SYP

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 integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.23272927
2* regulation of short-term neuronal synaptic plasticity (GO:0048172)6.14646964
3* synaptic vesicle maturation (GO:0016188)6.10054232
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.00706052
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.84507754
6glutamate secretion (GO:0014047)5.82466248
7synaptic vesicle exocytosis (GO:0016079)5.73583116
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.55581234
9regulation of synaptic vesicle exocytosis (GO:2000300)5.47345744
10vocalization behavior (GO:0071625)5.41860902
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.21079452
12regulation of glutamate receptor signaling pathway (GO:1900449)4.96396573
13regulation of synaptic vesicle transport (GO:1902803)4.87754856
14neurotransmitter secretion (GO:0007269)4.81406239
15exploration behavior (GO:0035640)4.73249729
16protein localization to synapse (GO:0035418)4.72322875
17cerebellar granule cell differentiation (GO:0021707)4.64908734
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.62119747
19neuronal action potential propagation (GO:0019227)4.56700620
20* regulation of neuronal synaptic plasticity (GO:0048168)4.48675742
21cellular potassium ion homeostasis (GO:0030007)4.40395209
22layer formation in cerebral cortex (GO:0021819)4.40119189
23proline transport (GO:0015824)4.29172454
24sodium ion export (GO:0071436)4.26322202
25* regulation of long-term neuronal synaptic plasticity (GO:0048169)4.22287360
26synaptic transmission, glutamatergic (GO:0035249)4.21315641
27gamma-aminobutyric acid transport (GO:0015812)4.19348519
28neuron cell-cell adhesion (GO:0007158)4.18471639
29regulation of synapse structural plasticity (GO:0051823)4.16547253
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.11982407
31neurotransmitter-gated ion channel clustering (GO:0072578)4.08234883
32positive regulation of dendritic spine development (GO:0060999)4.06830916
33dendritic spine morphogenesis (GO:0060997)4.05704342
34regulation of voltage-gated calcium channel activity (GO:1901385)4.04731181
35amino acid import (GO:0043090)4.03621987
36long-term memory (GO:0007616)4.03515568
37potassium ion homeostasis (GO:0055075)4.00347274
38glutamate receptor signaling pathway (GO:0007215)3.98381185
39positive regulation of membrane potential (GO:0045838)3.94475520
40neuron-neuron synaptic transmission (GO:0007270)3.87666637
41neurotransmitter transport (GO:0006836)3.86831440
42activation of protein kinase A activity (GO:0034199)3.86672729
43negative regulation of dendrite morphogenesis (GO:0050774)3.84613002
44regulation of synapse maturation (GO:0090128)3.82651959
45cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.81292760
46positive regulation of dendritic spine morphogenesis (GO:0061003)3.79974604
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.79090182
48central nervous system myelination (GO:0022010)3.79088519
49axon ensheathment in central nervous system (GO:0032291)3.79088519
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.75273034
51neuromuscular process controlling posture (GO:0050884)3.69064480
52cerebellar Purkinje cell differentiation (GO:0021702)3.64338430
53regulation of postsynaptic membrane potential (GO:0060078)3.62610309
54cell communication by electrical coupling (GO:0010644)3.60721227
55regulation of neurotransmitter secretion (GO:0046928)3.60293046
56* regulation of synaptic plasticity (GO:0048167)3.56994618
57neuromuscular process controlling balance (GO:0050885)3.55206129
58glycine transport (GO:0015816)3.54567120
59regulation of neurotransmitter levels (GO:0001505)3.54526221
60positive regulation of synapse maturation (GO:0090129)3.53470205
61regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.52496098
62synaptic vesicle endocytosis (GO:0048488)3.48216473
63regulation of dendritic spine development (GO:0060998)3.46321840
64long-term synaptic potentiation (GO:0060291)3.41159019
65neuromuscular synaptic transmission (GO:0007274)3.40433578
66positive regulation of synaptic transmission, GABAergic (GO:0032230)3.39462254
67regulation of vesicle fusion (GO:0031338)3.37962371
68regulation of dendritic spine morphogenesis (GO:0061001)3.33979818
69positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.33232507
70regulation of neurotransmitter transport (GO:0051588)3.29371389
71positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.27067415
72regulation of ARF protein signal transduction (GO:0032012)3.26746802
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.26513885
74neuron recognition (GO:0008038)3.24058768
75transmission of nerve impulse (GO:0019226)3.22453671
76innervation (GO:0060384)3.21573959
77vesicle transport along microtubule (GO:0047496)3.21247263
78positive regulation of neurotransmitter secretion (GO:0001956)3.21162465
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.20991624
80positive regulation of neurotransmitter transport (GO:0051590)3.20961228
81dendrite morphogenesis (GO:0048813)3.20721517
82chemosensory behavior (GO:0007635)3.20304890
83gamma-aminobutyric acid signaling pathway (GO:0007214)3.19386310
84acidic amino acid transport (GO:0015800)3.19036321
85postsynaptic membrane organization (GO:0001941)3.17086048
86auditory behavior (GO:0031223)3.16973139
87establishment of synaptic vesicle localization (GO:0097480)3.16633035
88synaptic vesicle transport (GO:0048489)3.16633035
89cerebellar Purkinje cell layer development (GO:0021680)3.16150183
90vesicle docking involved in exocytosis (GO:0006904)3.16042681
91response to auditory stimulus (GO:0010996)3.15653941
92cell differentiation in hindbrain (GO:0021533)3.15331644
93potassium ion import (GO:0010107)3.13873491
94detection of calcium ion (GO:0005513)3.13696017
95membrane hyperpolarization (GO:0060081)3.12900303
96G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.12763952
97presynaptic membrane organization (GO:0097090)3.11122837
98membrane depolarization during action potential (GO:0086010)3.10300983
99regulation of exocytosis (GO:0017157)3.09766534
100negative regulation of synaptic transmission, GABAergic (GO:0032229)3.09731189
101membrane depolarization (GO:0051899)3.09389086
102establishment of mitochondrion localization (GO:0051654)3.08186732
103regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.07467084
104L-amino acid import (GO:0043092)3.06262116
105neurotransmitter uptake (GO:0001504)3.05804001
106positive regulation of synaptic transmission (GO:0050806)3.05314453
107signal release (GO:0023061)3.04218081
108dendritic spine organization (GO:0097061)3.02168300
109neuromuscular process (GO:0050905)3.02106112
110cellular sodium ion homeostasis (GO:0006883)3.01465872
111axonal fasciculation (GO:0007413)3.00421398
112* regulation of synaptic transmission (GO:0050804)2.99737327
113synaptic transmission (GO:0007268)2.98834725
114intraspecies interaction between organisms (GO:0051703)2.98724782
115social behavior (GO:0035176)2.98724782
116neuronal ion channel clustering (GO:0045161)2.98568018
117regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98380858
118regulation of calcium ion-dependent exocytosis (GO:0017158)2.97601079
119behavioral fear response (GO:0001662)2.97461344
120behavioral defense response (GO:0002209)2.97461344
121negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.96922031
122learning (GO:0007612)2.96367054
123prepulse inhibition (GO:0060134)2.96067497

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.92187654
2GBX2_23144817_ChIP-Seq_PC3_Human3.13461942
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11804538
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07279669
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.98436288
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.90629102
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.83119100
8DROSHA_22980978_ChIP-Seq_HELA_Human2.76135225
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74168494
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74168494
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65694061
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61944021
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59118412
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54741782
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50248301
16* REST_18959480_ChIP-ChIP_MESCs_Mouse2.44068459
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41827037
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.37894706
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32144228
