ATP6V1E2

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement (GO:0003351)9.93503656
2folic acid-containing compound biosynthetic process (GO:0009396)9.86472514
3regulation of plasminogen activation (GO:0010755)9.67153877
4cilium or flagellum-dependent cell motility (GO:0001539)9.63747384
5motile cilium assembly (GO:0044458)9.63211305
6reproduction (GO:0000003)9.56993083
7spermatid development (GO:0007286)9.55010282
8sulfur amino acid catabolic process (GO:0000098)8.47827865
9RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)8.37846099
10tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)8.37846099
11cilium movement (GO:0003341)8.32095019
12purine nucleotide salvage (GO:0032261)8.15708710
13regulation of cilium movement (GO:0003352)8.06303181
14cysteine metabolic process (GO:0006534)7.90478053
15epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.68908726
16microtubule nucleation (GO:0007020)7.63852254
17single fertilization (GO:0007338)7.44652621
18epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)7.36680620
19piRNA metabolic process (GO:0034587)7.31053868
20synaptonemal complex organization (GO:0070193)7.18239904
21sperm capacitation (GO:0048240)7.17959598
22synaptonemal complex assembly (GO:0007130)7.11111021
23male meiosis (GO:0007140)7.02903329
24adenosine metabolic process (GO:0046085)6.85592677
25white fat cell differentiation (GO:0050872)6.84450817
26microtubule depolymerization (GO:0007019)6.71145404
27spermatogenesis (GO:0007283)6.68228624
28male gamete generation (GO:0048232)6.66325325
29pteridine-containing compound biosynthetic process (GO:0042559)6.65471016
30negative regulation of DNA biosynthetic process (GO:2000279)6.65457884
31negative regulation of inclusion body assembly (GO:0090084)6.54529913
32desmosome organization (GO:0002934)6.33933673
33organic cation transport (GO:0015695)6.29432344
34fertilization (GO:0009566)6.28534635
35mitochondrial RNA metabolic process (GO:0000959)6.21294024
36gamete generation (GO:0007276)6.11762751
37alternative mRNA splicing, via spliceosome (GO:0000380)6.10633784
38IMP biosynthetic process (GO:0006188)6.00742541
39inner ear receptor cell development (GO:0060119)5.93201804
40histone H4-K12 acetylation (GO:0043983)5.89776220
41L-serine metabolic process (GO:0006563)5.75152780
42rRNA methylation (GO:0031167)5.67812768
43negative regulation of Ras GTPase activity (GO:0034261)5.62251635
44regulation of inclusion body assembly (GO:0090083)5.55613273
45calcium ion-dependent exocytosis (GO:0017156)5.50255451
46cellular process involved in reproduction in multicellular organism (GO:0022412)5.43145637
47germ cell development (GO:0007281)5.37112319
48tetrahydrofolate metabolic process (GO:0046653)5.31427243
49positive regulation of endothelial cell differentiation (GO:0045603)5.28971389
50folic acid-containing compound metabolic process (GO:0006760)5.23440503
51IMP metabolic process (GO:0046040)5.19107373
52regulation of vitamin D biosynthetic process (GO:0060556)5.16331474
53regulation of gonadotropin secretion (GO:0032276)5.15680767
54ventricular system development (GO:0021591)5.09591988
55galactose catabolic process (GO:0019388)5.09166963
56cell migration involved in heart development (GO:0060973)5.08027858
57cochlea development (GO:0090102)5.03971942
58cell recognition (GO:0008037)5.03605278
59rRNA modification (GO:0000154)4.99248159
60spermatid nucleus differentiation (GO:0007289)4.87052183
61regulation of branching involved in salivary gland morphogenesis (GO:0060693)4.86366990
62serine family amino acid biosynthetic process (GO:0009070)4.85983761
63negative regulation of catenin import into nucleus (GO:0035414)4.84072090
64male meiosis I (GO:0007141)4.83542854
65glycerol ether metabolic process (GO:0006662)4.81103504
66multicellular organismal reproductive process (GO:0048609)4.79777637
67negative regulation of keratinocyte proliferation (GO:0010839)4.79633786
68DNA methylation involved in gamete generation (GO:0043046)4.77612577
69chromosome organization involved in meiosis (GO:0070192)4.76800475
70chromosome condensation (GO:0030261)4.75516894
71regulation of microtubule-based movement (GO:0060632)4.68851507
72nucleotide salvage (GO:0043173)4.68757822
73DNA packaging (GO:0006323)4.65247302
74regulation of tight junction assembly (GO:2000810)4.63842179
75cartilage morphogenesis (GO:0060536)4.51428746
76microtubule severing (GO:0051013)4.51402548
77seminiferous tubule development (GO:0072520)4.49906188
78negative regulation of telomerase activity (GO:0051974)4.49853627
79galactose metabolic process (GO:0006012)4.48097067
80ether metabolic process (GO:0018904)4.44557775
81ribosome biogenesis (GO:0042254)4.37441838
82protein-cofactor linkage (GO:0018065)4.35446883
83folic acid metabolic process (GO:0046655)4.34245518
84protein-chromophore linkage (GO:0018298)4.30548756
85pteridine-containing compound metabolic process (GO:0042558)4.27908167
86meiotic nuclear division (GO:0007126)4.27467998
87regulation of sequestering of triglyceride (GO:0010889)4.27424500
88response to vitamin A (GO:0033189)4.24955838
89energy homeostasis (GO:0097009)4.22772982
90sulfur amino acid biosynthetic process (GO:0000097)4.22607871
91left/right pattern formation (GO:0060972)4.20201999
92CENP-A containing nucleosome assembly (GO:0034080)4.17911130
93regulation of vitamin metabolic process (GO:0030656)4.13972691
94purine-containing compound salvage (GO:0043101)4.13864864
95meiosis I (GO:0007127)4.07480705
96sexual reproduction (GO:0019953)4.04077757
97negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)4.02974250
98phosphatidylglycerol biosynthetic process (GO:0006655)4.01943941
99tRNA modification (GO:0006400)4.01008626
100single strand break repair (GO:0000012)3.96636522
101primary amino compound metabolic process (GO:1901160)3.95461314
102innervation (GO:0060384)3.90450883
103multicellular organismal development (GO:0007275)3.90449544
104chaperone-mediated protein complex assembly (GO:0051131)3.85760321
105aminoglycoside antibiotic metabolic process (GO:0030647)3.83759969
106chromatin remodeling at centromere (GO:0031055)3.82378978
107sequestering of actin monomers (GO:0042989)3.76603982
108folic acid transport (GO:0015884)3.70250830
109protein K11-linked deubiquitination (GO:0035871)3.68321625
110negative regulation of blood vessel endothelial cell migration (GO:0043537)3.64610913
111COPII vesicle coating (GO:0048208)3.61669361
112behavioral fear response (GO:0001662)3.60612448
113behavioral defense response (GO:0002209)3.60612448
114nucleoside transmembrane transport (GO:1901642)3.60363919
115pathway-restricted SMAD protein phosphorylation (GO:0060389)3.57483045
