STX1B

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.78957683
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.51143327
3locomotory exploration behavior (GO:0035641)6.45545754
4vocalization behavior (GO:0071625)5.75719622
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.75622788
6* positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.57075035
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.52462101
8glutamate secretion (GO:0014047)5.46420871
9synaptic vesicle exocytosis (GO:0016079)5.42324214
10regulation of glutamate receptor signaling pathway (GO:1900449)5.15398823
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.91826791
12* regulation of synaptic vesicle exocytosis (GO:2000300)4.89563409
13neurotransmitter secretion (GO:0007269)4.86900283
14neuronal action potential propagation (GO:0019227)4.75805382
15exploration behavior (GO:0035640)4.72927312
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.65194609
17regulation of neuronal synaptic plasticity (GO:0048168)4.64983302
18gamma-aminobutyric acid transport (GO:0015812)4.56868028
19protein localization to synapse (GO:0035418)4.56366423
20* synaptic vesicle docking involved in exocytosis (GO:0016081)4.46224726
21regulation of synapse structural plasticity (GO:0051823)4.44036672
22amino acid import (GO:0043090)4.40461464
23cellular potassium ion homeostasis (GO:0030007)4.38616306
24layer formation in cerebral cortex (GO:0021819)4.38339671
25synaptic transmission, glutamatergic (GO:0035249)4.38260445
26* regulation of synaptic vesicle transport (GO:1902803)4.38136982
27dendritic spine morphogenesis (GO:0060997)4.26099263
28glutamate receptor signaling pathway (GO:0007215)4.22249554
29sodium ion export (GO:0071436)4.20625802
30neurotransmitter-gated ion channel clustering (GO:0072578)4.18668029
31proline transport (GO:0015824)4.15412294
32axon ensheathment in central nervous system (GO:0032291)4.13574933
33central nervous system myelination (GO:0022010)4.13574933
34glycine transport (GO:0015816)4.12852101
35long-term memory (GO:0007616)4.12113133
36regulation of synapse maturation (GO:0090128)4.08430086
37membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.04966631
38neuron-neuron synaptic transmission (GO:0007270)4.04558027
39neuron cell-cell adhesion (GO:0007158)4.02806697
40regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.01311009
41neurotransmitter transport (GO:0006836)3.89426544
42cellular sodium ion homeostasis (GO:0006883)3.88394470
43cerebellar Purkinje cell differentiation (GO:0021702)3.78987833
44neuromuscular process controlling balance (GO:0050885)3.78729045
45neuromuscular process controlling posture (GO:0050884)3.76453467
46negative regulation of dendrite morphogenesis (GO:0050774)3.75256548
47positive regulation of dendritic spine morphogenesis (GO:0061003)3.72508477
48activation of protein kinase A activity (GO:0034199)3.68404751
49cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.66133945
50regulation of synaptic plasticity (GO:0048167)3.65265886
51* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.64508710
52regulation of neurotransmitter levels (GO:0001505)3.63839755
53* positive regulation of membrane potential (GO:0045838)3.58851715
54synaptic vesicle endocytosis (GO:0048488)3.57764230
55positive regulation of synaptic transmission, GABAergic (GO:0032230)3.54481116
56auditory behavior (GO:0031223)3.54007380
57regulation of dendritic spine morphogenesis (GO:0061001)3.53288810
58positive regulation of synapse maturation (GO:0090129)3.53108988
59transmission of nerve impulse (GO:0019226)3.50589152
60cell communication by electrical coupling (GO:0010644)3.47410355
61* regulation of postsynaptic membrane potential (GO:0060078)3.46519505
62L-amino acid import (GO:0043092)3.46277367
63response to auditory stimulus (GO:0010996)3.45389712
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.44564458
65positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.43393052
66prepulse inhibition (GO:0060134)3.42906021
67regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.42484181
68* regulation of neurotransmitter secretion (GO:0046928)3.42408514
69neurotransmitter uptake (GO:0001504)3.41549400
