USP30

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: USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline biosynthetic process (GO:0006561)7.49758260
2axon ensheathment in central nervous system (GO:0032291)6.60033560
3central nervous system myelination (GO:0022010)6.60033560
4proline metabolic process (GO:0006560)5.87392137
5pyrimidine nucleobase catabolic process (GO:0006208)5.76820528
6transcription from mitochondrial promoter (GO:0006390)5.63746407
7oxidative demethylation (GO:0070989)4.99606889
8establishment of apical/basal cell polarity (GO:0035089)4.90239753
9embryonic process involved in female pregnancy (GO:0060136)4.74554313
10nucleobase catabolic process (GO:0046113)4.62552516
11positive regulation of protein homooligomerization (GO:0032464)4.58176963
12establishment of mitochondrion localization (GO:0051654)4.56375565
13negative regulation of JAK-STAT cascade (GO:0046426)4.54916247
14cornea development in camera-type eye (GO:0061303)4.45097601
15replication fork processing (GO:0031297)4.41338829
16ensheathment of neurons (GO:0007272)4.40304356
17axon ensheathment (GO:0008366)4.40304356
18protein localization to endosome (GO:0036010)4.33847494
19asymmetric protein localization (GO:0008105)4.32753800
20myelination (GO:0042552)4.31314123
21positive regulation of mitochondrial fission (GO:0090141)4.25062256
22membrane tubulation (GO:0097320)4.21639317
23regulation of development, heterochronic (GO:0040034)4.17914854
24regulation of protein homooligomerization (GO:0032462)4.15625485
25establishment of monopolar cell polarity (GO:0061162)4.14471349
26establishment or maintenance of monopolar cell polarity (GO:0061339)4.14471349
27regulation of integrin activation (GO:0033623)4.07076133
28neuron cell-cell adhesion (GO:0007158)4.03701433
29regulation of timing of cell differentiation (GO:0048505)3.97363773
30negative regulation of neurotransmitter secretion (GO:0046929)3.95048577
31cellular response to ATP (GO:0071318)3.90509802
32fatty acid elongation (GO:0030497)3.87077437
33limb bud formation (GO:0060174)3.79320230
34poly(A)+ mRNA export from nucleus (GO:0016973)3.79281043
35negative regulation of Ras GTPase activity (GO:0034261)3.76016463
36postsynaptic membrane organization (GO:0001941)3.75194166
37nonmotile primary cilium assembly (GO:0035058)3.74858749
38presynaptic membrane assembly (GO:0097105)3.74837429
39glutamine family amino acid biosynthetic process (GO:0009084)3.67882685
40mitochondrion transport along microtubule (GO:0047497)3.64698672
41establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.64698672
42negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.55360621
43behavioral response to nicotine (GO:0035095)3.55326651
44synaptic vesicle endocytosis (GO:0048488)3.52639332
45neuromuscular process controlling posture (GO:0050884)3.51986257
46presynaptic membrane organization (GO:0097090)3.48478423
47cell migration in hindbrain (GO:0021535)3.41471752
48axonal fasciculation (GO:0007413)3.40765013
49vocalization behavior (GO:0071625)3.40423661
50calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.38318824
51regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.36573316
52protein targeting to lysosome (GO:0006622)3.35707046
53establishment of protein localization to vacuole (GO:0072666)3.35707046
54protein targeting to vacuole (GO:0006623)3.35707046
55microtubule severing (GO:0051013)3.35087220
56mitochondrial DNA metabolic process (GO:0032042)3.35004593
57negative regulation of protein oligomerization (GO:0032460)3.32752482
58labyrinthine layer development (GO:0060711)3.32478418
59regulation of cilium movement (GO:0003352)3.31191357
60apical protein localization (GO:0045176)3.30200756
61gamma-aminobutyric acid transport (GO:0015812)3.29385491
62neural tube formation (GO:0001841)3.27555060
63heme transport (GO:0015886)3.24926378
64negative regulation of neurotransmitter transport (GO:0051589)3.24627257
65convergent extension (GO:0060026)3.23641235
66mitotic G1 DNA damage checkpoint (GO:0031571)3.23224167
67maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.21897396
68regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.21043487
69transmission of nerve impulse (GO:0019226)3.20519618
70positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.20125565
71negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.19809707
72G1 DNA damage checkpoint (GO:0044783)3.18957609
73negative regulation of fatty acid biosynthetic process (GO:0045717)3.18038570
74intraciliary transport (GO:0042073)3.17786285
75embryonic placenta development (GO:0001892)3.17185903
76mitotic G1/S transition checkpoint (GO:0044819)3.15864427
77glycerophospholipid catabolic process (GO:0046475)3.15624188
78synapse assembly (GO:0007416)3.13546782
79lateral sprouting from an epithelium (GO:0060601)3.10685679
80epithelial cilium movement (GO:0003351)3.09692368
81negative regulation of cell cycle arrest (GO:0071157)3.09058213
82forebrain neuron differentiation (GO:0021879)3.08504937
83cilium morphogenesis (GO:0060271)3.05972697
84regulation of cAMP-dependent protein kinase activity (GO:2000479)3.04045459
85positive regulation by host of viral transcription (GO:0043923)3.02454564
86cardiac ventricle formation (GO:0003211)3.01229631
87fatty-acyl-CoA biosynthetic process (GO:0046949)2.99560308
88astrocyte development (GO:0014002)2.98291058
89neuron recognition (GO:0008038)2.96751558
90DNA strand renaturation (GO:0000733)2.96134073
91central nervous system projection neuron axonogenesis (GO:0021952)2.94871703
92DNA deamination (GO:0045006)2.94694171
93iron coordination entity transport (GO:1901678)2.93726690
94glial cell migration (GO:0008347)2.90543098
95negative regulation of GTPase activity (GO:0034260)2.90092521
96negative regulation of GTP catabolic process (GO:0033125)2.90092521
97short-term memory (GO:0007614)2.89930537
98protein polyglutamylation (GO:0018095)2.88503598
99mitotic nuclear envelope reassembly (GO:0007084)2.87830226
100nuclear envelope reassembly (GO:0031468)2.87830226
101regulation of early endosome to late endosome transport (GO:2000641)2.87256953
102somite development (GO:0061053)2.86728989
103positive regulation of dendritic spine morphogenesis (GO:0061003)2.83745818
104regulation of protein kinase A signaling (GO:0010738)2.83610268
105cardiac chamber formation (GO:0003207)2.82866554