116meiotic cell cycle (GO:0051321)3.53401630
117response to lipoprotein particle (GO:0055094)3.53297367
118cellular protein complex localization (GO:0034629)3.50709062
119pseudouridine synthesis (GO:0001522)3.47358652
120genitalia morphogenesis (GO:0035112)3.45308193
121monoubiquitinated protein deubiquitination (GO:0035520)3.44538530
122sulfur amino acid metabolic process (GO:0000096)3.41611541
123one-carbon metabolic process (GO:0006730)3.40823953
124microtubule polymerization or depolymerization (GO:0031109)3.38155007
125polyamine metabolic process (GO:0006595)3.36425520
126transcription from mitochondrial promoter (GO:0006390)3.36372523
127DNA replication-independent nucleosome organization (GO:0034724)3.34518347
128DNA replication-independent nucleosome assembly (GO:0006336)3.34518347
129regulation of endothelial cell differentiation (GO:0045601)3.34315546
130cardiac epithelial to mesenchymal transition (GO:0060317)3.33860812
131serine family amino acid catabolic process (GO:0009071)3.31219595
132regulation of spindle checkpoint (GO:0090231)3.31004857
133mitochondrial respiratory chain complex I assembly (GO:0032981)3.30410142
134NADH dehydrogenase complex assembly (GO:0010257)3.30410142
135mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.30410142
136glycoside metabolic process (GO:0016137)3.28623773
137DNA ligation (GO:0006266)3.27442962
138negative regulation of alcohol biosynthetic process (GO:1902931)3.23731439
139response to parathyroid hormone (GO:0071107)3.23338796
140protein polyglutamylation (GO:0018095)3.22117740
141regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.19050695
142regulation of DNA biosynthetic process (GO:2000278)3.16929504
143protein localization to cilium (GO:0061512)3.14891155
144regulation of cholesterol storage (GO:0010885)3.14785895
145histone exchange (GO:0043486)3.14550013
146alpha-amino acid biosynthetic process (GO:1901607)3.14238549
147positive regulation of macrophage activation (GO:0043032)3.14092973
148inner mitochondrial membrane organization (GO:0007007)3.10128024
149placenta development (GO:0001890)3.05123027
150nucleoside diphosphate phosphorylation (GO:0006165)3.02983196
151tRNA processing (GO:0008033)3.01823691
152glycolytic process (GO:0006096)2.98749502
153polyol catabolic process (GO:0046174)2.98233759
154interferon-gamma secretion (GO:0072643)2.97740430
155protein refolding (GO:0042026)2.97061202
156alditol metabolic process (GO:0019400)2.96224299
157carnitine transport (GO:0015879)2.89356425
158amino-acid betaine transport (GO:0015838)2.89356425
159RNA localization (GO:0006403)2.87938331
160cilium organization (GO:0044782)2.87627824
161GTP biosynthetic process (GO:0006183)2.87037762
162nucleus organization (GO:0006997)2.86891859
163meiotic cell cycle process (GO:1903046)2.86816540
164microtubule-based movement (GO:0007018)2.80543352
165lactate metabolic process (GO:0006089)2.78889095
166axoneme assembly (GO:0035082)2.78533426
167cilium assembly (GO:0042384)2.77903574
168cellular component assembly involved in morphogenesis (GO:0010927)2.76297375
169centriole assembly (GO:0098534)2.75674685
170carnitine transmembrane transport (GO:1902603)2.72872441
171RNA destabilization (GO:0050779)2.71201929
172synapsis (GO:0007129)2.65498598
173mitotic sister chromatid cohesion (GO:0007064)2.63109310
174cilium morphogenesis (GO:0060271)2.62605469
175UTP biosynthetic process (GO:0006228)2.53032262
176glycerol metabolic process (GO:0006071)2.52615896
177negative regulation of organelle assembly (GO:1902116)2.51889772
178gene silencing by RNA (GO:0031047)2.51623218
179intraciliary transport (GO:0042073)2.50802219
180regulation of cilium assembly (GO:1902017)2.50688241
181polyamine biosynthetic process (GO:0006596)2.41202114
182chromatin silencing (GO:0006342)2.31440686
183fusion of sperm to egg plasma membrane (GO:0007342)13.8451537
184sperm motility (GO:0030317)13.6719803
185cell wall macromolecule catabolic process (GO:0016998)13.6394910
186cell wall macromolecule metabolic process (GO:0044036)13.6394910
187acrosome reaction (GO:0007340)11.9269199
188acrosome assembly (GO:0001675)11.8590149
189sperm-egg recognition (GO:0035036)11.5962968
190homocysteine metabolic process (GO:0050667)11.2409123
191multicellular organism reproduction (GO:0032504)11.1496889
192plasma membrane fusion (GO:0045026)10.5556720
193binding of sperm to zona pellucida (GO:0007339)10.5390163
194axonemal dynein complex assembly (GO:0070286)10.4092949
195cell-cell recognition (GO:0009988)10.3616854

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.28687264
2E2F7_22180533_ChIP-Seq_HELA_Human5.73391692
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.47742985
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.87511699
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.82533034
6EZH2_22144423_ChIP-Seq_EOC_Human3.81137297
7THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.37211544
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.34854973
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.89460917
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.60101393
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.43403811
12MYC_19079543_ChIP-ChIP_MESCs_Mouse2.36801032
13MYC_18555785_ChIP-Seq_MESCs_Mouse2.36316819
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.26701509
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.20119226
16PCGF2_27294783_Chip-Seq_ESCs_Mouse2.20042627
17E2F1_21310950_ChIP-Seq_MCF-7_Human2.11848720
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.08472310
19STAT6_21828071_ChIP-Seq_BEAS2B_Human2.07099352
20ELF1_17652178_ChIP-ChIP_JURKAT_Human2.06880829
21FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.05679084
22GABP_17652178_ChIP-ChIP_JURKAT_Human2.04302998
23AR_21909140_ChIP-Seq_LNCAP_Human2.03817914
24EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.01264981
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse13.0633733
26VDR_22108803_ChIP-Seq_LS180_Human1.97206726
27KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.94835363
28XRN2_22483619_ChIP-Seq_HELA_Human1.93859683
29JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.93596075
30ZNF274_21170338_ChIP-Seq_K562_Hela1.91533557
31GATA1_26923725_Chip-Seq_HPCs_Mouse1.89169832
32MYC_18358816_ChIP-ChIP_MESCs_Mouse1.88030606
33CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.87858406
34CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.86229721
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.80985619
36STAT1_17558387_ChIP-Seq_HELA_Human1.78740869
37CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.77036369
