STXBP1

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 a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.51472165
2synaptic vesicle exocytosis (GO:0016079)5.85312394
3locomotory exploration behavior (GO:0035641)5.76914406
4* synaptic vesicle maturation (GO:0016188)5.73823450
5* positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.55202491
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.55053600
7vocalization behavior (GO:0071625)5.37029932
8* glutamate secretion (GO:0014047)5.36980261
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.30915715
10* regulation of synaptic vesicle exocytosis (GO:2000300)5.09329898
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.04574639
12protein localization to synapse (GO:0035418)4.75442043
13* neurotransmitter secretion (GO:0007269)4.70318562
14regulation of glutamate receptor signaling pathway (GO:1900449)4.69720547
15neuronal action potential propagation (GO:0019227)4.61895931
16* regulation of synaptic vesicle transport (GO:1902803)4.50533714
17layer formation in cerebral cortex (GO:0021819)4.49480321
18exploration behavior (GO:0035640)4.46828922
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.45339175
20neuron cell-cell adhesion (GO:0007158)4.43545128
21cellular potassium ion homeostasis (GO:0030007)4.36588799
22gamma-aminobutyric acid transport (GO:0015812)4.27402815
23regulation of neuronal synaptic plasticity (GO:0048168)4.26072485
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.24908733
25neuronal ion channel clustering (GO:0045161)4.19535533
26synaptic transmission, glutamatergic (GO:0035249)4.11652925
27regulation of synapse structural plasticity (GO:0051823)4.06716337
28sodium ion export (GO:0071436)4.05885108
29glutamate receptor signaling pathway (GO:0007215)4.02164511
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.00478078
31L-amino acid import (GO:0043092)3.99767282
32proline transport (GO:0015824)3.95788166
33neuron-neuron synaptic transmission (GO:0007270)3.92533753
34neurotransmitter-gated ion channel clustering (GO:0072578)3.90071411
35cerebellar Purkinje cell differentiation (GO:0021702)3.84442974
36* neurotransmitter transport (GO:0006836)3.82858540
37long-term memory (GO:0007616)3.82364043
38activation of protein kinase A activity (GO:0034199)3.79632700
39dendritic spine morphogenesis (GO:0060997)3.79456999
40amino acid import (GO:0043090)3.78552050
41regulation of synapse maturation (GO:0090128)3.78280873
42positive regulation of membrane potential (GO:0045838)3.76801583
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.76284088
44positive regulation of synapse maturation (GO:0090129)3.76158152
45positive regulation of dendritic spine development (GO:0060999)3.67246955
46regulation of excitatory postsynaptic membrane potential (GO:0060079)3.66703923
47neuromuscular process controlling posture (GO:0050884)3.63994713
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.63321972
49synaptic vesicle endocytosis (GO:0048488)3.61847234
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.61352078
51positive regulation of dendritic spine morphogenesis (GO:0061003)3.58337379
52response to pheromone (GO:0019236)3.57466876
53regulation of postsynaptic membrane potential (GO:0060078)3.55470413
54central nervous system myelination (GO:0022010)3.53082856
55axon ensheathment in central nervous system (GO:0032291)3.53082856
56* regulation of neurotransmitter levels (GO:0001505)3.49205396
57cellular sodium ion homeostasis (GO:0006883)3.48919252
58positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.47742573
59* regulation of neurotransmitter secretion (GO:0046928)3.46793804
60neuromuscular process controlling balance (GO:0050885)3.43045977
61establishment of mitochondrion localization (GO:0051654)3.42343080
62glycine transport (GO:0015816)3.41754084
63gamma-aminobutyric acid signaling pathway (GO:0007214)3.41467473
64neuron recognition (GO:0008038)3.40547694
65negative regulation of dendrite morphogenesis (GO:0050774)3.40307739
66cell communication by electrical coupling (GO:0010644)3.40230634
67presynaptic membrane organization (GO:0097090)3.34997908
68dendritic spine organization (GO:0097061)3.33999521
69* regulation of synaptic plasticity (GO:0048167)3.33565013
70positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.32979033
