31586807
186positive regulation of astrocyte differentiation (GO:0048711)2.31070632
187keratan sulfate catabolic process (GO:0042340)2.30968747
188regulation of pseudopodium assembly (GO:0031272)2.28992342
189hypotonic response (GO:0006971)2.28614341
190endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.27816962
191Golgi transport vesicle coating (GO:0048200)10.7130590
192COPI coating of Golgi vesicle (GO:0048205)10.7130590

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse8.66311249
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.52539917
3DMRT1_21621532_ChIP-ChIP_FETAL_Ovary3.91843095
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.62118430
5ZNF263_19887448_ChIP-Seq_K562_Human3.55174484
6GATA1_22025678_ChIP-Seq_K562_Human3.54863833
7PDX1_19855005_ChIP-ChIP_MIN6_Mouse3.43204639
8SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.14761546
9PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.60427895
10RACK7_27058665_Chip-Seq_MCF-7_Human2.38638614
11KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.33926121
12* SOX2_27498859_Chip-Seq_STOMACH_Mouse2.32009668
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.28601916
14* HIF1A_21447827_ChIP-Seq_MCF-7_Human2.25232629
15ELK3_25401928_ChIP-Seq_HUVEC_Human2.20339833
16SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.17332506
17SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.17332506
18TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.13401242
19RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.08139812
20* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.99971516
21FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.94934754
22PPAR_26484153_Chip-Seq_NCI-H1993_Human1.91736693
23LXR_22292898_ChIP-Seq_THP-1_Human1.90303774
24NR3C1_23031785_ChIP-Seq_PC12_Mouse1.82995697
25* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.82970411
26PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.76118317
27AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.71822366
28ATF3_27146783_Chip-Seq_COLON_Human1.70029525
29SOX9_24532713_ChIP-Seq_HFSC_Mouse1.68785327
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.67444886
31CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.66260732
32LXR_22158963_ChIP-Seq_LIVER_Mouse1.66229251
33ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.62989634
34* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.62691000
35CDX2_20551321_ChIP-Seq_CACO-2_Human1.58295424
36RXR_22158963_ChIP-Seq_LIVER_Mouse1.57125857
37* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.56482299
38IGF1R_20145208_ChIP-Seq_DFB_Human1.56457335
39UBF1/2_26484160_Chip-Seq_HMECs_Human1.56348056
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.56146449
41TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56143225
42PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.54816408
43P63_26484246_Chip-Seq_KERATINOCYTES_Human1.54071218
44CLOCK_20551151_ChIP-Seq_293T_Human1.53583906
45FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.53428410
46FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.51058038
47ESR1_20079471_ChIP-ChIP_T-47D_Human1.51035707
48UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48409702
49ZNF217_24962896_ChIP-Seq_MCF-7_Human1.47067356
50* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.45149734
51PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.43346539
52* FOXA1_25552417_ChIP-Seq_VCAP_Human1.43190613
53FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.43172056
54CJUN_26792858_Chip-Seq_BT549_Human1.42112496
55MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41498046
56RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.38931443
57SOX2_20726797_ChIP-Seq_SW620_Human1.38109048
58KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37862369
59CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.35062379
60GATA1_19941826_ChIP-Seq_K562_Human1.34036389
61* REST_21632747_ChIP-Seq_MESCs_Mouse1.33652185
62TRIM28_21343339_ChIP-Seq_HEK293_Human1.33053453
63ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.31473148
64TP53_22127205_ChIP-Seq_IMR90_Human1.30037496
65RUNX1_27514584_Chip-Seq_MCF-7_Human1.29296957
66ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.28868832
67REST_19997604_ChIP-ChIP_NEURONS_Mouse1.28510180
68TFEB_21752829_ChIP-Seq_HELA_Human1.26802053
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25875866
70TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.24678452
71NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.23508790
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.22620677
73EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.21845705
74NFIB_24661679_ChIP-Seq_LUNG_Mouse1.21672275
75* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.21150115
76* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20618124
77KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.20481004
78HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.20346150