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.37325449
71acidic amino acid transport (GO:0015800)3.33868169
72neuronal ion channel clustering (GO:0045161)3.33358355
73regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.33295800
74neuromuscular synaptic transmission (GO:0007274)3.32161297
75long-term synaptic potentiation (GO:0060291)3.32107737
76negative regulation of synaptic transmission, GABAergic (GO:0032229)3.31072413
77G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.29821117
78gamma-aminobutyric acid signaling pathway (GO:0007214)3.27613298
79cell differentiation in hindbrain (GO:0021533)3.27274388
80membrane depolarization during action potential (GO:0086010)3.26961825
81regulation of ARF protein signal transduction (GO:0032012)3.26481041
82dendrite morphogenesis (GO:0048813)3.26261410
83membrane hyperpolarization (GO:0060081)3.24639382
84vesicle transport along microtubule (GO:0047496)3.23387213
85* regulation of neurotransmitter transport (GO:0051588)3.22602667
86establishment of synaptic vesicle localization (GO:0097480)3.21567871
87synaptic vesicle transport (GO:0048489)3.21567871
88potassium ion import (GO:0010107)3.20883340
89cerebellar granule cell differentiation (GO:0021707)3.20246366
90dendritic spine organization (GO:0097061)3.20041268
91regulation of vesicle fusion (GO:0031338)3.19788956
92response to pheromone (GO:0019236)3.17694329
93positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.16232961
94postsynaptic membrane organization (GO:0001941)3.15686390
95cytoskeletal anchoring at plasma membrane (GO:0007016)3.15619492
96presynaptic membrane organization (GO:0097090)3.14559922
97negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.14142667
98cell communication involved in cardiac conduction (GO:0086065)3.12957657
99neuron recognition (GO:0008038)3.12428446
100neuromuscular process (GO:0050905)3.12080612
101cerebellar Purkinje cell layer development (GO:0021680)3.11449298
102* membrane depolarization (GO:0051899)3.09856987
103learning (GO:0007612)3.07176370
104presynaptic membrane assembly (GO:0097105)3.04284859
105* regulation of synaptic transmission (GO:0050804)3.03404329
106signal release (GO:0023061)3.03259409
107long term synaptic depression (GO:0060292)3.03039413
108positive regulation of dendrite development (GO:1900006)3.02718233
109adult walking behavior (GO:0007628)3.00871476
110potassium ion homeostasis (GO:0055075)3.00531882
111intraspecies interaction between organisms (GO:0051703)3.00484025
112social behavior (GO:0035176)3.00484025
113regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.99853309
114synaptic transmission (GO:0007268)2.99274773
115positive regulation of dendritic spine development (GO:0060999)2.99204991
116regulation of voltage-gated calcium channel activity (GO:1901385)2.98870204
117regulation of dendritic spine development (GO:0060998)2.95844289
118axonal fasciculation (GO:0007413)2.95167654
119G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.95006666
120chemosensory behavior (GO:0007635)2.94977217

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.04703956
2GBX2_23144817_ChIP-Seq_PC3_Human3.09049978
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08250102
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07722909
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04495373
6DROSHA_22980978_ChIP-Seq_HELA_Human2.88479530
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83371041
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83371041
9REST_21632747_ChIP-Seq_MESCs_Mouse2.83293010
10* RARB_27405468_Chip-Seq_BRAIN_Mouse2.73178010
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67224013
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55948567
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.55602419
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53241076
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50689372
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43050734
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.42524467
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33425068
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.32702654
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.32661174
21EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.31263179
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.29270486
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.29222224
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.25121452
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.24044717
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.07136159
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.85741380
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83065125
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81179538
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.76275262
31AR_21572438_ChIP-Seq_LNCaP_Human1.74828849
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56121890
33SMAD4_21799915_ChIP-Seq_A2780_Human1.47541368
34RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44369600
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41956484
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40062576
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.38946756
38KDM2B_26808549_Chip-Seq_K562_Human1.29644256
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.26093736
40AR_19668381_ChIP-Seq_PC3_Human1.24691434
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24467283
42WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24092380
43SOX2_21211035_ChIP-Seq_LN229_Gbm1.23672750
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.23096739
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22384299
46CTBP1_25329375_ChIP-Seq_LNCAP_Human1.20641997
47EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19972789
48ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19410365
49* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18434462
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.16783187
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.16707169
52ZNF274_21170338_ChIP-Seq_K562_Hela1.16600861
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15670688
54STAT3_23295773_ChIP-Seq_U87_Human1.14956812
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.13679568
56RING1B_27294783_Chip-Seq_NPCs_Mouse1.13405548
57OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.12692352
58AR_25329375_ChIP-Seq_VCAP_Human1.12586245
59WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12019661
60GATA1_26923725_Chip-Seq_HPCs_Mouse1.11911197
61TAF15_26573619_Chip-Seq_HEK293_Human1.11051028
62GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10969853
63P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09636981
64RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09462388
65P300_19829295_ChIP-Seq_ESCs_Human1.06620990
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02858308
67LXR_22292898_ChIP-Seq_THP-1_Human1.02086764
68CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01860658
69KDM2B_26808549_Chip-Seq_SUP-B15_Human1.01376046
70TCF4_23295773_ChIP-Seq_U87_Human1.00094849
71YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99972757
72ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99790148
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99013024
74MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98702021
75CBX2_27304074_Chip-Seq_ESCs_Mouse0.98629149
76ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.98524954
77GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97558178
78OCT4_19829295_ChIP-Seq_ESCs_Human0.97546333
79ZFP57_27257070_Chip-Seq_ESCs_Mouse0.96266741
80SMAD4_21741376_ChIP-Seq_HESCs_Human0.96122515
81DPY_21335234_ChIP-Seq_ESCs_Mouse0.94913356
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94819282
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94742515
84SMAD3_21741376_ChIP-Seq_ESCs_Human0.94334230
85SMAD3_21741376_ChIP-Seq_HESCs_Human0.93753931
86ESR2_21235772_ChIP-Seq_MCF-7_Human0.93492308
87TET1_21490601_ChIP-Seq_MESCs_Mouse0.93182731
88ARNT_22903824_ChIP-Seq_MCF-7_Human0.92640700
89* RXR_22108803_ChIP-Seq_LS180_Human0.92569591
90OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92529151
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92081310
92THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90932442
93ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.90274969
94TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89991430
95SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89820644
96NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89664480
97SMC4_20622854_ChIP-Seq_HELA_Human0.89392197
98PIAS1_25552417_ChIP-Seq_VCAP_Human0.88858616
99SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88507874
100PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88327621
101AHR_22903824_ChIP-Seq_MCF-7_Human0.88186399
102TP53_16413492_ChIP-PET_HCT116_Human0.86876871
103RNF2_27304074_Chip-Seq_NSC_Mouse0.86791430
104TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85960489
105RUNX2_22187159_ChIP-Seq_PCA_Human0.85617242
106PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.84886533
107* CTCF_27219007_Chip-Seq_Bcells_Human0.84808733
108BMI1_23680149_ChIP-Seq_NPCS_Mouse0.84527889
109SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83170983
110SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82905996
111SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82539739
112AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82385758
113DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.82292036
114SRY_22984422_ChIP-ChIP_TESTIS_Rat0.82230250
115CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81858691
116PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81842586
117KLF4_19829295_ChIP-Seq_ESCs_Human0.81422190
118TP53_20018659_ChIP-ChIP_R1E_Mouse0.81029028
119RUNX1_26923725_Chip-Seq_HPCs_Mouse0.78643111
120EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.77302623
121SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.76938650
122SMAD4_21741376_ChIP-Seq_ESCs_Human0.76078833
123TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75164211
124CREB1_26743006_Chip-Seq_LNCaP_Human0.74931162
125EGR1_19032775_ChIP-ChIP_M12_Human0.74562312
126MYC_19915707_ChIP-ChIP_AK7_Human0.72406978
127TP53_23651856_ChIP-Seq_MEFs_Mouse0.70726520
128TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.67349168

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.09013345
2MP0003880_abnormal_central_pattern4.57646925
3* MP0003635_abnormal_synaptic_transmissio4.30990195
4MP0004270_analgesia3.68395861
5MP0009745_abnormal_behavioral_response3.53138849
6MP0009046_muscle_twitch3.51031856
7MP0005423_abnormal_somatic_nervous3.35451982
8MP0002063_abnormal_learning/memory/cond3.35112029
9* MP0002064_seizures3.24094017
10MP0001968_abnormal_touch/_nociception2.96624519
11MP0002822_catalepsy2.88414846
12MP0002572_abnormal_emotion/affect_behav2.82304588
13MP0001486_abnormal_startle_reflex2.79188223
14MP0002272_abnormal_nervous_system2.72321683
15MP0002734_abnormal_mechanical_nocicepti2.68611255
16MP0001501_abnormal_sleep_pattern2.37519639
17MP0008569_lethality_at_weaning2.23301436
18MP0002736_abnormal_nociception_after2.14020310
19MP0001440_abnormal_grooming_behavior2.12020614
20MP0002735_abnormal_chemical_nociception2.07606570
21MP0002733_abnormal_thermal_nociception1.99348139
22MP0002067_abnormal_sensory_capabilities1.98347821
23MP0001970_abnormal_pain_threshold1.97284698
24MP0009780_abnormal_chondrocyte_physiolo1.96019899
25MP0003879_abnormal_hair_cell1.91924533
26MP0004858_abnormal_nervous_system1.87450537
27MP0002557_abnormal_social/conspecific_i1.82664500
28MP0002184_abnormal_innervation1.80936338
29* MP0004811_abnormal_neuron_physiology1.80742843
30MP0005646_abnormal_pituitary_gland1.78010226
31MP0004924_abnormal_behavior1.77012162
32MP0005386_behavior/neurological_phenoty1.77012162
33MP0002909_abnormal_adrenal_gland1.75109497
34MP0004885_abnormal_endolymph1.74693556
35MP0003329_amyloid_beta_deposits1.72017067
36MP0005645_abnormal_hypothalamus_physiol1.61936631
37MP0000778_abnormal_nervous_system1.59200222
38MP0000955_abnormal_spinal_cord1.59191176
39MP0003633_abnormal_nervous_system1.48233500
40* MP0002066_abnormal_motor_capabilities/c1.45097592
41MP0003123_paternal_imprinting1.42073235
42MP0003787_abnormal_imprinting1.41492872
43MP0006276_abnormal_autonomic_nervous1.39388176
44MP0002882_abnormal_neuron_morphology1.39024887
45MP0001984_abnormal_olfaction1.35896409
46MP0004142_abnormal_muscle_tone1.31078825
47MP0001502_abnormal_circadian_rhythm1.27475858
48MP0003631_nervous_system_phenotype1.22963684