38ZNF263_19887448_ChIP-Seq_K562_Human1.76179809
39MYC_19030024_ChIP-ChIP_MESCs_Mouse1.73672012
40GABP_19822575_ChIP-Seq_HepG2_Human1.73447750
41TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.72128133
42TAL1_26923725_Chip-Seq_HPCs_Mouse1.67304384
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66270467
44RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.66238804
45ELK4_26923725_Chip-Seq_MESODERM_Mouse1.63915673
46MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.61821516
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.60870168
48NFE2_27457419_Chip-Seq_LIVER_Mouse1.60122780
49WDR5_24793694_ChIP-Seq_LNCAP_Human1.58042843
50KAP1_22055183_ChIP-Seq_ESCs_Mouse1.57500212
51KDM2B_26808549_Chip-Seq_REH_Human1.56908438
52MYC_22102868_ChIP-Seq_BL_Human1.56715321
53GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.56693494
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.55362006
55GATA3_21867929_ChIP-Seq_CD8_Mouse1.54177163
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.54137847
57MYCN_18555785_ChIP-Seq_MESCs_Mouse1.53459975
58DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.53321187
59KLF4_18555785_ChIP-Seq_MESCs_Mouse1.51095143
60* TBX5_21415370_ChIP-Seq_HL-1_Mouse1.49317851
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48501234
62* FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45891309
63* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.44491941
64TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.43896170
65* FOXP3_21729870_ChIP-Seq_TREG_Human1.43889498
66HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.40220695
67* REST_21632747_ChIP-Seq_MESCs_Mouse1.39400648
68IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.39364908
69CBP_20019798_ChIP-Seq_JUKART_Human1.39364908
70PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.39224555
71ETS1_20019798_ChIP-Seq_JURKAT_Human1.39051461
72CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.38096838
73YY1_22570637_ChIP-Seq_MALME-3M_Human1.37860367
74LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.36097003
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33934799
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33934799
77TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30387301
78CRX_20693478_ChIP-Seq_RETINA_Mouse1.30361896
79MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29741245
80NANOG_18555785_Chip-Seq_ESCs_Mouse1.27767779
81ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.25661131
82GATA3_21867929_ChIP-Seq_TH1_Mouse1.24687920
83STAT1_20625510_ChIP-Seq_HELA_Human1.24347996
84FLI1_21867929_ChIP-Seq_TH2_Mouse1.23931322
85FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.23897636
86CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.23661182
87BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.23456770
88CTBP2_25329375_ChIP-Seq_LNCAP_Human1.23426634
89SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.23419386
90EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22735527
91GF1_26923725_Chip-Seq_HPCs_Mouse1.22075555
92IRF8_22096565_ChIP-ChIP_GC-B_Human1.22022156
93SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.21992160
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21879424
95OCT4_18555785_Chip-Seq_ESCs_Mouse1.20559686
96SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.20371138
97P68_20966046_ChIP-Seq_HELA_Human1.19786224
98P53_22387025_ChIP-Seq_ESCs_Mouse1.19151950
99PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18460084
100OCT4_21477851_ChIP-Seq_ESCs_Mouse1.17835777
101EZH2_27294783_Chip-Seq_NPCs_Mouse1.17405692
102CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.17374147
103GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.16840073
104* STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.16551490
105RAD21_21589869_ChIP-Seq_MESCs_Mouse1.16233919
106* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.15420139
107* P53_21459846_ChIP-Seq_SAOS-2_Human1.14201680
108CMYC_18555785_Chip-Seq_ESCs_Mouse1.13523075
109HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.12110764
110RNF2_27304074_Chip-Seq_NSC_Mouse1.12008059
111MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11112979
112PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.10802415
113CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.10377787
114FOXM1_23109430_ChIP-Seq_U2OS_Human1.10208849
115KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.10142823
116KLF4_18555785_Chip-Seq_ESCs_Mouse1.09975258
117FLI1_21867929_ChIP-Seq_CD8_Mouse1.09631080
118CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09485710
119P300_18555785_Chip-Seq_ESCs_Mouse1.09449589
120EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.08887160
121PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08786052
122* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.08128540
123VDR_23849224_ChIP-Seq_CD4+_Human1.07771899
124KDM5A_27292631_Chip-Seq_BREAST_Human1.07711378
125FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.06862535
126SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06764271
127ETS1_21867929_ChIP-Seq_TH2_Mouse1.06004277
128EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.04740231
129SUZ12_18555785_Chip-Seq_ESCs_Mouse1.04728123
130CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04550162
131ESRRB_18555785_Chip-Seq_ESCs_Mouse1.03890658
132E2F1_18555785_ChIP-Seq_MESCs_Mouse1.03356785
133SPI1_26923725_Chip-Seq_HPCs_Mouse1.03165793
134PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02909513
135PU1_27457419_Chip-Seq_LIVER_Mouse1.02877080
136ZFX_18555785_ChIP-Seq_MESCs_Mouse1.02757188
137SOX2_18555785_Chip-Seq_ESCs_Mouse1.02264490
138ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.01938837
139* NCOR1_26117541_ChIP-Seq_K562_Human1.00530821
140TP63_19390658_ChIP-ChIP_HaCaT_Human0.99975658
141RUNX1_26923725_Chip-Seq_HPCs_Mouse0.99833323
142TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99663021
143SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99165727
144E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.98685992
145CDX2_22108803_ChIP-Seq_LS180_Human0.98646647
146STAT3_18555785_Chip-Seq_ESCs_Mouse0.98461378
147SOX9_26525672_Chip-Seq_HEART_Mouse0.97910794
148ERG_20517297_ChIP-Seq_VCAP_Human0.97750082
149RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97361963
150CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97203422
151ESET_19884257_ChIP-Seq_ESCs_Mouse0.96725564
152MYC_27129775_Chip-Seq_CORNEA_Mouse0.95852588
153E2F1_18555785_Chip-Seq_ESCs_Mouse0.95406650
154SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95143430
155NMYC_18555785_Chip-Seq_ESCs_Mouse0.94775959