79KDM2B_26808549_Chip-Seq_K562_Human1.19715625
80WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.17070840
81FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.16296452
82JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.15045829
83REST_18959480_ChIP-ChIP_MESCs_Mouse1.14425885
84AR_21909140_ChIP-Seq_LNCAP_Human1.13684005
85ZNF274_21170338_ChIP-Seq_K562_Hela1.13348241
86NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.11075358
87STAT3_23295773_ChIP-Seq_U87_Human1.10108356
88STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.09992199
89FOXA2_19822575_ChIP-Seq_HepG2_Human1.09885012
90DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.09709114
91KLF5_25053715_ChIP-Seq_YYC3_Human1.08459006
92STAT6_21828071_ChIP-Seq_BEAS2B_Human1.07866612
93GATA3_24758297_ChIP-Seq_MCF-7_Human1.07844669
94BCAT_22108803_ChIP-Seq_LS180_Human1.07503079
95PPARA_22158963_ChIP-Seq_LIVER_Mouse1.06870222
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06812956
97WT1_19549856_ChIP-ChIP_CCG9911_Human1.05726176
98JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05404514
99TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04978000
100KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.03440302
101TET1_21451524_ChIP-Seq_MESCs_Mouse1.01667101
102GATA4_25053715_ChIP-Seq_YYC3_Human1.00929653
103SMC4_20622854_ChIP-Seq_HELA_Human1.00873813
104ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.00619693
105* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.00448449
106DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00207205
107LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99911561
108NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99052989
109OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98739366
110* ERG_20517297_ChIP-Seq_VCAP_Human0.98010670
111TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97961971
112TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97449559
113VDR_22108803_ChIP-Seq_LS180_Human0.97396094
114TBX20_22328084_ChIP-Seq_HEART_Mouse0.96933457
115TBX20_22080862_ChIP-Seq_HEART_Mouse0.96933457
116STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.96548529
117VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.96387899
118ESR1_15608294_ChIP-ChIP_MCF-7_Human0.96148282
119EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.95747740
120SMC1_22415368_ChIP-Seq_MEFs_Mouse0.94902971
121ETV2_25802403_ChIP-Seq_MESCs_Mouse0.94865413
122AHR_22903824_ChIP-Seq_MCF-7_Human0.94773090
123SALL4_18804426_ChIP-ChIP_XEN_Mouse0.94729845
124TP63_22573176_ChIP-Seq_HFKS_Human0.94607536
125CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94154229
126CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.93695681
127EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93386247
128MITF_21258399_ChIP-Seq_MELANOMA_Human0.92708870
129CTCF_27219007_Chip-Seq_ERYTHROID_Human0.91179557
130* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.90389177
131AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90279500
132BRD4_25478319_ChIP-Seq_HGPS_Human0.90222643
133GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.90145787
134SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89967770
135TP63_17297297_ChIP-ChIP_HaCaT_Human0.89381231
136STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88494796
137NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.87814854
138CREB1_26743006_Chip-Seq_LNCaP_Human0.86172364
139SMAD3_21741376_ChIP-Seq_ESCs_Human0.86164817
140CDX2_19796622_ChIP-Seq_MESCs_Mouse0.85432522
141ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85211148
142ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.85023923
143ESR2_21235772_ChIP-Seq_MCF-7_Human0.84890886
144ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.84613794
145PKCTHETA_26484144_Chip-Seq_BREAST_Human0.84478947
146FOXH1_21741376_ChIP-Seq_ESCs_Human0.84473174
147EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83861415
148PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83798582
149FOXO3_23340844_ChIP-Seq_DLD1_Human0.83139433
150RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.83065821
151* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.82541724
152TP63_23658742_ChIP-Seq_EP156T_Human0.82385257
153* EZH2_27294783_Chip-Seq_ESCs_Mouse0.80356632
154GATA2_21666600_ChIP-Seq_HMVEC_Human0.80328165
155GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.79254815
156CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.78946408
157TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.78506557
158FLI1_21867929_ChIP-Seq_TH2_Mouse0.78453037
159WT1_25993318_ChIP-Seq_PODOCYTE_Human0.77858205
160* GATA6_25053715_ChIP-Seq_YYC3_Human0.77076949
161NRF2_20460467_ChIP-Seq_MEFs_Mouse0.76589944
162NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.76589944
163* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.76412512
164DROSHA_22980978_ChIP-Seq_HELA_Human0.75884917
165MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.74715541
166* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.74643263
167SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.74453826
168* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.74448336
169CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.74206340

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002877_abnormal_melanocyte_morpholog6.10918124
2MP0003283_abnormal_digestive_organ5.54992470
3MP0009780_abnormal_chondrocyte_physiolo4.64688104
4MP0004043_abnormal_pH_regulation4.55748217
5MP0002693_abnormal_pancreas_physiology4.32159319
6MP0002909_abnormal_adrenal_gland4.21188573
7MP0008438_abnormal_cutaneous_collagen3.99195075
8MP0001944_abnormal_pancreas_morphology3.84393135
9MP0000013_abnormal_adipose_tissue3.60655986
10MP0004272_abnormal_basement_membrane3.49201052
11MP0010386_abnormal_urinary_bladder3.29156850
12MP0003195_calcinosis3.13816898
13MP0005379_endocrine/exocrine_gland_phen3.03741250
14MP0003705_abnormal_hypodermis_morpholog3.01456029
15MP0000678_abnormal_parathyroid_gland3.01235014
16MP0003136_yellow_coat_color2.88616510
17MP0005220_abnormal_exocrine_pancreas2.82972289
18MP0003183_abnormal_peptide_metabolism2.75445609
19MP0005409_darkened_coat_color2.66934386
20MP0003566_abnormal_cell_adhesion2.49092652
21MP0002837_dystrophic_cardiac_calcinosis2.47999477
22MP0000015_abnormal_ear_pigmentation2.43371540
23MP0002078_abnormal_glucose_homeostasis2.32275070
24MP0004381_abnormal_hair_follicle2.21196632
25MP0000462_abnormal_digestive_system2.19176056
26MP0010368_abnormal_lymphatic_system2.16163848
27MP0010352_gastrointestinal_tract_polyps2.07770842
28MP0004264_abnormal_extraembryonic_tissu2.01171280
29MP0006072_abnormal_retinal_apoptosis1.97338565
30MP0003300_gastrointestinal_ulcer1.94508144
31MP0005275_abnormal_skin_tensile1.94076278
32MP0010030_abnormal_orbit_morphology1.91224518
33MP0005623_abnormal_meninges_morphology1.89236458
34MP0000003_abnormal_adipose_tissue1.88598374
35MP0002060_abnormal_skin_morphology1.80391896
36MP0002638_abnormal_pupillary_reflex1.79150446
37MP0005257_abnormal_intraocular_pressure1.76771982
38MP0005646_abnormal_pituitary_gland1.74966690
39MP0003950_abnormal_plasma_membrane1.74059328
40MP0004233_abnormal_muscle_weight1.69420074
41MP0001879_abnormal_lymphatic_vessel1.66459162
42MP0002896_abnormal_bone_mineralization1.63484731
43MP0002234_abnormal_pharynx_morphology1.62565687
44MP0003453_abnormal_keratinocyte_physiol1.56688905
45MP0005023_abnormal_wound_healing1.55925199
46MP0006054_spinal_hemorrhage1.54984612
47MP0003279_aneurysm1.54673106
48MP0002796_impaired_skin_barrier1.54538730
49MP0002928_abnormal_bile_duct1.50934686
50MP0003172_abnormal_lysosome_physiology1.50642258
51MP0005058_abnormal_lysosome_morphology1.49966651
52MP0005408_hypopigmentation1.47453427
53MP0008961_abnormal_basal_metabolism1.47348396
54MP0005503_abnormal_tendon_morphology1.47076831
55MP0001986_abnormal_taste_sensitivity1.45969638
56MP0000372_irregular_coat_pigmentation1.45311176
57MP0005174_abnormal_tail_pigmentation1.45251170
58MP0000613_abnormal_salivary_gland1.44703523
59MP0000467_abnormal_esophagus_morphology1.43139407
60MP0003091_abnormal_cell_migration1.42964040
61MP0003953_abnormal_hormone_level1.39504616
62MP0000537_abnormal_urethra_morphology1.34441765
63MP0003868_abnormal_feces_composition1.34435322
64MP0005197_abnormal_uvea_morphology1.33962166
65MP0009643_abnormal_urine_homeostasis1.33655952
66MP0001765_abnormal_ion_homeostasis1.33358803
67MP0000762_abnormal_tongue_morphology1.32575217
68MP0005075_abnormal_melanosome_morpholog1.30608588
69MP0005501_abnormal_skin_physiology1.24342508
70MP0004858_abnormal_nervous_system1.23719260
71MP0003122_maternal_imprinting1.23576762
72MP0002095_abnormal_skin_pigmentation1.17282953
73MP0005171_absent_coat_pigmentation1.16860460
74MP0002075_abnormal_coat/hair_pigmentati1.16701399
75MP0003119_abnormal_digestive_system1.14730914
76MP0003252_abnormal_bile_duct1.13449995
77MP0000733_abnormal_muscle_development1.12430754
78MP0000767_abnormal_smooth_muscle1.12175849
79MP0006138_congestive_heart_failure1.10695445
80MP0001348_abnormal_lacrimal_gland1.09854169
81MP0010678_abnormal_skin_adnexa1.04369441
82MP0001270_distended_abdomen1.03958029
83MP0001299_abnormal_eye_distance/1.02322727
84MP0005165_increased_susceptibility_to1.00411699
85MP0005645_abnormal_hypothalamus_physiol1.00286037
86MP0004270_analgesia0.99740217
87MP0000631_abnormal_neuroendocrine_gland0.99654208
88MP0001661_extended_life_span0.98564295
89MP0001756_abnormal_urination0.97890953
90MP0000681_abnormal_thyroid_gland0.97403820
91MP0005187_abnormal_penis_morphology0.96976591
92MP0005310_abnormal_salivary_gland0.95079291
93MP0005535_abnormal_body_temperature0.94718496
94MP0001216_abnormal_epidermal_layer0.94486780
95MP0004782_abnormal_surfactant_physiolog0.94278761
96MP0003941_abnormal_skin_development0.94244467
97MP0000377_abnormal_hair_follicle0.92405430
98MP0003959_abnormal_lean_body0.90410144
99MP0009053_abnormal_anal_canal0.90061335
100MP0003866_abnormal_defecation0.89221508
