UBQLN2

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





Description: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.53603009
2synaptic vesicle maturation (GO:0016188)5.49893837
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.43782387
4locomotory exploration behavior (GO:0035641)5.26498505
5pyrimidine nucleobase catabolic process (GO:0006208)5.03705685
6vocalization behavior (GO:0071625)4.96455251
7layer formation in cerebral cortex (GO:0021819)4.92533327
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.79670765
9synaptic vesicle exocytosis (GO:0016079)4.73517308
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.69520261
11establishment of mitochondrion localization (GO:0051654)4.55589429
12glutamate secretion (GO:0014047)4.52664608
13regulation of synaptic vesicle exocytosis (GO:2000300)4.52565169
14neuron cell-cell adhesion (GO:0007158)4.45067344
15regulation of glutamate receptor signaling pathway (GO:1900449)4.37385035
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.32609494
17dendritic spine morphogenesis (GO:0060997)4.30601051
18protein localization to synapse (GO:0035418)4.25717124
19negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.20875582
20exploration behavior (GO:0035640)4.20759006
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.15400979
22neuron recognition (GO:0008038)4.10391016
23proline transport (GO:0015824)4.01462136
24nucleobase catabolic process (GO:0046113)4.01314298
25neurotransmitter secretion (GO:0007269)3.99589612
26regulation of synaptic vesicle transport (GO:1902803)3.97539985
27regulation of neuronal synaptic plasticity (GO:0048168)3.95738735
28synaptic vesicle docking involved in exocytosis (GO:0016081)3.86874137
29glutamate receptor signaling pathway (GO:0007215)3.86258388
30regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.85868196
31regulation of synapse structural plasticity (GO:0051823)3.81846946
32axonal fasciculation (GO:0007413)3.79126051
33neuronal action potential propagation (GO:0019227)3.71730433
34positive regulation of synapse maturation (GO:0090129)3.70099987
35synaptic transmission, glutamatergic (GO:0035249)3.69966988
36neurofilament cytoskeleton organization (GO:0060052)3.68797846
37gamma-aminobutyric acid transport (GO:0015812)3.62865651
38positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.61367251
39positive regulation of mitochondrial fission (GO:0090141)3.51226441
40long-term memory (GO:0007616)3.50381907
41neuron-neuron synaptic transmission (GO:0007270)3.49385866
42cellular potassium ion homeostasis (GO:0030007)3.47068735
43regulation of dendritic spine morphogenesis (GO:0061001)3.43819708
44sodium ion export (GO:0071436)3.40680807
45activation of protein kinase A activity (GO:0034199)3.38946100
46regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.38488167
47mitochondrion transport along microtubule (GO:0047497)3.37793079
48establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.37793079
49synaptic vesicle endocytosis (GO:0048488)3.33512202
50neuromuscular process controlling balance (GO:0050885)3.31282797
51dendrite morphogenesis (GO:0048813)3.31267388
52neurotransmitter transport (GO:0006836)3.29469648
53gamma-aminobutyric acid signaling pathway (GO:0007214)3.28925530
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.25585364
55cell migration in hindbrain (GO:0021535)3.25575870
56transmission of nerve impulse (GO:0019226)3.25395922
57mating behavior (GO:0007617)3.23333937
58presynaptic membrane assembly (GO:0097105)3.22469629
59regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.20826938
60positive regulation of synaptic transmission, GABAergic (GO:0032230)3.17732967
61regulation of synaptic plasticity (GO:0048167)3.16626644
62dendritic spine organization (GO:0097061)3.16218592
63response to histamine (GO:0034776)3.16151805
64innervation (GO:0060384)3.14926902
65regulation of postsynaptic membrane potential (GO:0060078)3.13955695
66neurotransmitter-gated ion channel clustering (GO:0072578)3.13812422
67positive regulation of membrane potential (GO:0045838)3.13366578
68auditory behavior (GO:0031223)3.10705586
69regulation of respiratory system process (GO:0044065)3.09284625
70G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.06685717
71positive regulation of dendritic spine morphogenesis (GO:0061003)3.06679192
72regulation of vesicle fusion (GO:0031338)3.05506369
73acidic amino acid transport (GO:0015800)3.05465337
74behavioral fear response (GO:0001662)3.04170063
75behavioral defense response (GO:0002209)3.04170063
76cerebellar Purkinje cell differentiation (GO:0021702)3.04120810
