SYT5

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: Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.18054165
2synaptic vesicle maturation (GO:0016188)5.58217736
3synaptic vesicle exocytosis (GO:0016079)5.52604771
4vocalization behavior (GO:0071625)5.34764669
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.30513442
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.29377943
7glutamate secretion (GO:0014047)5.28380279
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.24043376
9regulation of synaptic vesicle exocytosis (GO:2000300)5.08697448
10locomotory exploration behavior (GO:0035641)5.04271369
11protein localization to synapse (GO:0035418)4.97397810
12regulation of glutamate receptor signaling pathway (GO:1900449)4.96726875
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.95162562
14neuron cell-cell adhesion (GO:0007158)4.77682384
15behavioral response to nicotine (GO:0035095)4.75814131
16pyrimidine nucleobase catabolic process (GO:0006208)4.57861736
17regulation of synaptic vesicle transport (GO:1902803)4.56719945
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.54708793
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.44360715
20neurotransmitter-gated ion channel clustering (GO:0072578)4.34638828
21regulation of neuronal synaptic plasticity (GO:0048168)4.30783895
22neurotransmitter secretion (GO:0007269)4.30603160
23regulation of long-term neuronal synaptic plasticity (GO:0048169)4.25345440
24exploration behavior (GO:0035640)4.23810660
25synaptic transmission, glutamatergic (GO:0035249)4.11045252
26neuronal action potential propagation (GO:0019227)4.05884323
27establishment of mitochondrion localization (GO:0051654)4.03976688
28regulation of synapse structural plasticity (GO:0051823)4.03693741
29nucleobase catabolic process (GO:0046113)3.99537331
30neuron-neuron synaptic transmission (GO:0007270)3.99419643
31glutamate receptor signaling pathway (GO:0007215)3.97639200
32proline transport (GO:0015824)3.84430078
33positive regulation of synaptic transmission, GABAergic (GO:0032230)3.81690225
34regulation of excitatory postsynaptic membrane potential (GO:0060079)3.79530642
35layer formation in cerebral cortex (GO:0021819)3.77342889
36positive regulation of membrane potential (GO:0045838)3.70975388
37neuron recognition (GO:0008038)3.65199824
38dendritic spine morphogenesis (GO:0060997)3.64743999
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.64184578
40postsynaptic membrane organization (GO:0001941)3.64099685
41regulation of postsynaptic membrane potential (GO:0060078)3.61472135
42establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.61321657
43mitochondrion transport along microtubule (GO:0047497)3.61321657
44negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.61148889
45positive regulation of synapse maturation (GO:0090129)3.60859404
46activation of protein kinase A activity (GO:0034199)3.59035409
47long-term memory (GO:0007616)3.56660453
48regulation of synaptic plasticity (GO:0048167)3.55626773
49regulation of glutamate secretion (GO:0014048)3.52400878
50long-term synaptic potentiation (GO:0060291)3.50483534
51presynaptic membrane assembly (GO:0097105)3.49517294
52regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.48232435
53neuromuscular synaptic transmission (GO:0007274)3.47894877
54regulation of synaptic transmission, glutamatergic (GO:0051966)3.47589379
55neurotransmitter transport (GO:0006836)3.45550642
56regulation of neurotransmitter secretion (GO:0046928)3.43838557
57neuronal ion channel clustering (GO:0045161)3.43819475
58positive regulation of neurotransmitter secretion (GO:0001956)3.43710101
59regulation of synapse maturation (GO:0090128)3.43417085
60positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.42499503
61cerebellar granule cell differentiation (GO:0021707)3.39818078
62phosphorelay signal transduction system (GO:0000160)3.39401552
63synaptic vesicle endocytosis (GO:0048488)3.38102486
64positive regulation of neurotransmitter transport (GO:0051590)3.37513623
65regulation of vesicle fusion (GO:0031338)3.35878068
66axonal fasciculation (GO:0007413)3.32164474
67regulation of dendritic spine morphogenesis (GO:0061001)3.31806790
68adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.30760164
69positive regulation of dendritic spine development (GO:0060999)3.30615947
70behavioral defense response (GO:0002209)3.29986566
71behavioral fear response (GO:0001662)3.29986566
72G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.29315517
73cell differentiation in hindbrain (GO:0021533)3.26168651
74auditory behavior (GO:0031223)3.26089738