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.29970412
21CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.27958216
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.26801977
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.25876184
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.20893187
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.18468985
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.16205520
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.02172518
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.96717559
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.75409789
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.73251561
31AR_21572438_ChIP-Seq_LNCaP_Human1.72332647
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53514326
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.53358203
34SMAD4_21799915_ChIP-Seq_A2780_Human1.52440595
35RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.47075011
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.45608281
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.36051198
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.34118301
39ZNF274_21170338_ChIP-Seq_K562_Hela1.33466084
40KDM2B_26808549_Chip-Seq_K562_Human1.31122646
41NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29853805
42ZFP281_18757296_ChIP-ChIP_E14_Mouse1.29187448
43SOX2_21211035_ChIP-Seq_LN229_Gbm1.28978946
44AR_19668381_ChIP-Seq_PC3_Human1.26564201
45EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25714848
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22491303
47WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21808172
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21260659
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19587810
50WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16644828
51ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.16634431
52STAT3_23295773_ChIP-Seq_U87_Human1.15607803
53OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.15251301
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14877440
55AR_25329375_ChIP-Seq_VCAP_Human1.14239034
56GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13607879
57TAF15_26573619_Chip-Seq_HEK293_Human1.12851244
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.12221097
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10641592
60CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.10274829
61RING1B_27294783_Chip-Seq_NPCs_Mouse1.09697410
62TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08486132
63SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08168234
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.08076601
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07287678
66GATA1_26923725_Chip-Seq_HPCs_Mouse1.06922191
67P300_19829295_ChIP-Seq_ESCs_Human1.06647814
68RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03441124
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02742689
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02003015
71SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00566568
72* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99984260
73TOP2B_26459242_ChIP-Seq_MCF-7_Human0.98712743
74TCF4_23295773_ChIP-Seq_U87_Human0.98474349
75TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.97798550
76ZFP57_27257070_Chip-Seq_ESCs_Mouse0.96630606
77OCT4_19829295_ChIP-Seq_ESCs_Human0.96434746
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96319717
79* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96057293
80SMAD3_21741376_ChIP-Seq_ESCs_Human0.95840609
81TET1_21490601_ChIP-Seq_MESCs_Mouse0.95184599
82ARNT_22903824_ChIP-Seq_MCF-7_Human0.94759170
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94286575
84SMAD4_21741376_ChIP-Seq_HESCs_Human0.93538268
85TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.92994669
86ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92863273
87CTCF_27219007_Chip-Seq_Bcells_Human0.92567743
88AHR_22903824_ChIP-Seq_MCF-7_Human0.91714597
89DPY_21335234_ChIP-Seq_ESCs_Mouse0.91562267
90CBX2_27304074_Chip-Seq_ESCs_Mouse0.91286204
91SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91026797
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.90874197
93CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90435294
