PREPL

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: The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.21536157
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.15471931
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.61420697
4locomotory exploration behavior (GO:0035641)5.59178189
5synaptic vesicle exocytosis (GO:0016079)5.45550600
6glutamate secretion (GO:0014047)5.36213428
7regulation of synaptic vesicle exocytosis (GO:2000300)5.34976267
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.31300447
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.23800237
10vocalization behavior (GO:0071625)5.02516930
11neurotransmitter secretion (GO:0007269)4.74927914
12regulation of synaptic vesicle transport (GO:1902803)4.74110258
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.65527437
14regulation of glutamate receptor signaling pathway (GO:1900449)4.54636738
15neuronal action potential propagation (GO:0019227)4.43809975
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.23423485
17gamma-aminobutyric acid transport (GO:0015812)4.22976024
18protein localization to synapse (GO:0035418)4.21313048
19exploration behavior (GO:0035640)4.21252754
20regulation of neuronal synaptic plasticity (GO:0048168)4.17391269
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.07914595
22cellular potassium ion homeostasis (GO:0030007)4.05446511
23proline transport (GO:0015824)4.03924285
24membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.03471606
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.03435787
26regulation of synapse structural plasticity (GO:0051823)4.03416821
27L-amino acid import (GO:0043092)3.99187488
28neuron cell-cell adhesion (GO:0007158)3.96336844
29activation of protein kinase A activity (GO:0034199)3.94896818
30neurotransmitter-gated ion channel clustering (GO:0072578)3.94681957
31layer formation in cerebral cortex (GO:0021819)3.94297559
32sodium ion export (GO:0071436)3.94098922
33synaptic transmission, glutamatergic (GO:0035249)3.90779339
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.87304549
35neurotransmitter transport (GO:0006836)3.82909810
36amino acid import (GO:0043090)3.75322702
37presynaptic membrane assembly (GO:0097105)3.74908852
38neuromuscular process controlling posture (GO:0050884)3.74872938
39neuron-neuron synaptic transmission (GO:0007270)3.74427903
40glutamate receptor signaling pathway (GO:0007215)3.65055340
41long-term memory (GO:0007616)3.64421729
42cerebellar Purkinje cell differentiation (GO:0021702)3.61167348
43cell communication by electrical coupling (GO:0010644)3.60213853
44presynaptic membrane organization (GO:0097090)3.59651351
45positive regulation of membrane potential (GO:0045838)3.57742900
46regulation of neurotransmitter levels (GO:0001505)3.48763101
47glycine transport (GO:0015816)3.46750625
48dendritic spine morphogenesis (GO:0060997)3.46504579
49positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.44805020
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.41217864
51regulation of excitatory postsynaptic membrane potential (GO:0060079)3.41069050
52positive regulation of synaptic transmission, GABAergic (GO:0032230)3.38662590
53neuromuscular process controlling balance (GO:0050885)3.38317255
54regulation of neurotransmitter secretion (GO:0046928)3.36764411
55axon ensheathment in central nervous system (GO:0032291)3.36622096
56central nervous system myelination (GO:0022010)3.36622096
57negative regulation of dendrite morphogenesis (GO:0050774)3.34072244
58synaptic vesicle endocytosis (GO:0048488)3.34023470
59regulation of synaptic plasticity (GO:0048167)3.32140145
60cell communication involved in cardiac conduction (GO:0086065)3.31721657
61detection of calcium ion (GO:0005513)3.31424663
62positive regulation of dendritic spine morphogenesis (GO:0061003)3.31032412
63vesicle transport along microtubule (GO:0047496)3.29387440
64regulation of postsynaptic membrane potential (GO:0060078)3.27437868
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.27048457
66membrane depolarization during action potential (GO:0086010)3.26390697
67regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.23417455
68positive regulation of dendritic spine development (GO:0060999)3.23347099
69regulation of voltage-gated calcium channel activity (GO:1901385)3.22949034