71positive regulation of synaptic transmission, GABAergic (GO:0032230)3.32917009
72dendrite morphogenesis (GO:0048813)3.28696093
73long-term synaptic potentiation (GO:0060291)3.27650691
74establishment of synaptic vesicle localization (GO:0097480)3.26732640
75synaptic vesicle transport (GO:0048489)3.26732640
76transmission of nerve impulse (GO:0019226)3.26445015
77postsynaptic membrane organization (GO:0001941)3.26245253
78cerebellar granule cell differentiation (GO:0021707)3.25941795
79presynaptic membrane assembly (GO:0097105)3.25819248
80membrane depolarization during action potential (GO:0086010)3.22492663
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.21596272
82membrane hyperpolarization (GO:0060081)3.20139181
83* regulation of vesicle fusion (GO:0031338)3.20043875
84* regulation of neurotransmitter transport (GO:0051588)3.19603218
85auditory behavior (GO:0031223)3.19363639
86G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.19103304
87regulation of dendritic spine development (GO:0060998)3.18910735
88detection of calcium ion (GO:0005513)3.17918746
89response to auditory stimulus (GO:0010996)3.17615620
90regulation of dendritic spine morphogenesis (GO:0061001)3.16662450
91vesicle transport along microtubule (GO:0047496)3.16596708
92positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.14069382
93positive regulation of neurotransmitter transport (GO:0051590)3.13473347
94innervation (GO:0060384)3.13255649
95membrane depolarization (GO:0051899)3.12091123
96regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11906745
97regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.11879821
98axonal fasciculation (GO:0007413)3.11592115
99cell differentiation in hindbrain (GO:0021533)3.10049170
100acidic amino acid transport (GO:0015800)3.08984883
101positive regulation of neurotransmitter secretion (GO:0001956)3.08299189
102prepulse inhibition (GO:0060134)3.06566199
103synapse assembly (GO:0007416)3.06254443
104regulation of ARF protein signal transduction (GO:0032012)3.06184225
105mating behavior (GO:0007617)3.03365182
106neurotransmitter uptake (GO:0001504)3.00001173
107regulation of voltage-gated calcium channel activity (GO:1901385)2.99660426
108neuromuscular process (GO:0050905)2.98049897
109* synaptic transmission (GO:0007268)2.97930382
110cell migration in hindbrain (GO:0021535)2.97478910
111cerebellar Purkinje cell layer development (GO:0021680)2.97256483
112potassium ion homeostasis (GO:0055075)2.97164831
113cell communication involved in cardiac conduction (GO:0086065)2.96599862
114organelle transport along microtubule (GO:0072384)2.96334412
115potassium ion import (GO:0010107)2.96154366
116positive regulation of synaptic transmission (GO:0050806)2.95499643
117social behavior (GO:0035176)2.94457610
118intraspecies interaction between organisms (GO:0051703)2.94457610
119adult walking behavior (GO:0007628)2.91641827
120axon cargo transport (GO:0008088)2.91078500
121* regulation of synaptic transmission (GO:0050804)2.91050744
122learning (GO:0007612)2.90921359
123chemosensory behavior (GO:0007635)2.90603112

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.03366092
2GBX2_23144817_ChIP-Seq_PC3_Human3.28310390
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11043069
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04183639
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96471828
6REST_21632747_ChIP-Seq_MESCs_Mouse2.89540784
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.72148457
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.72148457
9DROSHA_22980978_ChIP-Seq_HELA_Human2.71670260
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63120246
11* RARB_27405468_Chip-Seq_BRAIN_Mouse2.61840073
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57601476
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55334425
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.51100905
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46919717
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42971786
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.41638442
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.40601869
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.29662179
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27886418
21CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.20702919
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.19992095
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.16640625
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.16399880
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.15955614
26* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08987518
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.05528136
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.00228198
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.99255861
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.93106245
31AR_21572438_ChIP-Seq_LNCaP_Human1.78279117
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.65774170
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.63839215
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58306116
35SMAD4_21799915_ChIP-Seq_A2780_Human1.58002642
36TAF15_26573619_Chip-Seq_HEK293_Human1.46508789
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45093927
38ZNF274_21170338_ChIP-Seq_K562_Hela1.44486794
39RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.40179834
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36263016
41DNAJC2_21179169_ChIP-ChIP_NT2_Human1.33943561
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33781485
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.30592333
44* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30210531
45AR_19668381_ChIP-Seq_PC3_Human1.26581903
46KDM2B_26808549_Chip-Seq_K562_Human1.23794387
47* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22237627
48SMAD_19615063_ChIP-ChIP_OVARY_Human1.21606085
49STAT3_23295773_ChIP-Seq_U87_Human1.20103787
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19820363
51ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18095975
52AR_25329375_ChIP-Seq_VCAP_Human1.17728594
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17421923
54P300_19829295_ChIP-Seq_ESCs_Human1.16459467
55* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.15447027
56TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.14808288
57ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13463224
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13096238
59ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.13027099
60SMAD3_21741376_ChIP-Seq_EPCs_Human1.12872259
61RING1B_27294783_Chip-Seq_NPCs_Mouse1.09919936
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09719497
63WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07981924
64TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06950908
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06581815
66YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05526547
67IGF1R_20145208_ChIP-Seq_DFB_Human1.05452351
68OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04403554
69CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03776896
70CBX2_27304074_Chip-Seq_ESCs_Mouse1.03448240
71BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02917434
72TCF4_23295773_ChIP-Seq_U87_Human1.02508621
73GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01453739
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01419913
75RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.00548739
76PIAS1_25552417_ChIP-Seq_VCAP_Human1.00176009
77SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00026853
78CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99425162
79SMAD3_21741376_ChIP-Seq_ESCs_Human0.99295088
80SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98905089
81ARNT_22903824_ChIP-Seq_MCF-7_Human0.97727597
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97516829
83TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.97482768
84RNF2_27304074_Chip-Seq_NSC_Mouse0.97250255
85SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96986807
86AHR_22903824_ChIP-Seq_MCF-7_Human0.95387659
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.94931194
88TET1_21490601_ChIP-Seq_MESCs_Mouse0.94929045
89SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91420402
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90999092
91GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90649506
92TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90048458
93RUNX2_22187159_ChIP-Seq_PCA_Human0.87297789
94SMAD3_21741376_ChIP-Seq_HESCs_Human0.86949098
95PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86685076
96CTCF_27219007_Chip-Seq_Bcells_Human0.85926808
97OCT4_19829295_ChIP-Seq_ESCs_Human0.85923899
98NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83569267
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83552817
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.83499240
101VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83494191
102* PRDM14_20953172_ChIP-Seq_ESCs_Human0.82560757
103TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82251652
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82207224
105ZFP281_27345836_Chip-Seq_ESCs_Mouse0.82132144
106FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.81994125
107TP53_20018659_ChIP-ChIP_R1E_Mouse0.81913415
108* GATA1_26923725_Chip-Seq_HPCs_Mouse0.81265256
109RXR_22108803_ChIP-Seq_LS180_Human0.81097677
110* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80173691
111LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79021283
112TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.79006460
113* DPY_21335234_ChIP-Seq_ESCs_Mouse0.78313414
114EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.78157717
115SOX9_26525672_Chip-Seq_HEART_Mouse0.77035145
116SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.75910857
117KLF4_19829295_ChIP-Seq_ESCs_Human0.74418718
118ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.74213247
119SRY_22984422_ChIP-ChIP_TESTIS_Rat0.74172141

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.39086317
2MP0003880_abnormal_central_pattern4.49548650
3* MP0003635_abnormal_synaptic_transmissio4.13923179
4MP0004270_analgesia3.84257650
5MP0009046_muscle_twitch3.38163017
6MP0009745_abnormal_behavioral_response3.29238450
7MP0002063_abnormal_learning/memory/cond3.22174216
8MP0002064_seizures3.17844976
9MP0001968_abnormal_touch/_nociception3.10882837
10MP0005423_abnormal_somatic_nervous3.05730997
11MP0002734_abnormal_mechanical_nocicepti2.83323055
12MP0002572_abnormal_emotion/affect_behav2.72315268
13MP0002272_abnormal_nervous_system2.63641609
14MP0001486_abnormal_startle_reflex2.48812846
15MP0002736_abnormal_nociception_after2.31367811
16MP0002735_abnormal_chemical_nociception2.28713711
17MP0001501_abnormal_sleep_pattern2.23574268
18MP0002733_abnormal_thermal_nociception2.19158339
19MP0002822_catalepsy2.12803874
20MP0001440_abnormal_grooming_behavior2.08830628
21MP0009780_abnormal_chondrocyte_physiolo2.08563855
22MP0008569_lethality_at_weaning2.08405329
23MP0001970_abnormal_pain_threshold2.06908000
24MP0002067_abnormal_sensory_capabilities2.05702493
25MP0002909_abnormal_adrenal_gland1.97281699
26MP0002184_abnormal_innervation1.91578171
27MP0003329_amyloid_beta_deposits1.90171589
28MP0004858_abnormal_nervous_system1.89794238
29MP0004811_abnormal_neuron_physiology1.85032231
30MP0003123_paternal_imprinting1.78121855
31MP0005386_behavior/neurological_phenoty1.77419816
32MP0004924_abnormal_behavior1.77419816
33MP0002557_abnormal_social/conspecific_i1.77005061
34MP0006276_abnormal_autonomic_nervous1.73452065
35MP0000778_abnormal_nervous_system1.71232568
36MP0001984_abnormal_olfaction1.63405198
37MP0000955_abnormal_spinal_cord1.63229710
38MP0003879_abnormal_hair_cell1.59945319
39MP0005646_abnormal_pituitary_gland1.57966995
40MP0002882_abnormal_neuron_morphology1.50803046
41MP0005551_abnormal_eye_electrophysiolog1.49794618
42MP0004885_abnormal_endolymph1.46485049
43MP0002066_abnormal_motor_capabilities/c1.44766802
44MP0001502_abnormal_circadian_rhythm1.41159115
45MP0003787_abnormal_imprinting1.40942715
46MP0003122_maternal_imprinting1.38476203
47MP0003633_abnormal_nervous_system1.37114945
48MP0005645_abnormal_hypothalamus_physiol1.35755437
49MP0004142_abnormal_muscle_tone1.27352356
50MP0004145_abnormal_muscle_electrophysio1.17785949
51MP0003631_nervous_system_phenotype1.15369845
52MP0000569_abnormal_digit_pigmentation1.13855802
53* MP0002229_neurodegeneration1.11491436
54MP0001905_abnormal_dopamine_level1.11071440
55MP0002152_abnormal_brain_morphology1.10575371
56MP0000013_abnormal_adipose_tissue1.10089247
57MP0003283_abnormal_digestive_organ1.09973445
58MP0003121_genomic_imprinting1.09458344
59MP0010386_abnormal_urinary_bladder1.03699788
60MP0008877_abnormal_DNA_methylation1.02248072
61MP0001529_abnormal_vocalization1.01964553
62MP0008961_abnormal_basal_metabolism1.01239342