77vesicle transport along microtubule (GO:0047496)3.03312952
78positive regulation of dendritic spine development (GO:0060999)3.03032481
79hippocampus development (GO:0021766)3.01716170
80cerebellar Purkinje cell layer development (GO:0021680)3.00927618
81regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.99019079
82postsynaptic membrane organization (GO:0001941)2.98124256
83neuronal ion channel clustering (GO:0045161)2.97927766
84regulation of voltage-gated calcium channel activity (GO:1901385)2.97853100
85cell communication by electrical coupling (GO:0010644)2.96209765
86establishment of vesicle localization (GO:0051650)2.95841698
87presynaptic membrane organization (GO:0097090)2.95357728
88membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.95107691
89regulation of neurotransmitter levels (GO:0001505)2.95103930
90glycine transport (GO:0015816)2.94926602
91organelle transport along microtubule (GO:0072384)2.94873433
92central nervous system projection neuron axonogenesis (GO:0021952)2.94774486
93long-term synaptic potentiation (GO:0060291)2.94771546
94positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.94381992
95fear response (GO:0042596)2.94132096
96positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.94090359
97establishment of synaptic vesicle localization (GO:0097480)2.94088938
98synaptic vesicle transport (GO:0048489)2.94088938
99cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.93251363
100glycosphingolipid biosynthetic process (GO:0006688)2.93153033
101synapse assembly (GO:0007416)2.91235517
102regulation of synaptic transmission, glutamatergic (GO:0051966)2.88887958
103regulation of neurotransmitter secretion (GO:0046928)2.88531426
104cerebellar granule cell differentiation (GO:0021707)2.88193315
105regulation of neurotransmitter transport (GO:0051588)2.87134059
106positive regulation of synapse assembly (GO:0051965)2.85893732
107synapse organization (GO:0050808)2.85699785
108regulation of dendritic spine development (GO:0060998)2.85626036
109positive regulation of neurotransmitter transport (GO:0051590)2.85366081
110response to auditory stimulus (GO:0010996)2.84731323
111startle response (GO:0001964)2.84110886
112chemosensory behavior (GO:0007635)2.82816598
113negative regulation of synaptic transmission, GABAergic (GO:0032229)2.81951665
114calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.80339502
115negative regulation of microtubule polymerization (GO:0031115)2.76907726
116regulation of synapse maturation (GO:0090128)2.76617197
117learning (GO:0007612)2.76596642
118intraspecies interaction between organisms (GO:0051703)2.75516006
119social behavior (GO:0035176)2.75516006
120prepulse inhibition (GO:0060134)2.75504373
121regulation of cAMP-dependent protein kinase activity (GO:2000479)2.74970105
122G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.74765763
123regulation of NFAT protein import into nucleus (GO:0051532)2.74083493
124neuromuscular process (GO:0050905)2.72803007
125regulation of calcium ion-dependent exocytosis (GO:0017158)2.70839406
126L-glutamate transport (GO:0015813)2.69838732
127regulation of clathrin-mediated endocytosis (GO:2000369)2.69233483
128regulation of synaptic transmission, GABAergic (GO:0032228)2.68092536
129establishment of nucleus localization (GO:0040023)2.67686298
130regulation of female receptivity (GO:0045924)2.66688092

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.82289270
2JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09320255
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.02673054
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98418482
5GBX2_23144817_ChIP-Seq_PC3_Human2.85760589
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82140686
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82140686
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67737388
9REST_21632747_ChIP-Seq_MESCs_Mouse2.62933820
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.62891972
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.62877337
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.54028512
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53109549
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49744135
15ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.42999804
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.42376963
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.41618585
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.31667013
19EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.28318414
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.26437581
21DROSHA_22980978_ChIP-Seq_HELA_Human2.23278171
