BSN

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: Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.64783380
2synaptic vesicle maturation (GO:0016188)6.46394729
3locomotory exploration behavior (GO:0035641)6.38187953
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.26772790
5vocalization behavior (GO:0071625)5.99792398
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.75135336
7synaptic vesicle exocytosis (GO:0016079)5.68079082
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.66783409
9glutamate secretion (GO:0014047)5.64879200
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.60216729
11regulation of synaptic vesicle exocytosis (GO:2000300)5.24360987
12regulation of glutamate receptor signaling pathway (GO:1900449)5.23104951
13ionotropic glutamate receptor signaling pathway (GO:0035235)5.08268459
14protein localization to synapse (GO:0035418)4.96680656
15exploration behavior (GO:0035640)4.84895411
16neuronal action potential propagation (GO:0019227)4.81121425
17regulation of neuronal synaptic plasticity (GO:0048168)4.77300087
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.77157822
19regulation of synaptic vesicle transport (GO:1902803)4.68144847
20neurotransmitter secretion (GO:0007269)4.65184243
21synaptic transmission, glutamatergic (GO:0035249)4.62724837
22glutamate receptor signaling pathway (GO:0007215)4.51874379
23neuron cell-cell adhesion (GO:0007158)4.49738508
24dendritic spine morphogenesis (GO:0060997)4.49149740
25regulation of synapse structural plasticity (GO:0051823)4.46815950
26neurotransmitter-gated ion channel clustering (GO:0072578)4.37667020
27layer formation in cerebral cortex (GO:0021819)4.30591256
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.27612755
29positive regulation of membrane potential (GO:0045838)4.21833492
30neuron-neuron synaptic transmission (GO:0007270)4.21604294
31cellular potassium ion homeostasis (GO:0030007)4.21489538
32long-term memory (GO:0007616)4.18301609
33regulation of excitatory postsynaptic membrane potential (GO:0060079)4.15938158
34gamma-aminobutyric acid transport (GO:0015812)4.15830004
35potassium ion homeostasis (GO:0055075)4.09839342
36amino acid import (GO:0043090)4.06209367
37proline transport (GO:0015824)4.03808334
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.99885501
39regulation of postsynaptic membrane potential (GO:0060078)3.96763863
40positive regulation of synapse maturation (GO:0090129)3.95157854
41sodium ion export (GO:0071436)3.92689639
42cerebellar Purkinje cell differentiation (GO:0021702)3.89510930
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.84426503
44central nervous system myelination (GO:0022010)3.80129448
45axon ensheathment in central nervous system (GO:0032291)3.80129448
46regulation of synaptic plasticity (GO:0048167)3.80092007
47positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.76659438
48regulation of dendritic spine morphogenesis (GO:0061001)3.73346062
49neurotransmitter transport (GO:0006836)3.72089015
50neuromuscular process controlling balance (GO:0050885)3.71264706
51potassium ion import (GO:0010107)3.68750107
52regulation of neurotransmitter secretion (GO:0046928)3.66344219
53synaptic vesicle endocytosis (GO:0048488)3.65237722
54G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.57355974
55auditory behavior (GO:0031223)3.55719108
56activation of protein kinase A activity (GO:0034199)3.55426664
57positive regulation of neurotransmitter secretion (GO:0001956)3.54901474
58cellular sodium ion homeostasis (GO:0006883)3.53140455
59negative regulation of dendrite morphogenesis (GO:0050774)3.52152179
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.51692297
61regulation of voltage-gated calcium channel activity (GO:1901385)3.50891220
62regulation of synaptic transmission, glutamatergic (GO:0051966)3.50525267
63cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.48266499
64gamma-aminobutyric acid signaling pathway (GO:0007214)3.47474301
65transmission of nerve impulse (GO:0019226)3.46880117
66regulation of neurotransmitter levels (GO:0001505)3.46489716
67neuromuscular synaptic transmission (GO:0007274)3.46421450
68positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.45089199