106negative regulation of heart rate (GO:0010459)2.82716576
107peroxisome fission (GO:0016559)2.82395914
108positive regulation of developmental pigmentation (GO:0048087)2.82212219
109protein localization to synapse (GO:0035418)2.82124131
110somatic hypermutation of immunoglobulin genes (GO:0016446)2.81174422
111somatic diversification of immune receptors via somatic mutation (GO:0002566)2.81174422
112negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.80945113
113hindbrain development (GO:0030902)2.80899741
114startle response (GO:0001964)2.80208673
115C4-dicarboxylate transport (GO:0015740)2.78061214
116base-excision repair, AP site formation (GO:0006285)2.78003032
117very-low-density lipoprotein particle assembly (GO:0034379)2.77592992
118enteric nervous system development (GO:0048484)2.76869309
119regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.76750937
120regulation of microtubule-based movement (GO:0060632)2.76214256
121regulation of RNA export from nucleus (GO:0046831)2.75512779
122regulation of translational fidelity (GO:0006450)2.74615229
123establishment of protein localization to mitochondrial membrane (GO:0090151)2.73081872
124regulation of ARF GTPase activity (GO:0032312)2.72969494
125negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.72219448
126sphingomyelin metabolic process (GO:0006684)2.71549377
127neuromuscular synaptic transmission (GO:0007274)2.71167411
128regulation of respiratory system process (GO:0044065)2.69821778
129negative regulation of response to food (GO:0032096)2.69399613
130negative regulation of appetite (GO:0032099)2.69399613
131epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.68340694
132regulation of hydrogen peroxide-induced cell death (GO:1903205)2.68079383
133regulation of mitochondrial fission (GO:0090140)2.67458985
134long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.67199341
135DNA integration (GO:0015074)2.66817615
136sulfur amino acid catabolic process (GO:0000098)2.66678764
137establishment or maintenance of apical/basal cell polarity (GO:0035088)2.65724170
138establishment or maintenance of bipolar cell polarity (GO:0061245)2.65724170
139glycosphingolipid biosynthetic process (GO:0006688)2.65557217
140mRNA polyadenylation (GO:0006378)2.65167976
141hypotonic response (GO:0006971)2.65064892
142regulation of response to reactive oxygen species (GO:1901031)2.65056822
143negative regulation of transcription regulatory region DNA binding (GO:2000678)2.63518604
144signal complex assembly (GO:0007172)2.63369316
145neurotransmitter catabolic process (GO:0042135)2.62829302
146glutathione biosynthetic process (GO:0006750)2.62749365
147regulation of protein oligomerization (GO:0032459)2.62381427
148neuromuscular process controlling balance (GO:0050885)2.61780015
149central nervous system neuron axonogenesis (GO:0021955)2.61740548
150synaptic vesicle maturation (GO:0016188)2.61316668
151auditory behavior (GO:0031223)2.60001208
152respiratory system process (GO:0003016)2.59692730
153astrocyte differentiation (GO:0048708)2.59361787
154neurotransmitter-gated ion channel clustering (GO:0072578)2.58451033
155neuron fate commitment (GO:0048663)2.57546278
156pyrimidine dimer repair (GO:0006290)2.57314664
157G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.57021643
158regulation of synapse structural plasticity (GO:0051823)2.56949878
159photoreceptor cell development (GO:0042461)2.56862788
160negative regulation of synaptic transmission, GABAergic (GO:0032229)2.56849961
161otic vesicle formation (GO:0030916)2.56818053
162sympathetic nervous system development (GO:0048485)2.56133140
163positive regulation of synapse assembly (GO:0051965)2.55465113
164positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.54834221
165hippocampus development (GO:0021766)2.54018578
166cerebral cortex radially oriented cell migration (GO:0021799)2.53034476
167regulation of dendritic spine morphogenesis (GO:0061001)2.51988146
168negative regulation of oligodendrocyte differentiation (GO:0048715)2.51680338
169cilium assembly (GO:0042384)2.51403533
170glial cell proliferation (GO:0014009)2.50859340
171cilium organization (GO:0044782)2.50653066
172synaptic vesicle exocytosis (GO:0016079)2.50150918
173limb development (GO:0060173)2.50058178
174appendage development (GO:0048736)2.50058178
175membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.49855110
176olfactory bulb development (GO:0021772)2.49317688
177cilium movement (GO:0003341)2.47338689
178protein localization to cilium (GO:0061512)2.44327360
179glyoxylate metabolic process (GO:0046487)2.42749705
180synaptic transmission, cholinergic (GO:0007271)2.40835215
181regulation of transcription involved in cell fate commitment (GO:0060850)2.40790349
182eye photoreceptor cell development (GO:0042462)2.39760698
183mechanosensory behavior (GO:0007638)2.39706496
184retinal ganglion cell axon guidance (GO:0031290)2.39228380
185spinal cord development (GO:0021510)2.38606208
186amino-acid betaine metabolic process (GO:0006577)2.37894279
187ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.37472386
188cell differentiation in spinal cord (GO:0021515)2.36625456
189synaptic transmission, glutamatergic (GO:0035249)2.35928584
190ionotropic glutamate receptor signaling pathway (GO:0035235)2.34153487
191serine family amino acid catabolic process (GO:0009071)2.34070527

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.66380011
2IGF1R_20145208_ChIP-Seq_DFB_Human3.66616193
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.61751485
4GBX2_23144817_ChIP-Seq_PC3_Human3.31496422
5RBPJ_22232070_ChIP-Seq_NCS_Mouse3.23787883
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.17780561
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.16759342
8SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.12015713
9ERG_21242973_ChIP-ChIP_JURKAT_Human2.97629956
10KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.96791633
11KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.96791633
12KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.96791633
13EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.85101776
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.67875515
15TAF15_26573619_Chip-Seq_HEK293_Human2.52687011
16ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.48118135
17ZNF274_21170338_ChIP-Seq_K562_Hela2.46932627
18SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.45288006
19CBX2_27304074_Chip-Seq_ESCs_Mouse2.40747398
20CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.31649062
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.30485607
22POU3F2_20337985_ChIP-ChIP_501MEL_Human2.29380652
23ZFP57_27257070_Chip-Seq_ESCs_Mouse2.20518209
24SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.17647536
25POU5F1_16518401_ChIP-PET_MESCs_Mouse2.16463484
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.14641137
27SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.11371727
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.04843208
29LXR_22292898_ChIP-Seq_THP-1_Human2.00072605
30RNF2_27304074_Chip-Seq_NSC_Mouse1.99299472
31NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.91687382
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.86872600
33CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.84287577
34TCF3_18692474_ChIP-Seq_MESCs_Mouse1.80456452
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.79888918
36P300_19829295_ChIP-Seq_ESCs_Human1.75233610
37EED_16625203_ChIP-ChIP_MESCs_Mouse1.73339589
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72551218
39DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.71441709
40NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.71176150
41KDM2B_26808549_Chip-Seq_K562_Human1.69885543
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.69712215
43* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.69322302
44ZFP281_18757296_ChIP-ChIP_E14_Mouse1.67996822
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.67004215
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66358827
47FUS_26573619_Chip-Seq_HEK293_Human1.65928844
48RARB_27405468_Chip-Seq_BRAIN_Mouse1.65046108
49JARID2_20064375_ChIP-Seq_MESCs_Mouse1.64993265
50ZFP281_27345836_Chip-Seq_ESCs_Mouse1.63532986
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63074407
52NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.62547328
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.60930920
54TET1_21490601_ChIP-Seq_MESCs_Mouse1.56699240
55STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.56489787
56MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54590596
57SMAD4_21799915_ChIP-Seq_A2780_Human1.52803032
58VDR_21846776_ChIP-Seq_THP-1_Human1.52572876
59KDM2B_26808549_Chip-Seq_SUP-B15_Human1.51792784
60HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.51384461
61CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.51326868
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48693788
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46618195
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.45780241
65CTCF_27219007_Chip-Seq_Bcells_Human1.45354681
66ER_23166858_ChIP-Seq_MCF-7_Human1.45349549
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44967126
68SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.44303140
69EZH2_27294783_Chip-Seq_ESCs_Mouse1.41748131
70RACK7_27058665_Chip-Seq_MCF-7_Human1.41334898
71CBP_20019798_ChIP-Seq_JUKART_Human1.40757825
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40757825
73* KDM2B_26808549_Chip-Seq_DND41_Human1.38038121
74REST_18959480_ChIP-ChIP_MESCs_Mouse1.37887812
75TET1_21451524_ChIP-Seq_MESCs_Mouse1.36097834
76SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36019650
77* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.35860765
78TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35838703
79* STAT3_23295773_ChIP-Seq_U87_Human1.35810562
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35091986
81PU.1_20513432_ChIP-Seq_Bcells_Mouse1.34824113
82AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33250563
83SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.33109999
84AR_25329375_ChIP-Seq_VCAP_Human1.32650749
85* REST_21632747_ChIP-Seq_MESCs_Mouse1.31845598
86JARID2_20075857_ChIP-Seq_MESCs_Mouse1.31565114
87P300_27058665_Chip-Seq_ZR-75-30cells_Human1.31464634
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30561473
89POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.30561473
90TP63_19390658_ChIP-ChIP_HaCaT_Human1.28826883
91RUNX2_22187159_ChIP-Seq_PCA_Human1.27615293
92KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.27366955
93KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.26002945
94PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.25421633
95SMAD3_21741376_ChIP-Seq_EPCs_Human1.24426945
96NANOG_18692474_ChIP-Seq_MESCs_Mouse1.23687664
97* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.21773824
98EZH2_18974828_ChIP-Seq_MESCs_Mouse1.21652538
99RNF2_18974828_ChIP-Seq_MESCs_Mouse1.21652538
100KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21149963
101NFIB_24661679_ChIP-Seq_LUNG_Mouse1.20828998
102TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20805357
103KDM2B_26808549_Chip-Seq_JURKAT_Human1.20341876
104SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.19834930
105PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19830835
106AR_21572438_ChIP-Seq_LNCaP_Human1.19035144
107FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.18781008
108RNF2_27304074_Chip-Seq_ESCs_Mouse1.18611396
109TCF4_23295773_ChIP-Seq_U87_Human1.18103239
110ZNF263_19887448_ChIP-Seq_K562_Human1.16996965
111KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.16664339
112ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.16153399
113NANOG_21062744_ChIP-ChIP_HESCs_Human1.15378949
114EWS_26573619_Chip-Seq_HEK293_Human1.15331261
115TCF3_18692474_ChIP-Seq_MEFs_Mouse1.14758886
116KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.14381993
117VDR_22108803_ChIP-Seq_LS180_Human1.14360946
118TP53_20018659_ChIP-ChIP_R1E_Mouse1.14225732
119RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13684441
120NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.13194115
121SOX2_21211035_ChIP-Seq_LN229_Gbm1.13094557
122ESR2_21235772_ChIP-Seq_MCF-7_Human1.12727175
123EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.11844183
124* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11826508
125PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11751216
126TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.10647293
127OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.10351261
128TAL1_26923725_Chip-Seq_HPCs_Mouse1.10292173
129POU5F1_16153702_ChIP-ChIP_HESCs_Human1.10155974
130TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.10122096
131OCT4_19829295_ChIP-Seq_ESCs_Human1.09806421
132SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.08969211
133HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08039528
134POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.07945323
135* TP53_23651856_ChIP-Seq_MEFs_Mouse1.07036138
136TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06889251
137CREB1_26743006_Chip-Seq_LNCaP_Human1.06869482
138CTCF_21964334_ChIP-Seq_BJAB-B_Human1.06713904
139MTF2_20144788_ChIP-Seq_MESCs_Mouse1.06630059
140SUZ12_27294783_Chip-Seq_ESCs_Mouse1.05688074
141DROSHA_22980978_ChIP-Seq_HELA_Human1.05163928
142CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05100379
143* RARB_24833708_ChIP-Seq_LIVER_Mouse1.04844493
144TP53_22573176_ChIP-Seq_HFKS_Human1.03282172
145VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03011766
146PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.02772003
147CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02713380
148FLI1_27457419_Chip-Seq_LIVER_Mouse1.02698307
149EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.02411139
150WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02099159
151LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02021484
152BCAT_22108803_ChIP-Seq_LS180_Human1.01759261
153* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.01640237
154TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01591310
155ETS1_21867929_ChIP-Seq_TH2_Mouse0.99963543
156* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.99801575
157SOX2_18692474_ChIP-Seq_MESCs_Mouse0.99775253
158RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.99421924
159EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.99395282
160SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99255220
161RING1B_27294783_Chip-Seq_ESCs_Mouse0.98963349
162STAT1_20625510_ChIP-Seq_HELA_Human0.98220533
163NANOG_18555785_Chip-Seq_ESCs_Mouse0.97727014
164SALL1_21062744_ChIP-ChIP_HESCs_Human0.96770878
165TRIM28_21343339_ChIP-Seq_HEK293_Human0.96486116
166DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96368932
167TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96035913
168RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96008661
169AR_19668381_ChIP-Seq_PC3_Human0.95703102
170SMC4_20622854_ChIP-Seq_HELA_Human0.94709723
171TCF4_22108803_ChIP-Seq_LS180_Human0.94635412
172MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94578415
173HTT_18923047_ChIP-ChIP_STHdh_Human0.94418483
174BCOR_27268052_Chip-Seq_Bcells_Human0.93438079
175FLI1_21867929_ChIP-Seq_TH2_Mouse0.93408525
176POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.93254291
177MYC_27129775_Chip-Seq_CORNEA_Mouse0.92956436
178P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92809256
179ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92510202
180SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92384630
181IRF1_19129219_ChIP-ChIP_H3396_Human0.92141361
182SA1_27219007_Chip-Seq_ERYTHROID_Human0.92073769
183NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91477649
184P68_20966046_ChIP-Seq_HELA_Human0.90511228
185SPI1_26923725_Chip-Seq_HPCs_Mouse0.90289508
186SA1_27219007_Chip-Seq_Bcells_Human0.90209602
187E2F1_20622854_ChIP-Seq_HELA_Human0.88274213
188SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.88140485
189EZH2_27304074_Chip-Seq_ESCs_Mouse0.88117077
190RXR_22158963_ChIP-Seq_LIVER_Mouse0.87269388

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation4.62712292
2MP0002638_abnormal_pupillary_reflex4.14543008
3MP0008057_abnormal_DNA_replication3.57192595
4MP0006292_abnormal_olfactory_placode3.27012303
5MP0004233_abnormal_muscle_weight3.01158329
6MP0003787_abnormal_imprinting2.95449129
7MP0000920_abnormal_myelination2.83405494
8MP0008789_abnormal_olfactory_epithelium2.68950478
9MP0004859_abnormal_synaptic_plasticity2.62286609
10MP0010030_abnormal_orbit_morphology2.60995776
11MP0005394_taste/olfaction_phenotype2.60849270
12MP0005499_abnormal_olfactory_system2.60849270
13MP0003283_abnormal_digestive_organ2.53906496
14MP0009278_abnormal_bone_marrow2.48184744
15MP0000462_abnormal_digestive_system2.39170265
16MP0002822_catalepsy2.32224925
17MP0005423_abnormal_somatic_nervous2.25772883
18MP0006072_abnormal_retinal_apoptosis2.20746353
19MP0000579_abnormal_nail_morphology2.13648928
20MP0006276_abnormal_autonomic_nervous2.10629480
21MP0004133_heterotaxia2.04709163
22MP0004885_abnormal_endolymph2.04348359
23MP0004142_abnormal_muscle_tone2.01797891
24MP0004270_analgesia1.98177880
25MP0002653_abnormal_ependyma_morphology1.98136113
26MP0002102_abnormal_ear_morphology1.97950254
27MP0000569_abnormal_digit_pigmentation1.97479967
28MP0003121_genomic_imprinting1.93140779
29MP0003634_abnormal_glial_cell1.88825180
30MP0003122_maternal_imprinting1.85157788
31MP0002735_abnormal_chemical_nociception1.84139788
32MP0009046_muscle_twitch1.81873163
33MP0002064_seizures1.79773235
34MP0001984_abnormal_olfaction1.79772654
35MP0000778_abnormal_nervous_system1.75371476
36MP0000955_abnormal_spinal_cord1.73858534
37MP0000639_abnormal_adrenal_gland1.73144987
38MP0003690_abnormal_glial_cell1.72131639
39MP0003329_amyloid_beta_deposits1.71368136
40MP0002249_abnormal_larynx_morphology1.69621070
41MP0001485_abnormal_pinna_reflex1.68796300
42MP0002837_dystrophic_cardiac_calcinosis1.67776158
43MP0003880_abnormal_central_pattern1.66468240
44MP0005058_abnormal_lysosome_morphology1.65363462
45MP0002938_white_spotting1.62944173
46MP0003950_abnormal_plasma_membrane1.60388338
47MP0002272_abnormal_nervous_system1.59087052
48MP0003635_abnormal_synaptic_transmissio1.56133784
49MP0004185_abnormal_adipocyte_glucose1.55136556
50MP0002572_abnormal_emotion/affect_behav1.52482893
51MP0008995_early_reproductive_senescence1.51790541
52MP0002557_abnormal_social/conspecific_i1.51141869
53MP0001986_abnormal_taste_sensitivity1.50826199
54MP0002009_preneoplasia1.49996554
55MP0005646_abnormal_pituitary_gland1.49546562
56MP0003119_abnormal_digestive_system1.48064799
57MP0003890_abnormal_embryonic-extraembry1.47004342
58MP0002063_abnormal_learning/memory/cond1.43872874
59MP0003172_abnormal_lysosome_physiology1.41853324
60MP0001340_abnormal_eyelid_morphology1.39678924
61MP0001968_abnormal_touch/_nociception1.39201810
62MP0002734_abnormal_mechanical_nocicepti1.39061841
63MP0010386_abnormal_urinary_bladder1.37942874
