OTUB2

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





Description: This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)9.61697625
2acrosome assembly (GO:0001675)8.88696873
3acrosome reaction (GO:0007340)8.64801813
4sperm-egg recognition (GO:0035036)8.59242482
5multicellular organism reproduction (GO:0032504)8.18454095
6plasma membrane fusion (GO:0045026)8.14772972
7binding of sperm to zona pellucida (GO:0007339)7.80449363
8epithelial cilium movement (GO:0003351)7.69930196
9cell-cell recognition (GO:0009988)7.67236144
10reproduction (GO:0000003)7.14547031
11spermatid development (GO:0007286)7.04881610
12cilium or flagellum-dependent cell motility (GO:0001539)7.01371656
13axonemal dynein complex assembly (GO:0070286)6.89517706
14keratinization (GO:0031424)6.80165077
15motile cilium assembly (GO:0044458)6.79438532
16cilium movement (GO:0003341)6.36801893
17regulation of cilium movement (GO:0003352)6.36429073
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.98348994
19negative regulation of inclusion body assembly (GO:0090084)5.85100249
20sperm capacitation (GO:0048240)5.52972235
21single fertilization (GO:0007338)5.43869282
22male meiosis (GO:0007140)5.35426826
23calcium ion-dependent exocytosis (GO:0017156)5.33345698
24synaptonemal complex organization (GO:0070193)5.32903531
25piRNA metabolic process (GO:0034587)5.24110216
26synaptonemal complex assembly (GO:0007130)5.22807026
27microtubule depolymerization (GO:0007019)5.19416044
28microtubule severing (GO:0051013)4.99051719
29establishment of skin barrier (GO:0061436)4.87698202
30spermatogenesis (GO:0007283)4.83988851
31male gamete generation (GO:0048232)4.82183626
32spermatid nucleus differentiation (GO:0007289)4.67177216
33regulation of inclusion body assembly (GO:0090083)4.60518537
34fertilization (GO:0009566)4.50506928
35gamete generation (GO:0007276)4.47767349
36long-chain fatty acid biosynthetic process (GO:0042759)4.42925385
37positive regulation of mitochondrial fission (GO:0090141)4.30257222
38cell recognition (GO:0008037)4.27484831
39pattern specification involved in kidney development (GO:0061004)4.12039916
40L-serine transport (GO:0015825)4.08932059
41desmosome organization (GO:0002934)4.04964331
42protein polyglutamylation (GO:0018095)4.01913661
43cellular process involved in reproduction in multicellular organism (GO:0022412)3.97337293
44germ cell development (GO:0007281)3.92334594
45ventricular system development (GO:0021591)3.92166319
46single strand break repair (GO:0000012)3.87486474
47regulation of water loss via skin (GO:0033561)3.86091191
48organic cation transport (GO:0015695)3.78929865
49regulation of microtubule-based movement (GO:0060632)3.72179568
50monoubiquitinated protein deubiquitination (GO:0035520)3.71278125
51chromosome condensation (GO:0030261)3.62628133
52protein localization to cilium (GO:0061512)3.59171229
53left/right pattern formation (GO:0060972)3.54878470
54pyrimidine nucleobase catabolic process (GO:0006208)3.51827277
55sexual reproduction (GO:0019953)3.50872308
56multicellular organismal reproductive process (GO:0048609)3.50811203
57seminiferous tubule development (GO:0072520)3.49461242
58protein localization to synapse (GO:0035418)3.41359632
59behavioral response to nicotine (GO:0035095)3.38086973
60serine transport (GO:0032329)3.37694129
61keratinocyte differentiation (GO:0030216)3.29833444
62DNA packaging (GO:0006323)3.28381458
63glycerol ether metabolic process (GO:0006662)3.26165022
64fatty acid elongation (GO:0030497)3.22585910
65chromosome organization involved in meiosis (GO:0070192)3.18130628
66male meiosis I (GO:0007141)3.17642628
67meiotic nuclear division (GO:0007126)3.17499809
68membrane depolarization during action potential (GO:0086010)3.14536350
69regulation of short-term neuronal synaptic plasticity (GO:0048172)3.12698210
70basic amino acid transport (GO:0015802)3.11108213
71positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.09975378
72DNA methylation involved in gamete generation (GO:0043046)3.09231055
73glycolytic process (GO:0006096)3.08009708
74regulation of mitochondrial fission (GO:0090140)3.06182079
75microtubule polymerization or depolymerization (GO:0031109)3.04028859
76ectoderm development (GO:0007398)3.02217888
77gamma-aminobutyric acid transport (GO:0015812)2.98300069
78ether metabolic process (GO:0018904)2.96621608
79peptidyl-threonine dephosphorylation (GO:0035970)2.91964006
80calcium ion import (GO:0070509)2.91233947
81synaptic vesicle docking involved in exocytosis (GO:0016081)2.89678898
82positive regulation of glomerulus development (GO:0090193)2.89155190
83ephrin receptor signaling pathway (GO:0048013)2.89137177
84positive regulation of synapse maturation (GO:0090129)2.88777075
85multicellular organismal development (GO:0007275)2.87292417
86synaptic vesicle exocytosis (GO:0016079)2.86661770
87calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.86458049
88hair cycle (GO:0042633)2.85384378
89molting cycle (GO:0042303)2.85384378
90regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.83533300
91epidermal cell differentiation (GO:0009913)2.82357270
92nucleobase catabolic process (GO:0046113)2.82113448
93negative regulation of synaptic transmission, GABAergic (GO:0032229)2.80271888
94regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.79755434
95establishment of protein localization to mitochondrial membrane (GO:0090151)2.78198859
96positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.77038439
97hemidesmosome assembly (GO:0031581)2.76231936
98microtubule-based movement (GO:0007018)2.74651956
99meiosis I (GO:0007127)2.74499968
100negative regulation of organelle assembly (GO:1902116)2.70910970
101protein refolding (GO:0042026)2.69193140
102auditory receptor cell differentiation (GO:0042491)2.67289562
103skin morphogenesis (GO:0043589)2.62995044
104nucleosome disassembly (GO:0006337)2.62927564
105protein-DNA complex disassembly (GO:0032986)2.62927564
106inner ear receptor cell differentiation (GO:0060113)2.62423767
107negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.61391205
108glutamate secretion (GO:0014047)2.57815086
109positive regulation of dendritic spine morphogenesis (GO:0061003)2.56796211
110regulation of cell proliferation involved in kidney development (GO:1901722)2.56412886
111cell adhesion mediated by integrin (GO:0033627)2.56079630
112chaperone-mediated protein complex assembly (GO:0051131)2.55553061
113intraciliary transport (GO:0042073)2.52680447
114synaptic vesicle maturation (GO:0016188)2.50830720