156RXRA_24833708_ChIP-Seq_LIVER_Mouse0.94650711
157GATA1_19941827_ChIP-Seq_MEL86_Mouse0.93755716
158LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.93134644
159SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.92635210
160HOXB4_20404135_ChIP-ChIP_EML_Mouse0.92569483
161RARA_24833708_ChIP-Seq_LIVER_Mouse0.92557350
162TP53_22127205_ChIP-Seq_IMR90_Human0.92061456
163LXR_22292898_ChIP-Seq_THP-1_Human0.91987739
164CTCF_18555785_Chip-Seq_ESCs_Mouse0.91784255
165* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.91769266
166PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91490819
167OCT1_27270436_Chip-Seq_PROSTATE_Human0.91336192
168PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.91185771
169PU.1_20513432_ChIP-Seq_Bcells_Mouse0.90952025
170JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.90090083
171HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.88549713
172SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.86764641
173E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.86083937
174YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.85845958
175E2F4_17652178_ChIP-ChIP_JURKAT_Human0.84840414
176MAF_26560356_Chip-Seq_TH2_Human0.83775336
177SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.83705817
178TTF2_22483619_ChIP-Seq_HELA_Human0.83232890
179ATF3_27146783_Chip-Seq_COLON_Human0.83021019
180THAP11_20581084_ChIP-Seq_MESCs_Mouse0.81111730
181SOX11_22085726_ChIP-Seq_ESNs_Mouse0.80867527
182PKCTHETA_26484144_Chip-Seq_BREAST_Human0.79612711
183PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.79470678
184POU5F1_16153702_ChIP-ChIP_HESCs_Human0.79169065
185P300_27268052_Chip-Seq_Bcells_Human0.78814464
186CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.78225457
187CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.78147966
188BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.77993605
189GATA1_22383799_ChIP-Seq_G1ME_Mouse0.76403942
190TP53_22573176_ChIP-Seq_HFKS_Human0.75618094
191EST1_17652178_ChIP-ChIP_JURKAT_Human0.75581124
192STAT3_1855785_ChIP-Seq_MESCs_Mouse0.75490424
193KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.74707054
194KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.74707054
195KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.74707054

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive6.07918746
2MP0003705_abnormal_hypodermis_morpholog5.91492540
3MP0001929_abnormal_gametogenesis5.53273050
4MP0003183_abnormal_peptide_metabolism4.74963494
5MP0000013_abnormal_adipose_tissue4.17243421
6MP0008877_abnormal_DNA_methylation3.92515305
7MP0002210_abnormal_sex_determination3.39939946
8MP0002161_abnormal_fertility/fecundity3.29507058
9MP0004185_abnormal_adipocyte_glucose3.17073750
10MP0002396_abnormal_hematopoietic_system3.04542591
11MP0001145_abnormal_male_reproductive2.84689976
12MP0005670_abnormal_white_adipose2.73840181
13MP0002938_white_spotting2.68713797
14MP0004885_abnormal_endolymph2.68689797
15MP0003724_increased_susceptibility_to2.52104643
16MP0000653_abnormal_sex_gland2.46722160
17MP0002653_abnormal_ependyma_morphology2.20265025
18MP0002095_abnormal_skin_pigmentation2.08156467
19MP0004147_increased_porphyrin_level2.05181594
20MP0003806_abnormal_nucleotide_metabolis2.01092228
21MP0000003_abnormal_adipose_tissue2.00751427
22MP0005410_abnormal_fertilization16.3656893
23MP0005367_renal/urinary_system_phenotyp1.95863601
24MP0000516_abnormal_urinary_system1.95863601
25MP0005332_abnormal_amino_acid1.90799658
26MP0004130_abnormal_muscle_cell1.69055587
27MP0003646_muscle_fatigue1.68234375
28MP0000678_abnormal_parathyroid_gland1.65386293
29MP0003186_abnormal_redox_activity1.65383169
30MP0002160_abnormal_reproductive_system1.60500484
31MP0004233_abnormal_muscle_weight1.47877580
32MP0005076_abnormal_cell_differentiation1.38789219
33MP0000371_diluted_coat_color1.36520187
34MP0002138_abnormal_hepatobiliary_system1.35869684
35MP0001944_abnormal_pancreas_morphology1.27077741
36MP0001270_distended_abdomen1.25434762
37MP0002282_abnormal_trachea_morphology1.24918460
38MP0000631_abnormal_neuroendocrine_gland1.20348368
39MP0005623_abnormal_meninges_morphology1.20106444
40MP0008872_abnormal_physiological_respon1.18593465
41MP0005647_abnormal_sex_gland1.11241191
42MP0001851_eye_inflammation1.06611313
43MP0004043_abnormal_pH_regulation1.06440751
44MP0004134_abnormal_chest_morphology1.05137825
45MP0000647_abnormal_sebaceous_gland1.03780021
46MP0008058_abnormal_DNA_repair1.02912953
47MP0008995_early_reproductive_senescence1.02549403
48MP0005257_abnormal_intraocular_pressure1.01082683
49MP0001765_abnormal_ion_homeostasis1.00837036
50MP0002234_abnormal_pharynx_morphology0.99894120
51MP0001984_abnormal_olfaction0.98221254
52MP0005389_reproductive_system_phenotype0.98095357
53MP0002009_preneoplasia0.93266611
54MP0003011_delayed_dark_adaptation0.91240809
55MP0000762_abnormal_tongue_morphology0.90634072
56MP0000747_muscle_weakness0.87341690
57MP0009046_muscle_twitch0.84884415
58MP0001340_abnormal_eyelid_morphology0.84015356
59MP0002075_abnormal_coat/hair_pigmentati0.78967795
60MP0005376_homeostasis/metabolism_phenot0.78535617
61MP0009643_abnormal_urine_homeostasis0.78243900
62MP0002069_abnormal_eating/drinking_beha0.78116592
63MP0002078_abnormal_glucose_homeostasis0.76012928
64MP0003693_abnormal_embryo_hatching0.74028307
65MP0004742_abnormal_vestibular_system0.71939341
66MP0002697_abnormal_eye_size0.71740151
67MP0005164_abnormal_response_to0.70701729
68MP0003115_abnormal_respiratory_system0.68970983
69MP0001756_abnormal_urination0.68652923
70MP0005375_adipose_tissue_phenotype0.68625535
71MP0004133_heterotaxia0.65726805
72MP0003077_abnormal_cell_cycle0.64256882
73MP0004036_abnormal_muscle_relaxation0.62918368
74MP0009250_abnormal_appendicular_skeleto0.62280583
75MP0003890_abnormal_embryonic-extraembry0.61872401
76MP0001963_abnormal_hearing_physiology0.60888305
77MP0000750_abnormal_muscle_regeneration0.59568788
78MP0002184_abnormal_innervation0.59388291
79MP0001502_abnormal_circadian_rhythm0.59383544
80MP0000733_abnormal_muscle_development0.59293059
81MP0000703_abnormal_thymus_morphology0.59236600
82MP0010094_abnormal_chromosome_stability0.58820510
83MP0001186_pigmentation_phenotype0.58745021
84MP0002249_abnormal_larynx_morphology0.57249583
85MP0000569_abnormal_digit_pigmentation0.56328288
86MP0005220_abnormal_exocrine_pancreas0.55791242
87MP0005377_hearing/vestibular/ear_phenot0.55664092
88MP0003878_abnormal_ear_physiology0.55664092
89MP0005334_abnormal_fat_pad0.55445670
90MP0003936_abnormal_reproductive_system0.55196538
91MP0005075_abnormal_melanosome_morpholog0.54802885
92MP0009278_abnormal_bone_marrow0.54458413
93MP0005636_abnormal_mineral_homeostasis0.53566623