64MP0001486_abnormal_startle_reflex1.37389716
65MP0003453_abnormal_keratinocyte_physiol1.36587727
66MP0002269_muscular_atrophy1.31209415
67MP0002733_abnormal_thermal_nociception1.31032790
68MP0005670_abnormal_white_adipose1.30201784
69MP0000762_abnormal_tongue_morphology1.29588164
70MP0005645_abnormal_hypothalamus_physiol1.29285830
71MP0005248_abnormal_Harderian_gland1.27712710
72MP0002234_abnormal_pharynx_morphology1.25059031
73MP0005623_abnormal_meninges_morphology1.23931845
74MP0002882_abnormal_neuron_morphology1.23106279
75MP0005410_abnormal_fertilization1.22993601
76MP0001501_abnormal_sleep_pattern1.22722571
77MP0001970_abnormal_pain_threshold1.21681029
78MP0002066_abnormal_motor_capabilities/c1.20469592
79MP0008877_abnormal_DNA_methylation1.20432477
80MP0005257_abnormal_intraocular_pressure1.19723455
81MP0000049_abnormal_middle_ear1.19581290
82MP0002229_neurodegeneration1.17742586
83MP0003136_yellow_coat_color1.17650323
84MP0003633_abnormal_nervous_system1.17419570
85MP0005187_abnormal_penis_morphology1.16443029
86MP0001293_anophthalmia1.16175290
87MP0003137_abnormal_impulse_conducting1.10919813
88MP0001502_abnormal_circadian_rhythm1.10585977
89MP0004134_abnormal_chest_morphology1.09549336
90MP0003631_nervous_system_phenotype1.06605242
91MP0002152_abnormal_brain_morphology1.04740770
92MP0000631_abnormal_neuroendocrine_gland1.04491755
93MP0002282_abnormal_trachea_morphology1.02442023
94MP0002084_abnormal_developmental_patter1.01103444
95MP0005195_abnormal_posterior_eye1.00860762
96MP0000467_abnormal_esophagus_morphology1.00700910
97MP0002751_abnormal_autonomic_nervous1.00536214
98MP0003718_maternal_effect1.00326427
99MP0005174_abnormal_tail_pigmentation0.99265761
100MP0003045_fibrosis0.98601996
101MP0005253_abnormal_eye_physiology0.97942615
102MP0003755_abnormal_palate_morphology0.97818741
103MP0002736_abnormal_nociception_after0.97040496
104MP0002932_abnormal_joint_morphology0.97008468
105MP0003632_abnormal_nervous_system0.96684271
106MP0001188_hyperpigmentation0.94960776
107MP0002752_abnormal_somatic_nervous0.94746731
108MP0005085_abnormal_gallbladder_physiolo0.94535196
109MP0004924_abnormal_behavior0.94097562
110MP0005386_behavior/neurological_phenoty0.94097562
111MP0004145_abnormal_muscle_electrophysio0.93252882
112MP0009745_abnormal_behavioral_response0.93165414
113MP0003011_delayed_dark_adaptation0.92204060
114MP0000747_muscle_weakness0.91284419
115MP0003861_abnormal_nervous_system0.91259942
116MP0008569_lethality_at_weaning0.90450237
117MP0001963_abnormal_hearing_physiology0.90241726
118MP0002085_abnormal_embryonic_tissue0.89382102
119MP0004742_abnormal_vestibular_system0.89356700
120MP0002069_abnormal_eating/drinking_beha0.88750745
121MP0001529_abnormal_vocalization0.87704237
122MP0000470_abnormal_stomach_morphology0.86070996
123MP0002114_abnormal_axial_skeleton0.86049479
124MP0002160_abnormal_reproductive_system0.84990155
125MP0000026_abnormal_inner_ear0.83892722
126MP0003385_abnormal_body_wall0.83612659
127MP0002111_abnormal_tail_morphology0.83455538
128MP0002067_abnormal_sensory_capabilities0.83226415
129MP0004811_abnormal_neuron_physiology0.83012344
130MP0005551_abnormal_eye_electrophysiolog0.81529744
131MP0002876_abnormal_thyroid_physiology0.80687220
132MP0001905_abnormal_dopamine_level0.80288074
133MP0004043_abnormal_pH_regulation0.79978480
134MP0000647_abnormal_sebaceous_gland0.79038303
135MP0008875_abnormal_xenobiotic_pharmacok0.77888606
136MP0001346_abnormal_lacrimal_gland0.77745319
137MP0005365_abnormal_bile_salt0.77245836
138MP0000015_abnormal_ear_pigmentation0.76408384
139MP0008874_decreased_physiological_sensi0.74929794
140MP0003656_abnormal_erythrocyte_physiolo0.74769433
141MP0002116_abnormal_craniofacial_bone0.74643178
142MP0000613_abnormal_salivary_gland0.74544685
143MP0002909_abnormal_adrenal_gland0.73932932
144MP0003698_abnormal_male_reproductive0.72421878
145MP0004215_abnormal_myocardial_fiber0.72399309
146MP0005391_vision/eye_phenotype0.72300799
147MP0002184_abnormal_innervation0.71658083
148MP0005379_endocrine/exocrine_gland_phen0.71554970
149MP0001324_abnormal_eye_pigmentation0.71285350
150MP0002233_abnormal_nose_morphology0.69882911
151MP0003646_muscle_fatigue0.68330684

Predicted human phenotypes

RankGene SetZ-score
1Turricephaly (HP:0000262)5.06677507
2Coronal craniosynostosis (HP:0004440)4.94169503
3Alacrima (HP:0000522)4.86200425
4Concave nail (HP:0001598)4.47870637
5Anteriorly placed anus (HP:0001545)4.39879469
6Rib fusion (HP:0000902)4.17380729
7Ulnar bowing (HP:0003031)3.98637956
8Premature skin wrinkling (HP:0100678)3.84331921
9Annular pancreas (HP:0001734)3.83404382
10Neurofibrillary tangles (HP:0002185)3.81302106
11Facial hemangioma (HP:0000329)3.78701998
12Gait imbalance (HP:0002141)3.78638158
13Male infertility (HP:0003251)3.78428549
14Decreased lacrimation (HP:0000633)3.78202472
15Medial flaring of the eyebrow (HP:0010747)3.63123002
16Clumsiness (HP:0002312)3.59595232
17Hyperventilation (HP:0002883)3.59140242
18Rectovaginal fistula (HP:0000143)3.57577740
19Rectal fistula (HP:0100590)3.57577740
20Congenital primary aphakia (HP:0007707)3.51447995
21Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.48817955
22Degeneration of the lateral corticospinal tracts (HP:0002314)3.48817955
23Myokymia (HP:0002411)3.24459454
24Nephrogenic diabetes insipidus (HP:0009806)3.19247292
25Thickened helices (HP:0000391)3.16300738
26Vaginal fistula (HP:0004320)3.15744780
27True hermaphroditism (HP:0010459)3.12506352
28Renal cortical cysts (HP:0000803)3.10364424
29Large for gestational age (HP:0001520)3.07690462
30Cerebral inclusion bodies (HP:0100314)3.05772791
31Intestinal fistula (HP:0100819)3.04790392
32Focal motor seizures (HP:0011153)2.95698266
33Genital tract atresia (HP:0001827)2.95344740
34Pancreatic cysts (HP:0001737)2.88353945
35Chronic hepatic failure (HP:0100626)2.86624292
36Vaginal atresia (HP:0000148)2.86063086
37Abnormality of the corticospinal tract (HP:0002492)2.85755004
38Intention tremor (HP:0002080)2.85505683
39Hypoplasia of the fovea (HP:0007750)2.82082634
40Aplasia/Hypoplasia of the fovea (HP:0008060)2.82082634
41Hypochromic microcytic anemia (HP:0004840)2.81065643
42Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.79023848
43Tubulointerstitial nephritis (HP:0001970)2.78479438
44Nephronophthisis (HP:0000090)2.77750577
45Absent speech (HP:0001344)2.75863273