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.22895376
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21601532
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.15763107
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.14946889
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02939002
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.02712762
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87511854
29* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.83303119
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.82961867
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.82085995
32ZFP281_18757296_ChIP-ChIP_E14_Mouse1.67925760
33WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.67278337
34TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.55451237
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.53687389
36RING1B_27294783_Chip-Seq_ESCs_Mouse1.53399150
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.52007540
38RING1B_27294783_Chip-Seq_NPCs_Mouse1.51905215
39ZNF274_21170338_ChIP-Seq_K562_Hela1.47762594
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.45313969
41KDM2B_26808549_Chip-Seq_K562_Human1.45075196
42AR_21572438_ChIP-Seq_LNCaP_Human1.45040762
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.44967189
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44110685
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.37693308
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.36529405
47EGR1_19032775_ChIP-ChIP_M12_Human1.35615912
48SMAD4_21799915_ChIP-Seq_A2780_Human1.34869144
49ZFP281_27345836_Chip-Seq_ESCs_Mouse1.34499323
50STAT6_21828071_ChIP-Seq_BEAS2B_Human1.32856617
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.31604945
52WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31406294
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.26744316
54TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25826147
55AR_19668381_ChIP-Seq_PC3_Human1.25719448
56SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.25620267
57SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.25533127
58DNAJC2_21179169_ChIP-ChIP_NT2_Human1.25515730
59PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25357068
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.24768320
61EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.23806946
62WT1_19549856_ChIP-ChIP_CCG9911_Human1.23651115
63BMI1_23680149_ChIP-Seq_NPCS_Mouse1.21750079
64RNF2_27304074_Chip-Seq_NSC_Mouse1.21201438
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19424743
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19200325
67FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.18637844
68REST_19997604_ChIP-ChIP_NEURONS_Mouse1.17931846
69SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17127161
70IGF1R_20145208_ChIP-Seq_DFB_Human1.14724986
71ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13343947
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.13234805
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12320740
74RBPJ_22232070_ChIP-Seq_NCS_Mouse1.11690861
75SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.09536120
76TP53_20018659_ChIP-ChIP_R1E_Mouse1.09095851
77STAT3_23295773_ChIP-Seq_U87_Human1.08337678
78SMAD3_21741376_ChIP-Seq_EPCs_Human1.08115558
79TAF15_26573619_Chip-Seq_HEK293_Human1.07020079
80ARNT_22903824_ChIP-Seq_MCF-7_Human1.06136542
81AHR_22903824_ChIP-Seq_MCF-7_Human1.05098040
82DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.04831415
83TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02812951
84P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02147565
85OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02075488
86PIAS1_25552417_ChIP-Seq_VCAP_Human1.01044352
87OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.99319304
88AR_25329375_ChIP-Seq_VCAP_Human0.97410878
89P300_19829295_ChIP-Seq_ESCs_Human0.97070905
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.96498890
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.95930538
92VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94605018
93EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.94148476
94CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.93675816
95KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92938577
96TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.92698520
97SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92394641
98RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92053648
99CDX2_19796622_ChIP-Seq_MESCs_Mouse0.91787542
100TET1_21490601_ChIP-Seq_MESCs_Mouse0.91703496
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91507434
102ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91363264
103GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91134127
104SMAD3_21741376_ChIP-Seq_HESCs_Human0.91067755
105ELK4_26923725_Chip-Seq_MESODERM_Mouse0.88746762
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88130177
107FUS_26573619_Chip-Seq_HEK293_Human0.88009437
108STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.87110168
109TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86654515
110KDM2B_26808549_Chip-Seq_REH_Human0.86005065
111SRY_22984422_ChIP-ChIP_TESTIS_Rat0.85933457
112TP53_16413492_ChIP-PET_HCT116_Human0.85582249
113TCF4_23295773_ChIP-Seq_U87_Human0.85379869
114POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.84672538
115CTCF_27219007_Chip-Seq_Bcells_Human0.83857191
116RUNX2_22187159_ChIP-Seq_PCA_Human0.83801243
117ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.83466010
118SMAD_19615063_ChIP-ChIP_OVARY_Human0.82843910
119TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82238344
120NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81597358
121TAL1_26923725_Chip-Seq_HPCs_Mouse0.80423971
122LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79276780
123NANOG_18555785_Chip-Seq_ESCs_Mouse0.78408108
124RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.77866799

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.84875953
2MP0003880_abnormal_central_pattern4.29436143
3MP0003635_abnormal_synaptic_transmissio3.86755942
4MP0004270_analgesia3.65246096
5MP0002063_abnormal_learning/memory/cond3.11295862
6MP0009745_abnormal_behavioral_response3.00372766
7MP0002064_seizures2.81381242
8MP0009046_muscle_twitch2.59898750
9MP0002572_abnormal_emotion/affect_behav2.57284070
10MP0005423_abnormal_somatic_nervous2.57015897
11MP0009780_abnormal_chondrocyte_physiolo2.44216992
12MP0002734_abnormal_mechanical_nocicepti2.37257760
13MP0001968_abnormal_touch/_nociception2.35226137
14MP0003122_maternal_imprinting2.31802913
15MP0001486_abnormal_startle_reflex2.28429844
16MP0004858_abnormal_nervous_system2.23011250
17MP0002272_abnormal_nervous_system2.21813919
18MP0000778_abnormal_nervous_system2.18681201
19MP0002909_abnormal_adrenal_gland2.09929385
20MP0002733_abnormal_thermal_nociception1.97900444
21MP0001440_abnormal_grooming_behavior1.97427891
22MP0001501_abnormal_sleep_pattern1.94426994
23MP0002184_abnormal_innervation1.90900242
24MP0003283_abnormal_digestive_organ1.89922222
25MP0003329_amyloid_beta_deposits1.85653916
26MP0000955_abnormal_spinal_cord1.76219381
27MP0001970_abnormal_pain_threshold1.75038886
28MP0002822_catalepsy1.74244916
29MP0004811_abnormal_neuron_physiology1.73132704
30MP0002557_abnormal_social/conspecific_i1.70621637
31MP0002735_abnormal_chemical_nociception1.69317450
32MP0002067_abnormal_sensory_capabilities1.68928411
33MP0002736_abnormal_nociception_after1.68217740
34MP0004885_abnormal_endolymph1.61051933
35MP0008569_lethality_at_weaning1.55103313
36MP0003221_abnormal_cardiomyocyte_apopto1.54134384
37MP0006276_abnormal_autonomic_nervous1.52498888
38MP0003787_abnormal_imprinting1.51693033
39MP0004924_abnormal_behavior1.50337216
40MP0005386_behavior/neurological_phenoty1.50337216
41MP0002882_abnormal_neuron_morphology1.45481356
42MP0005623_abnormal_meninges_morphology1.38721966
43MP0008961_abnormal_basal_metabolism1.35393855
44MP0005645_abnormal_hypothalamus_physiol1.35136328
45MP0002066_abnormal_motor_capabilities/c1.34289320
46MP0005499_abnormal_olfactory_system1.32748276
47MP0005394_taste/olfaction_phenotype1.32748276
48MP0002152_abnormal_brain_morphology1.28821612
49MP0000604_amyloidosis1.28564351
50MP0000750_abnormal_muscle_regeneration1.21336253
51MP0005646_abnormal_pituitary_gland1.20335422
52MP0000013_abnormal_adipose_tissue1.17896432
53MP0004145_abnormal_muscle_electrophysio1.16507260
54MP0001984_abnormal_olfaction1.14123742
55MP0003690_abnormal_glial_cell1.13622625
56MP0003879_abnormal_hair_cell1.12898429
57MP0005248_abnormal_Harderian_gland1.09601538
58MP0000631_abnormal_neuroendocrine_gland1.08299948
59MP0003633_abnormal_nervous_system1.07371273
60MP0003121_genomic_imprinting1.07231052
61MP0002102_abnormal_ear_morphology1.05368905
62MP0001529_abnormal_vocalization1.03905296
63MP0004510_myositis1.02740968
64MP0003634_abnormal_glial_cell1.00625418
65MP0001502_abnormal_circadian_rhythm1.00527238
66MP0003724_increased_susceptibility_to0.99570748
67MP0004142_abnormal_muscle_tone0.99124841
68MP0003861_abnormal_nervous_system0.97903996
69MP0003123_paternal_imprinting0.96637480
70MP0008877_abnormal_DNA_methylation0.93722378
71MP0005187_abnormal_penis_morphology0.93668744
72MP0002332_abnormal_exercise_endurance0.93169849
73MP0002069_abnormal_eating/drinking_beha0.92812472