94MP0001324_abnormal_eye_pigmentation0.53321895
95MP0003045_fibrosis0.53016266
96MP0002295_abnormal_pulmonary_circulatio0.51241474
97MP0002736_abnormal_nociception_after0.50705139
98MP0002837_dystrophic_cardiac_calcinosis0.50390865
99MP0000627_abnormal_mammary_gland0.49785619
100MP0003699_abnormal_female_reproductive0.48977323
101MP0003111_abnormal_nucleus_morphology0.48964751
102MP0002928_abnormal_bile_duct0.48832060
103MP0002163_abnormal_gland_morphology0.48598966
104MP0005253_abnormal_eye_physiology0.48129664
105MP0005551_abnormal_eye_electrophysiolog0.47409655
106MP0005319_abnormal_enzyme/_coenzyme0.46348984
107MP0009697_abnormal_copulation0.46226550
108MP0001764_abnormal_homeostasis0.44986402
109MP0003935_abnormal_craniofacial_develop0.44818796
110MP0002735_abnormal_chemical_nociception0.44798655
111MP0005085_abnormal_gallbladder_physiolo0.44135188
112MP0005666_abnormal_adipose_tissue0.42076023
113MP0000598_abnormal_liver_morphology0.41670745
114MP0003329_amyloid_beta_deposits0.41379108
115MP0006036_abnormal_mitochondrial_physio0.40128851
116MP0001293_anophthalmia0.39351442
117MP0000358_abnormal_cell_content/0.38297202
118MP0001545_abnormal_hematopoietic_system0.37999462
119MP0005397_hematopoietic_system_phenotyp0.37999462
120MP0001440_abnormal_grooming_behavior0.37803115
121MP0002269_muscular_atrophy0.36934141
122MP0001119_abnormal_female_reproductive0.34649660
123MP0002139_abnormal_hepatobiliary_system0.34461922
124MP0001348_abnormal_lacrimal_gland0.34367308
125MP0005646_abnormal_pituitary_gland0.33791426
126MP0002102_abnormal_ear_morphology0.32734374
127MP0003950_abnormal_plasma_membrane0.32409050
128MP0005391_vision/eye_phenotype0.32060981
129MP0002876_abnormal_thyroid_physiology0.30917068
130MP0009115_abnormal_fat_cell0.30529602
131MP0004019_abnormal_vitamin_homeostasis0.30183488
132MP0005535_abnormal_body_temperature0.29698266
133MP0001968_abnormal_touch/_nociception0.29237457
134MP0001727_abnormal_embryo_implantation0.28663880
135MP0003861_abnormal_nervous_system0.26825593
136MP0001661_extended_life_span0.26552527
137MP0001919_abnormal_reproductive_system0.26101911
138MP0002152_abnormal_brain_morphology0.26044204
139MP0003633_abnormal_nervous_system0.24745618
140MP0002132_abnormal_respiratory_system0.24112987
141MP0004811_abnormal_neuron_physiology0.24087047
142MP0008057_abnormal_DNA_replication0.23117176
143MP0005360_urolithiasis0.22168428
144MP0003786_premature_aging0.21843663
145MP0003631_nervous_system_phenotype0.21055564
146MP0002971_abnormal_brown_adipose0.20739519
147MP0002557_abnormal_social/conspecific_i0.20261153
148MP0000604_amyloidosis0.20133985
149MP0002169_no_abnormal_phenotype0.19655143
150MP0002873_normal_phenotype0.19386091
151MP0005365_abnormal_bile_salt0.19082441
152MP0005423_abnormal_somatic_nervous0.18847405
153MP0000534_abnormal_ureter_morphology0.18431801
154MP0003959_abnormal_lean_body0.17077138
155MP0003252_abnormal_bile_duct0.16990162
156MP0002572_abnormal_emotion/affect_behav0.14455505
157MP0002734_abnormal_mechanical_nocicepti0.14146790
158MP0000026_abnormal_inner_ear0.14010659
159MP0002752_abnormal_somatic_nervous0.13852036
160MP0005379_endocrine/exocrine_gland_phen0.13649636
161MP0003942_abnormal_urinary_system0.13351225
162MP0002092_abnormal_eye_morphology0.13261527
163MP0000462_abnormal_digestive_system0.13147256
164MP0001986_abnormal_taste_sensitivity0.13057144
165MP0000955_abnormal_spinal_cord0.12621502

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.82827165
2Abnormality of alanine metabolism (HP:0010916)9.38021285
3Hyperalaninemia (HP:0003348)9.38021285
4Abnormality of pyruvate family amino acid metabolism (HP:0010915)9.38021285
5Abnormal respiratory epithelium morphology (HP:0012253)9.37561654
6Abnormal respiratory motile cilium morphology (HP:0005938)9.37561654
7Abnormal ciliary motility (HP:0012262)8.20189830
8Rhinitis (HP:0012384)7.38298213
9Chronic bronchitis (HP:0004469)7.23310494
10Infertility (HP:0000789)7.03711057
11Nasal polyposis (HP:0100582)6.16886868
12Spontaneous hematomas (HP:0007420)5.84231370
13Esophageal varix (HP:0002040)5.69181640
14Congenital sensorineural hearing impairment (HP:0008527)5.35266041
15Abnormality of the nasal mucosa (HP:0000433)5.04531327
16Single umbilical artery (HP:0001195)4.80206725
17Abnormality of the fetal cardiovascular system (HP:0010948)4.80206725
18Abnormal umbilical cord blood vessels (HP:0011403)4.80206725
19Birth length less than 3rd percentile (HP:0003561)4.75297362
20Homocystinuria (HP:0002156)4.73478087
21Abnormality of homocysteine metabolism (HP:0010919)4.73478087
22White forelock (HP:0002211)4.66669347
23Bronchiectasis (HP:0002110)4.51474082
24Bronchitis (HP:0012387)4.32308148
25Male infertility (HP:0003251)4.24112361
26Patchy hypopigmentation of hair (HP:0011365)4.22354449
27Anorexia (HP:0002039)4.02726750
28Nephronophthisis (HP:0000090)3.90925187
29Myocardial infarction (HP:0001658)3.90853835
30Fatigue (HP:0012378)3.89169486
31Conjunctival telangiectasia (HP:0000524)3.83101565
32Abnormality of serum amino acid levels (HP:0003112)3.73827719
33Action tremor (HP:0002345)3.66872643
34Abnormal spermatogenesis (HP:0008669)3.64251819
35Conjugated hyperbilirubinemia (HP:0002908)3.59428578
36Recurrent sinusitis (HP:0011108)3.49591115
37Poor speech (HP:0002465)3.42135264
38Abnormality of sulfur amino acid metabolism (HP:0004339)3.25416791
39Oligomenorrhea (HP:0000876)3.24150846
40Generalized aminoaciduria (HP:0002909)3.14875364
41Recurrent otitis media (HP:0000403)3.12984185
42Maternal diabetes (HP:0009800)2.98770915
43Hypoalphalipoproteinemia (HP:0003233)2.97197763
44Abnormality of the renal medulla (HP:0100957)2.97010327
45Heterochromia iridis (HP:0001100)2.96921633
46Abnormality of the vasculature of the conjunctiva (HP:0008054)2.94595885
47Abnormality of the umbilical cord (HP:0010881)2.92952514
48Pulmonary embolism (HP:0002204)2.90708809
49Tubulointerstitial nephritis (HP:0001970)2.90451116
50Reduced subcutaneous adipose tissue (HP:0003758)2.88002948
51Myopathic facies (HP:0002058)2.85819820
52Chromosomal breakage induced by crosslinking agents (HP:0003221)2.79987040
53Chronic hepatic failure (HP:0100626)2.76844061
54Ileus (HP:0002595)2.70154867
55Biconcave vertebral bodies (HP:0004586)2.68600209
56Decreased subcutaneous fat (HP:0001002)2.65945658
57Visceral angiomatosis (HP:0100761)2.60564628
58Reticulocytopenia (HP:0001896)2.57815503
59Toxemia of pregnancy (HP:0100603)2.57457458
60Azoospermia (HP:0000027)2.56869567
61Chronic otitis media (HP:0000389)2.54444594
62Arteriovenous malformation (HP:0100026)2.54003966
63Cortical visual impairment (HP:0100704)2.51719756
64Chromsome breakage (HP:0040012)2.44070000