75response to histamine (GO:0034776)3.26055687
76negative regulation of synaptic transmission, GABAergic (GO:0032229)3.25371137
77central nervous system myelination (GO:0022010)3.24679792
78axon ensheathment in central nervous system (GO:0032291)3.24679792
79gamma-aminobutyric acid transport (GO:0015812)3.24578055
80gamma-aminobutyric acid signaling pathway (GO:0007214)3.22758502
81cell migration in hindbrain (GO:0021535)3.21608251
82adult walking behavior (GO:0007628)3.21089305
83regulation of neurotransmitter levels (GO:0001505)3.20811063
84dopamine receptor signaling pathway (GO:0007212)3.19744084
85regulation of neurotransmitter transport (GO:0051588)3.19154931
86presynaptic membrane organization (GO:0097090)3.18974610
87transmission of nerve impulse (GO:0019226)3.18721492
88mechanosensory behavior (GO:0007638)3.17336835
89positive regulation of dendritic spine morphogenesis (GO:0061003)3.16373146
90fear response (GO:0042596)3.15406400
91negative regulation of dendrite morphogenesis (GO:0050774)3.15222290
92regulation of female receptivity (GO:0045924)3.13792825
93detection of calcium ion (GO:0005513)3.12904983
94membrane depolarization (GO:0051899)3.11562448
95serotonin metabolic process (GO:0042428)3.11529359
96neuronal action potential (GO:0019228)3.10689154
97regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.10477558
98positive regulation of synaptic transmission (GO:0050806)3.08700560
99negative regulation of dendrite development (GO:2000171)3.06388925
100membrane depolarization during action potential (GO:0086010)3.05946730
101response to auditory stimulus (GO:0010996)3.05944634
102neurofilament cytoskeleton organization (GO:0060052)3.04664956
103learning (GO:0007612)3.04590243
104prepulse inhibition (GO:0060134)3.04033223
105neuromuscular process controlling posture (GO:0050884)3.02946934
106negative regulation of amino acid transport (GO:0051956)3.02366681
107vesicle transport along microtubule (GO:0047496)3.02304802
108female mating behavior (GO:0060180)3.01922438
109regulation of synaptic transmission (GO:0050804)3.01455170
110regulation of calcium ion-dependent exocytosis (GO:0017158)3.01209634
111neuromuscular process controlling balance (GO:0050885)3.00804799
112cerebellar Purkinje cell differentiation (GO:0021702)3.00694328
113positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00490008
114primary amino compound metabolic process (GO:1901160)2.99789347
115innervation (GO:0060384)2.99247974
116regulation of voltage-gated calcium channel activity (GO:1901385)2.99244346
117behavioral response to cocaine (GO:0048148)2.97771384
118* synaptic transmission (GO:0007268)2.97199352
119multicellular organismal signaling (GO:0035637)2.96913226
120regulation of microtubule-based movement (GO:0060632)2.96627872
121synapse assembly (GO:0007416)2.96615327
122regulation of synaptic transmission, GABAergic (GO:0032228)2.95894464
123cellular potassium ion homeostasis (GO:0030007)2.94731451
124membrane hyperpolarization (GO:0060081)2.94223352
125mating behavior (GO:0007617)2.93974800
126positive regulation of synapse assembly (GO:0051965)2.93204448
127regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91485724
128intraspecies interaction between organisms (GO:0051703)2.89236462
129startle response (GO:0001964)2.88068347
130G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.85154318
131positive regulation of meiosis (GO:0045836)2.80570253
132negative regulation of cytosolic calcium ion concentration (GO:0051481)2.79417478
133regulation of dendritic spine development (GO:0060998)2.76193503
134synapse organization (GO:0050808)2.73681310

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.36774755
2GBX2_23144817_ChIP-Seq_PC3_Human3.72598174
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.21337393
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02630216
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99133135
6REST_21632747_ChIP-Seq_MESCs_Mouse2.93583176
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.75239892
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66686059
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65665463
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61015409
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61015409
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.57719348
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57059360
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53977774
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53665923
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.48607629
17CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.46165910