46Retinal dysplasia (HP:0007973)2.74666354
47Pancreatic islet-cell hyperplasia (HP:0004510)2.72063167
48Choanal stenosis (HP:0000452)2.68063182
49Pancreatic fibrosis (HP:0100732)2.67984137
50Molar tooth sign on MRI (HP:0002419)2.66587950
51Abnormality of midbrain morphology (HP:0002418)2.66587950
52Alopecia of scalp (HP:0002293)2.65318996
53Cerebral hypomyelination (HP:0006808)2.64382908
54Aplasia/Hypoplasia of the lens (HP:0008063)2.63077834
55Optic nerve hypoplasia (HP:0000609)2.63052822
56Polyphagia (HP:0002591)2.62651027
57Diaphragmatic weakness (HP:0009113)2.60840283
58Dysmetria (HP:0001310)2.57692003
59Limb dystonia (HP:0002451)2.57341411
60Poor coordination (HP:0002370)2.56717694
61Peripheral hypomyelination (HP:0007182)2.56567549
62Hepatoblastoma (HP:0002884)2.51583920
63Abnormality of the fovea (HP:0000493)2.50865654
64Atonic seizures (HP:0010819)2.49851240
65Short humerus (HP:0005792)2.48904458
66Supranuclear gaze palsy (HP:0000605)2.47535672
67Abnormal hemoglobin (HP:0011902)2.44218726
68Drooling (HP:0002307)2.44164273
69Akinesia (HP:0002304)2.44135370
70Pustule (HP:0200039)2.42819917
71Increased IgM level (HP:0003496)2.42309818
72Abnormality of the renal cortex (HP:0011035)2.42033481
73Short chin (HP:0000331)2.38814535
74Intestinal atresia (HP:0011100)2.37201800
75Congenital hip dislocation (HP:0001374)2.35091452
76Abnormality of the renal medulla (HP:0100957)2.34382169
77Progressive cerebellar ataxia (HP:0002073)2.34375636
78Broad foot (HP:0001769)2.34272391
79Abnormality of the labia minora (HP:0012880)2.34238907
80Amyotrophic lateral sclerosis (HP:0007354)2.31812089
81Diminished movement (HP:0002374)2.31732665
82Dysostosis multiplex (HP:0000943)2.31423274
83Broad-based gait (HP:0002136)2.31228339
84Focal seizures (HP:0007359)2.29108082
85Febrile seizures (HP:0002373)2.28987137
86Specific learning disability (HP:0001328)2.28650455
87Aplasia/hypoplasia of the humerus (HP:0006507)2.28467526
88Exotropia (HP:0000577)2.27937942
89Epileptiform EEG discharges (HP:0011182)2.27855930
90Absent radius (HP:0003974)2.27260193
91Hypsarrhythmia (HP:0002521)2.26690905
92EEG with generalized epileptiform discharges (HP:0011198)2.26299395
93Hamartoma (HP:0010566)2.26061608
94Hyperglycinemia (HP:0002154)2.24591609
95Aplasia of the musculature (HP:0100854)2.23120081
96Dysdiadochokinesis (HP:0002075)2.19373513
97Poikiloderma (HP:0001029)2.19333423
98Sensory axonal neuropathy (HP:0003390)2.18629960
99Lissencephaly (HP:0001339)2.18562420
100Absent forearm bone (HP:0003953)2.18506312
101Aplasia involving forearm bones (HP:0009822)2.18506312
102Bowing of the arm (HP:0006488)2.17873233
103Bowed forearm bones (HP:0003956)2.17873233
104Orthostatic hypotension (HP:0001278)2.17685727
105Excessive salivation (HP:0003781)2.16926633
106Broad alveolar ridges (HP:0000187)2.14452018
107Pachygyria (HP:0001302)2.14212112
108Insidious onset (HP:0003587)2.13525677
109Termporal pattern (HP:0011008)2.13525677
110Fair hair (HP:0002286)2.12872995
111Pendular nystagmus (HP:0012043)2.12381955
112Dysautonomia (HP:0002459)2.12216756
113Spastic gait (HP:0002064)2.12172064
114Narrow nasal bridge (HP:0000446)2.07720855
115Optic nerve coloboma (HP:0000588)2.07545493
116Methylmalonic acidemia (HP:0002912)2.07301138
117Tongue fasciculations (HP:0001308)2.07075977
118Oligodactyly (hands) (HP:0001180)2.05953452
119Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04830642
120Partial agenesis of the corpus callosum (HP:0001338)2.04139319
121Urinary urgency (HP:0000012)2.00194664
122Vertebral hypoplasia (HP:0008417)1.98832225
123Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.98832225
124Gastrointestinal atresia (HP:0002589)1.98535823
125Split foot (HP:0001839)1.97279663
126Amniotic constriction ring (HP:0009775)1.96949438
127Abnormality of placental membranes (HP:0011409)1.96949438
128Aplasia/Hypoplasia of the brainstem (HP:0007362)1.96343372
129Hypoplasia of the brainstem (HP:0002365)1.96343372
130Papillary thyroid carcinoma (HP:0002895)1.95385138
131Type II lissencephaly (HP:0007260)1.95250777
132Megalencephaly (HP:0001355)1.94865151
133Postaxial hand polydactyly (HP:0001162)1.93414734
134Urinary glycosaminoglycan excretion (HP:0003541)1.93229005
135Mucopolysacchariduria (HP:0008155)1.93229005
136Abnormality of the aortic arch (HP:0012303)1.92800295
137Action tremor (HP:0002345)1.90873210
138Hemiparesis (HP:0001269)1.90668247
139Hypoplasia of the ulna (HP:0003022)1.89285002
140Hypokinesia (HP:0002375)1.88702106
141Gonadotropin excess (HP:0000837)1.87995965
142Pheochromocytoma (HP:0002666)1.87976353
143Thyroid-stimulating hormone excess (HP:0002925)1.87915047
144Ankle clonus (HP:0011448)1.87869938
145Split hand (HP:0001171)1.87838499
146Decreased testicular size (HP:0008734)1.86976018
147Methylmalonic aciduria (HP:0012120)1.86456385
148Abnormal eating behavior (HP:0100738)1.85671499
149Fetal akinesia sequence (HP:0001989)1.85652923
150Onion bulb formation (HP:0003383)1.85054510
151Muscle fibrillation (HP:0010546)1.84809032
152Impaired vibration sensation in the lower limbs (HP:0002166)1.84445270
153Abnormality of aromatic amino acid family metabolism (HP:0004338)1.83974734
154Dyskinesia (HP:0100660)1.83082833
155Inability to walk (HP:0002540)1.83075217
156Progressive neurologic deterioration (HP:0002344)1.82482938
157Abnormality of the pancreatic islet cells (HP:0006476)1.82218167
158Abnormality of endocrine pancreas physiology (HP:0012093)1.82218167
159Aqueductal stenosis (HP:0002410)1.82187273
160Abnormality of the periventricular white matter (HP:0002518)1.82092131
161Morphological abnormality of the pyramidal tract (HP:0002062)1.81661134
162Narrow forehead (HP:0000341)1.80712042
163Agitation (HP:0000713)1.80642079
164Epileptic encephalopathy (HP:0200134)1.79955211
165Micropenis (HP:0000054)1.79947140
166Abnormality of the lower motor neuron (HP:0002366)1.79906826
167Hypotrichosis (HP:0001006)1.78473289
168Congenital hepatic fibrosis (HP:0002612)1.77963128
169Left ventricular hypertrophy (HP:0001712)1.77129331
170Rimmed vacuoles (HP:0003805)1.76822856
171Dialeptic seizures (HP:0011146)1.75744015
172Occipital encephalocele (HP:0002085)1.75093308
173Abnormality of mucopolysaccharide metabolism (HP:0011020)1.74861642
174Abnormality of polysaccharide metabolism (HP:0011012)1.74861642
175Abnormality of glycosaminoglycan metabolism (HP:0004371)1.74861642