65Hypoplastic left heart (HP:0004383)2.43711566
66Hemangiomatosis (HP:0007461)2.42856280
67Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.41552911
68Molar tooth sign on MRI (HP:0002419)2.38974337
69Abnormality of midbrain morphology (HP:0002418)2.38974337
70Recurrent bronchitis (HP:0002837)2.38306583
71Hyperglycinemia (HP:0002154)2.34501497
72Tubulointerstitial abnormality (HP:0001969)2.32925008
73Abnormality of the phalanges of the hallux (HP:0010057)2.31927635
74Medial flaring of the eyebrow (HP:0010747)2.31914966
75Attenuation of retinal blood vessels (HP:0007843)2.31896477
76Tubular atrophy (HP:0000092)2.31285796
77Complete atrioventricular canal defect (HP:0001674)2.30997192
78Impulsivity (HP:0100710)2.30872247
79Dyschromatopsia (HP:0007641)2.26386546
80Gonadotropin excess (HP:0000837)2.25166606
81Cavernous hemangioma (HP:0001048)2.21704652
82Pendular nystagmus (HP:0012043)2.21415698
83Thrombophlebitis (HP:0004418)2.21284729
84Cone-rod dystrophy (HP:0000548)2.19952303
85Cholecystitis (HP:0001082)2.14915983
86Abnormal gallbladder physiology (HP:0012438)2.14915983
87Chorioretinal atrophy (HP:0000533)2.14531516
88Pigmentary retinal degeneration (HP:0001146)2.13696438
89Nausea (HP:0002018)2.09377513
90Insulin-resistant diabetes mellitus (HP:0000831)2.08684046
91Abnormality of DNA repair (HP:0003254)2.06855015
92Aplasia/Hypoplasia of the sacrum (HP:0008517)2.01172872
93Hyperphosphaturia (HP:0003109)2.00005733
94Dynein arm defect of respiratory motile cilia (HP:0012255)13.6248165
95Absent/shortened dynein arms (HP:0200106)13.6248165
96Respiratory insufficiency due to defective ciliary clearance (HP:0200073)12.9682397
97Abnormality of subcutaneous fat tissue (HP:0001001)1.99690888
98Hypopigmentation of the fundus (HP:0007894)1.99141656
99Microcytic anemia (HP:0001935)1.96249243
100Duplicated collecting system (HP:0000081)1.95616541
101Hypoplasia of the capital femoral epiphysis (HP:0003090)1.95097456
102Abnormality of cochlea (HP:0000375)1.94813065
103Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.94623207
104Postaxial foot polydactyly (HP:0001830)1.94481804
105Abnormality of the renal collecting system (HP:0004742)1.91242356
106Pallor (HP:0000980)1.90008652
107Portal hypertension (HP:0001409)1.88857530
108Metabolic acidosis (HP:0001942)1.88368857
109Increased purine levels (HP:0004368)1.87787592
110Hyperuricemia (HP:0002149)1.87787592
111Progressive external ophthalmoplegia (HP:0000590)1.87355734
112Abnormality of the carotid arteries (HP:0005344)1.87200959
113Decreased central vision (HP:0007663)1.85519472
114Bone marrow hypocellularity (HP:0005528)1.84045293
115Diaphragmatic weakness (HP:0009113)1.83600091
116Arterial thrombosis (HP:0004420)1.82233285
117Hypoplastic heart (HP:0001961)1.80468375
118Choroideremia (HP:0001139)1.80057928
119Stage 5 chronic kidney disease (HP:0003774)1.75582465
120Clonus (HP:0002169)1.75416276
121Abnormality of the tricuspid valve (HP:0001702)1.74893189
122Tubulointerstitial fibrosis (HP:0005576)1.74726064
123Small for gestational age (HP:0001518)1.74159877
124Congenital hepatic fibrosis (HP:0002612)1.74007374
125Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.73504347
126Impaired vibration sensation in the lower limbs (HP:0002166)1.72995350
127Hemorrhage of the eye (HP:0011885)1.72837384
128Abnormality of the hepatic vasculature (HP:0006707)1.72576635
129Symptomatic seizures (HP:0011145)1.72448370
130Heterotopia (HP:0002282)1.71503648
131Facial cleft (HP:0002006)1.71484416
132Duplication of thumb phalanx (HP:0009942)1.71305334
133Megaloblastic anemia (HP:0001889)1.69024389
134Brittle hair (HP:0002299)1.68867289
135Leukopenia (HP:0001882)1.67822014
136Atrioventricular canal defect (HP:0006695)1.66814456
137Abnormal urine phosphate concentration (HP:0012599)1.66315727
138Spastic tetraparesis (HP:0001285)1.66067623
139Elevated alkaline phosphatase (HP:0003155)1.65857510
140Hypoparathyroidism (HP:0000829)1.65769504
141Bell-shaped thorax (HP:0001591)1.65429849
142Abnormalities of placenta or umbilical cord (HP:0001194)1.64971948
143Peritonitis (HP:0002586)1.61692919
144Abnormal drinking behavior (HP:0030082)1.59636440
145Polydipsia (HP:0001959)1.59636440
146Abnormality of the renal cortex (HP:0011035)1.58370479
147Asymmetric septal hypertrophy (HP:0001670)1.55428787
148Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.52276671
149Absent epiphyses (HP:0010577)1.52276671
150Abnormality of renal excretion (HP:0011036)1.52026899
151Abnormality of permanent molar morphology (HP:0011071)1.51063723
152Abnormality of the dental root (HP:0006486)1.51063723
153Taurodontia (HP:0000679)1.51063723
154Postaxial hand polydactyly (HP:0001162)1.46234265
155Aplasia/Hypoplasia of the lens (HP:0008063)1.46037206
156Short thorax (HP:0010306)1.45357216
157Hemiparesis (HP:0001269)1.45252762
158Abnormality of molar (HP:0011077)1.44817338
159Abnormality of molar morphology (HP:0011070)1.44817338
160Bile duct proliferation (HP:0001408)1.44019055
161Abnormal biliary tract physiology (HP:0012439)1.44019055
162Fibular hypoplasia (HP:0003038)1.43833061
163Chronic sinusitis (HP:0011109)1.40956240
164Abnormality of the dental pulp (HP:0006479)1.39364080
165Decreased electroretinogram (ERG) amplitude (HP:0000654)1.38699709
166Oculomotor apraxia (HP:0000657)1.38244248
167Congenital malformation of the right heart (HP:0011723)1.37863906
168Double outlet right ventricle (HP:0001719)1.37863906
169Microglossia (HP:0000171)1.36944748
170Constricted visual fields (HP:0001133)1.34323994
171Short ribs (HP:0000773)1.33914963
172Median cleft lip (HP:0000161)1.33252679
173Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.31464416
174Neurofibrillary tangles (HP:0002185)1.31075661
175Renal dysplasia (HP:0000110)1.31040492
176Abnormality of dentin (HP:0010299)1.30144413
177Gait imbalance (HP:0002141)1.28794785
178Impaired proprioception (HP:0010831)1.28678959
179Congenital primary aphakia (HP:0007707)1.28248829
180Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.27925021
181Sensory axonal neuropathy (HP:0003390)1.24458785
182Nephropathy (HP:0000112)1.24248794
183Cystic liver disease (HP:0006706)1.22740799
184Cerebellar dysplasia (HP:0007033)1.21696804
185Rhizomelia (HP:0008905)1.19751479
186Broad distal phalanx of finger (HP:0009836)1.19086735
187Abnormality of the lower motor neuron (HP:0002366)1.18892969
188Bundle branch block (HP:0011710)1.18736227
189Abnormal urine output (HP:0012590)1.18670898
190Aplasia/Hypoplasia of the tongue (HP:0010295)1.17880446
191Short femoral neck (HP:0100864)1.17525269
192Easy fatigability (HP:0003388)1.16992953
193Vascular calcification (HP:0004934)1.16762435