101MP0001958_emphysema0.89138440
102MP0005253_abnormal_eye_physiology0.88383645
103MP0002876_abnormal_thyroid_physiology0.85705070
104MP0005636_abnormal_mineral_homeostasis0.85241120
105MP0000639_abnormal_adrenal_gland0.85089471
106MP0001324_abnormal_eye_pigmentation0.84597787
107MP0005365_abnormal_bile_salt0.83710327
108MP0010771_integument_phenotype0.83444839
109MP0002139_abnormal_hepatobiliary_system0.82926440
110MP0001666_abnormal_nutrient_absorption0.82633425
111MP0001664_abnormal_digestion0.81791333
112MP0005375_adipose_tissue_phenotype0.80984106
113MP0000538_abnormal_urinary_bladder0.77707206
114MP0002089_abnormal_postnatal_growth/wei0.77215531
115MP0005248_abnormal_Harderian_gland0.76706755
116MP0005508_abnormal_skeleton_morphology0.76498981
117MP0003045_fibrosis0.76312524
118MP0000230_abnormal_systemic_arterial0.75928789
119MP0002138_abnormal_hepatobiliary_system0.75575497
120MP0000371_diluted_coat_color0.74442116
121MP0002163_abnormal_gland_morphology0.73588577
122MP0004019_abnormal_vitamin_homeostasis0.73309102
123MP0003890_abnormal_embryonic-extraembry0.72687791
124MP0001502_abnormal_circadian_rhythm0.72335325
125MP0002118_abnormal_lipid_homeostasis0.71997823
126MP0005076_abnormal_cell_differentiation0.71723167
127MP0005448_abnormal_energy_balance0.69578896
128MP0002168_other_aberrant_phenotype0.69300334
129MP0008260_abnormal_autophagy0.68176391
130MP0003828_pulmonary_edema0.66802391
131MP0002108_abnormal_muscle_morphology0.66410024
132MP0005595_abnormal_vascular_smooth0.64382103
133MP0000470_abnormal_stomach_morphology0.64339508
134MP0000367_abnormal_coat/_hair0.64185310
135MP0009672_abnormal_birth_weight0.62983943
136MP0005330_cardiomyopathy0.62906792
137MP0008004_abnormal_stomach_pH0.62119634
138MP0000751_myopathy0.61782551
139MP0000627_abnormal_mammary_gland0.60909980
140MP0002938_white_spotting0.59782450
141MP0005334_abnormal_fat_pad0.58340198
142MP0000534_abnormal_ureter_morphology0.58334006
143MP0005193_abnormal_anterior_eye0.58190228
144MP0001614_abnormal_blood_vessel0.56839193
145MP0005083_abnormal_biliary_tract0.56412281
146MP0004885_abnormal_endolymph0.55136898
147MP0001243_abnormal_dermal_layer0.54850692
148MP0003634_abnormal_glial_cell0.54647056
149MP0009384_cardiac_valve_regurgitation0.54068190
150MP0003191_abnormal_cellular_cholesterol0.53660278
151MP0001186_pigmentation_phenotype0.53554279
152MP0009840_abnormal_foam_cell0.53210616
153MP0009642_abnormal_blood_homeostasis0.51636243
154MP0000163_abnormal_cartilage_morphology0.51122154
155MP0003795_abnormal_bone_structure0.51044473
156MP0010234_abnormal_vibrissa_follicle0.49926576
157MP0003879_abnormal_hair_cell0.47424941
158MP0004036_abnormal_muscle_relaxation0.47196596
159MP0002177_abnormal_outer_ear0.46902901
160MP0000579_abnormal_nail_morphology0.46772608
161MP0002295_abnormal_pulmonary_circulatio0.46156446
162MP0009703_decreased_birth_body0.43949127
163MP0001849_ear_inflammation0.43370927
164MP0002098_abnormal_vibrissa_morphology0.43231105
165MP0001346_abnormal_lacrimal_gland0.43020639
166MP0003329_amyloid_beta_deposits0.42540047
167MP0004185_abnormal_adipocyte_glucose0.42308954

Predicted human phenotypes

RankGene SetZ-score
1Hyperinsulinemic hypoglycemia (HP:0000825)8.26768095
2Hypoglycemic seizures (HP:0002173)7.39835654
3Symptomatic seizures (HP:0011145)6.70131198
4Hypoglycemic coma (HP:0001325)6.65008149
5Elevated circulating parathyroid hormone (PTH) level (HP:0003165)6.41196649
6Insulin-resistant diabetes mellitus (HP:0000831)5.36765697
7Protrusio acetabuli (HP:0003179)5.20454436
8Hyperglycemia (HP:0003074)4.88830145
9Abnormality of endocrine pancreas physiology (HP:0012093)4.68852894
10Abnormality of the pancreatic islet cells (HP:0006476)4.68852894
11Ketoacidosis (HP:0001993)4.65268950
12Large for gestational age (HP:0001520)4.58396584
13Premature rupture of membranes (HP:0001788)4.53532170
14Pancreatic islet-cell hyperplasia (HP:0004510)4.47008478
15Mucopolysacchariduria (HP:0008155)4.43931975
16Urinary glycosaminoglycan excretion (HP:0003541)4.43931975
17Abnormal pancreas size (HP:0012094)4.34245629
18White forelock (HP:0002211)4.26234515
19Abnormality of calcium-phosphate metabolism (HP:0100530)4.18418785
20Abnormality of polysaccharide metabolism (HP:0011012)4.07908829
21Abnormality of glycosaminoglycan metabolism (HP:0004371)4.07908829
22Abnormality of mucopolysaccharide metabolism (HP:0011020)4.07908829
23Dysostosis multiplex (HP:0000943)3.99483691
24Late onset (HP:0003584)3.94777465
25Decreased circulating renin level (HP:0003351)3.91630722
26Vertebral compression fractures (HP:0002953)3.85981233
27Patchy hypopigmentation of hair (HP:0011365)3.82455509
28Arterial tortuosity (HP:0005116)3.67523242
29Generalized aminoaciduria (HP:0002909)3.53997510
30Vascular tortuosity (HP:0004948)3.49451664
31Cerebral aneurysm (HP:0004944)3.47849465
32Atrophic scars (HP:0001075)3.38649664
33Blue irides (HP:0000635)3.34210655
34Popliteal pterygium (HP:0009756)3.33048643