63MP0008872_abnormal_physiological_respon1.00940505
64MP0000751_myopathy0.98992320
65MP0002069_abnormal_eating/drinking_beha0.94190628
66MP0006072_abnormal_retinal_apoptosis0.93063178
67MP0004147_increased_porphyrin_level0.92931155
68MP0001986_abnormal_taste_sensitivity0.92541616
69MP0002090_abnormal_vision0.90238582
70MP0003634_abnormal_glial_cell0.89652593
71MP0001188_hyperpigmentation0.87897385
72MP0002638_abnormal_pupillary_reflex0.87438430
73MP0005394_taste/olfaction_phenotype0.87208476
74MP0005499_abnormal_olfactory_system0.87208476
75MP0004233_abnormal_muscle_weight0.85976996
76MP0003632_abnormal_nervous_system0.85348598
77MP0004742_abnormal_vestibular_system0.84953032
78MP0002752_abnormal_somatic_nervous0.84388137
79MP0001348_abnormal_lacrimal_gland0.83371394
80MP0008874_decreased_physiological_sensi0.82262786
81MP0005535_abnormal_body_temperature0.81590285
82MP0004085_abnormal_heartbeat0.80195412
83MP0000604_amyloidosis0.80107663
84MP0001177_atelectasis0.77401199
85MP0005253_abnormal_eye_physiology0.76252203
86MP0001963_abnormal_hearing_physiology0.75243518
87MP0001485_abnormal_pinna_reflex0.74805809
88MP0003690_abnormal_glial_cell0.74349802
89MP0003172_abnormal_lysosome_physiology0.72774019
90MP0000631_abnormal_neuroendocrine_gland0.72744778
91MP0000920_abnormal_myelination0.72145676
92MP0004215_abnormal_myocardial_fiber0.71401190
93MP0003075_altered_response_to0.69519117
94MP0004043_abnormal_pH_regulation0.68345068
95MP0001299_abnormal_eye_distance/0.66581729
96MP0002837_dystrophic_cardiac_calcinosis0.63565329
97MP0005623_abnormal_meninges_morphology0.62624442
98MP0003137_abnormal_impulse_conducting0.60867564
99MP0005167_abnormal_blood-brain_barrier0.58252700
100MP0003183_abnormal_peptide_metabolism0.58086959
101MP0001664_abnormal_digestion0.57716694
102MP0005187_abnormal_penis_morphology0.57525719
103MP0005409_darkened_coat_color0.56524317
104MP0010768_mortality/aging0.56512536
105MP0010769_abnormal_survival0.55849167
106MP0001943_abnormal_respiration0.55165189
107MP0004484_altered_response_of0.55131665
108MP0003861_abnormal_nervous_system0.54480923
109MP0010770_preweaning_lethality0.53748978
110MP0002082_postnatal_lethality0.53748978
111MP0000639_abnormal_adrenal_gland0.53169477
112MP0003956_abnormal_body_size0.52114167
113MP0004130_abnormal_muscle_cell0.50682862
114MP0001346_abnormal_lacrimal_gland0.47603283
115MP0000026_abnormal_inner_ear0.46043046

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.87915449
2Myokymia (HP:0002411)6.52796133
3Visual hallucinations (HP:0002367)5.67631504
4Focal seizures (HP:0007359)5.60168343
5Progressive cerebellar ataxia (HP:0002073)4.76616557
6Atonic seizures (HP:0010819)4.49262568
7Febrile seizures (HP:0002373)4.38457941
8Action tremor (HP:0002345)4.31145660
9* Epileptic encephalopathy (HP:0200134)4.17540783
10Absence seizures (HP:0002121)4.08735897
11Supranuclear gaze palsy (HP:0000605)3.96260603
12Dialeptic seizures (HP:0011146)3.65535101
13Ankle clonus (HP:0011448)3.55086976
14Broad-based gait (HP:0002136)3.46603265
15Poor eye contact (HP:0000817)3.43895623
16Depression (HP:0000716)3.43046396
17Gaze-evoked nystagmus (HP:0000640)3.41615000
18Mutism (HP:0002300)3.41466975
19Dysdiadochokinesis (HP:0002075)3.30764706
20* Generalized tonic-clonic seizures (HP:0002069)3.28568522
21Papilledema (HP:0001085)3.18737649
22Truncal ataxia (HP:0002078)3.16306321
23Abnormal social behavior (HP:0012433)3.12371838
24Impaired social interactions (HP:0000735)3.12371838
25Genetic anticipation (HP:0003743)3.11622446
26Postural instability (HP:0002172)3.09133129
27Dysmetria (HP:0001310)3.03621283
28Abnormal eating behavior (HP:0100738)3.02470641
29Impaired vibration sensation in the lower limbs (HP:0002166)3.02343810
30Urinary bladder sphincter dysfunction (HP:0002839)3.02339444
31Akinesia (HP:0002304)3.00205459
32Anxiety (HP:0000739)2.99135076
33Abnormality of the lower motor neuron (HP:0002366)2.90067346
34Sleep apnea (HP:0010535)2.79441063
35Hyperventilation (HP:0002883)2.73115967
36Peripheral hypomyelination (HP:0007182)2.72630674
37Limb dystonia (HP:0002451)2.72585426
38Pheochromocytoma (HP:0002666)2.71858408
39Hemiplegia (HP:0002301)2.71086441
40Amblyopia (HP:0000646)2.69480231
41Hemiparesis (HP:0001269)2.68938718
42Scanning speech (HP:0002168)2.68923917
43Delusions (HP:0000746)2.63306099