74MP0002653_abnormal_ependyma_morphology0.91984346
75MP0003631_nervous_system_phenotype0.91274959
76MP0003119_abnormal_digestive_system0.91114079
77MP0001188_hyperpigmentation0.89387173
78MP0001905_abnormal_dopamine_level0.87433937
79MP0000569_abnormal_digit_pigmentation0.87421208
80MP0008260_abnormal_autophagy0.85409029
81MP0002234_abnormal_pharynx_morphology0.84658677
82MP0006292_abnormal_olfactory_placode0.83725658
83MP0002752_abnormal_somatic_nervous0.83306058
84MP0006072_abnormal_retinal_apoptosis0.82562154
85MP0002229_neurodegeneration0.82012176
86MP0004085_abnormal_heartbeat0.81949412
87MP0004742_abnormal_vestibular_system0.81665368
88MP0001299_abnormal_eye_distance/0.80228929
89MP0003632_abnormal_nervous_system0.77689392
90MP0001348_abnormal_lacrimal_gland0.77053464
91MP0004233_abnormal_muscle_weight0.74987845
92MP0000534_abnormal_ureter_morphology0.71617036
93MP0003938_abnormal_ear_development0.71582820
94MP0002837_dystrophic_cardiac_calcinosis0.70903706
95MP0000751_myopathy0.70107427
96MP0003137_abnormal_impulse_conducting0.69476646
97MP0010234_abnormal_vibrissa_follicle0.69287407
98MP0001963_abnormal_hearing_physiology0.68972976
99MP0005551_abnormal_eye_electrophysiolog0.68894566
100MP0003890_abnormal_embryonic-extraembry0.68370270
101MP0001943_abnormal_respiration0.68283406
102MP0000920_abnormal_myelination0.66773222
103MP0002106_abnormal_muscle_physiology0.65238486
104MP0010386_abnormal_urinary_bladder0.64697824
105MP0001177_atelectasis0.63844168
106MP0004043_abnormal_pH_regulation0.63201350
107MP0004133_heterotaxia0.62804139
108MP0010770_preweaning_lethality0.61606720
109MP0002082_postnatal_lethality0.61606720
110MP0002009_preneoplasia0.60740999
111MP0002081_perinatal_lethality0.60546145
112MP0005253_abnormal_eye_physiology0.60545022
113MP0005535_abnormal_body_temperature0.59563611
114MP0002090_abnormal_vision0.59339993
115MP0001485_abnormal_pinna_reflex0.58946957
116MP0001340_abnormal_eyelid_morphology0.58875562
117MP0008789_abnormal_olfactory_epithelium0.58758732
118MP0008874_decreased_physiological_sensi0.58578378
119MP0010769_abnormal_survival0.58427997
120MP0010768_mortality/aging0.58345751
121MP0001270_distended_abdomen0.58330520
122MP0002269_muscular_atrophy0.57889167
123MP0004484_altered_response_of0.57532362

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.66425640
2Myokymia (HP:0002411)5.03609854
3Visual hallucinations (HP:0002367)4.88657620
4Focal seizures (HP:0007359)4.81861713
5Epileptic encephalopathy (HP:0200134)3.97733031
6Atonic seizures (HP:0010819)3.72252693
7Supranuclear gaze palsy (HP:0000605)3.67622336
8Absence seizures (HP:0002121)3.47022412
9Polyphagia (HP:0002591)3.40629760
10Progressive cerebellar ataxia (HP:0002073)3.32693626
11Cerebral inclusion bodies (HP:0100314)3.25612210
12Gait imbalance (HP:0002141)3.24197975
13Peripheral hypomyelination (HP:0007182)3.22606285
14Dialeptic seizures (HP:0011146)3.21501324
15Action tremor (HP:0002345)3.20701534
16Amblyopia (HP:0000646)3.18081297
17Generalized tonic-clonic seizures (HP:0002069)3.15316226
18Febrile seizures (HP:0002373)3.08933352
19Papilledema (HP:0001085)3.04899495
20Depression (HP:0000716)2.96100737
21Neurofibrillary tangles (HP:0002185)2.93999180
22Ankle clonus (HP:0011448)2.92338836
23Hemiparesis (HP:0001269)2.88886455
24Sleep apnea (HP:0010535)2.88613204
25Abnormality of the lower motor neuron (HP:0002366)2.84037018
26Abnormality of the hip-girdle musculature (HP:0001445)2.83455697
27Abnormality of the musculature of the pelvis (HP:0001469)2.83455697
28Excessive salivation (HP:0003781)2.76996379
29Drooling (HP:0002307)2.76996379
30Poor eye contact (HP:0000817)2.75142139
31Broad-based gait (HP:0002136)2.75062446
32Hyperventilation (HP:0002883)2.74686594
33Dysdiadochokinesis (HP:0002075)2.71996801
34Congenital primary aphakia (HP:0007707)2.69446324
35Nephrogenic diabetes insipidus (HP:0009806)2.69039036
36Genetic anticipation (HP:0003743)2.67289539
37Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.67078475
38Degeneration of the lateral corticospinal tracts (HP:0002314)2.67078475
39Impaired social interactions (HP:0000735)2.63562195
40Abnormal social behavior (HP:0012433)2.63562195
41Mutism (HP:0002300)2.63170846
42Shoulder girdle muscle weakness (HP:0003547)2.57295749
43Megalencephaly (HP:0001355)2.56107167
44Impaired vibration sensation in the lower limbs (HP:0002166)2.54395934
45Termporal pattern (HP:0011008)2.53572390
46Insidious onset (HP:0003587)2.53572390
47Truncal ataxia (HP:0002078)2.52658408
48Spastic tetraplegia (HP:0002510)2.52532047
49Anxiety (HP:0000739)2.50827893
50Dysmetria (HP:0001310)2.50100550