69presynaptic membrane organization (GO:0097090)3.44225982
70long-term synaptic potentiation (GO:0060291)3.43918855
71membrane depolarization during action potential (GO:0086010)3.43097174
72membrane depolarization (GO:0051899)3.41678918
73postsynaptic membrane organization (GO:0001941)3.41654549
74neuron recognition (GO:0008038)3.41512539
75neuromuscular process controlling posture (GO:0050884)3.40871149
76presynaptic membrane assembly (GO:0097105)3.38597147
77positive regulation of neurotransmitter transport (GO:0051590)3.37011878
78cell differentiation in hindbrain (GO:0021533)3.35906849
79regulation of neurotransmitter transport (GO:0051588)3.35842428
80membrane hyperpolarization (GO:0060081)3.35600613
81response to auditory stimulus (GO:0010996)3.35224993
82dendrite morphogenesis (GO:0048813)3.31317853
83cell communication by electrical coupling (GO:0010644)3.30976738
84G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.30834169
85regulation of ARF protein signal transduction (GO:0032012)3.30703115
86dendritic spine organization (GO:0097061)3.29582783
87negative regulation of synaptic transmission, GABAergic (GO:0032229)3.28595573
88cerebellar granule cell differentiation (GO:0021707)3.28422047
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.27771960
90glycine transport (GO:0015816)3.27670220
91regulation of vesicle fusion (GO:0031338)3.27054619
92positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.26136638
93L-amino acid import (GO:0043092)3.23113058
94axonal fasciculation (GO:0007413)3.22823011
95establishment of mitochondrion localization (GO:0051654)3.22392009
96prepulse inhibition (GO:0060134)3.22214452
97cell migration in hindbrain (GO:0021535)3.20368960
98regulation of dendritic spine development (GO:0060998)3.18865906
99positive regulation of dendritic spine development (GO:0060999)3.17911620
100learning (GO:0007612)3.16921529
101innervation (GO:0060384)3.15091806
102chemosensory behavior (GO:0007635)3.14964994
103* synaptic transmission (GO:0007268)3.14450320
104intraspecies interaction between organisms (GO:0051703)3.12735731
105social behavior (GO:0035176)3.12735731
106regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.12416969
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11430505
108regulation of synaptic transmission (GO:0050804)3.10989406
109neuromuscular process (GO:0050905)3.10895383
110negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.09010403
111positive regulation of synaptic transmission (GO:0050806)3.07532939
112neuronal ion channel clustering (GO:0045161)3.07285192
113acidic amino acid transport (GO:0015800)3.05574301
114behavioral fear response (GO:0001662)3.04611607
115behavioral defense response (GO:0002209)3.04611607
116response to histamine (GO:0034776)3.04207878
117synapse assembly (GO:0007416)3.03620171
118regulation of synapse maturation (GO:0090128)3.03177652
119adult walking behavior (GO:0007628)3.02656125
120synaptic vesicle transport (GO:0048489)3.01411433
121establishment of synaptic vesicle localization (GO:0097480)3.01411433

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.31510111
2GBX2_23144817_ChIP-Seq_PC3_Human3.43808250
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.16850526
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.16224434
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10206399
6REST_21632747_ChIP-Seq_MESCs_Mouse2.90089702
7DROSHA_22980978_ChIP-Seq_HELA_Human2.87219969
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81373938
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81373938
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.79821163
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.70009757
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59897041
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56820799
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.55684732
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53040711
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.47106094
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43802900
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32874077
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.32428726
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.31954417