176Vertebral fusion (HP:0002948)1.74153147
177Esophageal atresia (HP:0002032)1.73425955
178Aplasia/Hypoplasia of the tongue (HP:0010295)1.73126136
179Scrotal hypoplasia (HP:0000046)1.72663587
180Growth hormone excess (HP:0000845)1.71793438
181Cystic liver disease (HP:0006706)1.71091996
182Albinism (HP:0001022)1.70953823
183Atrophy/Degeneration involving motor neurons (HP:0007373)1.68580333
184Decreased central vision (HP:0007663)1.68066883
185Exercise-induced muscle cramps (HP:0003710)1.66523807
186Retinitis pigmentosa (HP:0000510)1.66231783
187Renal hypoplasia (HP:0000089)1.65818659
188Abnormality of the intervertebral disk (HP:0005108)1.65084351
189Genetic anticipation (HP:0003743)1.64944488
190Hip dysplasia (HP:0001385)1.64788685
191Abnormal biliary tract physiology (HP:0012439)1.64114107
192Bile duct proliferation (HP:0001408)1.64114107
193Amblyopia (HP:0000646)1.63543249

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ICK5.89090877
2DDR24.27377897
3MAP3K64.05223029
4MAPK154.00410137
5MAPK133.56215006
6TYRO33.53649209
7CASK3.42220480
8STK163.20240243
9MAP4K22.92614929
10FGR2.91615508
11STK392.82169810
12UHMK12.79533063
13EPHA32.78520317
14MAP2K72.69427402
15PINK12.40958783
16PRKD22.25774365
17MAP3K112.12345864
18NEK12.12199037
19BMX2.06180520
20TRIM282.00219085
21OXSR11.90760483
22MATK1.90587272
23WNK31.77858658
24PRPF4B1.68980978
25PDGFRA1.57911863
26PIK3CA1.50577472
27CSK1.47553758
28CDK191.46201467
29DYRK1B1.46021380
30MAP3K91.45032321
31PAK61.41347156
32PHKG21.40791308
33PHKG11.40791308
34LATS21.38820561
35DAPK11.36503669
36MAP2K41.31364530
37SIK21.28890562
38NUAK11.27211023
39EPHB11.25078814
40SRPK11.17806136
41CSNK1G11.17586370
42BCKDK1.16331247
43CAMK2B1.15358141
44OBSCN1.13124003
45NTRK11.12682026
46YES11.10450848
47PRKCG1.10442390
48TRPM71.09968666
49FRK1.06303360
50EPHA41.05746000
51WNK41.01737563
52TAOK31.00609789
53GSK3A0.99817156
54CDK30.98320641
55SGK4940.97747627
56SGK2230.97747627
57DYRK30.97279084
58MET0.96704788
59PKN10.96437337
60FGFR20.95339745
61CSNK1G30.94554599
62ERBB30.92799194
63SGK20.92732192
64CDC42BPA0.92029055
65PRKD30.91616402
66MINK10.90258022
67CAMKK20.88897087
68CAMK10.88843397
69MARK20.88461843
70CSNK1A1L0.88186920
71HIPK20.88062377
72CAMK2G0.85937057
73NTRK30.85530662
74CAMK2D0.82315140
75STK38L0.81813177
76DAPK20.80965339
77PLK20.80331226
78CAMK40.79724116
79NTRK20.78310752
80BRD40.77566666
81CSNK1G20.77275311
82EPHB20.77113704
83AKT30.75297229
84CCNB10.75085011
85CAMK2A0.74565076
86WNK10.72303934
87GRK10.72226797
88CDK70.72076708
89PRKCE0.67940625
90PDK20.67327412
91CAMK1D0.66970601
92MAPK70.66218360
93DYRK20.65328391
94PIM20.65164677
95PTK2B0.64014151
96CDK50.62990553
97MAPK110.61852485
98CDK150.61186004
99TESK20.60754429
100PDGFRB0.60731344
101PRKD10.60359132
102CDK11A0.59314091
103CHEK20.57774268
104DYRK1A0.57412630
105TNK20.57308670
106PRKAA10.57090396
107CDK140.56992771
108KSR20.56135220
109CDK60.55400289
110SIK30.54985509
111PRKACA0.54513347
112INSRR0.54171875
113ADRBK20.53282800
114CDK180.53225543
115CSNK1A10.53138225
116MTOR0.51880838
117MARK10.50034161
118CSNK1D0.49975513
119MAPK100.49872173
120ROCK20.49292998
121ERBB40.48875235
122TAOK10.48797595
123RPS6KL10.48142656
124RPS6KC10.48142656
125LATS10.48089726
126RAF10.47275349
127BCR0.47102838
128MAP3K50.47080323
129IRAK20.46922251
130MAPKAPK50.45959779
131PAK30.45842971
132PTK20.43464087
133RPS6KB10.41887502
134DMPK0.40854323
135CAMKK10.39669248
136PKN20.39667936
137VRK10.39598182
138STK110.39303018
139EGFR0.39252846
140ALK0.38162851
141RPS6KA60.38128257
142PNCK0.37509268
143PRKACB0.36193785
144RET0.36061092
145RPS6KA50.35871442
146GSK3B0.35148293
147PRKACG0.35042107
148CAMK1G0.34137145
149RPS6KA10.33667186
150SGK10.33076098
151STK30.32796131
152INSR0.32740151
153RPS6KA40.32519974
154MAP3K40.32302919
155BMPR1B0.32275460
156PIM10.30090005
157TNIK0.28252283
158RPS6KA30.28115555
159MAPK10.27706571
160PRKCZ0.27268960
161CSNK1E0.26912808
162STK380.26404298

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000615.25252637
2Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.31690975
3Steroid biosynthesis_Homo sapiens_hsa001003.18579702
4Fatty acid elongation_Homo sapiens_hsa000622.72541647
5Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.54282433
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.48201998
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.18794692
8Arginine and proline metabolism_Homo sapiens_hsa003302.15336867
9Nitrogen metabolism_Homo sapiens_hsa009102.04918555
10Hedgehog signaling pathway_Homo sapiens_hsa043402.03376619
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.02776181
12Fatty acid metabolism_Homo sapiens_hsa012122.01702734
13Caffeine metabolism_Homo sapiens_hsa002321.85112867
14Hippo signaling pathway_Homo sapiens_hsa043901.71214400
15Vitamin B6 metabolism_Homo sapiens_hsa007501.61643633
16Circadian rhythm_Homo sapiens_hsa047101.61467196
17Peroxisome_Homo sapiens_hsa041461.59999647
18Base excision repair_Homo sapiens_hsa034101.59714457
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.57251326
20Ether lipid metabolism_Homo sapiens_hsa005651.55482942
21Regulation of autophagy_Homo sapiens_hsa041401.52279794
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.50924419
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.46565504
24Dorso-ventral axis formation_Homo sapiens_hsa043201.45651936
25Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.43745352
26Phototransduction_Homo sapiens_hsa047441.43691017
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.40274921
28Taste transduction_Homo sapiens_hsa047421.39836751
29GABAergic synapse_Homo sapiens_hsa047271.38669758
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.38600575
31Axon guidance_Homo sapiens_hsa043601.36492581
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.36167822
33mTOR signaling pathway_Homo sapiens_hsa041501.32508544
34Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.31961052
35Steroid hormone biosynthesis_Homo sapiens_hsa001401.31079253
36ErbB signaling pathway_Homo sapiens_hsa040121.30048570
37Insulin secretion_Homo sapiens_hsa049111.29731201
38Notch signaling pathway_Homo sapiens_hsa043301.28269644
39Folate biosynthesis_Homo sapiens_hsa007901.27927183
40Wnt signaling pathway_Homo sapiens_hsa043101.27537511
41Long-term depression_Homo sapiens_hsa047301.27427081
42Mismatch repair_Homo sapiens_hsa034301.25909342