51Abnormality of the corticospinal tract (HP:0002492)2.49013845
52Cortical dysplasia (HP:0002539)2.46125579
53Urinary bladder sphincter dysfunction (HP:0002839)2.44097945
54Agitation (HP:0000713)2.41226826
55Hammertoe (HP:0001765)2.37394225
56Postural instability (HP:0002172)2.35744376
57Epileptiform EEG discharges (HP:0011182)2.34754663
58Abnormality of binocular vision (HP:0011514)2.33980626
59Diplopia (HP:0000651)2.33980626
60Pelvic girdle muscle weakness (HP:0003749)2.33711872
61EEG with generalized epileptiform discharges (HP:0011198)2.32688762
62Ulnar claw (HP:0001178)2.31677423
63Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.30596921
64Insomnia (HP:0100785)2.30119972
65Abnormal eating behavior (HP:0100738)2.28861018
66Specific learning disability (HP:0001328)2.28480230
67Paraplegia (HP:0010550)2.28227261
68Impaired smooth pursuit (HP:0007772)2.27197568
69Medial flaring of the eyebrow (HP:0010747)2.26756041
70Hypsarrhythmia (HP:0002521)2.26590936
71Ankyloglossia (HP:0010296)2.26396969
72Gaze-evoked nystagmus (HP:0000640)2.21550235
73Macroorchidism (HP:0000053)2.21412262
74Morphological abnormality of the pyramidal tract (HP:0002062)2.19426424
75Aplasia/Hypoplasia of the brainstem (HP:0007362)2.19119369
76Hypoplasia of the brainstem (HP:0002365)2.19119369
77Spastic gait (HP:0002064)2.18769847
78Hand muscle atrophy (HP:0009130)2.17838647
79Absent speech (HP:0001344)2.15957818
80Urinary urgency (HP:0000012)2.15627415
81Limb dystonia (HP:0002451)2.14089014
82Pheochromocytoma (HP:0002666)2.13774742
83Split foot (HP:0001839)2.12792026
84Neoplasm of the heart (HP:0100544)2.12287413
85Tetraplegia (HP:0002445)2.09978665
86Stereotypic behavior (HP:0000733)2.09879183
87Bradykinesia (HP:0002067)2.08591479
88Spastic paraplegia (HP:0001258)2.06722059
89Apathy (HP:0000741)2.06509317
90Pointed chin (HP:0000307)2.06312004
91Retinal dysplasia (HP:0007973)2.06052676
92Intention tremor (HP:0002080)2.05250950
93Clonus (HP:0002169)2.04599558
94Hypoplasia of the corpus callosum (HP:0002079)2.04530273
95Abnormality of ocular smooth pursuit (HP:0000617)2.04107930
96Hemiplegia (HP:0002301)2.03710614
97Lower limb amyotrophy (HP:0007210)2.03386042
98Limb-girdle muscle atrophy (HP:0003797)2.02950952
99Neuronal loss in central nervous system (HP:0002529)2.02121067
100Hepatoblastoma (HP:0002884)2.02115566
101Limb-girdle muscle weakness (HP:0003325)2.01791319
102Resting tremor (HP:0002322)2.01225796
103Exercise-induced muscle cramps (HP:0003710)1.98795098
104Failure to thrive in infancy (HP:0001531)1.98022177
105Steppage gait (HP:0003376)1.96131338
106Progressive inability to walk (HP:0002505)1.95704531
107Esotropia (HP:0000565)1.94908384
108Upper limb muscle weakness (HP:0003484)1.94813246
109Muscular hypotonia of the trunk (HP:0008936)1.93651442
110Obstructive sleep apnea (HP:0002870)1.93490706
111Lower limb muscle weakness (HP:0007340)1.92096950
112Annular pancreas (HP:0001734)1.90106420
113Inappropriate behavior (HP:0000719)1.89842021
114* Amyotrophic lateral sclerosis (HP:0007354)1.89630221
115Hypoventilation (HP:0002791)1.89512846
116Aplasia involving bones of the extremities (HP:0009825)1.89230574
117Aplasia involving bones of the upper limbs (HP:0009823)1.89230574
118Aplasia of the phalanges of the hand (HP:0009802)1.89230574
119Torticollis (HP:0000473)1.89140948
120Rimmed vacuoles (HP:0003805)1.88918659
121Rapidly progressive (HP:0003678)1.88908847
122Status epilepticus (HP:0002133)1.87022961
123Generalized myoclonic seizures (HP:0002123)1.86141527
124Scanning speech (HP:0002168)1.84401129
125Generalized hypotonia (HP:0001290)1.84022837
126Open mouth (HP:0000194)1.78938853
127Diminished motivation (HP:0000745)1.76654647
128Bronchomalacia (HP:0002780)1.76499371
129Abnormality of salivation (HP:0100755)1.76037810
130Buphthalmos (HP:0000557)1.74546736
131Focal dystonia (HP:0004373)1.71619418
132Intellectual disability, profound (HP:0002187)1.70450184
133Hypercortisolism (HP:0001578)1.69784653
134Renal duplication (HP:0000075)1.67950826
135Postural tremor (HP:0002174)1.67245660
136Sporadic (HP:0003745)1.65928273
137Abnormality of oral frenula (HP:0000190)1.65660030
138Gait ataxia (HP:0002066)1.65448442
139Aqueductal stenosis (HP:0002410)1.65322078
140Exotropia (HP:0000577)1.65267638

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.05490668
2MAP3K93.96294845
3EPHA43.70481280
4MARK13.50762594
5MAP3K42.76744918
6MINK12.58780058
7TRIM282.48698450
8NTRK12.44207525
9PAK62.31130928
10KSR22.17407503
11NTRK22.13235838
12PRKD32.12934259
13DYRK22.08608288
14SIK32.05725284
15CSNK1A1L1.99505795
16MAP2K41.97339919
17PNCK1.95730267
18TYRO31.90664501
19DAPK21.90447390