70long-term synaptic potentiation (GO:0060291)3.22835835
71positive regulation of synapse maturation (GO:0090129)3.21261915
72regulation of synapse maturation (GO:0090128)3.21046161
73establishment of mitochondrion localization (GO:0051654)3.14590814
74positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.14269681
75gamma-aminobutyric acid signaling pathway (GO:0007214)3.11842667
76regulation of neurotransmitter transport (GO:0051588)3.11625504
77regulation of synaptic transmission, glutamatergic (GO:0051966)3.10564242
78regulation of cell communication by electrical coupling (GO:0010649)3.08873341
79regulation of vesicle fusion (GO:0031338)3.08702705
80negative regulation of synaptic transmission, GABAergic (GO:0032229)3.08079400
81potassium ion import (GO:0010107)3.07474491
82cerebellar Purkinje cell layer development (GO:0021680)3.07292997
83dendrite morphogenesis (GO:0048813)3.06874491
84transmission of nerve impulse (GO:0019226)3.05694554
85regulation of dendritic spine development (GO:0060998)3.05278034
86neurotransmitter uptake (GO:0001504)3.04894221
87response to auditory stimulus (GO:0010996)3.04878948
88postsynaptic membrane organization (GO:0001941)3.04435188
89neuron recognition (GO:0008038)3.04410544
90neuromuscular synaptic transmission (GO:0007274)3.04142176
91auditory behavior (GO:0031223)3.03309483
92innervation (GO:0060384)3.02023777
93regulation of ARF protein signal transduction (GO:0032012)2.99956174
94negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.99536444
95membrane hyperpolarization (GO:0060081)2.98882898
96synaptic vesicle transport (GO:0048489)2.98133763
97establishment of synaptic vesicle localization (GO:0097480)2.98133763
98neuromuscular process (GO:0050905)2.97072394
99positive regulation of neurotransmitter transport (GO:0051590)2.96209709
100positive regulation of potassium ion transmembrane transport (GO:1901381)2.96042577
101membrane depolarization (GO:0051899)2.94970040
102organelle transport along microtubule (GO:0072384)2.94011972
103regulation of dendritic spine morphogenesis (GO:0061001)2.90468189
104synaptic transmission (GO:0007268)2.90108351
105acidic amino acid transport (GO:0015800)2.90090706
106positive regulation of synaptic transmission (GO:0050806)2.89598977
107potassium ion homeostasis (GO:0055075)2.89574336
108prepulse inhibition (GO:0060134)2.88544238
109regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.87182746
110neuronal ion channel clustering (GO:0045161)2.86922847
111dendritic spine organization (GO:0097061)2.85425801
112regulation of synaptic transmission (GO:0050804)2.84613293
113chemosensory behavior (GO:0007635)2.83864324
114regulation of calcium ion-dependent exocytosis (GO:0017158)2.82985268
115regulation of clathrin-mediated endocytosis (GO:2000369)2.82776179
116cellular sodium ion homeostasis (GO:0006883)2.81850602
117calcium ion-dependent exocytosis (GO:0017156)2.79961605
118axonal fasciculation (GO:0007413)2.79757436
119signal release (GO:0023061)2.79549926
120cell differentiation in hindbrain (GO:0021533)2.78940656
121axon cargo transport (GO:0008088)2.78841620
122positive regulation of neurotransmitter secretion (GO:0001956)2.78750174
123cerebellar granule cell differentiation (GO:0021707)2.78431615

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.60943547
2GBX2_23144817_ChIP-Seq_PC3_Human3.38261936
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.95739178
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.90231383
5REST_21632747_ChIP-Seq_MESCs_Mouse2.85312536
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.71429371
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.68772787
8DROSHA_22980978_ChIP-Seq_HELA_Human2.66296491
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52285331
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52285331
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49101664
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.43861518
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.42590898
14REST_18959480_ChIP-ChIP_MESCs_Mouse2.42196014
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37124372
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.29424948
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28411644
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.18757526
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.15055771
20CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.12898920
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.11727850
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10278663
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06818946
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.04695127
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.02635817
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.99605100
27RNF2_27304074_Chip-Seq_ESCs_Mouse1.98986449
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98470729
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.87988559
30SMAD4_21799915_ChIP-Seq_A2780_Human1.67285902
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.65393976
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65178627
33AR_21572438_ChIP-Seq_LNCaP_Human1.64734481
34POU3F2_20337985_ChIP-ChIP_501MEL_Human1.62194853
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.53427673
36ZNF274_21170338_ChIP-Seq_K562_Hela1.45443460
37TAF15_26573619_Chip-Seq_HEK293_Human1.43840736
38CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.43091155
39SOX2_21211035_ChIP-Seq_LN229_Gbm1.42372597
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40748850
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.40533075
42RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.40378479
43ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.36907882
44AR_19668381_ChIP-Seq_PC3_Human1.31844337
45DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31666701
46STAT3_23295773_ChIP-Seq_U87_Human1.31136752
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30866540
48PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30546503
49RBPJ_22232070_ChIP-Seq_NCS_Mouse1.26942558
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25271377
51TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22475686
52AR_25329375_ChIP-Seq_VCAP_Human1.21624612
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21385644
54FUS_26573619_Chip-Seq_HEK293_Human1.19803610
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.19457282
56EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.16878412
57PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16551964
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.16405102
59* P300_19829295_ChIP-Seq_ESCs_Human1.16066356
60ZFP281_18757296_ChIP-ChIP_E14_Mouse1.15921847
61TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13879824
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.13312398
63KDM2B_26808549_Chip-Seq_K562_Human1.12587603
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12481390
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.12458323
66LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11218985
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11069899
68TCF4_23295773_ChIP-Seq_U87_Human1.10189982
69YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09895809
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09704644
71ZFP57_27257070_Chip-Seq_ESCs_Mouse1.09489653
72CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09228295
73EP300_21415370_ChIP-Seq_HL-1_Mouse1.08627358
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.08031803
75CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07453201
76SOX9_26525672_Chip-Seq_HEART_Mouse1.06528417
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.06281728
78TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06261751
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.05644449
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05315417
81P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05067647
82WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05005804
83FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.03428770
84AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02517719
85AHR_22903824_ChIP-Seq_MCF-7_Human1.02008163
86GATA1_26923725_Chip-Seq_HPCs_Mouse0.99979673
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.99096632
88GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99047561
89RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.98462487
90PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98010812
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97368915
92IGF1R_20145208_ChIP-Seq_DFB_Human0.97058834
93SMAD3_21741376_ChIP-Seq_ESCs_Human0.96937655