94PIAS1_25552417_ChIP-Seq_VCAP_Human0.89814641
95RXR_22108803_ChIP-Seq_LS180_Human0.89668283
96SRY_22984422_ChIP-ChIP_TESTIS_Rat0.89469974
97IGF1R_20145208_ChIP-Seq_DFB_Human0.88837694
98LXR_22292898_ChIP-Seq_THP-1_Human0.88576089
99TP53_20018659_ChIP-ChIP_R1E_Mouse0.87777542
100PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87125081
101VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86981218
102SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85772852
103AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85033146
104ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84448649
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83830249
106KLF4_19829295_ChIP-Seq_ESCs_Human0.83750153
107TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83402040
108DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.83179893
109RNF2_27304074_Chip-Seq_NSC_Mouse0.82725968
110PRDM14_20953172_ChIP-Seq_ESCs_Human0.82579821
111PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.82301666
112SMC4_20622854_ChIP-Seq_HELA_Human0.82204298
113GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81940431
114RUNX2_22187159_ChIP-Seq_PCA_Human0.81898240
115THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.81891300
116SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80847298
117KDM2B_26808549_Chip-Seq_SUP-B15_Human0.80546375
118BMI1_23680149_ChIP-Seq_NPCS_Mouse0.80111663
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.79164149
120SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78285740
121RUNX1_26923725_Chip-Seq_HPCs_Mouse0.77055994
122POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.76835834
123TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76835834
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.75486885
125FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.73799667
126LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70695244

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.10036496
2MP0003880_abnormal_central_pattern4.50113712
3MP0003635_abnormal_synaptic_transmissio4.32105401
4MP0004270_analgesia3.90517604
5MP0009745_abnormal_behavioral_response3.42191715
6MP0002063_abnormal_learning/memory/cond3.37232865
7MP0002064_seizures3.25453900
8MP0009046_muscle_twitch3.13921787
9MP0005423_abnormal_somatic_nervous3.01312799
10MP0001968_abnormal_touch/_nociception2.90939819
11MP0002572_abnormal_emotion/affect_behav2.79146064
12MP0002734_abnormal_mechanical_nocicepti2.70052509
13MP0002272_abnormal_nervous_system2.61064136
14MP0002822_catalepsy2.59087049
15MP0001486_abnormal_startle_reflex2.53054099
16MP0009780_abnormal_chondrocyte_physiolo2.30354343
17MP0001501_abnormal_sleep_pattern2.28922496
18MP0002736_abnormal_nociception_after2.10440741
19MP0008569_lethality_at_weaning2.05511195
20MP0002735_abnormal_chemical_nociception2.04997887
21MP0002909_abnormal_adrenal_gland2.04945200
22MP0002733_abnormal_thermal_nociception2.02877018
23MP0001440_abnormal_grooming_behavior1.97289891
24MP0001970_abnormal_pain_threshold1.95804874
25MP0003329_amyloid_beta_deposits1.95397882
26MP0004858_abnormal_nervous_system1.94264085
27MP0002067_abnormal_sensory_capabilities1.89093941
28MP0004811_abnormal_neuron_physiology1.87765488
29MP0002184_abnormal_innervation1.72956739
30MP0002557_abnormal_social/conspecific_i1.70459555
31MP0004924_abnormal_behavior1.66807342
32MP0005386_behavior/neurological_phenoty1.66807342
33MP0005646_abnormal_pituitary_gland1.66278470
34MP0003123_paternal_imprinting1.65623310
35MP0003879_abnormal_hair_cell1.64434035
36MP0004885_abnormal_endolymph1.59510255
37MP0000955_abnormal_spinal_cord1.57952086
38MP0000778_abnormal_nervous_system1.57945590
39MP0003787_abnormal_imprinting1.56273198
40MP0002882_abnormal_neuron_morphology1.46522333
41MP0003633_abnormal_nervous_system1.45836842
42MP0002066_abnormal_motor_capabilities/c1.43259227
43MP0001984_abnormal_olfaction1.40331219
44MP0006276_abnormal_autonomic_nervous1.35500273
45MP0001502_abnormal_circadian_rhythm1.34597861
46MP0005551_abnormal_eye_electrophysiolog1.32157442
47MP0005645_abnormal_hypothalamus_physiol1.31841193
48MP0003283_abnormal_digestive_organ1.26738640
49MP0003122_maternal_imprinting1.23196925
50MP0003631_nervous_system_phenotype1.20738949
51MP0004142_abnormal_muscle_tone1.15786057
52MP0002229_neurodegeneration1.11348889