194Abnormality of the neuromuscular junction (HP:0003398)1.15116058
195Fatigable weakness (HP:0003473)1.15116058
196Deformed sella turcica (HP:0002681)1.12367192
197Supernumerary spleens (HP:0009799)1.11519879
198Optic nerve hypoplasia (HP:0000609)1.10871414

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK38.44073899
2PDK48.44073899
3MAP2K36.63000673
4MAP3K36.27535216
5TESK15.92586800
6PDK25.49198006
7PRKD34.61292536
8ICK4.36032762
9FGR4.10948888
10JAK33.99965896
11CDK93.89974433
12ACVR1B3.55271021
13RPS6KB23.43040030
14SGK2233.01497551
15SGK4943.01497551
16SGK22.59282880
17EPHB22.37547185
18MAP4K12.19932185
19NTRK32.13921179
20PTK2B2.08282271
21SGK32.07966255
22WNK41.96616802
23STK391.95300645
24NEK21.71387850
25STK381.61993179
26PNCK1.59958251
27MAP3K111.50382070
28DYRK1B1.37823027
29MAP2K11.36247195
30NME21.28715359
31PDK11.22736716
32ADRBK11.10169148
33CDK71.04634703
34SGK10.99714370
35CAMK10.98040803
36DYRK30.97953127
37PINK10.91823961
38CSNK1A10.81711755
39CCNB10.81250859
40PDPK10.75844663
41IRAK40.75198670
42TYRO30.73307839
43PTK60.72827332
44UHMK10.71833301
45IRAK10.71344121
46TLK10.71168503
47BRSK10.71066536
48STK30.67491880
49WNK10.66083485
50MAPK150.65469742
51RIPK40.65304970
52BRD40.65199093
53TTK0.64541696
54PASK0.61745166
55DYRK20.60838322
56TESK20.60755696
57LMTK20.60266117
58CHEK20.60023709
59MAP2K60.58333169
60PRKCI0.57922456
61JAK20.52919961
62MUSK0.52150342
63TAF10.51177283
64PHKG20.49749412
65PHKG10.49749412
66EEF2K0.49452308
67CAMK1G0.46285792
68CDC70.44600907
69CAMK2B0.43096635
70CDK20.42449010
71PAK10.40272394
72INSR0.39510590
73ATR0.39025028
74CHEK10.37964022
75IRAK20.36903437
76MAP3K90.35597176
77CDK40.35560268
78AURKB0.35440980
79SIK10.34309960
80CAMK2D0.34153470
81PRKD20.33822453
82PLK40.33704898
83PKN20.33568899
84NTRK20.33429085
85MAP3K60.33309228
86CSNK2A20.33038962
87CAMK2G0.32477276
88GRK60.30725503
89MAP3K70.29858807
90CAMK1D0.28815984
91PRKCG0.28309938
92MAP3K100.28046267
93CAMKK10.27157161
94MAP3K10.26728564
95AKT20.25694025
96TRIB30.25025042
97PLK10.24975666
98CDK50.24945464
99CDK190.24776780
100PIM10.23858336
101PAK20.23802963
102BRSK20.23712987
103ERBB40.23608331
104MARK20.23597176
105MAP2K70.22996414
106MAP3K40.21941484
107SMG10.21870154
108STK110.21811786
109PRKAA10.21638370
110AKT10.21450101
111MAPKAPK50.21248320
112ATM0.20996334
113MAPK140.20156074
114RPS6KA60.20099399
115RPS6KA30.19830356
116TBK10.19449164
117PRKD10.19431191
118YES10.19270357
119PKN10.19051135
120IKBKB0.18939883
121STK38L0.17855939
122STK100.17816771
123MTOR0.17714397
124BTK0.17410110
125TNK20.16036186
126NEK60.15320622
127PRKG20.15109481
128MARK30.15069384
129PRKCZ0.13086711
130CDK150.12991110
131RPS6KA10.12985295
132MAP3K50.12190282
133WNK30.12136500
134CDC42BPA0.11752485
135CDK180.11435654
136WEE10.10892956
137PRKCQ0.10116925
138AURKA0.09995721
139MELK0.09799899
140RPS6KB10.09673787
141BRAF0.09538908
142PAK40.09053112
143CAMK2A0.08899763
144PRKCD0.08801268
145CDK11A0.08230364
146PRKG10.07931539
147BCR0.07123469
148DAPK20.06862214
149PRKACG0.06574205
150CSNK2A10.05480245
151PBK0.04913447
152CDK140.04180583
153GSK3B0.03897206
154CDK120.03724003
155EIF2AK30.03667933
156CDK10.03251712
157CLK10.03192666
158CSNK1D0.02883264
159CSF1R0.02535804
160PRKCA0.02516377
161EIF2AK20.02245353
162PRKCB0.02197578
163PAK6-0.0091524
164MAPK8-0.0065470
165MAP2K4-0.0024775
166EGFR-0.0015787

Predicted pathways (KEGG)

RankGene SetZ-score
1One carbon pool by folate_Homo sapiens_hsa006706.20901445
2Fatty acid biosynthesis_Homo sapiens_hsa000614.49213992
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.34170499
4Vitamin B6 metabolism_Homo sapiens_hsa007503.80797718
5Arginine biosynthesis_Homo sapiens_hsa002203.75915627
6Sulfur relay system_Homo sapiens_hsa041223.62620119
7Pyruvate metabolism_Homo sapiens_hsa006203.41604592
8Maturity onset diabetes of the young_Homo sapiens_hsa049503.31732555
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.24001504
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.17606032
11Propanoate metabolism_Homo sapiens_hsa006403.16134146
12Linoleic acid metabolism_Homo sapiens_hsa005913.08410020
13Glucagon signaling pathway_Homo sapiens_hsa049222.70641357
14Galactose metabolism_Homo sapiens_hsa000522.70328006
15Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.44031027
16Morphine addiction_Homo sapiens_hsa050322.30409192
17Glycerolipid metabolism_Homo sapiens_hsa005612.28920697
18GABAergic synapse_Homo sapiens_hsa047272.22633099
19Selenocompound metabolism_Homo sapiens_hsa004502.21020357
20Basal transcription factors_Homo sapiens_hsa030222.20121022
21Carbohydrate digestion and absorption_Homo sapiens_hsa049732.17839481
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.17828649
23Glycosaminoglycan degradation_Homo sapiens_hsa005312.03251321
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.92004465
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.88405816
26PPAR signaling pathway_Homo sapiens_hsa033201.86613864
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.86289617
28Ribosome_Homo sapiens_hsa030101.85227484
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.83232258
30Nicotine addiction_Homo sapiens_hsa050331.83225509
31Regulation of autophagy_Homo sapiens_hsa041401.80546072
32Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.80435132
33Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.74102747
34Oocyte meiosis_Homo sapiens_hsa041141.72623555
35Pentose phosphate pathway_Homo sapiens_hsa000301.69432765
36Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.69000019
37Glycerophospholipid metabolism_Homo sapiens_hsa005641.67509591
38Fanconi anemia pathway_Homo sapiens_hsa034601.64287422
39Ether lipid metabolism_Homo sapiens_hsa005651.62335829
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.58708425
41Mineral absorption_Homo sapiens_hsa049781.55098368
42Amphetamine addiction_Homo sapiens_hsa050311.46406699
43Fructose and mannose metabolism_Homo sapiens_hsa000511.45405557
44Thyroid cancer_Homo sapiens_hsa052161.45033725
45Fatty acid degradation_Homo sapiens_hsa000711.43505063
46Fatty acid metabolism_Homo sapiens_hsa012121.40397896
47Vitamin digestion and absorption_Homo sapiens_hsa049771.38849771
48Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.36086194
49Fat digestion and absorption_Homo sapiens_hsa049751.35828860
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.35313494
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.28622354
52Cardiac muscle contraction_Homo sapiens_hsa042601.25255734
53Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.25254185
54Dorso-ventral axis formation_Homo sapiens_hsa043201.23945822