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.45850165
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.39001218
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.27046294
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.25609975
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.24949825
23DROSHA_22980978_ChIP-Seq_HELA_Human2.24470747
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.19860159
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.10298921
26TAF15_26573619_Chip-Seq_HEK293_Human1.99811385
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.98633376
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98121969
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.92472003
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.86132291
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78168256
32SMAD4_21799915_ChIP-Seq_A2780_Human1.67265120
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.62530182
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.61854696
35AR_21572438_ChIP-Seq_LNCaP_Human1.58891575
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56381869
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.51478422
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51026459
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.49920796
40ZNF274_21170338_ChIP-Seq_K562_Hela1.48465240
41P300_19829295_ChIP-Seq_ESCs_Human1.45277023
42TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.44238343
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39412884
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39224421
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.33977518
46IGF1R_20145208_ChIP-Seq_DFB_Human1.32694036
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.32494691
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32450087
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29257740
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28840180
51AR_25329375_ChIP-Seq_VCAP_Human1.28676225
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28349171
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.28158382
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.28039109
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.24532886
56RNF2_27304074_Chip-Seq_NSC_Mouse1.22422592
57DNAJC2_21179169_ChIP-ChIP_NT2_Human1.22265510
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18973013
59HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.18356741
60STAT3_23295773_ChIP-Seq_U87_Human1.18234837
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17668340
62ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.17214658
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16151012
64VDR_22108803_ChIP-Seq_LS180_Human1.15163712
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.12038398
66AR_19668381_ChIP-Seq_PC3_Human1.11886764
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11368749
68SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09329352
69POU3F2_20337985_ChIP-ChIP_501MEL_Human1.08414309
70TCF4_23295773_ChIP-Seq_U87_Human1.05885298
71* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.03627045
72SMAD_19615063_ChIP-ChIP_OVARY_Human1.03058548
73FUS_26573619_Chip-Seq_HEK293_Human1.02360655
74JUN_21703547_ChIP-Seq_K562_Human1.01572937
75RUNX2_22187159_ChIP-Seq_PCA_Human1.01232154
76MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00954513
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.00822653
78RING1B_27294783_Chip-Seq_NPCs_Mouse1.00737766
79WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00372704
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00214491
81RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99094763
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97264366
83ARNT_22903824_ChIP-Seq_MCF-7_Human0.97143395
84PRDM14_20953172_ChIP-Seq_ESCs_Human0.96579479
85RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96497854
86MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.96033135
87* SMAD3_21741376_ChIP-Seq_ESCs_Human0.95277655
88AHR_22903824_ChIP-Seq_MCF-7_Human0.95220287
89ZFP281_18757296_ChIP-ChIP_E14_Mouse0.94943504
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94913437
91CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94846823
92* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.94630730
93* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93487348
94UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92860991
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.92429243
96BCAT_22108803_ChIP-Seq_LS180_Human0.91576718
97MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91410088
98* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.90923763
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90564637
100FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90524672
101CBP_20019798_ChIP-Seq_JUKART_Human0.88926432
102IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88926432
103TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.88666707
104KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88140511
105CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.87910049
106TP53_20018659_ChIP-ChIP_R1E_Mouse0.87493556
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.87341044
108TP53_22573176_ChIP-Seq_HFKS_Human0.85123564
109WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.84885548
110TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84177800
111POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.84177800
112VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83920711
113CTCF_27219007_Chip-Seq_Bcells_Human0.83824964
114ER_23166858_ChIP-Seq_MCF-7_Human0.83122070
115* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82376443
116TET1_21490601_ChIP-Seq_MESCs_Mouse0.81353928

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.13185904
2MP0003880_abnormal_central_pattern4.75002565
3* MP0003635_abnormal_synaptic_transmissio4.02964530
4MP0004270_analgesia3.71634176
5MP0002822_catalepsy3.47216918
6MP0009745_abnormal_behavioral_response3.42983192
7MP0001968_abnormal_touch/_nociception3.38903322
8MP0002063_abnormal_learning/memory/cond3.36172955
9MP0002064_seizures3.04525346
10MP0002572_abnormal_emotion/affect_behav2.88862257
11MP0002734_abnormal_mechanical_nocicepti2.72067837
12MP0002735_abnormal_chemical_nociception2.69082715
13MP0002736_abnormal_nociception_after2.68663498
14MP0009046_muscle_twitch2.68440416
15MP0005423_abnormal_somatic_nervous2.59013926
16MP0002272_abnormal_nervous_system2.51377460
17MP0002733_abnormal_thermal_nociception2.27817573
18MP0001486_abnormal_startle_reflex2.27788052
19MP0001501_abnormal_sleep_pattern2.20514618
20MP0006276_abnormal_autonomic_nervous2.18168663
21MP0001970_abnormal_pain_threshold2.13577980
22MP0001440_abnormal_grooming_behavior2.12032882
23MP0002909_abnormal_adrenal_gland1.99960640
24MP0009780_abnormal_chondrocyte_physiolo1.96033003
25MP0002067_abnormal_sensory_capabilities1.91664298
26MP0003122_maternal_imprinting1.90447913
27MP0001984_abnormal_olfaction1.89523282
28MP0005645_abnormal_hypothalamus_physiol1.87478461
29MP0002184_abnormal_innervation1.87408844
30MP0005646_abnormal_pituitary_gland1.85005988
31MP0002557_abnormal_social/conspecific_i1.83434034
32MP0001529_abnormal_vocalization1.79384862
33MP0004811_abnormal_neuron_physiology1.77146314
34MP0005386_behavior/neurological_phenoty1.76224574
35MP0004924_abnormal_behavior1.76224574
36MP0003787_abnormal_imprinting1.71775567
37MP0004858_abnormal_nervous_system1.70004451
38MP0000778_abnormal_nervous_system1.68291285
39MP0003329_amyloid_beta_deposits1.62577989
40MP0003879_abnormal_hair_cell1.61027950
41MP0001905_abnormal_dopamine_level1.57009604
42MP0008569_lethality_at_weaning1.53980771
43MP0000955_abnormal_spinal_cord1.48195874
44MP0002882_abnormal_neuron_morphology1.37507824
45MP0002066_abnormal_motor_capabilities/c1.35395218
46MP0001188_hyperpigmentation1.34398896
47MP0001502_abnormal_circadian_rhythm1.32645253
48MP0004133_heterotaxia1.25951023
49MP0010386_abnormal_urinary_bladder1.25895437
50MP0000013_abnormal_adipose_tissue1.25355208
51MP0003633_abnormal_nervous_system1.16281869
52MP0004885_abnormal_endolymph1.15352477
53MP0004142_abnormal_muscle_tone1.14864706
54MP0002837_dystrophic_cardiac_calcinosis1.11762145
55MP0006292_abnormal_olfactory_placode1.11582634
56MP0004147_increased_porphyrin_level1.03502956
57MP0002152_abnormal_brain_morphology1.03042921
58MP0002069_abnormal_eating/drinking_beha1.02786627
59MP0000751_myopathy1.02250089
60MP0002653_abnormal_ependyma_morphology0.97687763
61MP0003631_nervous_system_phenotype0.97313849
62MP0008872_abnormal_physiological_respon0.94775554
63MP0002876_abnormal_thyroid_physiology0.92607349
64MP0008961_abnormal_basal_metabolism0.89380225
65MP0004130_abnormal_muscle_cell0.88759232
66MP0000026_abnormal_inner_ear0.88316069
67MP0005535_abnormal_body_temperature0.88294339
68MP0002229_neurodegeneration0.88262658
69MP0000631_abnormal_neuroendocrine_gland0.88192853
70MP0004085_abnormal_heartbeat0.87480652
71MP0006072_abnormal_retinal_apoptosis0.85533418
72MP0008874_decreased_physiological_sensi0.84702243
73MP0003283_abnormal_digestive_organ0.83883306
74MP0005394_taste/olfaction_phenotype0.83502758