115neuron recognition (GO:0008038)2.50755640
116urinary tract smooth muscle contraction (GO:0014848)2.50216648
117synapse assembly (GO:0007416)2.48668147
118cilium organization (GO:0044782)2.48524015
119nonmotile primary cilium assembly (GO:0035058)2.48322602
120response to dietary excess (GO:0002021)2.46579333
121regulation of glutamate receptor signaling pathway (GO:1900449)2.46414138
122protein hydroxylation (GO:0018126)2.45139140
123regulation of hippo signaling (GO:0035330)2.44948245
124regulation of cilium assembly (GO:1902017)2.44517668
125collecting duct development (GO:0072044)2.43669590
126negative regulation of oligodendrocyte differentiation (GO:0048715)2.42464374
127cilium assembly (GO:0042384)2.42309491
128cellular component assembly involved in morphogenesis (GO:0010927)2.42201668
129multicellular organismal water homeostasis (GO:0050891)2.41752701
130DNA double-strand break processing (GO:0000729)2.40717917
131polyol catabolic process (GO:0046174)2.40496584
132keratinocyte proliferation (GO:0043616)2.40246446
133regulation of synaptic vesicle exocytosis (GO:2000300)2.40196754
134DNA integration (GO:0015074)2.39855368
135epidermis development (GO:0008544)2.38432867
136protein depolymerization (GO:0051261)2.38245229
137heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.38215594
138axoneme assembly (GO:0035082)2.36788628
139vocalization behavior (GO:0071625)2.36431901
140positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.36422705
141negative regulation of keratinocyte proliferation (GO:0010839)2.35363018
142meiotic cell cycle (GO:0051321)2.35165504
143central nervous system projection neuron axonogenesis (GO:0021952)2.33596562
144nucleus organization (GO:0006997)2.33030661
145regulation of synaptic vesicle transport (GO:1902803)2.32838522
146establishment of mitochondrion localization (GO:0051654)2.31892602
147gap junction assembly (GO:0016264)2.31737448
148ATP hydrolysis coupled proton transport (GO:0015991)2.31612435
149energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.31612435
150cellular potassium ion homeostasis (GO:0030007)2.31208782
151limb bud formation (GO:0060174)2.30959215
152GMP metabolic process (GO:0046037)2.30715383
153synaptic transmission, glutamatergic (GO:0035249)2.30713293
154ribonucleoprotein complex disassembly (GO:0032988)2.30346648
155regulation of interleukin-8 secretion (GO:2000482)2.30346521
156hair cell differentiation (GO:0035315)2.29433412
157spliceosomal tri-snRNP complex assembly (GO:0000244)2.29406864
158regulation of glomerulus development (GO:0090192)2.29311824
159retina layer formation (GO:0010842)2.28518460
160positive regulation of cell cycle checkpoint (GO:1901978)2.26439028
161regulation of mitochondrial translation (GO:0070129)2.25095032
162sequestering of actin monomers (GO:0042989)2.23148643
163presynaptic membrane assembly (GO:0097105)2.20787251
164lens fiber cell development (GO:0070307)2.20416982
165attachment of spindle microtubules to kinetochore (GO:0008608)2.20381630
166response to lead ion (GO:0010288)2.20042030
167phenol-containing compound catabolic process (GO:0019336)2.19866265
168regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.19332173
169keratinocyte development (GO:0003334)2.19159050
170regulation of mitotic spindle checkpoint (GO:1903504)2.17331774
171regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.17331774
172termination of RNA polymerase III transcription (GO:0006386)2.14894565
173transcription elongation from RNA polymerase III promoter (GO:0006385)2.14894565
174response to pheromone (GO:0019236)2.13684863
175synaptic vesicle endocytosis (GO:0048488)2.11731884
176regulation of respiratory system process (GO:0044065)2.11473861
177positive regulation of protein depolymerization (GO:1901881)2.11129187
178positive regulation of dendrite morphogenesis (GO:0050775)2.10763936
179DNA damage response, detection of DNA damage (GO:0042769)2.10308798
180water homeostasis (GO:0030104)2.10306254
181regulation of spindle checkpoint (GO:0090231)2.10136692
182peptidyl-proline hydroxylation (GO:0019511)2.10067160
183regulation of oligodendrocyte differentiation (GO:0048713)2.09637975
184spliceosomal snRNP assembly (GO:0000387)2.09042555
185RNA localization (GO:0006403)2.08867439
186olfactory bulb development (GO:0021772)2.08585727
187linoleic acid metabolic process (GO:0043651)2.08553353
188retinal ganglion cell axon guidance (GO:0031290)2.08032962
189coenzyme A biosynthetic process (GO:0015937)2.05877963
190mitochondrial fission (GO:0000266)2.04605781
1914-hydroxyproline metabolic process (GO:0019471)2.04151388
192axonal fasciculation (GO:0007413)2.04062620
193central nervous system neuron axonogenesis (GO:0021955)2.03987146
194peroxisome fission (GO:0016559)2.01286972
195cell wall macromolecule catabolic process (GO:0016998)10.8789250
196cell wall macromolecule metabolic process (GO:0044036)10.8789250
197sperm motility (GO:0030317)10.2498197

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.60292008
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse5.92193573
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.29141012
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.24535941
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.22391899
6PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.76896356
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.66878376
8BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.57171363
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.55497528
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.51771781
11REST_21632747_ChIP-Seq_MESCs_Mouse2.37976562
12HIF1A_21447827_ChIP-Seq_MCF-7_Human2.31885682
13TP63_19390658_ChIP-ChIP_HaCaT_Human2.30686636
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.24596805
15ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10354596
16ZNF274_21170338_ChIP-Seq_K562_Hela2.05394793
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.04958569
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.02026069
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.99578717
20* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.96390140
21THAP11_20581084_ChIP-Seq_MESCs_Mouse1.90688121
22CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.86436089
23SALL1_21062744_ChIP-ChIP_HESCs_Human1.85390327
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82863864
25ELK1_19687146_ChIP-ChIP_HELA_Human1.81489738
26GABP_19822575_ChIP-Seq_HepG2_Human1.79064591
27MYC_18555785_ChIP-Seq_MESCs_Mouse1.78405023
28MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.77820039
29RBPJ_22232070_ChIP-Seq_NCS_Mouse1.76835609
30TP53_16413492_ChIP-PET_HCT116_Human1.75401441
31PADI4_21655091_ChIP-ChIP_MCF-7_Human1.73172256
32* RARB_27405468_Chip-Seq_BRAIN_Mouse1.69642734
33GATA1_26923725_Chip-Seq_HPCs_Mouse1.69093529
34CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.68515843
35PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.68054483
36REST_18959480_ChIP-ChIP_MESCs_Mouse1.66939886
37CREB1_15753290_ChIP-ChIP_HEK293T_Human1.59860600
38STAT6_21828071_ChIP-Seq_BEAS2B_Human1.59725751
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.59589156
40EST1_17652178_ChIP-ChIP_JURKAT_Human1.59518344
41FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.58831745
42NOTCH1_21737748_ChIP-Seq_TLL_Human1.58604128
43FLI1_27457419_Chip-Seq_LIVER_Mouse1.56525458
44DCP1A_22483619_ChIP-Seq_HELA_Human1.56337365
45TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.54492408
46KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.52663243
47KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.51817759
48CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.51234493
49MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.51071631
50VDR_22108803_ChIP-Seq_LS180_Human1.50307361
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47362012
52NELFA_20434984_ChIP-Seq_ESCs_Mouse1.46090384
53DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.45635112
54ELK4_26923725_Chip-Seq_MESODERM_Mouse1.44064000
55WDR5_24793694_ChIP-Seq_LNCAP_Human1.43962547
56KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.42454370
57TP53_18474530_ChIP-ChIP_U2OS_Human1.42210438
58TAF15_26573619_Chip-Seq_HEK293_Human1.40126712
59SUZ12_27294783_Chip-Seq_ESCs_Mouse1.39853145
60IGF1R_20145208_ChIP-Seq_DFB_Human1.39519825
61KDM2B_26808549_Chip-Seq_REH_Human1.39102922
62PCGF2_27294783_Chip-Seq_ESCs_Mouse1.38984281
63CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38349925
64XRN2_22483619_ChIP-Seq_HELA_Human1.38329714
65SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.36900747
66RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36189698
67FOXM1_23109430_ChIP-Seq_U2OS_Human1.34270156
68* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.33769209
69KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.33192894
70IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32774296
71CBP_20019798_ChIP-Seq_JUKART_Human1.32774296
72* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.32039654
73RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.30618708
74HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.30483322
75ZFP57_27257070_Chip-Seq_ESCs_Mouse1.29839448
76NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29360916
77EZH2_27294783_Chip-Seq_ESCs_Mouse1.28543273
78GBX2_23144817_ChIP-Seq_PC3_Human1.27116023
79FUS_26573619_Chip-Seq_HEK293_Human1.26933217
80PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.25731519
81CTBP1_25329375_ChIP-Seq_LNCAP_Human1.25421221
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24978188
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.24978188
84FLI1_21867929_ChIP-Seq_TH2_Mouse1.24942602
85FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24711465
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.24704235
87GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.24689977
88TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24238189
89TTF2_22483619_ChIP-Seq_HELA_Human1.23299610
90SOX9_26525672_Chip-Seq_HEART_Mouse1.22158353
91ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.21745793
92SOX17_20123909_ChIP-Seq_XEN_Mouse1.21324627
93MYC_18940864_ChIP-ChIP_HL60_Human1.19707305
94TP53_22127205_ChIP-Seq_IMR90_Human1.19352102
95P63_26484246_Chip-Seq_KERATINOCYTES_Human1.16431128
96IKZF1_21737484_ChIP-ChIP_HCT116_Human1.16343275
97PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16135837
98KDM5A_27292631_Chip-Seq_BREAST_Human1.16032129
99SOX2_22085726_ChIP-Seq_NPCs_Mouse1.15779329
100YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13622002
101DROSHA_22980978_ChIP-Seq_HELA_Human1.13267346
102ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12864082
103MYC_18358816_ChIP-ChIP_MESCs_Mouse1.12416413
104MYCN_18555785_ChIP-Seq_MESCs_Mouse1.11903206
105POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.10780591
106SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.10579190
107MYC_19030024_ChIP-ChIP_MESCs_Mouse1.10068072
108NANOG_18555785_Chip-Seq_ESCs_Mouse1.09533547
109STAT1_17558387_ChIP-Seq_HELA_Human1.09401256
110GATA3_21867929_ChIP-Seq_TH1_Mouse1.08658260
111SMAD3_21741376_ChIP-Seq_ESCs_Human1.07680682
112TAL1_26923725_Chip-Seq_HPCs_Mouse1.07645656
113E2F1_18555785_ChIP-Seq_MESCs_Mouse1.07177241
114SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.07030120
115SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.06899437
116SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.06899437
117RNF2_27304074_Chip-Seq_NSC_Mouse1.05730032
118MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05672228
119SMAD4_21799915_ChIP-Seq_A2780_Human1.05562965
120CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.05474826
121SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.05322012
122POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.04884553
123CJUN_26792858_Chip-Seq_BT549_Human1.04855107
124P53_21459846_ChIP-Seq_SAOS-2_Human1.04782572
125GATA3_21867929_ChIP-Seq_CD8_Mouse1.04737917
126ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.04161039
127AR_21909140_ChIP-Seq_LNCAP_Human1.03884107
128ELK1_22589737_ChIP-Seq_MCF10A_Human1.03655414
129SOX2_16153702_ChIP-ChIP_HESCs_Human1.03505954
130EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.03087516
131MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02855562
132RUNX1_26923725_Chip-Seq_HPCs_Mouse1.01957782
133FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01112342
134FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.00186038
135POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99777506
136CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99673648
137GF1_26923725_Chip-Seq_HPCs_Mouse0.99073586
138DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.97829075
139* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.97497106
140EWS_26573619_Chip-Seq_HEK293_Human0.97326282
141RNF2_27304074_Chip-Seq_ESCs_Mouse0.96756351
142NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.96428419
143* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.95667613
144SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95139897
145AR_25329375_ChIP-Seq_VCAP_Human0.93654683
146CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93619395
147MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.93603651
148MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93152944
149P53_22387025_ChIP-Seq_ESCs_Mouse0.92820570
150PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.92437682
151GATA1_19941827_ChIP-Seq_MEL86_Mouse0.92026018
152CMYC_18555785_Chip-Seq_ESCs_Mouse0.91850935
153TCF4_23295773_ChIP-Seq_U87_Human0.90611172
154EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.90348794
155NANOG_16153702_ChIP-ChIP_HESCs_Human0.90119130
156* ATF3_27146783_Chip-Seq_COLON_Human0.90076403
157SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.89722283
158RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89665726
159TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.89527945
160OCT1_27270436_Chip-Seq_PROSTATE_Human0.89505516
161SMAD3_21741376_ChIP-Seq_EPCs_Human0.88684072
162EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.88642119
163UBF1/2_26484160_Chip-Seq_HMECs_Human0.88436231
164CTCF_27219007_Chip-Seq_Bcells_Human0.87958929
165ZNF263_19887448_ChIP-Seq_K562_Human0.87595904
166LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.86805038
167NFE2_27457419_Chip-Seq_LIVER_Mouse0.86613556
168EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.85557294
169YY1_22570637_ChIP-Seq_MALME-3M_Human0.84744633
170CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.84438697
171* SOX2_21211035_ChIP-Seq_LN229_Human0.84208695
172ELF1_20517297_ChIP-Seq_JURKAT_Human0.84056379
173SOX2_18555785_Chip-Seq_ESCs_Mouse0.83770602
174CTCF_20526341_ChIP-Seq_ESCs_Human0.83608018
175AR_21572438_ChIP-Seq_LNCaP_Human0.83531134
176VDR_23849224_ChIP-Seq_CD4+_Human0.83307510
177P300_19829295_ChIP-Seq_ESCs_Human0.82756383
178* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.82514170
179PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.82488792
180P53_22127205_ChIP-Seq_FIBROBLAST_Human0.80620219
181ZFX_18555785_ChIP-Seq_MESCs_Mouse0.80096278
182REST_19997604_ChIP-ChIP_NEURONS_Mouse0.79011536

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.36287502
2MP0003698_abnormal_male_reproductive4.10505264
3MP0002796_impaired_skin_barrier4.02424467
4MP0001929_abnormal_gametogenesis3.71412138
5MP0008877_abnormal_DNA_methylation3.14989467
6MP0000579_abnormal_nail_morphology3.14810360
7MP0003880_abnormal_central_pattern3.08663865
8MP0000647_abnormal_sebaceous_gland2.72921707
9MP0005501_abnormal_skin_physiology2.66043252
10MP0003635_abnormal_synaptic_transmissio2.62647295
11MP0004270_analgesia2.46974220
12MP0010678_abnormal_skin_adnexa2.45998821
13MP0002098_abnormal_vibrissa_morphology2.36967869
14MP0002653_abnormal_ependyma_morphology2.36710492
15MP0000566_synostosis2.34267056
16MP0002161_abnormal_fertility/fecundity2.33315834
17MP0009053_abnormal_anal_canal2.32680658
18MP0001968_abnormal_touch/_nociception2.28313107
19MP0003646_muscle_fatigue2.20894808
20MP0002210_abnormal_sex_determination2.17072870
21MP0002736_abnormal_nociception_after2.15666102
22MP0009046_muscle_twitch2.15618819
23MP0000383_abnormal_hair_follicle2.13381508
24MP0000537_abnormal_urethra_morphology2.09052859
25MP0002063_abnormal_learning/memory/cond2.01131729
26MP0005410_abnormal_fertilization10.2371505
27MP0004233_abnormal_muscle_weight1.90325712
28MP0009745_abnormal_behavioral_response1.85135122
29MP0001145_abnormal_male_reproductive1.84244499
30MP0001984_abnormal_olfaction1.79294896
31MP0005423_abnormal_somatic_nervous1.72187574
32MP0000427_abnormal_hair_cycle1.72064498
33MP0008789_abnormal_olfactory_epithelium1.71307109
34MP0000653_abnormal_sex_gland1.69025231
35MP0002572_abnormal_emotion/affect_behav1.65179270
36MP0002064_seizures1.64285657
37MP0003315_abnormal_perineum_morphology1.62775543
38MP0001216_abnormal_epidermal_layer1.62039779
39MP0000467_abnormal_esophagus_morphology1.61439706
40MP0002734_abnormal_mechanical_nocicepti1.60120871
41MP0010771_integument_phenotype1.58019681
42MP0005394_taste/olfaction_phenotype1.57705024
43MP0005499_abnormal_olfactory_system1.57705024
44MP0002234_abnormal_pharynx_morphology1.57452659
45MP0002877_abnormal_melanocyte_morpholog1.56819233
46MP0010030_abnormal_orbit_morphology1.54833976
47MP0002272_abnormal_nervous_system1.52666448
48MP0000762_abnormal_tongue_morphology1.51479022
49MP0003329_amyloid_beta_deposits1.47118052
50MP0002233_abnormal_nose_morphology1.43547118
51MP0004036_abnormal_muscle_relaxation1.43488347
52MP0000377_abnormal_hair_follicle1.41714164
53MP0001286_abnormal_eye_development1.41622765
54MP0003656_abnormal_erythrocyte_physiolo1.40217616
55MP0002735_abnormal_chemical_nociception1.40213678
56MP0002837_dystrophic_cardiac_calcinosis1.37006246
57MP0002177_abnormal_outer_ear1.35952637
58MP0004811_abnormal_neuron_physiology1.35419391
59MP0004145_abnormal_muscle_electrophysio1.35270479
60MP0001293_anophthalmia1.35162944
61MP0003879_abnormal_hair_cell1.35003848
62MP0003950_abnormal_plasma_membrane1.33262458
63MP0003937_abnormal_limbs/digits/tail_de1.32244062
64MP0005248_abnormal_Harderian_gland1.31673750
65MP0003693_abnormal_embryo_hatching1.31584283
66MP0005551_abnormal_eye_electrophysiolog1.29568813
67MP0003755_abnormal_palate_morphology1.26831714
68MP0003385_abnormal_body_wall1.26528802
69MP0003941_abnormal_skin_development1.26175388
70MP0000534_abnormal_ureter_morphology1.25859859
71MP0003787_abnormal_imprinting1.23363370
72MP0005646_abnormal_pituitary_gland1.23239944
73MP0005367_renal/urinary_system_phenotyp1.19728320
74MP0000516_abnormal_urinary_system1.19728320
75MP0001529_abnormal_vocalization1.19596897
76MP0002067_abnormal_sensory_capabilities1.18913996
77MP0004147_increased_porphyrin_level1.18417011
78MP0003136_yellow_coat_color1.17190185
79MP0003718_maternal_effect1.17132813
80MP0002697_abnormal_eye_size1.16443429
81MP0001486_abnormal_startle_reflex1.15952729
82MP0008569_lethality_at_weaning1.14064324
83MP0010386_abnormal_urinary_bladder1.13976717
84MP0003453_abnormal_keratinocyte_physiol1.13197686
85MP0006072_abnormal_retinal_apoptosis1.12158689
86MP0004185_abnormal_adipocyte_glucose1.09957763
87MP0001905_abnormal_dopamine_level1.08375886
88MP0000751_myopathy1.07287092
89MP0001188_hyperpigmentation1.06844653
90MP0002269_muscular_atrophy1.06120550
91MP0008932_abnormal_embryonic_tissue1.05151184
92MP0001340_abnormal_eyelid_morphology1.05082627
93MP0005623_abnormal_meninges_morphology1.03650331