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.27724942
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.27692417
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.24437253
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.23643205
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.20067509
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10357237
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.02067233
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.95024613
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.83853576
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.83389036
31AR_21572438_ChIP-Seq_LNCaP_Human1.76763962
32* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71135695
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.67292689
34* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57927564
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.56759717
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.47778778
37* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.37647481
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.34875149
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33989371
40TAF15_26573619_Chip-Seq_HEK293_Human1.33967384
41ZNF274_21170338_ChIP-Seq_K562_Hela1.33741801
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.29610526
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.28145646
44* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.27863749
45AR_19668381_ChIP-Seq_PC3_Human1.26544355
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25931015
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25598124
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25381361
49KDM2B_26808549_Chip-Seq_K562_Human1.23123794
50CTCF_27219007_Chip-Seq_Bcells_Human1.22786941
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21389413
52OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.21210058
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.20394875
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.20240652
55STAT3_23295773_ChIP-Seq_U87_Human1.20167002
56P300_19829295_ChIP-Seq_ESCs_Human1.20126266
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19951680
58AR_25329375_ChIP-Seq_VCAP_Human1.19817382
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.17565273
60GATA1_26923725_Chip-Seq_HPCs_Mouse1.15625814
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.15275341
62* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13260720
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.12382443
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09440356
65* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08964358
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08789506
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08691272
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06965651
69ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06759124
70TCF4_23295773_ChIP-Seq_U87_Human1.06380407
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05243037
72VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.05122268
73IGF1R_20145208_ChIP-Seq_DFB_Human1.03363425
74OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03282017
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02813845
76CBX2_27304074_Chip-Seq_ESCs_Mouse1.02389577
77ARNT_22903824_ChIP-Seq_MCF-7_Human1.01640405
78* RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.01337529
79* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99253820
80CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98015037
81TP53_16413492_ChIP-PET_HCT116_Human0.97106222
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96715593
83AHR_22903824_ChIP-Seq_MCF-7_Human0.96667308
84SMAD3_21741376_ChIP-Seq_ESCs_Human0.96623894
85PIAS1_25552417_ChIP-Seq_VCAP_Human0.96463783
86CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96165936
87SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94608340
88TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94084230
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.93877666
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93772499
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.93504563