20LATS21.89321250
21MAP2K71.86378191
22GRK51.82233866
23KSR11.79821662
24CSNK1G31.75827672
25SIK21.75185404
26UHMK11.60287989
27CAMKK11.54147578
28TESK11.49177573
29CDK51.48003082
30RIPK41.47329368
31EPHA31.40458783
32ERBB31.40035055
33LIMK11.34211348
34PINK11.34164260
35MAP3K21.32734665
36DYRK1B1.22883518
37CSNK1G11.22633412
38MAP3K121.19709129
39PLK21.15556639
40MAP3K51.14956371
41EPHB11.12933625
42STK381.11907200
43ALK1.11687252
44PAK31.07609219
45PRKCG1.06375325
46AKT31.03437938
47CDK141.01921446
48DAPK11.01891945
49PHKG20.98200258
50PHKG10.98200258
51CDK180.97470120
52CDK150.97450549
53RET0.96930249
54ICK0.96891313
55TAOK10.95341830
56MAPK130.94768654
57MARK20.91354361
58STK110.90580365
59CAMK1G0.89667089
60CDK190.87685494
61DYRK30.87657901
62SGK20.87534264
63WNK10.87259097
64CDK11A0.85993991
65PDGFRA0.85976744
66MAP4K20.85867163
67ARAF0.84176473
68PRKCH0.84019863
69CAMK2A0.82951252
70CSNK1G20.80332202
71FES0.79899075
72CASK0.78607232
73RIPK10.78362615
74DYRK1A0.76118395
75TNIK0.72190872
76SCYL20.71657399
77CDK120.70246011
78PRPF4B0.68239974
79WNK30.67625936
80CAMK2B0.67560927
81DMPK0.65965541
82DDR20.65111344
83PRKD20.64994078
84HIPK20.64953760
85PTK2B0.64493426
86CAMK10.63805752
87MAP3K130.63574655
88FGR0.62709517
89CAMKK20.62082625
90MAP3K10.61208411
91SGK30.59184323
92SGK10.58914621
93MAP3K60.58044787
94CDC42BPA0.57672040
95MAPK100.57216344
96PTK20.56378021
97TNK20.55754485
98SGK4940.54765699
99SGK2230.54765699
100RAF10.53591161
101PIM20.53126096
102FER0.53066416
103CAMK2G0.52832901
104MAP3K110.52810742
105GRK70.48860584
106RPS6KA30.48789706
107BCR0.48323925
108PRKCZ0.48251471
109TRIB30.47710725
110MAPK70.47581336
111FYN0.46182387
112CAMK40.44655099
113TESK20.43367892
114CSNK1E0.42308045
115BMX0.42248235
116JAK10.41359880
117JAK20.41144828
118OXSR10.41104170
119ROCK20.39970572
120FGFR20.38625303
121MOS0.38127847
122TAOK20.37665842
123CAMK2D0.37630004
124PRKCE0.37465253
125PDK10.37225136
126SRPK10.36819682
127NEK60.36525447
128ADRBK10.36095252
129RPS6KA20.35598253
130GRK60.35371269
131PDPK10.34706633
132MAP3K70.34234234
133MAPK120.33817471
134RPS6KA40.32435306
135MAPK90.32109019
136CDK60.32104098
137PRKD10.31011198
138PRKAA10.30173501

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.18536241
2Synaptic vesicle cycle_Homo sapiens_hsa047212.73204279
3Long-term potentiation_Homo sapiens_hsa047202.59374521
4GABAergic synapse_Homo sapiens_hsa047272.59057997
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.40291967
6Circadian entrainment_Homo sapiens_hsa047132.39966929
7Glutamatergic synapse_Homo sapiens_hsa047242.39685713
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.38334276
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.29805794
10Amphetamine addiction_Homo sapiens_hsa050312.24241938
11Olfactory transduction_Homo sapiens_hsa047402.22636358
12Morphine addiction_Homo sapiens_hsa050322.21347907
13Dopaminergic synapse_Homo sapiens_hsa047282.13038211
14Insulin secretion_Homo sapiens_hsa049112.01917614
15Salivary secretion_Homo sapiens_hsa049701.99882968
16Long-term depression_Homo sapiens_hsa047301.80977853
17Cocaine addiction_Homo sapiens_hsa050301.75656730
18Gastric acid secretion_Homo sapiens_hsa049711.73451452
19Cholinergic synapse_Homo sapiens_hsa047251.73181925
20Taste transduction_Homo sapiens_hsa047421.68693253
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67692335
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.67336550
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.63118434
24Renin secretion_Homo sapiens_hsa049241.63075009
25Serotonergic synapse_Homo sapiens_hsa047261.61992861
26Oxytocin signaling pathway_Homo sapiens_hsa049211.54876943
27Gap junction_Homo sapiens_hsa045401.51809039
28GnRH signaling pathway_Homo sapiens_hsa049121.48803502
29Axon guidance_Homo sapiens_hsa043601.38543357
30Calcium signaling pathway_Homo sapiens_hsa040201.35118179
31Estrogen signaling pathway_Homo sapiens_hsa049151.32745753
32Type II diabetes mellitus_Homo sapiens_hsa049301.28840307
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27001264
34Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.25241328
35Glioma_Homo sapiens_hsa052141.23924723
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.22627533
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22247492
38cAMP signaling pathway_Homo sapiens_hsa040241.22142232
39Melanogenesis_Homo sapiens_hsa049161.21774522
40Dorso-ventral axis formation_Homo sapiens_hsa043201.16632316
41ErbB signaling pathway_Homo sapiens_hsa040121.14045827
42Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.12124716
43Circadian rhythm_Homo sapiens_hsa047101.09820812