53MP0008961_abnormal_basal_metabolism1.09352131
54MP0000569_abnormal_digit_pigmentation1.09344155
55MP0001905_abnormal_dopamine_level1.09159126
56MP0003075_altered_response_to1.08195314
57MP0002152_abnormal_brain_morphology1.07154171
58MP0000013_abnormal_adipose_tissue1.04700155
59MP0008877_abnormal_DNA_methylation1.02259045
60MP0008872_abnormal_physiological_respon0.99775880
61MP0002069_abnormal_eating/drinking_beha0.96498789
62MP0001348_abnormal_lacrimal_gland0.93852267
63MP0000751_myopathy0.93698376
64MP0010386_abnormal_urinary_bladder0.92698639
65MP0003690_abnormal_glial_cell0.92561413
66MP0004145_abnormal_muscle_electrophysio0.91936753
67MP0003172_abnormal_lysosome_physiology0.89764275
68MP0003121_genomic_imprinting0.89609416
69MP0003634_abnormal_glial_cell0.89467822
70MP0005535_abnormal_body_temperature0.89277775
71MP0002090_abnormal_vision0.89031103
72MP0001177_atelectasis0.89026641
73MP0004147_increased_porphyrin_level0.88927157
74MP0000604_amyloidosis0.88320742
75MP0008874_decreased_physiological_sensi0.88035820
76MP0003632_abnormal_nervous_system0.87382416
77MP0001986_abnormal_taste_sensitivity0.86524856
78MP0001485_abnormal_pinna_reflex0.86029645
79MP0001529_abnormal_vocalization0.85123550
80MP0004043_abnormal_pH_regulation0.81578250
81MP0004085_abnormal_heartbeat0.79777048
82MP0000920_abnormal_myelination0.78847433
83MP0006072_abnormal_retinal_apoptosis0.76339438
84MP0005499_abnormal_olfactory_system0.75930982
85MP0005394_taste/olfaction_phenotype0.75930982
86MP0002638_abnormal_pupillary_reflex0.73888020
87MP0002752_abnormal_somatic_nervous0.73500103
88MP0005167_abnormal_blood-brain_barrier0.73260426
89MP0001963_abnormal_hearing_physiology0.73089271
90MP0001346_abnormal_lacrimal_gland0.72335926
91MP0004233_abnormal_muscle_weight0.70769795
92MP0004742_abnormal_vestibular_system0.68649631
93MP0005253_abnormal_eye_physiology0.68444161
94MP0004215_abnormal_myocardial_fiber0.66007942
95MP0000631_abnormal_neuroendocrine_gland0.65051182
96MP0010234_abnormal_vibrissa_follicle0.64564236
97MP0004510_myositis0.62100951
98MP0004130_abnormal_muscle_cell0.61951542
99MP0005623_abnormal_meninges_morphology0.60172643
100MP0001299_abnormal_eye_distance/0.59549374
101MP0002837_dystrophic_cardiac_calcinosis0.57714676
102MP0001664_abnormal_digestion0.57588818
103MP0001188_hyperpigmentation0.57299693
104MP0003137_abnormal_impulse_conducting0.56793049
105MP0004484_altered_response_of0.55587850
106MP0005187_abnormal_penis_morphology0.53347057
107MP0010769_abnormal_survival0.53291417
108MP0010768_mortality/aging0.53109025
109MP0002082_postnatal_lethality0.53052958
110MP0010770_preweaning_lethality0.53052958
111MP0003861_abnormal_nervous_system0.52941773
112MP0001943_abnormal_respiration0.51256274
113MP0003956_abnormal_body_size0.51165354
114MP0002876_abnormal_thyroid_physiology0.47752267
115MP0000026_abnormal_inner_ear0.46822845
116MP0000639_abnormal_adrenal_gland0.43426641
117MP0000579_abnormal_nail_morphology0.41407456
118MP0003938_abnormal_ear_development0.41294211
119* MP0002873_normal_phenotype0.41101065

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.21790234
2Myokymia (HP:0002411)7.11267137
3Visual hallucinations (HP:0002367)5.77655668
4Focal seizures (HP:0007359)5.61500989
5Epileptic encephalopathy (HP:0200134)4.70378057
6Progressive cerebellar ataxia (HP:0002073)4.53887684
7Atonic seizures (HP:0010819)4.36183218
8Action tremor (HP:0002345)4.30962969
9Febrile seizures (HP:0002373)4.24210098
10Absence seizures (HP:0002121)4.05834603
11Generalized tonic-clonic seizures (HP:0002069)3.85959752
12Supranuclear gaze palsy (HP:0000605)3.83731614
13Ankle clonus (HP:0011448)3.75537560
14Dialeptic seizures (HP:0011146)3.65986626
15Papilledema (HP:0001085)3.58910660
16Depression (HP:0000716)3.58091624
17Cerebral hypomyelination (HP:0006808)3.50757755
18Impaired vibration sensation in the lower limbs (HP:0002166)3.47729906
19Poor eye contact (HP:0000817)3.41681796
20Mutism (HP:0002300)3.37479600
21Postural instability (HP:0002172)3.35755278
22Gaze-evoked nystagmus (HP:0000640)3.30678642
23Dysdiadochokinesis (HP:0002075)3.27223949
24Broad-based gait (HP:0002136)3.26042495
25Urinary bladder sphincter dysfunction (HP:0002839)3.24034478
26Abnormality of the lower motor neuron (HP:0002366)3.15227230
27Dysmetria (HP:0001310)3.14041527
28Anxiety (HP:0000739)3.11477743