92RXR_22108803_ChIP-Seq_LS180_Human0.93074396
93CDX2_19796622_ChIP-Seq_MESCs_Mouse0.92724601
94ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92001471
95TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91719798
96RNF2_27304074_Chip-Seq_NSC_Mouse0.91694687
97OCT4_19829295_ChIP-Seq_ESCs_Human0.91641297
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.91169390
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90469003
100ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90356892
101AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90218478
102TET1_21490601_ChIP-Seq_MESCs_Mouse0.89553453
103NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89059707
104TP53_20018659_ChIP-ChIP_R1E_Mouse0.88705089
105RUNX2_22187159_ChIP-Seq_PCA_Human0.88462782
106DPY_21335234_ChIP-Seq_ESCs_Mouse0.87933827
107PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87729036
108BMI1_23680149_ChIP-Seq_NPCS_Mouse0.87039858
109POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86687706
110TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86687706
111EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86608681
112TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85224880
113SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.84451110
114KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82208280
115LXR_22292898_ChIP-Seq_THP-1_Human0.79156977
116SMC4_20622854_ChIP-Seq_HELA_Human0.77233966
117ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.76989688
118LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76708207
119KLF4_19829295_ChIP-Seq_ESCs_Human0.75240172
120* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.74866236
121CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74422663
122RUNX1_26923725_Chip-Seq_HPCs_Mouse0.74121766

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.36076754
2MP0003880_abnormal_central_pattern4.69181542
3* MP0003635_abnormal_synaptic_transmissio4.39171694
4MP0004270_analgesia3.97662183
5* MP0009745_abnormal_behavioral_response3.50190078
6MP0002063_abnormal_learning/memory/cond3.47893336
7* MP0002064_seizures3.26304003
8* MP0009046_muscle_twitch3.19004029
9MP0001968_abnormal_touch/_nociception3.14244895
10MP0005423_abnormal_somatic_nervous2.99146181
11MP0002572_abnormal_emotion/affect_behav2.90900539
12MP0002734_abnormal_mechanical_nocicepti2.77920948
13MP0002822_catalepsy2.73725323
14MP0001486_abnormal_startle_reflex2.68971326
15* MP0002272_abnormal_nervous_system2.66644167
16MP0001501_abnormal_sleep_pattern2.39735229
17MP0002736_abnormal_nociception_after2.32624047
18MP0002735_abnormal_chemical_nociception2.29105489
19MP0008569_lethality_at_weaning2.18256805
20MP0001440_abnormal_grooming_behavior2.10184990
21MP0002733_abnormal_thermal_nociception2.03556468
22MP0009780_abnormal_chondrocyte_physiolo2.03017142
23MP0002067_abnormal_sensory_capabilities2.01480115
24MP0001970_abnormal_pain_threshold1.98525136
25MP0004858_abnormal_nervous_system1.90379471
26MP0004811_abnormal_neuron_physiology1.89411856
27MP0002184_abnormal_innervation1.85704949
28MP0002557_abnormal_social/conspecific_i1.80639057
29MP0005386_behavior/neurological_phenoty1.75741505
30MP0004924_abnormal_behavior1.75741505
31MP0002909_abnormal_adrenal_gland1.72587803
32MP0003329_amyloid_beta_deposits1.71330302
33MP0000778_abnormal_nervous_system1.70133516
34MP0003123_paternal_imprinting1.69965049
35MP0005646_abnormal_pituitary_gland1.66126887
36MP0000955_abnormal_spinal_cord1.54977271
37MP0001984_abnormal_olfaction1.54703633
38MP0003633_abnormal_nervous_system1.48012422
39MP0000569_abnormal_digit_pigmentation1.44192225
40MP0004885_abnormal_endolymph1.43772187
41* MP0002066_abnormal_motor_capabilities/c1.43762299
42MP0002882_abnormal_neuron_morphology1.43280015
43MP0003787_abnormal_imprinting1.40749320
44MP0005645_abnormal_hypothalamus_physiol1.39887059
45MP0006276_abnormal_autonomic_nervous1.39875711
46* MP0003879_abnormal_hair_cell1.30761257
47MP0001502_abnormal_circadian_rhythm1.25688342
48MP0003631_nervous_system_phenotype1.23851123
49MP0004142_abnormal_muscle_tone1.17472001
50MP0008872_abnormal_physiological_respon1.14591923
51MP0001905_abnormal_dopamine_level1.11771710
52MP0002152_abnormal_brain_morphology1.11009766
53MP0001348_abnormal_lacrimal_gland1.09484033