35Hypokalemia (HP:0002900)3.29228429
36Abnormality of the distal phalanges of the toes (HP:0010182)3.24645302
37Aplasia/Hypoplasia of the fovea (HP:0008060)3.19695233
38Hypoplasia of the fovea (HP:0007750)3.19695233
39Insulin resistance (HP:0000855)3.15443181
40Ocular albinism (HP:0001107)3.14380078
41Agitation (HP:0000713)3.01031055
42Osteolytic defects of the phalanges of the hand (HP:0009771)2.97185241
43Osteolytic defects of the hand bones (HP:0009699)2.97185241
44Abnormality of the intrinsic pathway (HP:0010989)2.96986409
45Abnormality of the fovea (HP:0000493)2.95310146
46Right ventricular cardiomyopathy (HP:0011663)2.92142027
47Hyperparathyroidism (HP:0000843)2.91433719
48Abnormality of aromatic amino acid family metabolism (HP:0004338)2.88300544
49Osteomalacia (HP:0002749)2.88219778
50Fragile skin (HP:0001030)2.83644633
51Cervical subluxation (HP:0003308)2.82690522
52Hypopigmentation of the fundus (HP:0007894)2.82436159
53Aortic dissection (HP:0002647)2.81472556
54Short nail (HP:0001799)2.77423972
55Upper limb amyotrophy (HP:0009129)2.75581101
56Distal upper limb amyotrophy (HP:0007149)2.75581101
57Thoracolumbar scoliosis (HP:0002944)2.74491071
58Pterygium (HP:0001059)2.72335525
59Abnormality of renin-angiotensin system (HP:0000847)2.69825857
60Ketosis (HP:0001946)2.69449628
61Hypoplasia of the iris (HP:0007676)2.67936562
62Conjugated hyperbilirubinemia (HP:0002908)2.63581487
63Unilateral renal agenesis (HP:0000122)2.62965340
64Wormian bones (HP:0002645)2.62609448
65Abnormality of glutamine family amino acid metabolism (HP:0010902)2.60408427
66Aortic aneurysm (HP:0004942)2.60116701
67Hyperactive renin-angiotensin system (HP:0000841)2.60052215
68Trismus (HP:0000211)2.56917262
69Elbow flexion contracture (HP:0002987)2.56635659
70Progressive neurologic deterioration (HP:0002344)2.53906006
71Abnormality of potassium homeostasis (HP:0011042)2.50502673
72Natal tooth (HP:0000695)2.50199232
73Pheochromocytoma (HP:0002666)2.47547235
74Ulnar bowing (HP:0003031)2.47050307
75Limb hypertonia (HP:0002509)2.44637676
76Shallow orbits (HP:0000586)2.43901338
77Cardiovascular calcification (HP:0011915)2.42895910
78Abdominal distention (HP:0003270)2.42234963
79Iris hypopigmentation (HP:0007730)2.41110601
80Aplasia/Hypoplasia of the macula (HP:0008059)2.38694682
81Hand muscle atrophy (HP:0009130)2.38437920
82Retinal atrophy (HP:0001105)2.37818215
83Exocrine pancreatic insufficiency (HP:0001738)2.37176584
84Aplasia/Hypoplasia affecting the retina (HP:0008061)2.36993245
85Spinal rigidity (HP:0003306)2.35730994
86Prominent metopic ridge (HP:0005487)2.30362238
87Vascular calcification (HP:0004934)2.29685115
88Chronic bronchitis (HP:0004469)2.28579722
89Hypsarrhythmia (HP:0002521)2.26258188
90EEG with generalized epileptiform discharges (HP:0011198)2.25919630
91Flat acetabular roof (HP:0003180)2.25293129
92Blue sclerae (HP:0000592)2.24886145
93Papilledema (HP:0001085)2.23284487
94Abnormality of dentin (HP:0010299)2.21876955
95Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.19896858
96Hyperkalemia (HP:0002153)2.19306923
97Irregular vertebral endplates (HP:0003301)2.19073177
98Hypothermia (HP:0002045)2.18075035
99Protuberant abdomen (HP:0001538)2.17916259
100Thin bony cortex (HP:0002753)2.17768263
101Abnormality of the acetabulum (HP:0003170)2.15203177
102Epileptiform EEG discharges (HP:0011182)2.13260844
103Abnormal auditory evoked potentials (HP:0006958)2.10921774
104Hypercortisolism (HP:0001578)2.08505344
105Mitral stenosis (HP:0001718)2.08407752
106Bilateral sensorineural hearing impairment (HP:0008619)2.08322277
107Lip pit (HP:0100267)2.08083131
108Distal lower limb muscle weakness (HP:0009053)2.07062906
109Cortical visual impairment (HP:0100704)2.06671428
110Milia (HP:0001056)2.06061359
111Coxa vara (HP:0002812)2.04387468
112Gout (HP:0001997)2.03402709
113Focal segmental glomerulosclerosis (HP:0000097)2.01650719
114Hypokalemic alkalosis (HP:0001949)2.01394588
115Bladder diverticulum (HP:0000015)2.01203216
116Neuroendocrine neoplasm (HP:0100634)2.00907794
117Alopecia of scalp (HP:0002293)1.99668278
118Menstrual irregularities (HP:0000858)1.99574908
119Hypokinesia (HP:0002375)1.97847498
120Broad face (HP:0000283)1.97009093
121Abnormality of liposaccharide metabolism (HP:0010968)1.95795625
122Abnormality of glycosphingolipid metabolism (HP:0004343)1.95795625
123Abnormality of glycolipid metabolism (HP:0010969)1.95795625
124Spinal cord compression (HP:0002176)1.94418145
125Congenital glaucoma (HP:0001087)1.93732913
126Dysautonomia (HP:0002459)1.93219624
127Hypophosphatemia (HP:0002148)1.93047058
128Restlessness (HP:0000711)1.92654108
129J-shaped sella turcica (HP:0002680)1.91854799
130Abnormality of the metopic suture (HP:0005556)1.91531856
131Follicular hyperkeratosis (HP:0007502)1.91039805
132Advanced eruption of teeth (HP:0006288)1.90366037
133Increased connective tissue (HP:0009025)1.88904725
134Abnormal protein glycosylation (HP:0012346)1.88366028
135Abnormal glycosylation (HP:0012345)1.88366028
136Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.88366028
137Abnormal protein N-linked glycosylation (HP:0012347)1.88366028
138Aneurysm (HP:0002617)1.88048318
139Villous atrophy (HP:0011473)1.86096691
140Abnormality of small intestinal villus morphology (HP:0011472)1.86096691
141Ankyloglossia (HP:0010296)1.86047904
142Elevated alkaline phosphatase (HP:0003155)1.85842772
143Postural tremor (HP:0002174)1.85605638
144Abnormality of the common coagulation pathway (HP:0010990)1.85421686
145Ankle contracture (HP:0006466)1.85407700
146Increased circulating renin level (HP:0000848)1.85022126
147Onycholysis (HP:0001806)1.84761156
148Reduced subcutaneous adipose tissue (HP:0003758)1.83702042
149Hyperacusis (HP:0010780)1.83540523
150Cutaneous melanoma (HP:0012056)1.83126057
151Skin nodule (HP:0200036)1.82730040
152Pili torti (HP:0003777)1.81093244
153Vacuolated lymphocytes (HP:0001922)1.80405995
154Malnutrition (HP:0004395)1.79873863
155Abnormality of the nasal mucosa (HP:0000433)1.79751978
156Flat capital femoral epiphysis (HP:0003370)1.79553590
157Tetraparesis (HP:0002273)1.79198860
158Aplasia cutis congenita (HP:0001057)1.78253819
159Achilles tendon contracture (HP:0001771)1.78156702
160Abnormality of chloride homeostasis (HP:0011422)1.75991025
161Mildly elevated creatine phosphokinase (HP:0008180)1.75325548
162Adrenal overactivity (HP:0002717)1.74887332
163Heterochromia iridis (HP:0001100)1.74157235
164Hyperphosphatemia (HP:0002905)1.73893988
165Soft skin (HP:0000977)1.73753740
166Abnormality of alkaline phosphatase activity (HP:0004379)1.73475622
167Hypotension (HP:0002615)1.72607695
168Hyperphosphaturia (HP:0003109)1.72502280
169Abnormality of monocarboxylic acid metabolism (HP:0010996)1.71672968
170Nuclear cataract (HP:0100018)1.71587005
171Congenital sensorineural hearing impairment (HP:0008527)1.71063099
172Glomerulosclerosis (HP:0000096)1.70710716
173Asymmetric septal hypertrophy (HP:0001670)1.69944933
174Plantar hyperkeratosis (HP:0007556)1.69142439
175Abnormality of purine metabolism (HP:0004352)1.67838950
176Visual hallucinations (HP:0002367)1.67437276
177Glucose intolerance (HP:0000833)1.67402410
178Distal lower limb amyotrophy (HP:0008944)1.67381094
179Neoplasm of the heart (HP:0100544)1.67000892
180Premature graying of hair (HP:0002216)1.66729746
181Generalized hypopigmentation (HP:0007513)1.66184226
182Abnormality of carpal bone ossification (HP:0006257)1.65147558
183Macroorchidism (HP:0000053)1.64252553
184Joint stiffness (HP:0001387)1.64225264
185Neonatal short-limb short stature (HP:0008921)1.63183054
186Abnormal enzyme/coenzyme activity (HP:0012379)1.62934136
187Genu recurvatum (HP:0002816)1.62368382
188Fragile nails (HP:0001808)1.61878374

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR7.36591030
2PASK6.29366207
3MAPK154.06780204
4PRKD33.54514900
5TAOK33.27275373
6HIPK23.21860671
7PDK23.20213591
8LMTK23.12329481
9ERN12.91330586
10MAP3K22.72203698
11FLT32.58578434
12PAK42.29228737
13MET2.28953815
14NTRK12.24389481
15SCYL22.20808660
16FRK2.10150991
17ICK2.08548386
18TGFBR22.01533014
19SMG11.97309594
20NME21.96902662
21EPHA31.93688565
22CAMKK21.75056404
23PDGFRA1.71471566
24MAP3K11.70331476
25WNK41.70255522
26EEF2K1.68296910
27EPHB21.64529599
28PTK21.54898321
29TRIB31.50928370
30PTK61.47593239
31MAPKAPK31.43215079
32MYLK1.41008307
33UHMK11.39188492
34LATS21.37890433
35MST1R1.34059265
36IRAK11.29222166
37SIK11.27431544
38DDR21.25980400
39CDC42BPA1.17378173
40TTN1.15013235
41PRKCH1.13184909
42CDK121.11014886
43MAP2K21.08555789
44FER1.08181007
45BRSK21.07209496
46NTRK31.06743829
47PKN21.05358286
48DYRK1B0.99975305
49IRAK30.99783120
50PAK30.99531790
51TRPM70.97106332
52PRKG20.96963995
53WEE10.95106540
54EPHB10.94975728
55PRKD20.90186975
56STK240.89670633
57MAP3K120.83064993
58ABL20.82655944
59ILK0.81251580
60PRKCE0.79749260
61STK380.79103955
62RET0.76832018
63EIF2AK30.75757861
64AKT30.73912859
65BCKDK0.71567266
66LIMK10.70508046
67FGFR40.67632843
68MUSK0.66934153
69MAPK110.65331489
70BCR0.64773556
71PIM20.64014703
72ITK0.61842462
73MELK0.60981563
74LRRK20.60291396
75TGFBR10.59681074
76NLK0.59360042
77EIF2AK10.58665347
78JAK20.58534548
79PAK20.58416336
80NEK10.57532269
81GSK3A0.57062853
82LATS10.56560840
83ARAF0.56121691
84JAK30.55047146
85MAPKAPK50.54477385
86BRAF0.53538490
87PBK0.53205862
88PRKD10.53081342
89BMX0.51612081
90CAMK2D0.50913273
91MARK30.50579180
92STK30.50353785
93AKT20.49978970
94TESK10.49484365
95CAMKK10.49108613
96PDGFRB0.48146619
97RPS6KB20.46603759
98PRKCI0.45766060
99CDK60.45388538
100WNK10.45271484
101PRKAA10.45152835
102MARK20.44657104
103CDK80.44492718
104ERBB40.43559580
105IRAK20.43408545
106MOS0.43270074
107MAP3K30.42482647
108TIE10.42001376
109DMPK0.40821372
110NEK90.40584823
111CDK70.39803702
112RPS6KA20.39600672
113NEK60.39347357
114OXSR10.39170276
115PTK2B0.39044928
116JAK10.38284748
117IGF1R0.37727063
118FGFR30.37269160
119PRKACG0.34685294
120MAP2K10.34621924
121ZAP700.33005979
122SGK4940.32787791
123SGK2230.32787791
124MAP3K60.31973961