29Abnormal social behavior (HP:0012433)3.10803989
30Impaired social interactions (HP:0000735)3.10803989
31Truncal ataxia (HP:0002078)3.06920290
32Akinesia (HP:0002304)3.04591109
33Genetic anticipation (HP:0003743)3.00508924
34Abnormal eating behavior (HP:0100738)2.97249703
35Impaired smooth pursuit (HP:0007772)2.88391041
36Ventricular fibrillation (HP:0001663)2.85161290
37Hemiplegia (HP:0002301)2.84152429
38Torticollis (HP:0000473)2.82235547
39Intention tremor (HP:0002080)2.76234083
40Urinary urgency (HP:0000012)2.71366167
41Spastic gait (HP:0002064)2.69493369
42Amblyopia (HP:0000646)2.65593225
43Focal dystonia (HP:0004373)2.64685587
44Bradykinesia (HP:0002067)2.62307916
45Abnormality of ocular smooth pursuit (HP:0000617)2.56945411
46Hyperventilation (HP:0002883)2.55422803
47Diplopia (HP:0000651)2.51295192
48Abnormality of binocular vision (HP:0011514)2.51295192
49Hemiparesis (HP:0001269)2.50943588
50Scanning speech (HP:0002168)2.50411334
51Excessive salivation (HP:0003781)2.50149856
52Drooling (HP:0002307)2.50149856
53Sleep apnea (HP:0010535)2.49863821
54Dysmetric saccades (HP:0000641)2.44549749
55Epileptiform EEG discharges (HP:0011182)2.44109274
56Megalencephaly (HP:0001355)2.42230163
57Progressive inability to walk (HP:0002505)2.41666267
58Stereotypic behavior (HP:0000733)2.40530148
59Neurofibrillary tangles (HP:0002185)2.40347022
60Agitation (HP:0000713)2.39981186
61Pheochromocytoma (HP:0002666)2.38017828
62Spastic tetraparesis (HP:0001285)2.37340268
63EEG with generalized epileptiform discharges (HP:0011198)2.37128404
64Peripheral hypomyelination (HP:0007182)2.33447101
65Diminished motivation (HP:0000745)2.32896828
66Cerebral inclusion bodies (HP:0100314)2.32881710
67Impaired vibratory sensation (HP:0002495)2.32672160
68Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.32154533
69Degeneration of the lateral corticospinal tracts (HP:0002314)2.32154533
70Craniofacial dystonia (HP:0012179)2.31234454
71Insomnia (HP:0100785)2.31062259
72Morphological abnormality of the pyramidal tract (HP:0002062)2.30198654
73Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.29704287
74Hypsarrhythmia (HP:0002521)2.29580436
75Annular pancreas (HP:0001734)2.28561937
76Status epilepticus (HP:0002133)2.27996918
77Bundle branch block (HP:0011710)2.24747843
78Lower limb muscle weakness (HP:0007340)2.22609769
79CNS hypomyelination (HP:0003429)2.19416508
80Abnormality of the corticospinal tract (HP:0002492)2.16724705
81Insidious onset (HP:0003587)2.15828114
82Termporal pattern (HP:0011008)2.15828114
83Fetal akinesia sequence (HP:0001989)2.15584770
84Choreoathetosis (HP:0001266)2.14963379
85Pointed chin (HP:0000307)2.14069553
86Generalized myoclonic seizures (HP:0002123)2.10892343
87Clonus (HP:0002169)2.09917074
88Central scotoma (HP:0000603)2.08197659
89Absent speech (HP:0001344)2.07006621
90Limb dystonia (HP:0002451)2.05389899
91Gait ataxia (HP:0002066)1.99649392
92Neuroendocrine neoplasm (HP:0100634)1.99228656
93Amyotrophic lateral sclerosis (HP:0007354)1.98058694
94Obstructive sleep apnea (HP:0002870)1.96601269
95Neuronal loss in central nervous system (HP:0002529)1.95898814
96Rigidity (HP:0002063)1.92984275
97Abnormality of saccadic eye movements (HP:0000570)1.92844459
98Tetraplegia (HP:0002445)1.91281459
99Abnormal EKG (HP:0003115)1.91258488
100Incomplete penetrance (HP:0003829)1.91115662
101Polyphagia (HP:0002591)1.88802526
102Inability to walk (HP:0002540)1.84998673
103Lower limb asymmetry (HP:0100559)1.82872144
104Rapidly progressive (HP:0003678)1.82349688
105Spastic tetraplegia (HP:0002510)1.80342109
106Psychosis (HP:0000709)1.80158869
107Increased circulating renin level (HP:0000848)1.80053955
108Delusions (HP:0000746)1.78537001
109Memory impairment (HP:0002354)1.78260692
110Resting tremor (HP:0002322)1.77775492
111Unsteady gait (HP:0002317)1.76496497
112Spinal canal stenosis (HP:0003416)1.76261401
113Hypercortisolism (HP:0001578)1.76093209
114Blue irides (HP:0000635)1.74980923
115Apathy (HP:0000741)1.74907629
116Inappropriate behavior (HP:0000719)1.74788368
117Postural tremor (HP:0002174)1.74109882
118Lower limb amyotrophy (HP:0007210)1.71130673
119Paraplegia (HP:0010550)1.67044170

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.56700678
2MAP3K94.21649391
3EPHA43.87278406
4MARK13.04005435
5MAP3K42.94288328