54MP0004145_abnormal_muscle_electrophysio1.07740466
55MP0001529_abnormal_vocalization1.06311569
56MP0003075_altered_response_to1.04684219
57MP0008874_decreased_physiological_sensi1.00338662
58MP0003121_genomic_imprinting0.98800240
59MP0002229_neurodegeneration0.97536753
60MP0008961_abnormal_basal_metabolism0.96485090
61MP0002069_abnormal_eating/drinking_beha0.95307613
62MP0003122_maternal_imprinting0.94791510
63MP0005551_abnormal_eye_electrophysiolog0.93381688
64MP0001188_hyperpigmentation0.92555071
65MP0004742_abnormal_vestibular_system0.92202381
66MP0008877_abnormal_DNA_methylation0.91318156
67MP0001177_atelectasis0.90507463
68MP0003283_abnormal_digestive_organ0.90372380
69MP0004147_increased_porphyrin_level0.87667657
70MP0003632_abnormal_nervous_system0.87437021
71MP0001986_abnormal_taste_sensitivity0.85976685
72MP0003690_abnormal_glial_cell0.85631832
73MP0000751_myopathy0.82929286
74MP0004510_myositis0.82086802
75MP0004085_abnormal_heartbeat0.81338007
76MP0000920_abnormal_myelination0.79940534
77MP0010386_abnormal_urinary_bladder0.79825817
78MP0005535_abnormal_body_temperature0.79481705
79MP0005499_abnormal_olfactory_system0.76774906
80MP0005394_taste/olfaction_phenotype0.76774906
81MP0003634_abnormal_glial_cell0.75574740
82MP0001346_abnormal_lacrimal_gland0.73664188
83MP0000604_amyloidosis0.73503074
84MP0003172_abnormal_lysosome_physiology0.70283330
85* MP0001963_abnormal_hearing_physiology0.70141042
86MP0002090_abnormal_vision0.69301412
87MP0002752_abnormal_somatic_nervous0.67755695
88MP0001485_abnormal_pinna_reflex0.67287408
89MP0000631_abnormal_neuroendocrine_gland0.66494906
90MP0005167_abnormal_blood-brain_barrier0.66111027
91MP0005409_darkened_coat_color0.64714350
92MP0004215_abnormal_myocardial_fiber0.64123229
93MP0004130_abnormal_muscle_cell0.64072878
94MP0000013_abnormal_adipose_tissue0.63366859
95MP0004484_altered_response_of0.58887005
96MP0001664_abnormal_digestion0.58507949
97MP0003137_abnormal_impulse_conducting0.58117611
98MP0010769_abnormal_survival0.57208448
99MP0004233_abnormal_muscle_weight0.56416330
100MP0002638_abnormal_pupillary_reflex0.55828403
101MP0010768_mortality/aging0.53870415
102MP0010770_preweaning_lethality0.53514229
103MP0002082_postnatal_lethality0.53514229
104MP0003861_abnormal_nervous_system0.52671959
105MP0005623_abnormal_meninges_morphology0.52494098
106MP0001943_abnormal_respiration0.52273606
107MP0002249_abnormal_larynx_morphology0.51924846
108MP0000026_abnormal_inner_ear0.51784588
109MP0003045_fibrosis0.51718444
110MP0003956_abnormal_body_size0.50900172
111MP0004043_abnormal_pH_regulation0.50229616
112MP0002089_abnormal_postnatal_growth/wei0.45642328

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.94058842
2Myokymia (HP:0002411)7.51610731
3Focal seizures (HP:0007359)6.20210371
4Visual hallucinations (HP:0002367)5.64200607
5Epileptic encephalopathy (HP:0200134)5.08234644
6Progressive cerebellar ataxia (HP:0002073)4.97440758
7Action tremor (HP:0002345)4.71542257
8Febrile seizures (HP:0002373)4.68301663
9Atonic seizures (HP:0010819)4.52089490
10Absence seizures (HP:0002121)4.22943553
11Gaze-evoked nystagmus (HP:0000640)4.06003038
12Generalized tonic-clonic seizures (HP:0002069)3.97476058
13Broad-based gait (HP:0002136)3.91818606
14Dialeptic seizures (HP:0011146)3.86875512
15Poor eye contact (HP:0000817)3.79638425
16Ankle clonus (HP:0011448)3.55096979
17Supranuclear gaze palsy (HP:0000605)3.53362086
18Impaired vibration sensation in the lower limbs (HP:0002166)3.53132698
19Dysdiadochokinesis (HP:0002075)3.45607425
20Depression (HP:0000716)3.42082581
21Urinary bladder sphincter dysfunction (HP:0002839)3.37189452
22Impaired social interactions (HP:0000735)3.36283488
23Abnormal social behavior (HP:0012433)3.36283488
24Impaired smooth pursuit (HP:0007772)3.33140076
25Dysmetria (HP:0001310)3.33125905
26Papilledema (HP:0001085)3.30003019
27Truncal ataxia (HP:0002078)3.28473238
28Genetic anticipation (HP:0003743)3.27837306
29Postural instability (HP:0002172)3.20120155
30Mutism (HP:0002300)3.11082984
31Cerebral hypomyelination (HP:0006808)3.09250176
32Anxiety (HP:0000739)3.06547489
33Hyperventilation (HP:0002883)3.06442954
34Abnormality of the lower motor neuron (HP:0002366)2.98593514