94RING1B_27294783_Chip-Seq_NPCs_Mouse0.95460909
95TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95000858
96KDM2B_26808549_Chip-Seq_REH_Human0.94988619
97STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93829298
98TET1_21490601_ChIP-Seq_MESCs_Mouse0.93484081
99CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93375923
100TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.93214214
101GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91575277
102JUN_21703547_ChIP-Seq_K562_Human0.91570640
103TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91334651
104SMAD3_21741376_ChIP-Seq_HESCs_Human0.91265995
105UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90696236
106CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90539001
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89824439
108RUNX2_22187159_ChIP-Seq_PCA_Human0.89187305
109RXR_22108803_ChIP-Seq_LS180_Human0.89171640
110TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.88763972
111KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88687937
112DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.85515421
113ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.84904323
114BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.84770588
115CBX2_27304074_Chip-Seq_ESCs_Mouse0.84016188
116TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83239660
117BMI1_23680149_ChIP-Seq_NPCS_Mouse0.82810880
118RNF2_27304074_Chip-Seq_NSC_Mouse0.82561342
119CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82497183
120PRDM14_20953172_ChIP-Seq_ESCs_Human0.82478158

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.30997544
2MP0003880_abnormal_central_pattern4.25042938
3MP0003635_abnormal_synaptic_transmissio4.03774117
4MP0004270_analgesia3.75183577
5MP0009046_muscle_twitch3.22871867
6MP0009745_abnormal_behavioral_response3.22832627
7MP0002063_abnormal_learning/memory/cond3.14894412
8MP0002064_seizures3.13742732
9MP0001968_abnormal_touch/_nociception2.94010011
10MP0005423_abnormal_somatic_nervous2.69140114
11MP0002734_abnormal_mechanical_nocicepti2.68493244
12MP0002572_abnormal_emotion/affect_behav2.63960233
13MP0002272_abnormal_nervous_system2.55656856
14MP0009780_abnormal_chondrocyte_physiolo2.55245225
15MP0002822_catalepsy2.46728647
16MP0001486_abnormal_startle_reflex2.40104313
17MP0002909_abnormal_adrenal_gland2.27721860
18MP0002735_abnormal_chemical_nociception2.21614662
19MP0002736_abnormal_nociception_after2.18114979
20MP0001501_abnormal_sleep_pattern2.17647808
21MP0002733_abnormal_thermal_nociception2.02048019
22MP0008569_lethality_at_weaning1.99133614
23MP0005646_abnormal_pituitary_gland1.96823887
24MP0002067_abnormal_sensory_capabilities1.96445121
25MP0001970_abnormal_pain_threshold1.93487893
26MP0001440_abnormal_grooming_behavior1.88099536
27MP0004811_abnormal_neuron_physiology1.79726627
28MP0004858_abnormal_nervous_system1.77021949
29MP0003329_amyloid_beta_deposits1.75255499
30MP0003787_abnormal_imprinting1.69078175
31MP0004924_abnormal_behavior1.67658384
32MP0005386_behavior/neurological_phenoty1.67658384
33MP0002184_abnormal_innervation1.65788862
34MP0003879_abnormal_hair_cell1.64663764
35MP0002557_abnormal_social/conspecific_i1.63338353
36MP0000955_abnormal_spinal_cord1.56194113
37MP0003122_maternal_imprinting1.51225996
38MP0006276_abnormal_autonomic_nervous1.50266427
39MP0004885_abnormal_endolymph1.49184916
40MP0003283_abnormal_digestive_organ1.47475320
41MP0004043_abnormal_pH_regulation1.44792685
42MP0000778_abnormal_nervous_system1.44026586
43MP0000013_abnormal_adipose_tissue1.43049420
44MP0001984_abnormal_olfaction1.42615678
45MP0005645_abnormal_hypothalamus_physiol1.41887609
46MP0003633_abnormal_nervous_system1.41633142
47MP0002066_abnormal_motor_capabilities/c1.40132408
48MP0002882_abnormal_neuron_morphology1.35952514
49MP0002837_dystrophic_cardiac_calcinosis1.29046359
50MP0004142_abnormal_muscle_tone1.23926521
51MP0001502_abnormal_circadian_rhythm1.21286055
52MP0000751_myopathy1.20948946
53MP0008877_abnormal_DNA_methylation1.15689279
54MP0003631_nervous_system_phenotype1.12522609
55MP0008961_abnormal_basal_metabolism1.11967538
56MP0002229_neurodegeneration1.10345405
57MP0003121_genomic_imprinting1.10024881
58MP0000569_abnormal_digit_pigmentation1.08774623
59MP0010386_abnormal_urinary_bladder1.07558781
60MP0005551_abnormal_eye_electrophysiolog1.03867926