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06489832
45Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05597045
46Collecting duct acid secretion_Homo sapiens_hsa049661.03671738
47Regulation of autophagy_Homo sapiens_hsa041401.03638344
48Oocyte meiosis_Homo sapiens_hsa041141.00939510
49Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.98396864
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.96590639
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.94512061
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93043695
53Vibrio cholerae infection_Homo sapiens_hsa051100.91382311
54Pancreatic secretion_Homo sapiens_hsa049720.90091595
55Shigellosis_Homo sapiens_hsa051310.88307504
56Nitrogen metabolism_Homo sapiens_hsa009100.87178219
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.87125141
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.86327102
59mTOR signaling pathway_Homo sapiens_hsa041500.86150232
60VEGF signaling pathway_Homo sapiens_hsa043700.85985886
61Thyroid hormone synthesis_Homo sapiens_hsa049180.85751834
62Choline metabolism in cancer_Homo sapiens_hsa052310.84136015
63Salmonella infection_Homo sapiens_hsa051320.82405891
64Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82290105
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.81066794
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.79642886
67Renal cell carcinoma_Homo sapiens_hsa052110.77607256
68MAPK signaling pathway_Homo sapiens_hsa040100.76721305
69Wnt signaling pathway_Homo sapiens_hsa043100.74663835
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73616471
71Dilated cardiomyopathy_Homo sapiens_hsa054140.73137544
72Cardiac muscle contraction_Homo sapiens_hsa042600.73113853
73Phototransduction_Homo sapiens_hsa047440.69537740
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.69333740
75Rap1 signaling pathway_Homo sapiens_hsa040150.69176601
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67979480
77Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.67812361
78Endometrial cancer_Homo sapiens_hsa052130.67249584
79Ras signaling pathway_Homo sapiens_hsa040140.65657524
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.65602036
81Type I diabetes mellitus_Homo sapiens_hsa049400.62500012
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.62388070
83Hedgehog signaling pathway_Homo sapiens_hsa043400.62287848
84Glucagon signaling pathway_Homo sapiens_hsa049220.62124724
85Phagosome_Homo sapiens_hsa041450.62015884
86Non-small cell lung cancer_Homo sapiens_hsa052230.61486071
87Prion diseases_Homo sapiens_hsa050200.59997327
88Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59244546
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58930937
90AMPK signaling pathway_Homo sapiens_hsa041520.58792839
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56191208
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55813375
93Chemokine signaling pathway_Homo sapiens_hsa040620.55181886
94Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.55075395
95Endocytosis_Homo sapiens_hsa041440.53856073
96Colorectal cancer_Homo sapiens_hsa052100.53491528
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51029106
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50727861
99Alcoholism_Homo sapiens_hsa050340.50279592
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50183926
101Inositol phosphate metabolism_Homo sapiens_hsa005620.50040789
102Hippo signaling pathway_Homo sapiens_hsa043900.49594661
103Insulin signaling pathway_Homo sapiens_hsa049100.47960854
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45880516
105Ovarian steroidogenesis_Homo sapiens_hsa049130.43919095
106Hepatitis B_Homo sapiens_hsa051610.42133083
107Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41628581
108Tight junction_Homo sapiens_hsa045300.40623474
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40607224
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.40537858
111Bile secretion_Homo sapiens_hsa049760.38462860
112Tuberculosis_Homo sapiens_hsa051520.38346890
113Central carbon metabolism in cancer_Homo sapiens_hsa052300.36425509
114Prolactin signaling pathway_Homo sapiens_hsa049170.36420642
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.34961674
116Proteoglycans in cancer_Homo sapiens_hsa052050.32565010
117FoxO signaling pathway_Homo sapiens_hsa040680.31807313
118Basal cell carcinoma_Homo sapiens_hsa052170.31590466
1192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.31440682
120Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30473900
121Hepatitis C_Homo sapiens_hsa051600.26522014

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