35Scanning speech (HP:0002168)2.96810849
36Abnormal eating behavior (HP:0100738)2.93617180
37Abnormality of ocular smooth pursuit (HP:0000617)2.92925739
38Amblyopia (HP:0000646)2.91068771
39Akinesia (HP:0002304)2.89994351
40Hemiplegia (HP:0002301)2.88720461
41Intention tremor (HP:0002080)2.83633637
42Dysmetric saccades (HP:0000641)2.82982253
43Urinary urgency (HP:0000012)2.75677890
44Sleep apnea (HP:0010535)2.75304147
45Hemiparesis (HP:0001269)2.73344775
46Abnormality of binocular vision (HP:0011514)2.70413107
47Diplopia (HP:0000651)2.70413107
48Spastic gait (HP:0002064)2.69774233
49Torticollis (HP:0000473)2.69148434
50Stereotypic behavior (HP:0000733)2.68733839
51Drooling (HP:0002307)2.64221741
52Excessive salivation (HP:0003781)2.64221741
53Bradykinesia (HP:0002067)2.56724118
54Focal dystonia (HP:0004373)2.55947961
55Epileptiform EEG discharges (HP:0011182)2.50545548
56Impaired vibratory sensation (HP:0002495)2.49100997
57Ventricular fibrillation (HP:0001663)2.48660739
58Annular pancreas (HP:0001734)2.44026711
59Status epilepticus (HP:0002133)2.39521012
60Fetal akinesia sequence (HP:0001989)2.38648859
61EEG with generalized epileptiform discharges (HP:0011198)2.37810836
62Absent speech (HP:0001344)2.32177289
63Pointed chin (HP:0000307)2.30181444
64Progressive inability to walk (HP:0002505)2.29455952
65Megalencephaly (HP:0001355)2.27232971
66Peripheral hypomyelination (HP:0007182)2.27224607
67Hypsarrhythmia (HP:0002521)2.24498738
68Spastic tetraparesis (HP:0001285)2.21106696
69Craniofacial dystonia (HP:0012179)2.19436572
70Agitation (HP:0000713)2.16625014
71Delusions (HP:0000746)2.15605454
72Insomnia (HP:0100785)2.14733686
73Abnormality of the corticospinal tract (HP:0002492)2.13532590
74Neurofibrillary tangles (HP:0002185)2.12544901
75Lower limb muscle weakness (HP:0007340)2.12326211
76Cerebral inclusion bodies (HP:0100314)2.11918099
77Morphological abnormality of the pyramidal tract (HP:0002062)2.11335237
78Obstructive sleep apnea (HP:0002870)2.10443856
79Insidious onset (HP:0003587)2.09415091
80Termporal pattern (HP:0011008)2.09415091
81Gait ataxia (HP:0002066)2.08003223
82Abnormality of saccadic eye movements (HP:0000570)2.07204314
83Generalized myoclonic seizures (HP:0002123)2.07013825
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.05311688
85Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.05311688
86Incomplete penetrance (HP:0003829)2.04616852
87Choreoathetosis (HP:0001266)2.04063579
88Inability to walk (HP:0002540)2.02415201
89Pheochromocytoma (HP:0002666)1.98891208
90Inappropriate behavior (HP:0000719)1.98624902
91Bundle branch block (HP:0011710)1.97933236
92Limb dystonia (HP:0002451)1.96977382
93CNS hypomyelination (HP:0003429)1.95886082
94Clonus (HP:0002169)1.95611718
95Diminished motivation (HP:0000745)1.91278581
96Lower limb amyotrophy (HP:0007210)1.90244415
97Amyotrophic lateral sclerosis (HP:0007354)1.90142248
98Blue irides (HP:0000635)1.87222835
99Polyphagia (HP:0002591)1.86840460
100Neuronal loss in central nervous system (HP:0002529)1.85795752
101Rigidity (HP:0002063)1.84002290
102Lower limb asymmetry (HP:0100559)1.83271812
103Abnormal EKG (HP:0003115)1.83175894
104Rapidly progressive (HP:0003678)1.82878396
105Psychosis (HP:0000709)1.80121957
106Protruding tongue (HP:0010808)1.78856855
107Limb ataxia (HP:0002070)1.78851949
108Spastic tetraplegia (HP:0002510)1.78299361
109Abnormality of the periventricular white matter (HP:0002518)1.76196247
110Abnormality of salivation (HP:0100755)1.74842916
111Bronchomalacia (HP:0002780)1.74008245
112Ankyloglossia (HP:0010296)1.73912377
113Prolonged QT interval (HP:0001657)1.71955343
114Tetraplegia (HP:0002445)1.71611381
115Spinal canal stenosis (HP:0003416)1.71193665
116Apathy (HP:0000741)1.69972287
117Turricephaly (HP:0000262)1.68000723
118Increased circulating renin level (HP:0000848)1.64036089
119Hypoplasia of the corpus callosum (HP:0002079)1.63851343

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.65248082
2EPHA44.39549486
3MAP3K94.09675759
4DAPK22.97272982
5MARK12.92127847
6MAP3K42.85914991
7MINK12.70322444
8PAK62.50489231
9MAP2K72.36616235
10PRKD32.30405083
11NTRK22.28373828
12CAMKK12.17388840
13RIPK42.00832073
14KSR21.96603599
15NTRK11.96507583
16DAPK11.88174879
17MAP2K41.79947488