44Torticollis (HP:0000473)2.62591775
45Drooling (HP:0002307)2.61337706
46Excessive salivation (HP:0003781)2.61337706
47Abnormality of binocular vision (HP:0011514)2.59509633
48Diplopia (HP:0000651)2.59509633
49Spastic gait (HP:0002064)2.59401069
50Intention tremor (HP:0002080)2.58893436
51Urinary urgency (HP:0000012)2.56779539
52Dysmetric saccades (HP:0000641)2.54666051
53Ventricular fibrillation (HP:0001663)2.54034564
54Bradykinesia (HP:0002067)2.53926596
55Progressive inability to walk (HP:0002505)2.53288244
56Agitation (HP:0000713)2.50895189
57Central scotoma (HP:0000603)2.48918334
58Neurofibrillary tangles (HP:0002185)2.42657484
59Focal dystonia (HP:0004373)2.40860754
60Apathy (HP:0000741)2.35332559
61Cerebral inclusion bodies (HP:0100314)2.34213687
62Stereotypic behavior (HP:0000733)2.34076920
63* Status epilepticus (HP:0002133)2.32469864
64Morphological abnormality of the pyramidal tract (HP:0002062)2.32290320
65Abnormality of the corticospinal tract (HP:0002492)2.30488088
66Neuroendocrine neoplasm (HP:0100634)2.30021615
67Termporal pattern (HP:0011008)2.27480504
68Insidious onset (HP:0003587)2.27480504
69Megalencephaly (HP:0001355)2.25017987
70Spastic tetraparesis (HP:0001285)2.24711521
71* Impaired smooth pursuit (HP:0007772)2.24092085
72Amyotrophic lateral sclerosis (HP:0007354)2.22158004
73Polyphagia (HP:0002591)2.21836359
74Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.20916674
75Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18208197
76Degeneration of the lateral corticospinal tracts (HP:0002314)2.18208197
77Choreoathetosis (HP:0001266)2.17266309
78Insomnia (HP:0100785)2.16073833
79Craniofacial dystonia (HP:0012179)2.15583592
80Lower limb muscle weakness (HP:0007340)2.13332267
81Diminished motivation (HP:0000745)2.13287515
82Fetal akinesia sequence (HP:0001989)2.12837831
83* Abnormality of ocular smooth pursuit (HP:0000617)2.09679972
84* Epileptiform EEG discharges (HP:0011182)2.06645050
85Impaired vibratory sensation (HP:0002495)2.05563605
86Failure to thrive in infancy (HP:0001531)2.05468483
87Gait ataxia (HP:0002066)2.04088917
88Inability to walk (HP:0002540)2.03630589
89Hand muscle atrophy (HP:0009130)2.02584451
90Pointed chin (HP:0000307)2.01321179
91* EEG with generalized epileptiform discharges (HP:0011198)2.00960783
92Clonus (HP:0002169)2.00745362
93Annular pancreas (HP:0001734)2.00461547
94Hypoventilation (HP:0002791)1.99863561
95Neuronal loss in central nervous system (HP:0002529)1.98888739
96Abnormality of macular pigmentation (HP:0008002)1.97332509
97* Cerebral hypomyelination (HP:0006808)1.96490688
98Congenital stationary night blindness (HP:0007642)1.93700090
99Abnormality of saccadic eye movements (HP:0000570)1.93606955
100Rigidity (HP:0002063)1.93494230
101Postural tremor (HP:0002174)1.89333955
102Bundle branch block (HP:0011710)1.88247806
103Psychosis (HP:0000709)1.85578169
104* Hypsarrhythmia (HP:0002521)1.85503662
105Specific learning disability (HP:0001328)1.84767002
106Inappropriate behavior (HP:0000719)1.84537234
107Incomplete penetrance (HP:0003829)1.83728978
108Hypercortisolism (HP:0001578)1.82627316
109Neoplasm of the peripheral nervous system (HP:0100007)1.80052558
110Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.79727894
111Blue irides (HP:0000635)1.78832868
112Tetraplegia (HP:0002445)1.78647321
113Abnormal EKG (HP:0003115)1.78639611
114Rapidly progressive (HP:0003678)1.78049790
115Distal upper limb amyotrophy (HP:0007149)1.77016034
116Upper limb amyotrophy (HP:0009129)1.77016034
117Obstructive sleep apnea (HP:0002870)1.76825396
118Lower limb amyotrophy (HP:0007210)1.75264620
119Heterochromia iridis (HP:0001100)1.74750583
120Muscular hypotonia of the trunk (HP:0008936)1.74520108
121Increased circulating renin level (HP:0000848)1.74324067
122Spinal canal stenosis (HP:0003416)1.71200676
123Prolonged QT interval (HP:0001657)1.70950576
124* Spastic tetraplegia (HP:0002510)1.70949708
125Iris hypopigmentation (HP:0007730)1.70728383

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.21981569
2MAP3K94.17886213
3MARK13.45479412
4EPHA43.20752862
5MAP3K43.18447471
6MINK12.87097400
7MAP2K72.59659718
8PAK62.58561350
9DAPK22.57465469
10NTRK22.14952601
11KSR22.10972501
12CAMKK12.04763159
13MAP2K42.01143455
14PRKD32.00573716
15NTRK12.00259189
16MAP3K121.98758942