61MP0004147_increased_porphyrin_level1.01598695
62MP0004145_abnormal_muscle_electrophysio1.01540357
63MP0002152_abnormal_brain_morphology1.00355668
64MP0002069_abnormal_eating/drinking_beha0.96931919
65MP0005535_abnormal_body_temperature0.95260466
66MP0004215_abnormal_myocardial_fiber0.94663490
67MP0004233_abnormal_muscle_weight0.94624418
68MP0004085_abnormal_heartbeat0.93927632
69MP0003690_abnormal_glial_cell0.93841567
70MP0008872_abnormal_physiological_respon0.92460766
71MP0003634_abnormal_glial_cell0.88628005
72MP0001529_abnormal_vocalization0.88007008
73MP0001177_atelectasis0.87272106
74MP0003172_abnormal_lysosome_physiology0.86426078
75MP0001905_abnormal_dopamine_level0.86348482
76MP0008874_decreased_physiological_sensi0.83600757
77MP0005187_abnormal_penis_morphology0.79357133
78MP0003632_abnormal_nervous_system0.75685088
79MP0001299_abnormal_eye_distance/0.75593611
80MP0003137_abnormal_impulse_conducting0.75306181
81MP0000566_synostosis0.74487500
82MP0001346_abnormal_lacrimal_gland0.73842908
83MP0002234_abnormal_pharynx_morphology0.73502355
84MP0002090_abnormal_vision0.73454084
85MP0003075_altered_response_to0.71723688
86MP0000604_amyloidosis0.71642756
87MP0003861_abnormal_nervous_system0.70611551
88MP0005394_taste/olfaction_phenotype0.69716382
89MP0005499_abnormal_olfactory_system0.69716382
90MP0001963_abnormal_hearing_physiology0.68403402
91MP0003183_abnormal_peptide_metabolism0.68385373
92MP0000631_abnormal_neuroendocrine_gland0.67018284
93MP0000920_abnormal_myelination0.65737705
94MP0003646_muscle_fatigue0.64960279
95MP0001188_hyperpigmentation0.64734984
96MP0004130_abnormal_muscle_cell0.64444414
97MP0002638_abnormal_pupillary_reflex0.63992513
98MP0006072_abnormal_retinal_apoptosis0.63673210
99MP0004484_altered_response_of0.63638571
100MP0002752_abnormal_somatic_nervous0.63430522
101MP0003123_paternal_imprinting0.62933544
102MP0010769_abnormal_survival0.62794107
103MP0001943_abnormal_respiration0.62436982
104MP0002876_abnormal_thyroid_physiology0.60650820
105MP0002082_postnatal_lethality0.60572731
106MP0010770_preweaning_lethality0.60572731
107MP0010768_mortality/aging0.59573544
108MP0000747_muscle_weakness0.59539717
109MP0001664_abnormal_digestion0.57869462
110MP0004742_abnormal_vestibular_system0.57183067
111MP0001485_abnormal_pinna_reflex0.56990891
112MP0005167_abnormal_blood-brain_barrier0.56781353
113MP0005623_abnormal_meninges_morphology0.56266387
114MP0001986_abnormal_taste_sensitivity0.56101127
115MP0003956_abnormal_body_size0.52668007
116MP0000026_abnormal_inner_ear0.52435132

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.06793556
2Myokymia (HP:0002411)6.25827158
3Focal seizures (HP:0007359)5.32641663
4Visual hallucinations (HP:0002367)5.21558205
5Epileptic encephalopathy (HP:0200134)4.54520898
6Atonic seizures (HP:0010819)4.45837973
7Progressive cerebellar ataxia (HP:0002073)4.21280646
8Febrile seizures (HP:0002373)4.10722678
9Action tremor (HP:0002345)4.10526667
10Absence seizures (HP:0002121)4.08324693
11Generalized tonic-clonic seizures (HP:0002069)3.78775949
12Dialeptic seizures (HP:0011146)3.63335313
13Supranuclear gaze palsy (HP:0000605)3.60185938
14Ankle clonus (HP:0011448)3.55351502
15Depression (HP:0000716)3.42460871
16Impaired vibration sensation in the lower limbs (HP:0002166)3.31421769
17Papilledema (HP:0001085)3.23917476
18Poor eye contact (HP:0000817)3.23186468
19Postural instability (HP:0002172)3.21316249
20Pheochromocytoma (HP:0002666)3.16048488
21Dysdiadochokinesis (HP:0002075)3.13736630
22Gaze-evoked nystagmus (HP:0000640)3.10946771
23Impaired social interactions (HP:0000735)3.07355467
24Abnormal social behavior (HP:0012433)3.07355467
25Urinary bladder sphincter dysfunction (HP:0002839)3.06543661
26Truncal ataxia (HP:0002078)3.04984052
27Anxiety (HP:0000739)3.03242674
28Broad-based gait (HP:0002136)3.02849418
29Abnormality of the lower motor neuron (HP:0002366)2.93600323
30Ventricular fibrillation (HP:0001663)2.91137220
31Dysmetria (HP:0001310)2.86448082
32Akinesia (HP:0002304)2.86420658
33Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.80574199
34Hyperventilation (HP:0002883)2.79249881
35Dysmetric saccades (HP:0000641)2.78251309
36Obstructive sleep apnea (HP:0002870)2.77860201
37Mutism (HP:0002300)2.77315374
38Genetic anticipation (HP:0003743)2.76743152
39Impaired smooth pursuit (HP:0007772)2.74836932