94MP0002092_abnormal_eye_morphology1.02729408
95MP0001765_abnormal_ion_homeostasis1.01334390
96MP0001299_abnormal_eye_distance/1.00766958
97MP0008260_abnormal_autophagy0.99898611
98MP0000049_abnormal_middle_ear0.99805155
99MP0002111_abnormal_tail_morphology0.98740323
100MP0004085_abnormal_heartbeat0.97997125
101MP0001346_abnormal_lacrimal_gland0.96956611
102MP0002009_preneoplasia0.96793188
103MP0006054_spinal_hemorrhage0.95198859
104MP0005275_abnormal_skin_tensile0.95194723
105MP0000955_abnormal_spinal_cord0.94006676
106MP0004084_abnormal_cardiac_muscle0.92582661
107MP0002184_abnormal_innervation0.92090232
108MP0003942_abnormal_urinary_system0.92000253
109MP0002882_abnormal_neuron_morphology0.91831032
110MP0002733_abnormal_thermal_nociception0.90187550
111MP0001270_distended_abdomen0.89419499
112MP0001440_abnormal_grooming_behavior0.88066330
113MP0002822_catalepsy0.87458044
114MP0004197_abnormal_fetal_growth/weight/0.87092908
115MP0002557_abnormal_social/conspecific_i0.86890104
116MP0002909_abnormal_adrenal_gland0.86215791
117MP0004264_abnormal_extraembryonic_tissu0.86059808
118MP0004272_abnormal_basement_membrane0.85806519
119MP0002152_abnormal_brain_morphology0.85673810
120MP0005197_abnormal_uvea_morphology0.85501919
121MP0004215_abnormal_myocardial_fiber0.85348533
122MP0002060_abnormal_skin_morphology0.84124080
123MP0001970_abnormal_pain_threshold0.83640038
124MP0005257_abnormal_intraocular_pressure0.83029471
125MP0004924_abnormal_behavior0.82721930
126MP0005386_behavior/neurological_phenoty0.82721930
127MP0002160_abnormal_reproductive_system0.81366110
128MP0002066_abnormal_motor_capabilities/c0.81319705
129MP0001502_abnormal_circadian_rhythm0.81032366
130MP0001501_abnormal_sleep_pattern0.78926159
131MP0002249_abnormal_larynx_morphology0.78669179
132MP0006276_abnormal_autonomic_nervous0.77735407
133MP0000749_muscle_degeneration0.77495793
134MP0003123_paternal_imprinting0.77202299
135MP0002102_abnormal_ear_morphology0.76003905
136MP0006035_abnormal_mitochondrial_morpho0.75657654
137MP0004510_myositis0.75405340
138MP0005391_vision/eye_phenotype0.74643308
139MP0000569_abnormal_digit_pigmentation0.74611883
140MP0004782_abnormal_surfactant_physiolog0.73714410
141MP0000358_abnormal_cell_content/0.73128411
142MP0001191_abnormal_skin_condition0.73097148
143MP0005253_abnormal_eye_physiology0.72586653
144MP0002229_neurodegeneration0.72337003
145MP0008058_abnormal_DNA_repair0.72136000
146MP0005620_abnormal_muscle_contractility0.72126126
147MP0002081_perinatal_lethality0.71366077
148MP0003633_abnormal_nervous_system0.70298768
149MP0004133_heterotaxia0.70006856
150MP0003122_maternal_imprinting0.69886049
151MP0003938_abnormal_ear_development0.69871952
152MP0000631_abnormal_neuroendocrine_gland0.69598021
153MP0003631_nervous_system_phenotype0.68897291
154MP0005670_abnormal_white_adipose0.67171742
155MP0001727_abnormal_embryo_implantation0.66453070
156MP0000778_abnormal_nervous_system0.66198321
157MP0003119_abnormal_digestive_system0.66024255
158MP0003121_genomic_imprinting0.65905610
159MP0003861_abnormal_nervous_system0.65904219
160MP0000750_abnormal_muscle_regeneration0.64873686
161MP0008057_abnormal_DNA_replication0.64533325
162MP0001324_abnormal_eye_pigmentation0.64511780
163MP0002106_abnormal_muscle_physiology0.62778923
164MP0002752_abnormal_somatic_nervous0.60651967
165MP0004484_altered_response_of0.60570463
166MP0004885_abnormal_endolymph0.58531467
167MP0010094_abnormal_chromosome_stability0.58241508
168MP0005187_abnormal_penis_morphology0.57367589
169MP0000747_muscle_weakness0.56608140
170MP0006292_abnormal_olfactory_placode0.55634705
171MP0006036_abnormal_mitochondrial_physio0.55303053
172MP0002928_abnormal_bile_duct0.54190444
173MP0002282_abnormal_trachea_morphology0.53382501
174MP0000759_abnormal_skeletal_muscle0.53244077
175MP0010234_abnormal_vibrissa_follicle0.52336262
176MP0004808_abnormal_hematopoietic_stem0.51476622

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)9.75859266
2Dynein arm defect of respiratory motile cilia (HP:0012255)9.75859266
3Abnormal respiratory motile cilium physiology (HP:0012261)7.06543640
4Abnormal respiratory motile cilium morphology (HP:0005938)6.74155765
5Abnormal respiratory epithelium morphology (HP:0012253)6.74155765
6Rhinitis (HP:0012384)6.11931508
7Chronic bronchitis (HP:0004469)5.86488549
8Abnormal ciliary motility (HP:0012262)5.54763071
9Infertility (HP:0000789)5.33928737
10Abnormality of nail color (HP:0100643)5.16241160
11Nasal polyposis (HP:0100582)4.06860389
12Bronchitis (HP:0012387)3.67463762
13Erythroderma (HP:0001019)3.66485574
14Nephronophthisis (HP:0000090)3.64893966
15Palmar hyperkeratosis (HP:0010765)3.52693960
16Abnormality of the nasal mucosa (HP:0000433)3.49584826
17Male infertility (HP:0003251)3.48992158
18Palmoplantar hyperkeratosis (HP:0000972)3.47054882
19Focal motor seizures (HP:0011153)3.35219213
20Bronchiectasis (HP:0002110)3.27770542
2111 pairs of ribs (HP:0000878)3.27699128
22Plantar hyperkeratosis (HP:0007556)3.18560164
23Congenital ichthyosiform erythroderma (HP:0007431)3.18506082
24Abnormal gallbladder physiology (HP:0012438)3.17343687
25Cholecystitis (HP:0001082)3.17343687
26Onycholysis (HP:0001806)3.02318923
27Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.90566213
28Medial flaring of the eyebrow (HP:0010747)2.86240607
29Recurrent otitis media (HP:0000403)2.77187323
30Termporal pattern (HP:0011008)2.76445638
31Insidious onset (HP:0003587)2.76445638
32Parakeratosis (HP:0001036)2.73031015
33Alopecia of scalp (HP:0002293)2.72260243
34Visual hallucinations (HP:0002367)2.72139845
35Epileptic encephalopathy (HP:0200134)2.70185940
36Myokymia (HP:0002411)2.66457742
37Fragile nails (HP:0001808)2.65865746
38Urinary urgency (HP:0000012)2.61558446
39True hermaphroditism (HP:0010459)2.60595947
40Abnormality of the renal medulla (HP:0100957)2.58475074
41Molar tooth sign on MRI (HP:0002419)2.50291247
42Abnormality of midbrain morphology (HP:0002418)2.50291247
43Exercise-induced myalgia (HP:0003738)2.49324422
44High anterior hairline (HP:0009890)2.49011170
45Abnormality of the heme biosynthetic pathway (HP:0010472)2.48998590
46Thick nail (HP:0001805)2.46571504
47Recurrent sinusitis (HP:0011108)2.45939537
48Absent eyelashes (HP:0000561)2.40280870
49Erythema (HP:0010783)2.36087202
50Focal seizures (HP:0007359)2.35780862
51Abnormality of the lower motor neuron (HP:0002366)2.35102784
52Gait imbalance (HP:0002141)2.28675492
53Abnormal spermatogenesis (HP:0008669)2.27699000
54Ectropion (HP:0000656)2.25946096
55Impaired smooth pursuit (HP:0007772)2.25521986