18MAP3K121.77551990
19CDK51.62147798
20SIK21.60960472
21CDK191.57020106
22TNIK1.55510546
23KSR11.54766681
24PRPF4B1.52904281
25STK381.50042104
26CAMKK21.43223202
27CASK1.36771355
28GRK51.33039852
29MAPK131.31119395
30PLK21.26923911
31FES1.23904939
32PRKCG1.23078831
33CAMK11.22984962
34TAOK11.16334662
35UHMK11.14739821
36MAP3K21.12678953
37TYRO31.11639099
38PNCK1.08308765
39MAP3K131.06523081
40ARAF1.03487124
41STK110.99778563
42SGK4940.95801123
43SGK2230.95801123
44CAMK2A0.94053456
45CDK180.93203720
46RIPK10.92816427
47CDK150.91976689
48CAMK1D0.91184613
49SGK20.89637419
50PRKCH0.88898715
51ALK0.86802892
52CDK140.83678024
53SGK30.81144478
54CDK11A0.80574081
55RET0.80450206
56LATS20.78368161
57RAF10.76255928
58PHKG10.75437829
59PHKG20.75437829
60CAMK2B0.75408773
61PKN10.74115907
62PTK2B0.73657445
63FGFR20.73409700
64MARK20.72984992
65PDK10.72711768
66PAK30.71774848
67PINK10.67995198
68BMPR20.66733187
69CAMK1G0.65694724
70OXSR10.65215409
71CAMK40.64793224
72TNK20.63549563
73DYRK1A0.62603322
74* SGK10.61825305
75PDPK10.59605751
76MAP3K70.57263794
77CSNK1G20.56532278
78CCNB10.56213604
79BRAF0.52815006
80SCYL20.52462044
81MAP3K10.51962196
82LMTK20.51753688
83* RPS6KA30.51643454
84SIK30.51489990
85CDC42BPA0.49626649
86FYN0.49443276
87PRKCZ0.48569135
88NEK60.48192043
89BRSK10.48137390
90WNK10.45873522
91MAPK100.43736626
92DAPK30.42962353
93ERBB20.39661546
94CAMK2G0.38681668
95MAP3K110.37906682
96LIMK10.36881240
97CAMK2D0.36589348
98ICK0.36228070
99NEK10.36130091
100PRKCE0.35013194
101ROCK20.34043566
102DMPK0.33529015
103PRKG10.33210744
104DYRK20.32729130
105CSNK1D0.32637664
106MAP3K60.32608649
107* MAPK80.31812487
108* GSK3B0.31689213
109PRKAA10.31329699
110MAP2K10.30115617
111RPS6KA20.29627898
112* PRKCB0.29551348
113PRKACA0.29297220
114WNK30.28903690
115MAPK120.28835132
116PRKCA0.28381555
117* CSNK1E0.27541295

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.76167677
2Synaptic vesicle cycle_Homo sapiens_hsa047213.31104594
3Circadian entrainment_Homo sapiens_hsa047132.82288637
4Olfactory transduction_Homo sapiens_hsa047402.79861362
5Long-term potentiation_Homo sapiens_hsa047202.76416366
6Glutamatergic synapse_Homo sapiens_hsa047242.74743789
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.68713340
8GABAergic synapse_Homo sapiens_hsa047272.65415752
9Morphine addiction_Homo sapiens_hsa050322.51556653
10Amphetamine addiction_Homo sapiens_hsa050312.47437250
11Salivary secretion_Homo sapiens_hsa049702.28953629
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.24127814
13Dopaminergic synapse_Homo sapiens_hsa047282.14068424
14Insulin secretion_Homo sapiens_hsa049112.11946613
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.99957642
16Cholinergic synapse_Homo sapiens_hsa047251.98391223
17Gastric acid secretion_Homo sapiens_hsa049711.97219474
18Long-term depression_Homo sapiens_hsa047301.71994951
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71648758
20Taste transduction_Homo sapiens_hsa047421.70973554
21Oxytocin signaling pathway_Homo sapiens_hsa049211.69429362
22Calcium signaling pathway_Homo sapiens_hsa040201.65210827
23Cocaine addiction_Homo sapiens_hsa050301.61249217
24Renin secretion_Homo sapiens_hsa049241.60033109
25Serotonergic synapse_Homo sapiens_hsa047261.58473080
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49162665
27GnRH signaling pathway_Homo sapiens_hsa049121.47780326
28Type II diabetes mellitus_Homo sapiens_hsa049301.38444779
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35595175
30cAMP signaling pathway_Homo sapiens_hsa040241.31995967
31Gap junction_Homo sapiens_hsa045401.31988491
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29063527
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.28290466
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.24496595
35Glioma_Homo sapiens_hsa052141.20825404
36Estrogen signaling pathway_Homo sapiens_hsa049151.18696649
37Vitamin B6 metabolism_Homo sapiens_hsa007501.16468495
38Nitrogen metabolism_Homo sapiens_hsa009101.11788153
39Collecting duct acid secretion_Homo sapiens_hsa049661.11234448
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.09684759
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07618189
42ErbB signaling pathway_Homo sapiens_hsa040121.05845650