40Cerebral hypomyelination (HP:0006808)2.68717143
41Neuroendocrine neoplasm (HP:0100634)2.67977938
42Sleep apnea (HP:0010535)2.65339246
43Urinary urgency (HP:0000012)2.65129704
44Torticollis (HP:0000473)2.64961979
45Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.60925405
46Degeneration of the lateral corticospinal tracts (HP:0002314)2.60925405
47Hemiplegia (HP:0002301)2.58497894
48Spastic gait (HP:0002064)2.58468339
49Epileptiform EEG discharges (HP:0011182)2.58312926
50Scanning speech (HP:0002168)2.55646421
51Bradykinesia (HP:0002067)2.53469726
52Intention tremor (HP:0002080)2.51603833
53EEG with generalized epileptiform discharges (HP:0011198)2.51209708
54Agitation (HP:0000713)2.50510614
55Drooling (HP:0002307)2.48025082
56Excessive salivation (HP:0003781)2.48025082
57Progressive inability to walk (HP:0002505)2.46917968
58Focal dystonia (HP:0004373)2.44490067
59* Abnormal eating behavior (HP:0100738)2.44234925
60Hypsarrhythmia (HP:0002521)2.43782866
61Abnormality of ocular smooth pursuit (HP:0000617)2.39217648
62Status epilepticus (HP:0002133)2.38113182
63Amblyopia (HP:0000646)2.33317890
64Hemiparesis (HP:0001269)2.30793960
65Bundle branch block (HP:0011710)2.29627830
66Impaired vibratory sensation (HP:0002495)2.27622123
67Morphological abnormality of the pyramidal tract (HP:0002062)2.26872726
68Diplopia (HP:0000651)2.26671028
69Abnormality of binocular vision (HP:0011514)2.26671028
70Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.25429378
71Insidious onset (HP:0003587)2.22871757
72Termporal pattern (HP:0011008)2.22871757
73Craniofacial dystonia (HP:0012179)2.20482397
74Resting tremor (HP:0002322)2.18434360
75Lower limb muscle weakness (HP:0007340)2.17916929
76Peripheral hypomyelination (HP:0007182)2.11995367
77Clonus (HP:0002169)2.10685817
78Megalencephaly (HP:0001355)2.09387164
79Fetal akinesia sequence (HP:0001989)2.07615588
80Stereotypic behavior (HP:0000733)2.07117391
81Failure to thrive in infancy (HP:0001531)2.05019817
82Insomnia (HP:0100785)2.02351150
83Amyotrophic lateral sclerosis (HP:0007354)2.00656946
84Neoplasm of the peripheral nervous system (HP:0100007)2.00405139
85Delusions (HP:0000746)2.00368806
86Abnormality of the corticospinal tract (HP:0002492)2.00310432
87Postural tremor (HP:0002174)1.99803498
88Abnormal EKG (HP:0003115)1.99481849
89Spastic tetraplegia (HP:0002510)1.99183783
90Polyphagia (HP:0002591)1.99143510
91Abnormality of saccadic eye movements (HP:0000570)1.95742632
92Gait ataxia (HP:0002066)1.95718340
93Neurofibrillary tangles (HP:0002185)1.95413755
94Generalized myoclonic seizures (HP:0002123)1.95239838
95Absent speech (HP:0001344)1.93510241
96Central scotoma (HP:0000603)1.93456659
97Neuronal loss in central nervous system (HP:0002529)1.93255309
98CNS hypomyelination (HP:0003429)1.93237865
99Cerebral inclusion bodies (HP:0100314)1.91134623
100Limb dystonia (HP:0002451)1.90791079
101Pointed chin (HP:0000307)1.89959004
102Blue irides (HP:0000635)1.88968201
103Prolonged QT interval (HP:0001657)1.88379251
104Neoplasm of the heart (HP:0100544)1.87484464
105Spastic tetraparesis (HP:0001285)1.86535508
106Rigidity (HP:0002063)1.86195776
107Incomplete penetrance (HP:0003829)1.86082489
108Paraplegia (HP:0010550)1.85618787
109Psychosis (HP:0000709)1.84405036
110Apathy (HP:0000741)1.83718008
111Tetraplegia (HP:0002445)1.82972154
112Hypercortisolism (HP:0001578)1.81543948
113Annular pancreas (HP:0001734)1.80618349
114Spastic paraplegia (HP:0001258)1.78336810
115Gait imbalance (HP:0002141)1.78110304
116Hypoventilation (HP:0002791)1.76752139
117Choreoathetosis (HP:0001266)1.76750029
118Inability to walk (HP:0002540)1.76535102
119Increased circulating renin level (HP:0000848)1.76267435
120Spinal canal stenosis (HP:0003416)1.75761508
121Aplasia involving bones of the upper limbs (HP:0009823)1.75658034
122Aplasia of the phalanges of the hand (HP:0009802)1.75658034
123Aplasia involving bones of the extremities (HP:0009825)1.75658034
124Hammertoe (HP:0001765)1.72763038
125Rapidly progressive (HP:0003678)1.71393263

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.54707779
2MAP3K93.73239284
3MAP3K43.34725309
4EPHA43.10702808
5MARK13.06056033
6MINK12.77870633
7MAP2K72.67045420
8PRKD32.42409818
9PAK62.37714850
10DAPK22.32355421
11MAP2K42.11673183
12CAMKK12.05339491
13KSR22.03341795
14NTRK21.99799277
15MAP3K121.90569941
16NTRK11.85585642