75MP0005499_abnormal_olfactory_system0.83502758
76MP0003890_abnormal_embryonic-extraembry0.80414232
77MP0001664_abnormal_digestion0.79994827
78MP0003183_abnormal_peptide_metabolism0.79225996
79MP0002638_abnormal_pupillary_reflex0.78624013
80MP0002160_abnormal_reproductive_system0.76966960
81MP0005253_abnormal_eye_physiology0.75513463
82MP0001963_abnormal_hearing_physiology0.74485183
83MP0003123_paternal_imprinting0.74330101
84MP0002102_abnormal_ear_morphology0.73501142
85MP0002752_abnormal_somatic_nervous0.72025861
86MP0004742_abnormal_vestibular_system0.71588916
87MP0003011_delayed_dark_adaptation0.71174827
88MP0003634_abnormal_glial_cell0.70433092
89MP0005551_abnormal_eye_electrophysiolog0.69203898
90MP0002163_abnormal_gland_morphology0.68660098
91MP0005195_abnormal_posterior_eye0.68166566
92MP0002751_abnormal_autonomic_nervous0.68063370
93MP0003195_calcinosis0.67118952
94MP0001177_atelectasis0.67111561
95MP0004145_abnormal_muscle_electrophysio0.66144117
96MP0003121_genomic_imprinting0.65466556
97MP0008877_abnormal_DNA_methylation0.64937524
98MP0008875_abnormal_xenobiotic_pharmacok0.64836034
99MP0000604_amyloidosis0.64349976
100MP0003075_altered_response_to0.64013731
101MP0001986_abnormal_taste_sensitivity0.63692595
102MP0004043_abnormal_pH_regulation0.61725618
103MP0000427_abnormal_hair_cycle0.59284188
104MP0000920_abnormal_myelination0.58972373
105MP0003632_abnormal_nervous_system0.58924835
106MP0005448_abnormal_energy_balance0.57356622
107MP0003938_abnormal_ear_development0.56348297
108MP0005389_reproductive_system_phenotype0.55327014
109MP0002928_abnormal_bile_duct0.54857810
110MP0000569_abnormal_digit_pigmentation0.54174574
111MP0001485_abnormal_pinna_reflex0.53317893
112MP0001943_abnormal_respiration0.51430508
113MP0003137_abnormal_impulse_conducting0.51401268
114MP0003956_abnormal_body_size0.50725457
115MP0003861_abnormal_nervous_system0.50145564
116MP0005379_endocrine/exocrine_gland_phen0.49452964
117MP0004215_abnormal_myocardial_fiber0.48966047
118MP0005187_abnormal_penis_morphology0.48678264
119MP0002082_postnatal_lethality0.47042504
120MP0010770_preweaning_lethality0.47042504
121MP0004484_altered_response_of0.47000871

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.45673411
2Myokymia (HP:0002411)6.86798767
3Focal seizures (HP:0007359)5.58363510
4Visual hallucinations (HP:0002367)5.37429663
5Epileptic encephalopathy (HP:0200134)4.91307474
6Atonic seizures (HP:0010819)4.70863618
7Febrile seizures (HP:0002373)4.24920670
8Absence seizures (HP:0002121)4.22376456
9Dialeptic seizures (HP:0011146)3.89530115
10Generalized tonic-clonic seizures (HP:0002069)3.84547893
11Progressive cerebellar ataxia (HP:0002073)3.70642578
12Hyperventilation (HP:0002883)3.56435380
13Broad-based gait (HP:0002136)3.27719531
14Depression (HP:0000716)3.23996619
15Impaired vibration sensation in the lower limbs (HP:0002166)3.22716846
16Ankle clonus (HP:0011448)3.19979323
17Amblyopia (HP:0000646)3.18840926
18Supranuclear gaze palsy (HP:0000605)3.17330500
19Poor eye contact (HP:0000817)3.16198268
20Anxiety (HP:0000739)3.15023171
21Action tremor (HP:0002345)3.13023219
22Abnormal eating behavior (HP:0100738)3.12282379
23Type II lissencephaly (HP:0007260)3.00854240
24Limb dystonia (HP:0002451)3.00206909
25Molar tooth sign on MRI (HP:0002419)2.92932925
26Abnormality of midbrain morphology (HP:0002418)2.92932925
27Mutism (HP:0002300)2.83386147
28Gaze-evoked nystagmus (HP:0000640)2.79935053
29Polyphagia (HP:0002591)2.79330200
30Abnormal social behavior (HP:0012433)2.78831259
31Impaired social interactions (HP:0000735)2.78831259
32Epileptiform EEG discharges (HP:0011182)2.78564066
33Urinary bladder sphincter dysfunction (HP:0002839)2.77231701
34Truncal ataxia (HP:0002078)2.75577185
35Torticollis (HP:0000473)2.73103989
36Pheochromocytoma (HP:0002666)2.71615821
37Pancreatic fibrosis (HP:0100732)2.71038908
38Dysdiadochokinesis (HP:0002075)2.67303886
39EEG with generalized epileptiform discharges (HP:0011198)2.63708148
40Drooling (HP:0002307)2.63565876
41Excessive salivation (HP:0003781)2.63565876
42Dysmetria (HP:0001310)2.63201273
43Papilledema (HP:0001085)2.62942190
44Postural instability (HP:0002172)2.61028697
45Pancreatic cysts (HP:0001737)2.58387422
46Failure to thrive in infancy (HP:0001531)2.58234282
47Focal dystonia (HP:0004373)2.57931477
48Agitation (HP:0000713)2.56156088
49Congenital stationary night blindness (HP:0007642)2.55026375
50True hermaphroditism (HP:0010459)2.52967480
51Hypsarrhythmia (HP:0002521)2.52743698
52Gait imbalance (HP:0002141)2.52029085
53Progressive inability to walk (HP:0002505)2.51963571
54Urinary urgency (HP:0000012)2.49033747
55Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.47780586
56Nephronophthisis (HP:0000090)2.46917847
57Bradykinesia (HP:0002067)2.44118319
58Abnormality of the lower motor neuron (HP:0002366)2.40615791
59Neuroendocrine neoplasm (HP:0100634)2.40281158
60Lissencephaly (HP:0001339)2.37636459
61Cerebral inclusion bodies (HP:0100314)2.36797441
62Craniofacial dystonia (HP:0012179)2.34088885
63Termporal pattern (HP:0011008)2.33528191
64Insidious onset (HP:0003587)2.33528191
65Chronic hepatic failure (HP:0100626)2.33178327
66Hypoventilation (HP:0002791)2.31501877
67Impaired smooth pursuit (HP:0007772)2.30977725
68Spastic gait (HP:0002064)2.30805672
69Retinal dysplasia (HP:0007973)2.29788590
70Spastic tetraplegia (HP:0002510)2.23300716
71Menstrual irregularities (HP:0000858)2.22355876
72Abnormality of the corticospinal tract (HP:0002492)2.21676270
73Delusions (HP:0000746)2.21317495
74Genetic anticipation (HP:0003743)2.20656030
75Abnormal hair whorl (HP:0010721)2.19258010
76Stereotypic behavior (HP:0000733)2.18613547
77Poor suck (HP:0002033)2.18055226
78Abnormality of the labia minora (HP:0012880)2.15894819
79Pachygyria (HP:0001302)2.14548822
80Vaginal atresia (HP:0000148)2.14459055
81Inability to walk (HP:0002540)2.14439899
82Hemiparesis (HP:0001269)2.14256336
83Fetal akinesia sequence (HP:0001989)2.14234455
84Neurofibrillary tangles (HP:0002185)2.13928504
85Genital tract atresia (HP:0001827)2.13678185
86Diplopia (HP:0000651)2.11717289
87Abnormality of binocular vision (HP:0011514)2.11717289
88Resting tremor (HP:0002322)2.11449534
89Congenital primary aphakia (HP:0007707)2.08657438
90Abnormality of the renal medulla (HP:0100957)2.08594785
91Specific learning disability (HP:0001328)2.07892652
92Impaired vibratory sensation (HP:0002495)2.06551407
93Morphological abnormality of the pyramidal tract (HP:0002062)2.05649253
94Oligodactyly (hands) (HP:0001180)2.05008285
95Absent speech (HP:0001344)2.02922272
96Cerebellar dysplasia (HP:0007033)2.02841288
97Hyperthyroidism (HP:0000836)2.01327241
98Lower limb muscle weakness (HP:0007340)2.00811489
99Abnormal respiratory motile cilium morphology (HP:0005938)2.00285712
100Abnormal respiratory epithelium morphology (HP:0012253)2.00285712
101Sleep apnea (HP:0010535)2.00266295
102Cerebral hypomyelination (HP:0006808)1.99043782
103Psychosis (HP:0000709)1.98807586
104Medial flaring of the eyebrow (HP:0010747)1.98485512
105Decreased central vision (HP:0007663)1.95519261
106Prolonged QT interval (HP:0001657)1.95270683
107Abnormality of ocular smooth pursuit (HP:0000617)1.94599157
108Scanning speech (HP:0002168)1.94556694
109Blue irides (HP:0000635)1.93392838
110Generalized myoclonic seizures (HP:0002123)1.93372439
111Nephrogenic diabetes insipidus (HP:0009806)1.92131104
112Abnormality of pain sensation (HP:0010832)1.91813303
113Impaired pain sensation (HP:0007328)1.91813303
114Oligomenorrhea (HP:0000876)1.90138022
115Ventricular fibrillation (HP:0001663)1.88595924
116Cystic liver disease (HP:0006706)1.87320966
117Gait ataxia (HP:0002066)1.87288667
118Amyotrophic lateral sclerosis (HP:0007354)1.86951291
119Incomplete penetrance (HP:0003829)1.86905863
120Protruding tongue (HP:0010808)1.86667791
121Status epilepticus (HP:0002133)1.83892614
122Hemiplegia (HP:0002301)1.83891638
123Pendular nystagmus (HP:0012043)1.83825930
124Dysmetric saccades (HP:0000641)1.83179023
125Akinesia (HP:0002304)1.82868318
126Annular pancreas (HP:0001734)1.82690433
127Hypoplasia of the brainstem (HP:0002365)1.82359456
128Aplasia/Hypoplasia of the brainstem (HP:0007362)1.82359456
129Optic nerve hypoplasia (HP:0000609)1.81303740
130Abnormal EKG (HP:0003115)1.79233241
131Hypercortisolism (HP:0001578)1.78517067
132Intellectual disability, severe (HP:0010864)1.71589255
133Acute necrotizing encephalopathy (HP:0006965)1.71307641
134Polydipsia (HP:0001959)1.68598364
135Abnormal drinking behavior (HP:0030082)1.68598364

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.49292199
2EPHA44.38308426
3MAP3K93.85408976
4MARK13.09543416
5CASK2.94891130
6MAP3K42.81549855
7DAPK22.70930808
8MAP3K122.63469664
9MINK12.61177041
10FRK2.59274026
11MAP2K72.58536600
12KSR22.24725771
13ARAF2.11389711
14NTRK21.96373071
15PAK61.89467069
16DAPK11.87975250
17KSR11.87480511
18PRKD31.80890516
19PLK21.80592940
20MAP2K41.77465411
21DYRK21.71933663
22GRK51.68574642
23RIPK41.62618978
24NTRK11.61544170
25PRPF4B1.56470946
26CDK51.51000959
27CDK191.49541197
28MAPK131.47251312
29CAMKK11.43296175
30SIK31.35450586
31WNK41.33709906
32MAP3K21.33490049
33TNIK1.32088703
34UHMK11.27650540
35PRKCG1.24254026
36MAP4K21.15884039
37SIK21.12330883
38PNCK1.12264384
39MAP3K131.10900104