125CSNK1A10.31720372
126STK38L0.30386561
127EPHA20.30018928
128BRSK10.29904113
129ROCK10.29622163
130CAMK2B0.29517227
131CDK50.28341534
132KSR20.27928589
133MAPK70.27399877
134MTOR0.26749314
135ROCK20.26576204
136PRKACA0.25953330
137PRKAA20.24627501
138RIPK10.23342608
139WNK30.22654319
140CSNK1A1L0.21233885
141SRC0.21194936
142RPS6KB10.19376209
143PRKDC0.18985268
144CAMK1G0.18194149
145BRD40.18130195
146ALK0.16593289
147MAPK140.16459339
148PRKCA0.16105184
149PIK3CG0.15825876
150CSK0.14709837
151PDPK10.14692484
152CHUK0.14403337
153MAPK90.12509235
154KDR0.12191129
155INSR0.12023742
156STK390.10959970

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049509.23470496
2Protein export_Homo sapiens_hsa030605.24915161
3Sulfur metabolism_Homo sapiens_hsa009204.06844112
4Protein processing in endoplasmic reticulum_Homo sapiens_hsa041413.21902792
5ECM-receptor interaction_Homo sapiens_hsa045123.21335675
6Insulin secretion_Homo sapiens_hsa049112.97768727
7Cyanoamino acid metabolism_Homo sapiens_hsa004602.50566566
8Type II diabetes mellitus_Homo sapiens_hsa049302.22671412
9Small cell lung cancer_Homo sapiens_hsa052222.21166210
10Arginine biosynthesis_Homo sapiens_hsa002202.20698085
11Focal adhesion_Homo sapiens_hsa045102.13610600
12Vibrio cholerae infection_Homo sapiens_hsa051102.13484499
13Adherens junction_Homo sapiens_hsa045202.01135795
14Fructose and mannose metabolism_Homo sapiens_hsa000512.00756957
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.89382530
16Carbohydrate digestion and absorption_Homo sapiens_hsa049731.87741251
17Type I diabetes mellitus_Homo sapiens_hsa049401.85567364
18N-Glycan biosynthesis_Homo sapiens_hsa005101.75567768
19Selenocompound metabolism_Homo sapiens_hsa004501.71736530
20Lysosome_Homo sapiens_hsa041421.70778196
21Glycosaminoglycan degradation_Homo sapiens_hsa005311.64567183
22Cocaine addiction_Homo sapiens_hsa050301.54068634
23Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.53992883
24Proteoglycans in cancer_Homo sapiens_hsa052051.46740253
25Amoebiasis_Homo sapiens_hsa051461.36971699
26Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.36924389
27Other glycan degradation_Homo sapiens_hsa005111.28677212
28Pentose phosphate pathway_Homo sapiens_hsa000301.27425177
29Sulfur relay system_Homo sapiens_hsa041221.24458757
30Tight junction_Homo sapiens_hsa045301.16175136
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.14969702
32Butanoate metabolism_Homo sapiens_hsa006501.12456252
33AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.11103127
34Pancreatic secretion_Homo sapiens_hsa049721.10833956
35Central carbon metabolism in cancer_Homo sapiens_hsa052301.10567977
36Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.10240303
37Chronic myeloid leukemia_Homo sapiens_hsa052201.09196200
38Insulin resistance_Homo sapiens_hsa049311.09187192
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.08325360
40Tryptophan metabolism_Homo sapiens_hsa003801.05987823
41Pancreatic cancer_Homo sapiens_hsa052121.04492565
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.02981314
43SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00668220
44Thyroid hormone synthesis_Homo sapiens_hsa049180.99841867
45Hippo signaling pathway_Homo sapiens_hsa043900.99609165
46Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98419608
47TGF-beta signaling pathway_Homo sapiens_hsa043500.98314293
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.97971774
49Biosynthesis of amino acids_Homo sapiens_hsa012300.97408311
50Galactose metabolism_Homo sapiens_hsa000520.96191345
51Notch signaling pathway_Homo sapiens_hsa043300.95594233
52PI3K-Akt signaling pathway_Homo sapiens_hsa041510.95391822
53Glutathione metabolism_Homo sapiens_hsa004800.94927055
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93882096
55Amphetamine addiction_Homo sapiens_hsa050310.93475171
56Glucagon signaling pathway_Homo sapiens_hsa049220.93219241
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.93119748
58Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.91666339
59Taste transduction_Homo sapiens_hsa047420.91524366
60Folate biosynthesis_Homo sapiens_hsa007900.91088724
61Leukocyte transendothelial migration_Homo sapiens_hsa046700.91074303
62Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90289167
63Circadian rhythm_Homo sapiens_hsa047100.90038717
64Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.88331198
65Pathways in cancer_Homo sapiens_hsa052000.87791124
66Collecting duct acid secretion_Homo sapiens_hsa049660.87677658
67Arginine and proline metabolism_Homo sapiens_hsa003300.86882950
68Sphingolipid metabolism_Homo sapiens_hsa006000.84820798
69ABC transporters_Homo sapiens_hsa020100.84313615
70Fatty acid elongation_Homo sapiens_hsa000620.83050678
71Tyrosine metabolism_Homo sapiens_hsa003500.82411860
72Prolactin signaling pathway_Homo sapiens_hsa049170.81702685
73Regulation of autophagy_Homo sapiens_hsa041400.79907132
74Dilated cardiomyopathy_Homo sapiens_hsa054140.79075229