49MP0000569_abnormal_digit_pigmentation1.16912518
50MP0003690_abnormal_glial_cell1.14123972
51MP0008872_abnormal_physiological_respon1.09401351
52MP0004147_increased_porphyrin_level1.08705061
53MP0002152_abnormal_brain_morphology1.07551008
54MP0003075_altered_response_to1.07281698
55MP0001348_abnormal_lacrimal_gland1.07032354
56MP0004742_abnormal_vestibular_system1.06613605
57MP0008874_decreased_physiological_sensi1.01526690
58MP0001177_atelectasis1.01495339
59MP0002229_neurodegeneration0.99463099
60MP0008961_abnormal_basal_metabolism0.98090400
61MP0003122_maternal_imprinting0.97298603
62MP0004145_abnormal_muscle_electrophysio0.96621218
63MP0002069_abnormal_eating/drinking_beha0.95590293
64MP0005167_abnormal_blood-brain_barrier0.95461458
65MP0000920_abnormal_myelination0.95242070
66MP0001529_abnormal_vocalization0.95138085
67MP0001905_abnormal_dopamine_level0.94593401
68MP0003283_abnormal_digestive_organ0.94457885
69MP0001986_abnormal_taste_sensitivity0.90282639
70MP0003632_abnormal_nervous_system0.89612275
71MP0001485_abnormal_pinna_reflex0.88262088
72MP0003634_abnormal_glial_cell0.85591016
73MP0008877_abnormal_DNA_methylation0.83688679
74MP0000751_myopathy0.83275989
75MP0005551_abnormal_eye_electrophysiolog0.82389213
76MP0001346_abnormal_lacrimal_gland0.81039263
77MP0004085_abnormal_heartbeat0.80530078
78MP0001963_abnormal_hearing_physiology0.79595630
79MP0005535_abnormal_body_temperature0.77209200
80MP0000013_abnormal_adipose_tissue0.74836268
81MP0000604_amyloidosis0.72516973
82MP0003172_abnormal_lysosome_physiology0.70164469
83MP0005499_abnormal_olfactory_system0.69595894
84MP0005394_taste/olfaction_phenotype0.69595894
85MP0001188_hyperpigmentation0.69323379
86MP0002752_abnormal_somatic_nervous0.66537034
87MP0004043_abnormal_pH_regulation0.66225774
88MP0003121_genomic_imprinting0.65416956
89MP0002090_abnormal_vision0.64404932
90MP0010386_abnormal_urinary_bladder0.64022352
91MP0004233_abnormal_muscle_weight0.63106589
92MP0004130_abnormal_muscle_cell0.62353435
93MP0000631_abnormal_neuroendocrine_gland0.61849684
94MP0003137_abnormal_impulse_conducting0.61781401
95MP0001664_abnormal_digestion0.59951292
96MP0001299_abnormal_eye_distance/0.59791829
97MP0002638_abnormal_pupillary_reflex0.59580414
98MP0004510_myositis0.59347125
99MP0005623_abnormal_meninges_morphology0.57285100
100MP0004484_altered_response_of0.56529546
101MP0004215_abnormal_myocardial_fiber0.56319922
102MP0003646_muscle_fatigue0.54602701
103* MP0010769_abnormal_survival0.54207397
104MP0000579_abnormal_nail_morphology0.54077309
105MP0002089_abnormal_postnatal_growth/wei0.53845695
106MP0001943_abnormal_respiration0.53324815
107MP0008004_abnormal_stomach_pH0.52165871
108MP0003956_abnormal_body_size0.50806082
109MP0003861_abnormal_nervous_system0.50632974
110* MP0010768_mortality/aging0.50561338
111* MP0002082_postnatal_lethality0.49866959
112* MP0010770_preweaning_lethality0.49866959
113MP0000026_abnormal_inner_ear0.46249758
114MP0002873_normal_phenotype0.44164851
115MP0005409_darkened_coat_color0.43950448
116MP0002169_no_abnormal_phenotype0.42639531

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.50467165
2Focal motor seizures (HP:0011153)7.49897687
3Focal seizures (HP:0007359)5.80063358
4Visual hallucinations (HP:0002367)5.57471777
5Action tremor (HP:0002345)4.84299926
6Progressive cerebellar ataxia (HP:0002073)4.83180427
7Epileptic encephalopathy (HP:0200134)4.54285508
8Febrile seizures (HP:0002373)4.43177121
9Atonic seizures (HP:0010819)4.25710539
10Absence seizures (HP:0002121)3.93455441
11Supranuclear gaze palsy (HP:0000605)3.85865227
12Ankle clonus (HP:0011448)3.85781441
13Generalized tonic-clonic seizures (HP:0002069)3.85488097
14Cerebral hypomyelination (HP:0006808)3.73334174
15Gaze-evoked nystagmus (HP:0000640)3.68692511
16Poor eye contact (HP:0000817)3.63931069
17Dialeptic seizures (HP:0011146)3.54614378
18Broad-based gait (HP:0002136)3.51510137
19Dysdiadochokinesis (HP:0002075)3.49971890
20Impaired vibration sensation in the lower limbs (HP:0002166)3.49810737
21Depression (HP:0000716)3.47449771
22Postural instability (HP:0002172)3.38474125
23Mutism (HP:0002300)3.38064375
24Urinary bladder sphincter dysfunction (HP:0002839)3.31127701
25Papilledema (HP:0001085)3.30698791