40CAMKK21.07371231
41CAMK2A1.03392713
42INSRR1.02934265
43TLK10.99253814
44GRK10.99192454
45CDK180.96768723
46FES0.95187808
47CDK140.93067065
48SGK2230.92308018
49SGK4940.92308018
50PKN10.89195049
51BMPR1B0.89066507
52CDK150.89058268
53RAF10.87564223
54CAMK2B0.85321221
55PHKG10.84340928
56PHKG20.84340928
57BRAF0.83737898
58PTK2B0.83202314
59TAOK10.82768196
60PAK30.78268849
61STK380.78224221
62BMPR20.77485301
63SGK20.77153438
64CCNB10.76959642
65AKT30.76893951
66CDK11A0.76835125
67PRKCH0.75525439
68MAP2K60.75252013
69CAMK10.74544426
70MAP3K10.74098796
71BCR0.73641725
72TYRO30.72736080
73OXSR10.72357423
74LIMK10.72133261
75CSNK1G20.71432868
76LATS20.69046842
77RET0.68814121
78TAOK30.68706501
79NEK20.65776401
80DYRK1A0.64132050
81STK110.63564440
82WNK30.62436436
83SGK10.61981045
84PRKCE0.61528187
85MARK20.60552311
86NME10.59709159
87CAMK1G0.59451409
88MAP2K10.57817996
89FER0.55212302
90MAPK120.55065917
91MAP3K110.54747164
92PINK10.52575773
93RPS6KA20.51133506
94SGK30.50768667
95MAPK150.49925736
96DAPK30.49430153
97CSNK1G30.48892213
98ALK0.47758041
99CAMK2G0.47358066
100PRKCZ0.47202737
101PDK10.46600146
102PDPK10.46337895
103CAMK2D0.45700365
104ADRBK20.45342422
105CSNK1A10.44661690
106GRK70.41964991
107ADRBK10.41940943
108LMTK20.41051698
109RPS6KA30.40502668
110CSNK1D0.39775622
111ERBB20.39265151
112ERBB30.38463413
113CSNK1A1L0.37124781
114CAMK1D0.37033934
115PRKG10.36745532
116TNK20.36230653
117NUAK10.33606033
118STK390.33381727
119PRKCI0.33235330
120FGR0.32937790
121CSNK1G10.32830376
122CSNK1E0.32395233
123FYN0.32346127
124MAPK100.30973411
125CAMK40.30700701
126ZAK0.30159059
127PRKCB0.30062475
128CDC42BPA0.28892529
129TIE10.27928940
130PRKCA0.27643507
131PRKAA10.27361509
132PRKACA0.27287625
133PRKCQ0.26225480
134MAPK80.25156452

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.76057816
2Nicotine addiction_Homo sapiens_hsa050333.64749500
3Olfactory transduction_Homo sapiens_hsa047403.04981958
4Circadian entrainment_Homo sapiens_hsa047132.72945609
5GABAergic synapse_Homo sapiens_hsa047272.70339901
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.66603257
7Amphetamine addiction_Homo sapiens_hsa050312.64745987
8Long-term potentiation_Homo sapiens_hsa047202.63664386
9Morphine addiction_Homo sapiens_hsa050322.58107103
10Glutamatergic synapse_Homo sapiens_hsa047242.46906186
11Dopaminergic synapse_Homo sapiens_hsa047282.35096472
12Collecting duct acid secretion_Homo sapiens_hsa049662.28300248
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.22925154
14Insulin secretion_Homo sapiens_hsa049112.22714960
15Salivary secretion_Homo sapiens_hsa049701.99354510
16Cocaine addiction_Homo sapiens_hsa050301.97068013
17Cholinergic synapse_Homo sapiens_hsa047251.92531263
18Taste transduction_Homo sapiens_hsa047421.89705813
19Serotonergic synapse_Homo sapiens_hsa047261.80781900
20Gastric acid secretion_Homo sapiens_hsa049711.75274144
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.75143892
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74234316
23Vibrio cholerae infection_Homo sapiens_hsa051101.68300337
24Renin secretion_Homo sapiens_hsa049241.68227664
25Long-term depression_Homo sapiens_hsa047301.65208785
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.54968825
27Calcium signaling pathway_Homo sapiens_hsa040201.53649558
28Oxytocin signaling pathway_Homo sapiens_hsa049211.52933320
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39306519
30GnRH signaling pathway_Homo sapiens_hsa049121.38728878
31Gap junction_Homo sapiens_hsa045401.32353530
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31084320
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27993595
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.21231851
35cAMP signaling pathway_Homo sapiens_hsa040241.19890038
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18786075
37Butanoate metabolism_Homo sapiens_hsa006501.17964644
38Estrogen signaling pathway_Homo sapiens_hsa049151.11856129
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11784633
40alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.11292058
41Type II diabetes mellitus_Homo sapiens_hsa049301.10891145
42Axon guidance_Homo sapiens_hsa043601.04290758
43Cardiac muscle contraction_Homo sapiens_hsa042601.03770151
44Melanogenesis_Homo sapiens_hsa049161.02260321
45Glioma_Homo sapiens_hsa052141.01259065
46Phosphatidylinositol signaling system_Homo sapiens_hsa040701.00789003
47Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99968692
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93203891
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91739897