75Renin-angiotensin system_Homo sapiens_hsa046140.78895074
76Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.78890465
77MicroRNAs in cancer_Homo sapiens_hsa052060.77121639
78Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.76094589
79Linoleic acid metabolism_Homo sapiens_hsa005910.75177922
80Melanoma_Homo sapiens_hsa052180.75005311
81Prion diseases_Homo sapiens_hsa050200.74534685
82Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73634161
83Endometrial cancer_Homo sapiens_hsa052130.72968614
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72961194
85Aldosterone synthesis and secretion_Homo sapiens_hsa049250.70965238
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.70698547
87Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68201649
88Basal cell carcinoma_Homo sapiens_hsa052170.67832122
89Phenylalanine metabolism_Homo sapiens_hsa003600.67560253
90Starch and sucrose metabolism_Homo sapiens_hsa005000.66494198
91Histidine metabolism_Homo sapiens_hsa003400.65160559
92Fat digestion and absorption_Homo sapiens_hsa049750.64379770
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64186355
94Dopaminergic synapse_Homo sapiens_hsa047280.63003689
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.62503776
96Pentose and glucuronate interconversions_Homo sapiens_hsa000400.62077551
97Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.61692003
98Cholinergic synapse_Homo sapiens_hsa047250.61381027
99Vitamin digestion and absorption_Homo sapiens_hsa049770.61279826
100Glioma_Homo sapiens_hsa052140.60564263
101p53 signaling pathway_Homo sapiens_hsa041150.60496811
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59683506
103Estrogen signaling pathway_Homo sapiens_hsa049150.59336103
104Long-term potentiation_Homo sapiens_hsa047200.59182083
105Hepatitis C_Homo sapiens_hsa051600.59119281
106Complement and coagulation cascades_Homo sapiens_hsa046100.55108872
107HIF-1 signaling pathway_Homo sapiens_hsa040660.53956228
108Serotonergic synapse_Homo sapiens_hsa047260.52691827
109Vitamin B6 metabolism_Homo sapiens_hsa007500.51918657
110Vascular smooth muscle contraction_Homo sapiens_hsa042700.50279612
111Insulin signaling pathway_Homo sapiens_hsa049100.48875326
112Synaptic vesicle cycle_Homo sapiens_hsa047210.48807408
113Circadian entrainment_Homo sapiens_hsa047130.46215050
114VEGF signaling pathway_Homo sapiens_hsa043700.46147170
115Nitrogen metabolism_Homo sapiens_hsa009100.45189724
116Hedgehog signaling pathway_Homo sapiens_hsa043400.44886082
117Non-small cell lung cancer_Homo sapiens_hsa052230.43845433
118GABAergic synapse_Homo sapiens_hsa047270.43434498
119cGMP-PKG signaling pathway_Homo sapiens_hsa040220.43240694
120Carbon metabolism_Homo sapiens_hsa012000.41638324
121Alcoholism_Homo sapiens_hsa050340.40844600
122Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.39581858
123Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39346539
124Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39191417
125Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.36735037
126Dorso-ventral axis formation_Homo sapiens_hsa043200.36212801
127AMPK signaling pathway_Homo sapiens_hsa041520.34691084
128Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33490369
129Fatty acid degradation_Homo sapiens_hsa000710.33032833
130Prostate cancer_Homo sapiens_hsa052150.32593088
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32263712
132Melanogenesis_Homo sapiens_hsa049160.30598671
133Ether lipid metabolism_Homo sapiens_hsa005650.29383996
134Thyroid cancer_Homo sapiens_hsa052160.28624169
135Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.27100464
136mTOR signaling pathway_Homo sapiens_hsa041500.26739406
137Ovarian steroidogenesis_Homo sapiens_hsa049130.26294095
138Lysine degradation_Homo sapiens_hsa003100.26145781
139Renal cell carcinoma_Homo sapiens_hsa052110.25478404
140Protein digestion and absorption_Homo sapiens_hsa049740.25168916
141Adipocytokine signaling pathway_Homo sapiens_hsa049200.25133879
142Bladder cancer_Homo sapiens_hsa052190.23933673
143Gastric acid secretion_Homo sapiens_hsa049710.23549538
144Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.23159987
145Renin secretion_Homo sapiens_hsa049240.22295326
146Phosphatidylinositol signaling system_Homo sapiens_hsa040700.20391608
147Mineral absorption_Homo sapiens_hsa049780.20095122
148Fatty acid metabolism_Homo sapiens_hsa012120.19670152
149Steroid biosynthesis_Homo sapiens_hsa001000.19528413
150Phagosome_Homo sapiens_hsa041450.19485865
151cAMP signaling pathway_Homo sapiens_hsa040240.17882770
152Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.15046757
153Bile secretion_Homo sapiens_hsa049760.13268943
154Inositol phosphate metabolism_Homo sapiens_hsa005620.12588959
155Neurotrophin signaling pathway_Homo sapiens_hsa047220.11896295
156Endocytosis_Homo sapiens_hsa041440.11516435
157Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.11135215

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