55Folate biosynthesis_Homo sapiens_hsa007901.21838476
56Carbon metabolism_Homo sapiens_hsa012001.19480931
57Base excision repair_Homo sapiens_hsa034101.19175003
58Spliceosome_Homo sapiens_hsa030401.18189794
59DNA replication_Homo sapiens_hsa030301.17617149
60Other glycan degradation_Homo sapiens_hsa005111.14137065
61Renin secretion_Homo sapiens_hsa049241.13448121
62Serotonergic synapse_Homo sapiens_hsa047261.04131492
63Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.02538201
64Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95226591
65Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.93719527
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.92116931
67Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.90551255
68Purine metabolism_Homo sapiens_hsa002300.89377354
69Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.89372786
70mRNA surveillance pathway_Homo sapiens_hsa030150.89085121
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.88224281
72Antigen processing and presentation_Homo sapiens_hsa046120.87940602
73Huntingtons disease_Homo sapiens_hsa050160.86931130
74Hedgehog signaling pathway_Homo sapiens_hsa043400.86574060
75Glutathione metabolism_Homo sapiens_hsa004800.86429353
76Biosynthesis of amino acids_Homo sapiens_hsa012300.85615459
77RNA degradation_Homo sapiens_hsa030180.83617301
78Insulin secretion_Homo sapiens_hsa049110.81665191
79SNARE interactions in vesicular transport_Homo sapiens_hsa041300.81407547
80Dopaminergic synapse_Homo sapiens_hsa047280.80925291
81Chemical carcinogenesis_Homo sapiens_hsa052040.80664103
82Arachidonic acid metabolism_Homo sapiens_hsa005900.77418909
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76851350
84Cholinergic synapse_Homo sapiens_hsa047250.75604721
85Arginine and proline metabolism_Homo sapiens_hsa003300.75203508
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.74119875
87Adipocytokine signaling pathway_Homo sapiens_hsa049200.73780326
88Inositol phosphate metabolism_Homo sapiens_hsa005620.71206531
89Bile secretion_Homo sapiens_hsa049760.71155361
90Homologous recombination_Homo sapiens_hsa034400.70560298
91RNA transport_Homo sapiens_hsa030130.69058926
92Butanoate metabolism_Homo sapiens_hsa006500.66561268
93Proteasome_Homo sapiens_hsa030500.65594218
94Salivary secretion_Homo sapiens_hsa049700.64446175
95Thyroid hormone synthesis_Homo sapiens_hsa049180.62894185
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62848654
97Nitrogen metabolism_Homo sapiens_hsa009100.62796324
98Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62549069
99Long-term potentiation_Homo sapiens_hsa047200.62071756
100cGMP-PKG signaling pathway_Homo sapiens_hsa040220.62011339
101Nucleotide excision repair_Homo sapiens_hsa034200.61838309
102Retinol metabolism_Homo sapiens_hsa008300.61701791
103Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.60543471
104Estrogen signaling pathway_Homo sapiens_hsa049150.58866985
105ABC transporters_Homo sapiens_hsa020100.58841797
106Phosphatidylinositol signaling system_Homo sapiens_hsa040700.58165045
107Calcium signaling pathway_Homo sapiens_hsa040200.56487971
108Peroxisome_Homo sapiens_hsa041460.56286352
109Mismatch repair_Homo sapiens_hsa034300.55633377
110Protein digestion and absorption_Homo sapiens_hsa049740.54777105
111* Oxidative phosphorylation_Homo sapiens_hsa001900.53324792
112Systemic lupus erythematosus_Homo sapiens_hsa053220.53056796
113Pancreatic secretion_Homo sapiens_hsa049720.52739000
114Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.51386185
115Legionellosis_Homo sapiens_hsa051340.50889903
116Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48176998
117Central carbon metabolism in cancer_Homo sapiens_hsa052300.47296245
118Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.45685910
119Endocytosis_Homo sapiens_hsa041440.38766585
120Vascular smooth muscle contraction_Homo sapiens_hsa042700.38437251
121Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.38376289
122Ras signaling pathway_Homo sapiens_hsa040140.37880144
123* Metabolic pathways_Homo sapiens_hsa011000.36780897
124AMPK signaling pathway_Homo sapiens_hsa041520.36412780
125Parkinsons disease_Homo sapiens_hsa050120.36009015
126Renin-angiotensin system_Homo sapiens_hsa046140.35698718
127Pentose and glucuronate interconversions_Homo sapiens_hsa000400.31804910
128Taste transduction_Homo sapiens_hsa047420.31321790
129Circadian entrainment_Homo sapiens_hsa047130.30449607
130VEGF signaling pathway_Homo sapiens_hsa043700.29998237
131Alzheimers disease_Homo sapiens_hsa050100.29692140
132Gastric acid secretion_Homo sapiens_hsa049710.29459494
133cAMP signaling pathway_Homo sapiens_hsa040240.28542973
134NOD-like receptor signaling pathway_Homo sapiens_hsa046210.26837155
135Salmonella infection_Homo sapiens_hsa051320.26439954
136Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.26147503
137HIF-1 signaling pathway_Homo sapiens_hsa040660.25732508
138Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.25678856
139Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.25479308
140Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24608634
141Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.24301184
142Phenylalanine metabolism_Homo sapiens_hsa003600.21338403
143Chemokine signaling pathway_Homo sapiens_hsa040620.20880099
144Glutamatergic synapse_Homo sapiens_hsa047240.18547024
145Cocaine addiction_Homo sapiens_hsa050300.18225445
146Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17514250
147Alcoholism_Homo sapiens_hsa050340.17052616
148Olfactory transduction_Homo sapiens_hsa047400.15560344
149Sphingolipid signaling pathway_Homo sapiens_hsa040710.14489719
150Epstein-Barr virus infection_Homo sapiens_hsa051690.13887567
151Viral carcinogenesis_Homo sapiens_hsa052030.13771839
152Wnt signaling pathway_Homo sapiens_hsa043100.13667616
153Sulfur metabolism_Homo sapiens_hsa009200.13388597
154N-Glycan biosynthesis_Homo sapiens_hsa005100.12680375
155B cell receptor signaling pathway_Homo sapiens_hsa046620.12674763
156Steroid hormone biosynthesis_Homo sapiens_hsa001400.12154317
157Non-homologous end-joining_Homo sapiens_hsa034500.11911581
158Cell cycle_Homo sapiens_hsa041100.11784038
159Renal cell carcinoma_Homo sapiens_hsa052110.11571836
160Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.11301176
161Pyrimidine metabolism_Homo sapiens_hsa002400.10480730
162RNA polymerase_Homo sapiens_hsa030200.09311593
163PI3K-Akt signaling pathway_Homo sapiens_hsa041510.08726152
164Non-small cell lung cancer_Homo sapiens_hsa052230.05488772
165Melanoma_Homo sapiens_hsa052180.05193414

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