17MAP3K21.66352244
18STK381.65599564
19CASK1.55221547
20CDK191.52118560
21CDK51.51571790
22DAPK11.39776958
23CAMKK21.38825410
24KSR11.37968534
25LMTK21.32469504
26PHKG11.24858378
27PHKG21.24858378
28PRKCG1.24762938
29NEK11.23225420
30PRPF4B1.22565063
31PLK21.22404763
32SGK4941.20432392
33SGK2231.20432392
34GRK51.19122389
35PRKCH1.15859069
36UHMK11.15512705
37MAPK131.14010416
38SGK21.10959468
39RIPK41.06051844
40LATS21.04568632
41SGK31.04533986
42BCR1.01270945
43RET1.00098385
44PAK30.98151001
45ARAF0.95831053
46TAOK10.95538195
47TNIK0.94818585
48PINK10.93609172
49TYRO30.93582256
50SCYL20.92516831
51FGFR20.91949895
52ERBB30.91234938
53FES0.89887828
54OXSR10.89504697
55CAMK10.86917564
56ALK0.86866365
57STK110.86823833
58CAMK2A0.86330222
59WNK10.86007958
60CDK180.85485784
61CDC42BPA0.85102816
62CDK150.83399068
63CDK140.81149920
64PNCK0.80650139
65WNK30.79052193
66SIK20.77486380
67MAP3K10.75931260
68TRIM280.75779811
69LIMK10.73611614
70PDK10.70963558
71CDK11A0.70288967
72AKT30.68096445
73SGK10.66985750
74PDPK10.65384609
75CAMK2B0.65085778
76RIPK10.62081983
77MAP3K130.60761280
78FER0.60009593
79PKN10.59717896
80PDK30.59682041
81PDK40.59682041
82RPS6KA30.56055552
83BRSK10.55081915
84MARK20.55003639
85CSNK1G20.54918828
86DYRK1A0.54168023
87CSNK1A1L0.53391987
88TNK20.53213577
89NEK60.53197461
90CSNK1G30.52379576
91INSRR0.51713654
92MAPK120.51161045
93RAF10.50847101
94PRKCE0.50520298
95CAMK1G0.49902567
96WNK40.49047063
97CSNK1G10.48884340
98ROCK20.48848560
99CAMK2D0.48019644
100CAMK2G0.46722574
101PRKCZ0.46619055
102CAMK40.46373555
103MAPK100.45746862
104MAP3K70.45348643
105RPS6KA20.45102424
106STK390.44755750
107DYRK20.43429979
108MAP2K10.42860515
109CSNK1E0.42365536
110CSNK1D0.42238009
111PTK2B0.41914140
112MAPKAPK50.40575269
113CCNB10.39857056
114RPS6KB10.38996770
115FYN0.38058817
116PRKG10.37210691
117OBSCN0.36621972
118PDGFRA0.35845238
119BMPR20.34551517
120PRKAA10.33798121
121PRKCB0.33749135
122PRKACA0.32880518
123FRK0.29466151

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.54784385
2Nicotine addiction_Homo sapiens_hsa050333.40772253
3GABAergic synapse_Homo sapiens_hsa047272.75709282
4Circadian entrainment_Homo sapiens_hsa047132.59564361
5Olfactory transduction_Homo sapiens_hsa047402.58837921
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.46832334
7Long-term potentiation_Homo sapiens_hsa047202.43409032
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.42845563
9Morphine addiction_Homo sapiens_hsa050322.34994943
10Glutamatergic synapse_Homo sapiens_hsa047242.34093292
11Amphetamine addiction_Homo sapiens_hsa050312.31406648
12Insulin secretion_Homo sapiens_hsa049112.31313927
13Dopaminergic synapse_Homo sapiens_hsa047282.08068840
14Salivary secretion_Homo sapiens_hsa049701.98028063
15Gastric acid secretion_Homo sapiens_hsa049711.81863263
16Cholinergic synapse_Homo sapiens_hsa047251.79097927
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78918429
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.75066454
19Taste transduction_Homo sapiens_hsa047421.67279466
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65586461
21Cocaine addiction_Homo sapiens_hsa050301.61446148
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.59128255
23Nitrogen metabolism_Homo sapiens_hsa009101.58576946
24Collecting duct acid secretion_Homo sapiens_hsa049661.52605204
25Renin secretion_Homo sapiens_hsa049241.52408842
26Type II diabetes mellitus_Homo sapiens_hsa049301.50573277
27Long-term depression_Homo sapiens_hsa047301.49035279
28Oxytocin signaling pathway_Homo sapiens_hsa049211.44436874
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.43322805
30Serotonergic synapse_Homo sapiens_hsa047261.42813171
31Calcium signaling pathway_Homo sapiens_hsa040201.36797203
32GnRH signaling pathway_Homo sapiens_hsa049121.31574060
33Gap junction_Homo sapiens_hsa045401.23501507
34cAMP signaling pathway_Homo sapiens_hsa040241.18974052
35Vibrio cholerae infection_Homo sapiens_hsa051101.16769434
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14811376
37Vitamin B6 metabolism_Homo sapiens_hsa007501.13304820
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10482974
39Estrogen signaling pathway_Homo sapiens_hsa049151.09909078
40Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.03581183
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99671969
42Glioma_Homo sapiens_hsa052140.98931210
43cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97518651
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.94120539
45ErbB signaling pathway_Homo sapiens_hsa040120.93457057
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.90484901
47Thyroid hormone synthesis_Homo sapiens_hsa049180.88424636
48Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86756320
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86474242
50Pancreatic secretion_Homo sapiens_hsa049720.86183145
51Phototransduction_Homo sapiens_hsa047440.85798098
52Melanogenesis_Homo sapiens_hsa049160.85540713
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.82643996
54Cardiac muscle contraction_Homo sapiens_hsa042600.81883572
55Dorso-ventral axis formation_Homo sapiens_hsa043200.78218319
56Dilated cardiomyopathy_Homo sapiens_hsa054140.77747281
57Axon guidance_Homo sapiens_hsa043600.77697944
58Oocyte meiosis_Homo sapiens_hsa041140.76917915
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75482412
60Glucagon signaling pathway_Homo sapiens_hsa049220.74714410
61Bile secretion_Homo sapiens_hsa049760.74561605
62Type I diabetes mellitus_Homo sapiens_hsa049400.70380060
63Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70018018
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.67097936
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66968558
66Butanoate metabolism_Homo sapiens_hsa006500.62820336
67mTOR signaling pathway_Homo sapiens_hsa041500.61498526
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.61272815
69MAPK signaling pathway_Homo sapiens_hsa040100.60981094
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.60041778
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57862829
72Circadian rhythm_Homo sapiens_hsa047100.56263365
73Insulin signaling pathway_Homo sapiens_hsa049100.56209103
74Choline metabolism in cancer_Homo sapiens_hsa052310.55763716
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53805955
76Arginine biosynthesis_Homo sapiens_hsa002200.50444712
772-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.50180038
78Inositol phosphate metabolism_Homo sapiens_hsa005620.50064364
79Wnt signaling pathway_Homo sapiens_hsa043100.49515975
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49072142
81AMPK signaling pathway_Homo sapiens_hsa041520.48302871
82Endocytosis_Homo sapiens_hsa041440.48049931
83Tight junction_Homo sapiens_hsa045300.47225230
84Hippo signaling pathway_Homo sapiens_hsa043900.47016487
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46759244
86Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46386259
87Arginine and proline metabolism_Homo sapiens_hsa003300.46319431
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46075722
89Prion diseases_Homo sapiens_hsa050200.45923730
90Ras signaling pathway_Homo sapiens_hsa040140.45738086
91Endometrial cancer_Homo sapiens_hsa052130.45255539
92Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.43277070
93Fatty acid biosynthesis_Homo sapiens_hsa000610.42467322
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42221165
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41884663
96VEGF signaling pathway_Homo sapiens_hsa043700.40580328
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40014075
98Alcoholism_Homo sapiens_hsa050340.39599413
99Rap1 signaling pathway_Homo sapiens_hsa040150.39311871
100beta-Alanine metabolism_Homo sapiens_hsa004100.38640325
101Regulation of autophagy_Homo sapiens_hsa041400.35700425
102Sphingolipid signaling pathway_Homo sapiens_hsa040710.35170418
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34105376
104Renal cell carcinoma_Homo sapiens_hsa052110.34011322
105Ovarian steroidogenesis_Homo sapiens_hsa049130.32499484
106Histidine metabolism_Homo sapiens_hsa003400.32493021
107Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32330734
108Mineral absorption_Homo sapiens_hsa049780.31747416
109Non-small cell lung cancer_Homo sapiens_hsa052230.31396204
110Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29295294
111Maturity onset diabetes of the young_Homo sapiens_hsa049500.29290372
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.26323648
113Central carbon metabolism in cancer_Homo sapiens_hsa052300.25434164
114Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.24955609

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