56Abnormality of ocular smooth pursuit (HP:0000617)2.24846524
57Sclerocornea (HP:0000647)2.23941472
58Drooling (HP:0002307)2.22211546
59Aplasia/Hypoplasia of the tongue (HP:0010295)2.21490943
60Recurrent bronchitis (HP:0002837)2.21447237
61Absent speech (HP:0001344)2.20284300
62Hypoplasia of the capital femoral epiphysis (HP:0003090)2.18503210
63Delusions (HP:0000746)2.14556770
64Congenital primary aphakia (HP:0007707)2.14327966
65Atonic seizures (HP:0010819)2.13956696
66Corneal erosion (HP:0200020)2.13553465
67Nail dystrophy (HP:0008404)2.11854387
68Impaired vibration sensation in the lower limbs (HP:0002166)2.11371734
69Lissencephaly (HP:0001339)2.10785992
70Gaze-evoked nystagmus (HP:0000640)2.10250011
71Preaxial hand polydactyly (HP:0001177)2.08172057
72Occipital encephalocele (HP:0002085)2.04983025
73Furrowed tongue (HP:0000221)2.04570421
74Progressive cerebellar ataxia (HP:0002073)2.04126626
75Dysmetric saccades (HP:0000641)2.03018880
76Bifid tongue (HP:0010297)2.02989289
77Exercise-induced muscle cramps (HP:0003710)2.02445138
78Bundle branch block (HP:0011710)2.00119403
79Respiratory insufficiency due to defective ciliary clearance (HP:0200073)10.0928348
80Short nail (HP:0001799)1.98746777
81Hemiparesis (HP:0001269)1.98147670
82Sparse eyelashes (HP:0000653)1.97691005
83Missing ribs (HP:0000921)1.97308606
84Autoamputation (HP:0001218)1.96838252
85Cortical dysplasia (HP:0002539)1.96702382
86Abnormality of the distal phalanges of the toes (HP:0010182)1.96682845
87Abnormality of hair growth rate (HP:0011363)1.94257181
88Slow-growing hair (HP:0002217)1.94257181
89Truncal ataxia (HP:0002078)1.91812113
90Hypotrichosis (HP:0001006)1.88948729
91Excessive salivation (HP:0003781)1.87548280
92Heterotopia (HP:0002282)1.87029441
93Abnormality of the intervertebral disk (HP:0005108)1.85874266
94Trigonocephaly (HP:0000243)1.85418161
95Deviation of the thumb (HP:0009603)1.84073726
96Sparse scalp hair (HP:0002209)1.83740115
97Hyperventilation (HP:0002883)1.83409454
98Tubular atrophy (HP:0000092)1.83203377
99Aplasia/Hypoplasia of the brainstem (HP:0007362)1.83049228
100Hypoplasia of the brainstem (HP:0002365)1.83049228
101Synostosis involving the elbow (HP:0003938)1.82843673
102Humeroradial synostosis (HP:0003041)1.82843673
103Pancreatic cysts (HP:0001737)1.82659974
104Choroideremia (HP:0001139)1.82363671
105Cerebral inclusion bodies (HP:0100314)1.80495946
106Upper limb muscle weakness (HP:0003484)1.80117582
107Proximal placement of thumb (HP:0009623)1.79058972
108Optic nerve hypoplasia (HP:0000609)1.78369236
109Short tibia (HP:0005736)1.76746695
110Asymmetric septal hypertrophy (HP:0001670)1.76199015
111Concave nail (HP:0001598)1.76139067
112Chronic hepatic failure (HP:0100626)1.76049237
113Aplasia/Hypoplasia of the lens (HP:0008063)1.75662584
114Nephrogenic diabetes insipidus (HP:0009806)1.75432557
115Absent hair (HP:0002298)1.75045435
116Broad alveolar ridges (HP:0000187)1.74776823
117Urinary bladder sphincter dysfunction (HP:0002839)1.73834468
118Dyschromatopsia (HP:0007641)1.73286653
119Split foot (HP:0001839)1.71798443
120Multiple enchondromatosis (HP:0005701)1.71375029
121Adrenal hypoplasia (HP:0000835)1.71094427
122Hypohidrosis (HP:0000966)1.71045610
123Pancreatic fibrosis (HP:0100732)1.70345108
124Depression (HP:0000716)1.70080062
125Tubulointerstitial nephritis (HP:0001970)1.69955648
126Hip dysplasia (HP:0001385)1.69931413
127Anencephaly (HP:0002323)1.69368413
128Chronic sinusitis (HP:0011109)1.68660496
129Decreased central vision (HP:0007663)1.66749491
130Generalized tonic-clonic seizures (HP:0002069)1.66700655
131Thickened helices (HP:0000391)1.66627856
132Genital tract atresia (HP:0001827)1.66329377
133Febrile seizures (HP:0002373)1.66065350
134Neonatal respiratory distress (HP:0002643)1.64697214
135Postaxial foot polydactyly (HP:0001830)1.64335269
136Congenital malformation of the right heart (HP:0011723)1.64226670
137Double outlet right ventricle (HP:0001719)1.64226670
138Aplasia/Hypoplasia of the tibia (HP:0005772)1.63582348
139Neoplasm of the heart (HP:0100544)1.63135545
140Vaginal atresia (HP:0000148)1.62254143
141Postural instability (HP:0002172)1.61665983
142Amblyopia (HP:0000646)1.61306651
143Type II lissencephaly (HP:0007260)1.60599160
144Large earlobe (HP:0009748)1.60484504
145Constricted visual fields (HP:0001133)1.60025723
146Hypoplastic pelvis (HP:0008839)1.59923944
147Severe muscular hypotonia (HP:0006829)1.59263046
148Intellectual disability, moderate (HP:0002342)1.58976563
149Central scotoma (HP:0000603)1.58578851
150Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.58567788
151Absent epiphyses (HP:0010577)1.58567788
152Optic nerve coloboma (HP:0000588)1.58439388
153Retinal dysplasia (HP:0007973)1.57801311
154Insomnia (HP:0100785)1.57535293
155Absence seizures (HP:0002121)1.57476660
156Pterygium (HP:0001059)1.57171969
157Recurrent corneal erosions (HP:0000495)1.56953695
158Paraplegia (HP:0010550)1.55402883
159Tubulointerstitial abnormality (HP:0001969)1.55379767
160Oral leukoplakia (HP:0002745)1.54570038
161Limb ataxia (HP:0002070)1.54347612
162Esophageal atresia (HP:0002032)1.54268094
163Spastic diplegia (HP:0001264)1.53821699
164Papillary thyroid carcinoma (HP:0002895)1.52577456
165Abnormality of placental membranes (HP:0011409)1.50994014
166Amniotic constriction ring (HP:0009775)1.50994014
167Absent eyebrow (HP:0002223)1.50905878
168Hand muscle atrophy (HP:0009130)1.50823189
169Microglossia (HP:0000171)1.50806942
170Iris coloboma (HP:0000612)1.49531181
171Polymicrogyria (HP:0002126)1.49402334
172Amyotrophic lateral sclerosis (HP:0007354)1.49282240
173Exotropia (HP:0000577)1.48692064
174EMG: neuropathic changes (HP:0003445)1.48438051
175Ankle clonus (HP:0011448)1.47884199
176Fatigable weakness (HP:0003473)1.46819251
177Abnormality of the neuromuscular junction (HP:0003398)1.46819251
178Postaxial hand polydactyly (HP:0001162)1.46730793
179Decreased electroretinogram (ERG) amplitude (HP:0000654)1.46401803
180Poor coordination (HP:0002370)1.44531553
181Abnormality of permanent molar morphology (HP:0011071)1.43861613
182Abnormality of the dental root (HP:0006486)1.43861613
183Taurodontia (HP:0000679)1.43861613
184Oculomotor apraxia (HP:0000657)1.43723495
185Abnormality of macular pigmentation (HP:0008002)1.43187480
186Supernumerary spleens (HP:0009799)1.43080750
187Abnormality of saccadic eye movements (HP:0000570)1.42959602
188Impaired vibratory sensation (HP:0002495)1.41986296
189Poikilocytosis (HP:0004447)1.41197743