17CDK191.64990620
18CAMKK21.52940602
19STK381.52106529
20RIPK41.51080799
21* CDK51.51053765
22KSR11.50287141
23CASK1.49538370
24GRK51.48615656
25DAPK11.47579455
26PLK21.40051238
27UHMK11.35065727
28SIK21.33308989
29PNCK1.32108098
30MAPK131.28407971
31PHKG21.22631385
32PHKG11.22631385
33MAP3K21.21730549
34LATS21.20765224
35PRPF4B1.18548102
36ARAF1.18376033
37TNIK1.11328962
38TAOK11.10440464
39TYRO31.09239349
40FES1.04467861
41RET1.03894473
42* PRKCG1.02171367
43CAMK10.97109330
44PRKCH0.95008518
45SGK4940.94089322
46SGK2230.94089322
47STK110.93728271
48MAP3K130.90180333
49LIMK10.89990209
50CAMK2A0.89035317
51PINK10.87340848
52ALK0.87189709
53PAK30.86176628
54LMTK20.84574312
55RIPK10.83282989
56* CDK140.79577966
57* CDK180.79468618
58* CDK150.77254913
59DYRK1A0.76008416
60SCYL20.75835867
61CSNK1G20.74955551
62TESK10.74941248
63FGFR20.74613015
64NEK10.73500521
65WNK10.73458509
66SGK20.72700281
67OXSR10.72324445
68PKN10.70342240
69SGK30.70128425
70MARK20.70116754
71MAP3K10.67321942
72* CDK11A0.65894152
73CAMK2B0.65762616
74CCNB10.64340744
75CAMK1G0.63589411
76SGK10.63110638
77PDK10.62777495
78BRAF0.62504363
79RAF10.62401690
80CDC42BPA0.60339411
81PDPK10.56755823
82PRKCZ0.55151479
83TNK20.51957544
84DYRK20.51317693
85RPS6KA30.50972813
86PTK2B0.50340945
87CSNK1G30.48497405
88CAMK2D0.47894061
89FER0.47121402
90MAP3K110.46002594
91PRKCE0.45978823
92BRSK10.45803244
93CAMK40.45421266
94CAMK2G0.44969868
95MAPK100.44627280
96FYN0.43343746
97CSNK1A1L0.42251721
98BMPR20.41318860
99WNK30.39470367
100RPS6KA20.39301907
101NEK60.39284416
102MAP2K10.38558261
103BCR0.38352129
104DAPK30.37199097
105MAPKAPK50.35900170
106CSNK1E0.34872716
107SIK30.34175694
108MAPK120.34003519
109MAP3K70.31236556
110PRKACA0.30777637
111MAPK80.30519385
112* PRKCA0.30355919
113CSNK1D0.30339280
114PRKG10.29980046
115ROCK20.29562584
116ERBB20.29005632
117* PRKCB0.28789288

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.52878733
2* Synaptic vesicle cycle_Homo sapiens_hsa047213.52156661
3GABAergic synapse_Homo sapiens_hsa047272.74525659
4Circadian entrainment_Homo sapiens_hsa047132.64006943
5Olfactory transduction_Homo sapiens_hsa047402.63765155
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.59640820
7Long-term potentiation_Homo sapiens_hsa047202.51990902
8Glutamatergic synapse_Homo sapiens_hsa047242.50429946
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45407198
10Morphine addiction_Homo sapiens_hsa050322.42213997
11Amphetamine addiction_Homo sapiens_hsa050312.30836143
12Insulin secretion_Homo sapiens_hsa049112.17635744
13Dopaminergic synapse_Homo sapiens_hsa047282.15789149
14Salivary secretion_Homo sapiens_hsa049702.11062426
15Cholinergic synapse_Homo sapiens_hsa047251.92204026
16Gastric acid secretion_Homo sapiens_hsa049711.84431967
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.82476929
18Taste transduction_Homo sapiens_hsa047421.75342011
19Long-term depression_Homo sapiens_hsa047301.68250151
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67783564
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.67112156
22Cocaine addiction_Homo sapiens_hsa050301.64017419
23Serotonergic synapse_Homo sapiens_hsa047261.59770075
24Oxytocin signaling pathway_Homo sapiens_hsa049211.57906369
25Renin secretion_Homo sapiens_hsa049241.57413774
26Phototransduction_Homo sapiens_hsa047441.55585982
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44500421
28Calcium signaling pathway_Homo sapiens_hsa040201.42414963
29Collecting duct acid secretion_Homo sapiens_hsa049661.41976799
30GnRH signaling pathway_Homo sapiens_hsa049121.40474789
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.38337717
32Type II diabetes mellitus_Homo sapiens_hsa049301.37174939
33Gap junction_Homo sapiens_hsa045401.33783942
34Vitamin B6 metabolism_Homo sapiens_hsa007501.29952139
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28723652
36cAMP signaling pathway_Homo sapiens_hsa040241.22423827
37Estrogen signaling pathway_Homo sapiens_hsa049151.18681648
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18580678
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11706148
40Glioma_Homo sapiens_hsa052141.08542300
41Vibrio cholerae infection_Homo sapiens_hsa051101.01643346
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01584524
43ErbB signaling pathway_Homo sapiens_hsa040121.00004603