6MINK12.78099797
7DAPK22.70163632
8PAK62.55585259
9PRKD32.54369749
10MAP2K72.36798693
11KSR22.32335279
12CAMKK12.18721384
13NTRK22.11872489
14NTRK11.95150130
15MAP2K41.88248030
16MAP3K121.75687074
17CDK51.62346146
18DAPK11.59565600
19STK381.59563242
20KSR11.55686974
21CDK191.52031776
22GRK51.49806002
23MAP3K21.41292199
24PLK21.40757890
25RIPK41.33915386
26UHMK11.30146919
27PRKCG1.29115392
28ARAF1.28449881
29CAMKK21.26338322
30TAOK11.26094010
31PRPF4B1.25926625
32TYRO31.19278291
33TNIK1.18586160
34MAPK131.17284127
35SIK21.16107437
36MAP3K131.13282908
37FES1.09687077
38CAMK11.09274962
39CASK1.07240682
40LATS21.01832389
41PHKG10.99480858
42PHKG20.99480858
43STK110.99378107
44PINK10.99043975
45PNCK0.98434402
46CDK180.97556080
47CDK150.96887450
48SGK2230.96159810
49SGK4940.96159810
50RET0.93624290
51CDK140.91838230
52CAMK2A0.90795641
53LMTK20.89049750
54PAK30.86448517
55CDK11A0.84832876
56PDK10.79803685
57NEK10.78559171
58SGK30.78332848
59MAP3K10.77569840
60PKN10.77025739
61SGK20.75768745
62SCYL20.75526309
63RAF10.74577969
64MAP3K110.74200065
65CAMK2B0.71099446
66MARK20.70660617
67RIPK10.70190850
68PDPK10.68084379
69SGK10.66883444
70LIMK10.66534029
71CSNK1G20.66510760
72DYRK1A0.65854009
73OXSR10.65170524
74CDC42BPA0.62657616
75BRSK10.60984484
76PTK2B0.60409425
77BRAF0.59136377
78CAMK1G0.57521859
79TNK20.55153037
80RPS6KA30.54563164
81WNK10.52639453
82CAMK40.51873920
83PRKCZ0.51325513
84MAP3K70.50546886
85NEK60.50248118
86MAPK100.46954302
87FYN0.45293021
88CAMK2G0.43947583
89CCNB10.43159447
90CAMK2D0.41879968
91FGFR20.40962902
92PRKCE0.40257771
93FER0.40082301
94TESK10.40049730
95DAPK30.39647353
96* PRKCH0.38869819
97MAP2K10.36846097
98BMPR20.36121897
99ROCK20.36054017
100RPS6KA20.35751285
101MAP2K60.34898071
102CAMK1D0.34387519
103DYRK20.32685405
104WNK30.32154372
105* PRKCB0.29819898
106ERBB20.28875327
107CSNK1E0.28352252
108PRKG10.28265582
109* PRKCA0.27521273
110PRKACA0.27519133
111MAPK120.26706831
112DMPK0.26451113
113PRKACG0.25365438
114MAPK80.25340486

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.54327644
2Nicotine addiction_Homo sapiens_hsa050333.45039056
3Olfactory transduction_Homo sapiens_hsa047402.78690313
4GABAergic synapse_Homo sapiens_hsa047272.71799189
5Circadian entrainment_Homo sapiens_hsa047132.69129317
6Long-term potentiation_Homo sapiens_hsa047202.61266449
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52786045
8Glutamatergic synapse_Homo sapiens_hsa047242.51734661
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.46445698
10Morphine addiction_Homo sapiens_hsa050322.39947987
11Amphetamine addiction_Homo sapiens_hsa050312.38832824
12Insulin secretion_Homo sapiens_hsa049112.23578079
13Salivary secretion_Homo sapiens_hsa049702.16469183
14Dopaminergic synapse_Homo sapiens_hsa047282.11286286
15Gastric acid secretion_Homo sapiens_hsa049711.94738685
16Cholinergic synapse_Homo sapiens_hsa047251.93182403
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.88491353
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70499617
19Taste transduction_Homo sapiens_hsa047421.63699757
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.61860344
21Cocaine addiction_Homo sapiens_hsa050301.60208797
22Oxytocin signaling pathway_Homo sapiens_hsa049211.59068207
23Long-term depression_Homo sapiens_hsa047301.58187546
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.52465293
25Renin secretion_Homo sapiens_hsa049241.50787262
26Serotonergic synapse_Homo sapiens_hsa047261.50109172
27Nitrogen metabolism_Homo sapiens_hsa009101.46405666
28Calcium signaling pathway_Homo sapiens_hsa040201.46100409
29GnRH signaling pathway_Homo sapiens_hsa049121.42387833
30Vitamin B6 metabolism_Homo sapiens_hsa007501.42354799
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.41866396
32Type II diabetes mellitus_Homo sapiens_hsa049301.39504880
33Phototransduction_Homo sapiens_hsa047441.37346433
34Collecting duct acid secretion_Homo sapiens_hsa049661.31232325
35Gap junction_Homo sapiens_hsa045401.27322662
36cAMP signaling pathway_Homo sapiens_hsa040241.26563648
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26291952
38Estrogen signaling pathway_Homo sapiens_hsa049151.17755253
39Glioma_Homo sapiens_hsa052141.17132571
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16103879
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04071339