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03751508
44Axon guidance_Homo sapiens_hsa043601.03089085
45Melanogenesis_Homo sapiens_hsa049161.01110177
46Pancreatic secretion_Homo sapiens_hsa049720.94890076
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.94073038
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.93477832
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.90896473
50Oocyte meiosis_Homo sapiens_hsa041140.85962440
51Thyroid hormone synthesis_Homo sapiens_hsa049180.83964481
52Phototransduction_Homo sapiens_hsa047440.82456725
53Cardiac muscle contraction_Homo sapiens_hsa042600.81658171
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80602868
55Dorso-ventral axis formation_Homo sapiens_hsa043200.80440943
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77198827
57Choline metabolism in cancer_Homo sapiens_hsa052310.75718813
58MAPK signaling pathway_Homo sapiens_hsa040100.73681067
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72479582
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71386693
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.71341441
62Dilated cardiomyopathy_Homo sapiens_hsa054140.71005520
63Vibrio cholerae infection_Homo sapiens_hsa051100.67771853
64Fatty acid biosynthesis_Homo sapiens_hsa000610.67332740
65VEGF signaling pathway_Homo sapiens_hsa043700.66981942
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60714949
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60134784
68mTOR signaling pathway_Homo sapiens_hsa041500.59739448
69Rap1 signaling pathway_Homo sapiens_hsa040150.57812526
70Ras signaling pathway_Homo sapiens_hsa040140.56883730
71Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56580420
72Inositol phosphate metabolism_Homo sapiens_hsa005620.56398268
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.53837761
74Glucagon signaling pathway_Homo sapiens_hsa049220.53237900
75Alcoholism_Homo sapiens_hsa050340.52669541
76Endocytosis_Homo sapiens_hsa041440.52218584
77Bile secretion_Homo sapiens_hsa049760.51010186
78Non-small cell lung cancer_Homo sapiens_hsa052230.49955225
79Circadian rhythm_Homo sapiens_hsa047100.49010357
80Type I diabetes mellitus_Homo sapiens_hsa049400.47632187
81Endometrial cancer_Homo sapiens_hsa052130.46907317
82Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46645143
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45398710
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42811289
85African trypanosomiasis_Homo sapiens_hsa051430.42363230
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41248675
87Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40291154
88Chemokine signaling pathway_Homo sapiens_hsa040620.39874109
89Wnt signaling pathway_Homo sapiens_hsa043100.39033828
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38607884
91Arginine biosynthesis_Homo sapiens_hsa002200.37365330
92Insulin signaling pathway_Homo sapiens_hsa049100.37314574
93Renal cell carcinoma_Homo sapiens_hsa052110.36584139
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35931755
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34791659
96Ovarian steroidogenesis_Homo sapiens_hsa049130.33994876
97Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33384093
98Arginine and proline metabolism_Homo sapiens_hsa003300.32904493
99AMPK signaling pathway_Homo sapiens_hsa041520.31609224
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.31220419
101Mineral absorption_Homo sapiens_hsa049780.29242552
102Prion diseases_Homo sapiens_hsa050200.28515431
103Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28041791
104Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.27773599
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27608840
106Platelet activation_Homo sapiens_hsa046110.27444011
107Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27166773
108Alzheimers disease_Homo sapiens_hsa050100.26064485
109Hippo signaling pathway_Homo sapiens_hsa043900.23413955
110Tight junction_Homo sapiens_hsa045300.22891855
111beta-Alanine metabolism_Homo sapiens_hsa004100.18818411
112Histidine metabolism_Homo sapiens_hsa003400.18786953
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.18061521

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