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK45.98109732
2PDK35.98109732
3PRKD35.06084516
4MAP3K124.39191119
5EPHA23.59709084
6TESK13.55848967
7PDK23.45357256
8TRIM283.42630609
9EPHB23.21167909
10BCR3.16976134
11EPHA43.04603224
12CAMK1D2.59713389
13ICK2.49062413
14MAP3K92.46497247
15PTK2B2.41922348
16NTRK32.35771647
17MST1R2.34337149
18PBK2.18735658
19KSR21.98622790
20WNK31.93818935
21MAP3K41.88142234
22CASK1.81420122
23BCKDK1.79938416
24PNCK1.71990759
25RIPK41.71895206
26BUB11.61625102
27MAP2K71.56313381
28ARAF1.55027589
29STK381.54155496
30TESK21.48894760
31EPHA31.44838225
32CSNK1A1L1.43897719
33BRD41.41363748
34KSR11.38358110
35MAP3K101.37859339
36CSNK1G31.33392425
37BRSK21.32533462
38CCNB11.30250219
39PAK61.28834808
40LIMK11.26007404
41ERBB41.24913261
42MET1.23948528
43MINK11.23678693
44SRPK11.20690043
45PDK11.17896142
46MAP3K111.13954567
47CDK81.13765901
48CSNK1G11.09935008
49EEF2K1.09051035
50PIM21.07621343
51DAPK21.07407038
52MUSK1.07270740
53DYRK1B1.06660318
54DYRK31.02864355
55OBSCN1.01416736
56BRAF0.99005212
57ERBB30.98280997
58NEK10.98019824
59MAPK130.96981832
60TYRO30.96403639
61CSNK1G20.96014061
62RAF10.93244974
63DYRK20.93041191
64MARK10.92369753
65BRSK10.91960127
66TSSK60.91888075
67MAP3K130.89659806
68NEK20.89316023
69WNK40.88862060
70NTRK20.88524415
71PLK20.86098112
72FER0.85305129
73PTK20.83883970
74MAP2K40.83623489
75MAP3K60.79365747
76PRKCG0.78466025
77PAK40.76599040
78FGFR10.76533836
79PRKCE0.75596831
80PRPF4B0.75097254
81CDK50.72695635
82PLK40.71610826
83CAMKK10.71313407
84CHEK20.70702367
85CDK180.70678475
86CDK90.70527624
87PLK30.70448805
88GRK50.70245271
89CDK150.69765909
90DAPK10.69507201
91TAOK10.66833035
92LATS10.66478066
93PDPK10.64020381
94LATS20.63175197
95AURKB0.62760515
96STK390.62574887
97NTRK10.62324458
98CDK140.62296652
99RET0.62155683
100CAMK10.61438414
101FLT30.61245728
102PKN10.60096662
103MARK30.59600994
104PLK10.59573085
105RPS6KA40.59050221
106CDK11A0.58443201
107MOS0.57648117
108CDK190.57020562
109CDK70.55357001
110MARK20.53946059
111LMTK20.52895727
112GRK60.52600757
113STK160.51712299
114CAMK2A0.49814642
115ZAK0.47196861
116SIK30.47135360
117MAP3K10.45151091
118MAP3K20.44856888
119VRK20.44669494
120MTOR0.43921703
121FES0.43245107
122AKT20.41820585
123AURKA0.41659004
124DYRK1A0.39582498
125PRKCI0.39167013
126CAMK40.38950745
127TTK0.38550958
128BMPR20.38538389
129PRKD20.38080801
130MAP2K10.35775814
131CAMK1G0.34916524
132ATM0.33891892
133MAPK90.33446817
134CHEK10.32983589
135DAPK30.32483862
136PRKCH0.32212691
137NME10.32005592
138STK38L0.31628857
139CSNK1A10.31348881
140CDK120.31216614
141SYK0.31091127
142MAPKAPK50.31002841
143ATR0.30565020
144CAMKK20.30315626
145PKN20.28869387
146TNIK0.28139479
147PAK10.27463715
148PRKAA10.27423127
149PINK10.26447557
150SIK20.25300843
151PRKCZ0.24830011
152CDC70.24448520
153UHMK10.23458035
154STK110.22879067
155TRIB30.22377716
156WNK10.21617685
157MAP3K50.21507614
158CDK30.21462800
159MAP2K60.20823051
160RPS6KB10.20416025
161PHKG20.18730295
162PHKG10.18730295
163FGR0.17487734

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.72670339
2Steroid biosynthesis_Homo sapiens_hsa001002.71194752
3Long-term potentiation_Homo sapiens_hsa047202.65044038
4Amphetamine addiction_Homo sapiens_hsa050312.63027302
5RNA polymerase_Homo sapiens_hsa030202.61309301
6Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.55580248
7Olfactory transduction_Homo sapiens_hsa047402.51884577
8Circadian entrainment_Homo sapiens_hsa047132.40411895
9Nicotine addiction_Homo sapiens_hsa050332.37403005
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.28997393
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.20269757
12Oocyte meiosis_Homo sapiens_hsa041142.11964869
13Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.10823622
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.02755917
15Fatty acid elongation_Homo sapiens_hsa000622.01426565
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.00431570
17Insulin secretion_Homo sapiens_hsa049111.97618925
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.95932147
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95281229
20Glutamatergic synapse_Homo sapiens_hsa047241.93824604
21Glucagon signaling pathway_Homo sapiens_hsa049221.90792014
22Dopaminergic synapse_Homo sapiens_hsa047281.88187498
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.86820719
24Salivary secretion_Homo sapiens_hsa049701.82501514
25Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.81820819
26Cardiac muscle contraction_Homo sapiens_hsa042601.79103455
27Morphine addiction_Homo sapiens_hsa050321.77236418
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67784972
29Renin secretion_Homo sapiens_hsa049241.66776130
30Collecting duct acid secretion_Homo sapiens_hsa049661.64606123
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.64357649
32Oxytocin signaling pathway_Homo sapiens_hsa049211.57335522
33Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54859373
34GABAergic synapse_Homo sapiens_hsa047271.54782844
35Carbohydrate digestion and absorption_Homo sapiens_hsa049731.53431313
36Calcium signaling pathway_Homo sapiens_hsa040201.52928464
37Gastric acid secretion_Homo sapiens_hsa049711.51832726
38Alcoholism_Homo sapiens_hsa050341.51177445
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.49697912
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49382116
41Base excision repair_Homo sapiens_hsa034101.44356296
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.41437838
43Taste transduction_Homo sapiens_hsa047421.39788100
44RNA transport_Homo sapiens_hsa030131.38910257
45Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.37394144
46Cholinergic synapse_Homo sapiens_hsa047251.35431373
47Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.35025219
48Pyrimidine metabolism_Homo sapiens_hsa002401.34932210
49Estrogen signaling pathway_Homo sapiens_hsa049151.34520073
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.31835282
51Pyruvate metabolism_Homo sapiens_hsa006201.30945594
52Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26458105
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.24182992
54Fructose and mannose metabolism_Homo sapiens_hsa000511.23455732
55Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.20049367
56Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.18260686
57Dorso-ventral axis formation_Homo sapiens_hsa043201.17698415
58Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16490063
59Hippo signaling pathway_Homo sapiens_hsa043901.15086052