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.25281088
44Arginine biosynthesis_Homo sapiens_hsa002201.23631144
45Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.21718051
46Tight junction_Homo sapiens_hsa045301.19447719
47VEGF signaling pathway_Homo sapiens_hsa043701.17864664
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.16315623
49Cardiac muscle contraction_Homo sapiens_hsa042601.15756461
50Oxidative phosphorylation_Homo sapiens_hsa001901.15077022
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.14765193
52beta-Alanine metabolism_Homo sapiens_hsa004101.14074144
53Gap junction_Homo sapiens_hsa045401.11944859
54Fatty acid degradation_Homo sapiens_hsa000711.11852103
55Glutamatergic synapse_Homo sapiens_hsa047241.10511977
56Choline metabolism in cancer_Homo sapiens_hsa052311.07861382
57Butanoate metabolism_Homo sapiens_hsa006501.07856182
58Basal cell carcinoma_Homo sapiens_hsa052171.07251373
59Retinol metabolism_Homo sapiens_hsa008301.06367210
60Longevity regulating pathway - mammal_Homo sapiens_hsa042111.05736932
61Parkinsons disease_Homo sapiens_hsa050121.05573630
62Lysine degradation_Homo sapiens_hsa003101.02574432
63Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96936974
64Linoleic acid metabolism_Homo sapiens_hsa005910.94355257
65Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.92641704
66Tryptophan metabolism_Homo sapiens_hsa003800.91943223
67Biosynthesis of amino acids_Homo sapiens_hsa012300.91898483
68Chemical carcinogenesis_Homo sapiens_hsa052040.90818047
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.89848933
70Nicotine addiction_Homo sapiens_hsa050330.89654658
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89604257
72Bladder cancer_Homo sapiens_hsa052190.88639603
73Oocyte meiosis_Homo sapiens_hsa041140.87934463
74Endocytosis_Homo sapiens_hsa041440.87370927
75TGF-beta signaling pathway_Homo sapiens_hsa043500.84348135
76Regulation of actin cytoskeleton_Homo sapiens_hsa048100.84043286
77PPAR signaling pathway_Homo sapiens_hsa033200.83989670
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.81774648
79Phenylalanine metabolism_Homo sapiens_hsa003600.80596230
80Adherens junction_Homo sapiens_hsa045200.80312117
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.80190631
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.79815210
83Collecting duct acid secretion_Homo sapiens_hsa049660.79672810
84Cholinergic synapse_Homo sapiens_hsa047250.79395821
85Renal cell carcinoma_Homo sapiens_hsa052110.78146387
86Morphine addiction_Homo sapiens_hsa050320.76140400
87GnRH signaling pathway_Homo sapiens_hsa049120.72922670
88Histidine metabolism_Homo sapiens_hsa003400.72308901
89mRNA surveillance pathway_Homo sapiens_hsa030150.70723893
90Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.70609139
91MAPK signaling pathway_Homo sapiens_hsa040100.69096385
92ABC transporters_Homo sapiens_hsa020100.69001318
93Glycerophospholipid metabolism_Homo sapiens_hsa005640.68945038
94Dopaminergic synapse_Homo sapiens_hsa047280.68073529
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.64444270
96Huntingtons disease_Homo sapiens_hsa050160.63891662
97Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63545032
98Tyrosine metabolism_Homo sapiens_hsa003500.62929132
99Serotonergic synapse_Homo sapiens_hsa047260.62711818
100Cocaine addiction_Homo sapiens_hsa050300.61315927
101Ras signaling pathway_Homo sapiens_hsa040140.60387557
102Estrogen signaling pathway_Homo sapiens_hsa049150.59557543
103Synaptic vesicle cycle_Homo sapiens_hsa047210.58237034
104Amphetamine addiction_Homo sapiens_hsa050310.57831701
105AMPK signaling pathway_Homo sapiens_hsa041520.56475010
106cAMP signaling pathway_Homo sapiens_hsa040240.54985664
107Sulfur relay system_Homo sapiens_hsa041220.54654226
108Type II diabetes mellitus_Homo sapiens_hsa049300.54262688
109Metabolic pathways_Homo sapiens_hsa011000.53654741
110Calcium signaling pathway_Homo sapiens_hsa040200.52659813
111Phospholipase D signaling pathway_Homo sapiens_hsa040720.52166161
112Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49904239
113Shigellosis_Homo sapiens_hsa051310.49508561
114Melanogenesis_Homo sapiens_hsa049160.49203362
115Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.48713175
116Salivary secretion_Homo sapiens_hsa049700.48250768
117Ovarian steroidogenesis_Homo sapiens_hsa049130.48156549
118Alzheimers disease_Homo sapiens_hsa050100.48138143
119Glycerolipid metabolism_Homo sapiens_hsa005610.47714976
120Carbon metabolism_Homo sapiens_hsa012000.47388275
121Starch and sucrose metabolism_Homo sapiens_hsa005000.46342049
122Oxytocin signaling pathway_Homo sapiens_hsa049210.46316456
123Protein export_Homo sapiens_hsa030600.45449676
124Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45022916
125Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.44927443
126Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.44371815
127Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43756991
128Basal transcription factors_Homo sapiens_hsa030220.43529142
129Pyruvate metabolism_Homo sapiens_hsa006200.43216520
130Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.42344294
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40800037
132Transcriptional misregulation in cancer_Homo sapiens_hsa052020.40736351
133Circadian entrainment_Homo sapiens_hsa047130.40462608
134Alcoholism_Homo sapiens_hsa050340.40193665
135Long-term potentiation_Homo sapiens_hsa047200.40142749
136Propanoate metabolism_Homo sapiens_hsa006400.39860012
137Colorectal cancer_Homo sapiens_hsa052100.39542212
138Glutathione metabolism_Homo sapiens_hsa004800.38539620
139Bile secretion_Homo sapiens_hsa049760.36226373
140Gastric acid secretion_Homo sapiens_hsa049710.36132447
141Rap1 signaling pathway_Homo sapiens_hsa040150.35763056
1422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.35636491
143Olfactory transduction_Homo sapiens_hsa047400.35371766
144Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.35367304
145Sphingolipid metabolism_Homo sapiens_hsa006000.35080599
146Pentose and glucuronate interconversions_Homo sapiens_hsa000400.34542399
147Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.34116562
148Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33301478
149Lysosome_Homo sapiens_hsa041420.33220802

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