50ErbB signaling pathway_Homo sapiens_hsa040120.91390241
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.89307405
52Oocyte meiosis_Homo sapiens_hsa041140.89110262
53Linoleic acid metabolism_Homo sapiens_hsa005910.88777322
54Phototransduction_Homo sapiens_hsa047440.88086716
55Oxidative phosphorylation_Homo sapiens_hsa001900.85479838
56Vitamin B6 metabolism_Homo sapiens_hsa007500.76937499
57Type I diabetes mellitus_Homo sapiens_hsa049400.76576616
58Thyroid hormone synthesis_Homo sapiens_hsa049180.74742467
59Alzheimers disease_Homo sapiens_hsa050100.74553868
60Nitrogen metabolism_Homo sapiens_hsa009100.74479646
61Pancreatic secretion_Homo sapiens_hsa049720.74216894
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.72783294
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71541280
64Ether lipid metabolism_Homo sapiens_hsa005650.71537306
65Dorso-ventral axis formation_Homo sapiens_hsa043200.69287059
66Alcoholism_Homo sapiens_hsa050340.68750856
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.67237170
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65696634
69Parkinsons disease_Homo sapiens_hsa050120.65659053
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.65567783
71Glucagon signaling pathway_Homo sapiens_hsa049220.65064369
72Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64118758
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63356223
74MAPK signaling pathway_Homo sapiens_hsa040100.61667284
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61208239
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.60634859
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57869279
78Tryptophan metabolism_Homo sapiens_hsa003800.57115938
79Choline metabolism in cancer_Homo sapiens_hsa052310.56078823
80Dilated cardiomyopathy_Homo sapiens_hsa054140.56059101
81Prion diseases_Homo sapiens_hsa050200.54678307
82Ras signaling pathway_Homo sapiens_hsa040140.53774722
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52670262
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51988744
85Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48534266
86beta-Alanine metabolism_Homo sapiens_hsa004100.48108656
87VEGF signaling pathway_Homo sapiens_hsa043700.48067097
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46498708
89Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45108091
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44672320
91Rheumatoid arthritis_Homo sapiens_hsa053230.44547744
92Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.43778029
93ABC transporters_Homo sapiens_hsa020100.43472340
94Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43160937
95Rap1 signaling pathway_Homo sapiens_hsa040150.43152022
96Insulin signaling pathway_Homo sapiens_hsa049100.42509937
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42371610
98Histidine metabolism_Homo sapiens_hsa003400.41932908
99Circadian rhythm_Homo sapiens_hsa047100.41069478
100Endometrial cancer_Homo sapiens_hsa052130.40888065
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40649193
102Huntingtons disease_Homo sapiens_hsa050160.39141656
103Sphingolipid signaling pathway_Homo sapiens_hsa040710.38955471
104Arginine and proline metabolism_Homo sapiens_hsa003300.37881688
105Endocytosis_Homo sapiens_hsa041440.37601623
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37359528
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36315569
108Inositol phosphate metabolism_Homo sapiens_hsa005620.34428906
109Phagosome_Homo sapiens_hsa041450.33696703
110Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33196864
111mTOR signaling pathway_Homo sapiens_hsa041500.33081977
112Ovarian steroidogenesis_Homo sapiens_hsa049130.32624753
113Wnt signaling pathway_Homo sapiens_hsa043100.32615820
114Non-small cell lung cancer_Homo sapiens_hsa052230.32274476
115Bile secretion_Homo sapiens_hsa049760.30804188
116Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30401569
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28942791
118Renal cell carcinoma_Homo sapiens_hsa052110.28587630
119Regulation of autophagy_Homo sapiens_hsa041400.27268538
120Glycerolipid metabolism_Homo sapiens_hsa005610.25599314
121Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.24991480
122Peroxisome_Homo sapiens_hsa041460.24653205
123Fatty acid biosynthesis_Homo sapiens_hsa000610.24405734
124Selenocompound metabolism_Homo sapiens_hsa004500.24208871
125Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.23166171
126Mineral absorption_Homo sapiens_hsa049780.23065483
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.22260262

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