60Vascular smooth muscle contraction_Homo sapiens_hsa042701.13631827
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.12309620
62GnRH signaling pathway_Homo sapiens_hsa049121.10583889
63cAMP signaling pathway_Homo sapiens_hsa040241.08888096
64Linoleic acid metabolism_Homo sapiens_hsa005911.06457153
65Serotonergic synapse_Homo sapiens_hsa047261.06117769
66Glioma_Homo sapiens_hsa052141.05937747
67Phototransduction_Homo sapiens_hsa047441.05924374
68Systemic lupus erythematosus_Homo sapiens_hsa053221.04443859
69Notch signaling pathway_Homo sapiens_hsa043301.04289973
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.03593475
71Adherens junction_Homo sapiens_hsa045201.03537712
72Long-term depression_Homo sapiens_hsa047301.03386496
73Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.03306343
74Oxidative phosphorylation_Homo sapiens_hsa001901.03201815
75Cocaine addiction_Homo sapiens_hsa050301.00049324
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.96868763
77Sulfur relay system_Homo sapiens_hsa041220.94407829
78VEGF signaling pathway_Homo sapiens_hsa043700.94382488
79Arginine and proline metabolism_Homo sapiens_hsa003300.93369080
80Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.93028334
81N-Glycan biosynthesis_Homo sapiens_hsa005100.91958479
82Galactose metabolism_Homo sapiens_hsa000520.91258455
83Type II diabetes mellitus_Homo sapiens_hsa049300.91117333
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.90393728
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.89310931
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.88646078
87Non-homologous end-joining_Homo sapiens_hsa034500.87744341
88Pancreatic secretion_Homo sapiens_hsa049720.87133933
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.85162363
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.83572481
91Propanoate metabolism_Homo sapiens_hsa006400.82489700
92Thyroid hormone synthesis_Homo sapiens_hsa049180.81699022
93Basal transcription factors_Homo sapiens_hsa030220.81407233
94Tight junction_Homo sapiens_hsa045300.80285756
95Fatty acid biosynthesis_Homo sapiens_hsa000610.77326183
96Proteasome_Homo sapiens_hsa030500.76867969
97Vitamin B6 metabolism_Homo sapiens_hsa007500.76613488
98Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76553842
99Gap junction_Homo sapiens_hsa045400.76456929
100Carbon metabolism_Homo sapiens_hsa012000.76315993
101Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.75573775
102p53 signaling pathway_Homo sapiens_hsa041150.75126200
103Hedgehog signaling pathway_Homo sapiens_hsa043400.74503343
104Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.73858053
105RNA degradation_Homo sapiens_hsa030180.73318878
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71443440
107Nucleotide excision repair_Homo sapiens_hsa034200.71329216
108Vibrio cholerae infection_Homo sapiens_hsa051100.71290631
109Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.71224320
110ErbB signaling pathway_Homo sapiens_hsa040120.70611530
111Melanogenesis_Homo sapiens_hsa049160.69141331
112Huntingtons disease_Homo sapiens_hsa050160.69124206
113Phospholipase D signaling pathway_Homo sapiens_hsa040720.68824028
114Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.68558036
115Phenylalanine metabolism_Homo sapiens_hsa003600.68227543
116B cell receptor signaling pathway_Homo sapiens_hsa046620.66859207
117Bladder cancer_Homo sapiens_hsa052190.66764352
118Metabolic pathways_Homo sapiens_hsa011000.66759269
119Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.66428807
120Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.65984055
121Shigellosis_Homo sapiens_hsa051310.64751269
122Inositol phosphate metabolism_Homo sapiens_hsa005620.64583448
123Basal cell carcinoma_Homo sapiens_hsa052170.63270626
124Parkinsons disease_Homo sapiens_hsa050120.62671443
125Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61291108
126MAPK signaling pathway_Homo sapiens_hsa040100.60547420
127Ether lipid metabolism_Homo sapiens_hsa005650.60403905
128Dilated cardiomyopathy_Homo sapiens_hsa054140.60358615
129Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59596416
130Fatty acid metabolism_Homo sapiens_hsa012120.58823385
131Insulin signaling pathway_Homo sapiens_hsa049100.58144809
132Endocytosis_Homo sapiens_hsa041440.57912629
133Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56702209
134Lysine degradation_Homo sapiens_hsa003100.55356750
135Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54998991
136Wnt signaling pathway_Homo sapiens_hsa043100.54206249
137Non-small cell lung cancer_Homo sapiens_hsa052230.54185277
138Selenocompound metabolism_Homo sapiens_hsa004500.54139387
139Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52888289
140Spliceosome_Homo sapiens_hsa030400.52047078
141mRNA surveillance pathway_Homo sapiens_hsa030150.51881509
142TGF-beta signaling pathway_Homo sapiens_hsa043500.51581887
143Melanoma_Homo sapiens_hsa052180.51131414
144Pentose phosphate pathway_Homo sapiens_hsa000300.50827581
145Choline metabolism in cancer_Homo sapiens_hsa052310.50721611
146mTOR signaling pathway_Homo sapiens_hsa041500.50046091
147Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49884933
148Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.49376042
149Small cell lung cancer_Homo sapiens_hsa052220.49077811
150Sphingolipid metabolism_Homo sapiens_hsa006000.48742408
151Circadian rhythm_Homo sapiens_hsa047100.48427862
152Glycerolipid metabolism_Homo sapiens_hsa005610.48221079
153Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48014448
154Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.47574182
155AMPK signaling pathway_Homo sapiens_hsa041520.47254288
156HIF-1 signaling pathway_Homo sapiens_hsa040660.47134317
157Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.46848852
158Purine metabolism_Homo sapiens_hsa002300.45984851
159Glutathione metabolism_Homo sapiens_hsa004800.45294802
160Neurotrophin signaling pathway_Homo sapiens_hsa047220.43760784
161Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.43179476
162Biosynthesis of amino acids_Homo sapiens_hsa012300.43163923
163Cell cycle_Homo sapiens_hsa041100.42752218
164Alzheimers disease_Homo sapiens_hsa050100.42435049
165Axon guidance_Homo sapiens_hsa043600.39543337
166Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.38465143
167Ras signaling pathway_Homo sapiens_hsa040140.37519388
168Mismatch repair_Homo sapiens_hsa034300.35926469
169Homologous recombination_Homo sapiens_hsa034400.35052011

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