44Axon guidance_Homo sapiens_hsa043600.99027798
45Nitrogen metabolism_Homo sapiens_hsa009100.96375193
46Melanogenesis_Homo sapiens_hsa049160.95351888
47Pancreatic secretion_Homo sapiens_hsa049720.89356282
48Cardiac muscle contraction_Homo sapiens_hsa042600.88470105
49Oocyte meiosis_Homo sapiens_hsa041140.87443570
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86262261
51Dorso-ventral axis formation_Homo sapiens_hsa043200.86182998
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85825655
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.85817298
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.84252440
55Thyroid hormone synthesis_Homo sapiens_hsa049180.83580364
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.82859488
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72208791
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71576818
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.69524021
60Dilated cardiomyopathy_Homo sapiens_hsa054140.69392589
61Choline metabolism in cancer_Homo sapiens_hsa052310.69073052
62MAPK signaling pathway_Homo sapiens_hsa040100.68570073
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62491255
64mTOR signaling pathway_Homo sapiens_hsa041500.62310163
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61036175
66Glucagon signaling pathway_Homo sapiens_hsa049220.60292312
67VEGF signaling pathway_Homo sapiens_hsa043700.60143058
68Circadian rhythm_Homo sapiens_hsa047100.57772631
69Inositol phosphate metabolism_Homo sapiens_hsa005620.57472882
70Type I diabetes mellitus_Homo sapiens_hsa049400.56253088
71Endocytosis_Homo sapiens_hsa041440.55049590
72Ras signaling pathway_Homo sapiens_hsa040140.53331765
73Bile secretion_Homo sapiens_hsa049760.53036165
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.52540361
75Alcoholism_Homo sapiens_hsa050340.51638540
76Endometrial cancer_Homo sapiens_hsa052130.50372913
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.49907473
78Insulin signaling pathway_Homo sapiens_hsa049100.48359834
79Rap1 signaling pathway_Homo sapiens_hsa040150.46504436
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46377744
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45369731
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44924175
83Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44830273
84Renal cell carcinoma_Homo sapiens_hsa052110.44108289
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43864629
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42077359
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41514874
88Prion diseases_Homo sapiens_hsa050200.41496303
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.40167437
90Alzheimers disease_Homo sapiens_hsa050100.39456921
91Non-small cell lung cancer_Homo sapiens_hsa052230.39162200
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39057651
93Arginine and proline metabolism_Homo sapiens_hsa003300.38958996
94Arginine biosynthesis_Homo sapiens_hsa002200.38733248
95AMPK signaling pathway_Homo sapiens_hsa041520.37913527
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37564962
97Fatty acid biosynthesis_Homo sapiens_hsa000610.36465152
98Wnt signaling pathway_Homo sapiens_hsa043100.35405816
99Chemokine signaling pathway_Homo sapiens_hsa040620.33303548
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32098563
101Ovarian steroidogenesis_Homo sapiens_hsa049130.31819312
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.31357413
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.29856148
104Prolactin signaling pathway_Homo sapiens_hsa049170.29271433
105beta-Alanine metabolism_Homo sapiens_hsa004100.29050186
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28762298
107Colorectal cancer_Homo sapiens_hsa052100.27783109
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.27157902
109Tight junction_Homo sapiens_hsa045300.27150119
110Mineral absorption_Homo sapiens_hsa049780.26972378
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.26634268
112Regulation of autophagy_Homo sapiens_hsa041400.25623888
113Butanoate metabolism_Homo sapiens_hsa006500.24829224
114Hippo signaling pathway_Homo sapiens_hsa043900.24136445
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.18725078

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