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02741128
43ErbB signaling pathway_Homo sapiens_hsa040120.99653800
44Melanogenesis_Homo sapiens_hsa049160.99315444
45Vibrio cholerae infection_Homo sapiens_hsa051100.96053248
46Axon guidance_Homo sapiens_hsa043600.91960657
47Pancreatic secretion_Homo sapiens_hsa049720.91758133
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90252327
49Thyroid hormone synthesis_Homo sapiens_hsa049180.87914834
50Carbohydrate digestion and absorption_Homo sapiens_hsa049730.87276747
51Oocyte meiosis_Homo sapiens_hsa041140.86997186
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.86580329
53Dorso-ventral axis formation_Homo sapiens_hsa043200.84321590
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.83596149
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82027349
56Cardiac muscle contraction_Homo sapiens_hsa042600.79022615
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74424023
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.69833018
59Dilated cardiomyopathy_Homo sapiens_hsa054140.68598220
60Choline metabolism in cancer_Homo sapiens_hsa052310.67475550
61MAPK signaling pathway_Homo sapiens_hsa040100.66767456
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66082048
63Type I diabetes mellitus_Homo sapiens_hsa049400.66032101
64Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.63269700
65mTOR signaling pathway_Homo sapiens_hsa041500.62708231
66Bile secretion_Homo sapiens_hsa049760.62220928
67Glucagon signaling pathway_Homo sapiens_hsa049220.62073087
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61509457
69VEGF signaling pathway_Homo sapiens_hsa043700.60835666
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58565909
71Endocytosis_Homo sapiens_hsa041440.55701193
72Ras signaling pathway_Homo sapiens_hsa040140.52956050
73Inositol phosphate metabolism_Homo sapiens_hsa005620.51048016
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.50300508
75Rap1 signaling pathway_Homo sapiens_hsa040150.49110899
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49050819
77Alcoholism_Homo sapiens_hsa050340.48493159
78Circadian rhythm_Homo sapiens_hsa047100.48332600
79Prion diseases_Homo sapiens_hsa050200.47205919
80Endometrial cancer_Homo sapiens_hsa052130.46551008
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46307431
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46242489
83Insulin signaling pathway_Homo sapiens_hsa049100.45009704
84Non-small cell lung cancer_Homo sapiens_hsa052230.44464475
85Alzheimers disease_Homo sapiens_hsa050100.43998092
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43991276
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.42109069
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42004332
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41089427
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38852566
91Renal cell carcinoma_Homo sapiens_hsa052110.38331116
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37024322
93Arginine and proline metabolism_Homo sapiens_hsa003300.36671141
94Chemokine signaling pathway_Homo sapiens_hsa040620.35482154
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34297911
96Fatty acid biosynthesis_Homo sapiens_hsa000610.34171119
97Wnt signaling pathway_Homo sapiens_hsa043100.33953178
98Ovarian steroidogenesis_Homo sapiens_hsa049130.33424331
99Arginine biosynthesis_Homo sapiens_hsa002200.32357804
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32120202
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27831488
102Mineral absorption_Homo sapiens_hsa049780.27555494
103Prolactin signaling pathway_Homo sapiens_hsa049170.26436497
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26192217
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.26144369
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25867357
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.24760185
108Histidine metabolism_Homo sapiens_hsa003400.24347957
109beta-Alanine metabolism_Homo sapiens_hsa004100.19176022
110AMPK signaling pathway_Homo sapiens_hsa041520.18892651
111Tight junction_Homo sapiens_hsa045300.18086978
112Regulation of autophagy_Homo sapiens_hsa041400.17677255
113Hippo signaling pathway_Homo sapiens_hsa043900.12531935

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