26Dysmetria (HP:0001310)3.29607072
27Abnormal social behavior (HP:0012433)3.29238440
28Impaired social interactions (HP:0000735)3.29238440
29Genetic anticipation (HP:0003743)3.15909537
30Abnormal eating behavior (HP:0100738)3.13816389
31Anxiety (HP:0000739)3.13321391
32Hemiplegia (HP:0002301)3.12487443
33Truncal ataxia (HP:0002078)3.09833283
34Abnormality of the lower motor neuron (HP:0002366)3.03908287
35Intention tremor (HP:0002080)3.03871121
36Delusions (HP:0000746)2.99689608
37Impaired smooth pursuit (HP:0007772)2.99137775
38Torticollis (HP:0000473)2.93855583
39Akinesia (HP:0002304)2.93087703
40Scanning speech (HP:0002168)2.88296283
41Ventricular fibrillation (HP:0001663)2.87328926
42Urinary urgency (HP:0000012)2.83564955
43Dysmetric saccades (HP:0000641)2.76506763
44Diplopia (HP:0000651)2.71456007
45Abnormality of binocular vision (HP:0011514)2.71456007
46Spastic gait (HP:0002064)2.70450533
47Focal dystonia (HP:0004373)2.69953010
48Sleep apnea (HP:0010535)2.69937274
49Hemiparesis (HP:0001269)2.68882166
50Abnormality of ocular smooth pursuit (HP:0000617)2.68702963
51Annular pancreas (HP:0001734)2.68499845
52Bradykinesia (HP:0002067)2.54797570
53Stereotypic behavior (HP:0000733)2.54028890
54Apathy (HP:0000741)2.53431452
55Hyperventilation (HP:0002883)2.50094206
56Progressive inability to walk (HP:0002505)2.49324576
57Status epilepticus (HP:0002133)2.48126806
58Amblyopia (HP:0000646)2.43545163
59Pointed chin (HP:0000307)2.41687751
60Fetal akinesia sequence (HP:0001989)2.41422498
61Megalencephaly (HP:0001355)2.40747524
62Peripheral hypomyelination (HP:0007182)2.39336314
63Drooling (HP:0002307)2.38002098
64Excessive salivation (HP:0003781)2.38002098
65Craniofacial dystonia (HP:0012179)2.37815345
66Impaired vibratory sensation (HP:0002495)2.36726713
67Insomnia (HP:0100785)2.36682007
68CNS hypomyelination (HP:0003429)2.32605674
69Bundle branch block (HP:0011710)2.32538227
70Choreoathetosis (HP:0001266)2.27900894
71Diminished motivation (HP:0000745)2.25989604
72Lower limb muscle weakness (HP:0007340)2.21967459
73Abnormality of saccadic eye movements (HP:0000570)2.20101360
74Neurofibrillary tangles (HP:0002185)2.19392650
75Morphological abnormality of the pyramidal tract (HP:0002062)2.18948717
76Abnormality of the corticospinal tract (HP:0002492)2.18001301
77Clonus (HP:0002169)2.13990891
78Obstructive sleep apnea (HP:0002870)2.13709091
79Rapidly progressive (HP:0003678)2.11623067
80Absent speech (HP:0001344)2.09845064
81Epileptiform EEG discharges (HP:0011182)2.08502819
82Agitation (HP:0000713)2.08062783
83EEG with generalized epileptiform discharges (HP:0011198)2.04705101
84Incomplete penetrance (HP:0003829)2.04699453
85Tetraplegia (HP:0002445)2.04119974
86Insidious onset (HP:0003587)2.03386146
87Termporal pattern (HP:0011008)2.03386146
88Gait ataxia (HP:0002066)2.00188025
89Degeneration of the lateral corticospinal tracts (HP:0002314)2.00185636
90Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.00185636
91Cerebral inclusion bodies (HP:0100314)1.99913305
92Generalized myoclonic seizures (HP:0002123)1.99654313
93Hypsarrhythmia (HP:0002521)1.98810457
94Limb dystonia (HP:0002451)1.97538647
95Abnormal EKG (HP:0003115)1.97410720
96Neuronal loss in central nervous system (HP:0002529)1.96463823
97Aplasia involving bones of the extremities (HP:0009825)1.91060413
98Aplasia involving bones of the upper limbs (HP:0009823)1.91060413
99Memory impairment (HP:0002354)1.90270004
100Pheochromocytoma (HP:0002666)1.90113455
101Spinal canal stenosis (HP:0003416)1.89322300
102Lower limb amyotrophy (HP:0007210)1.86747384
103Rigidity (HP:0002063)1.86679069
104Amyotrophic lateral sclerosis (HP:0007354)1.85817922
105Resting tremor (HP:0002322)1.82326775
106Inability to walk (HP:0002540)1.81871681
107Postural tremor (HP:0002174)1.81690600
108Inappropriate behavior (HP:0000719)1.80967692
109Polyphagia (HP:0002591)1.80593210
110Increased circulating renin level (HP:0000848)1.80571588
111Ankyloglossia (HP:0010296)1.79335687
112Lower limb asymmetry (HP:0100559)1.79309329
113Unsteady gait (HP:0002317)1.77667675
114Heart block (HP:0012722)1.74110954
115Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.73954176
116Blue irides (HP:0000635)1.73766846
117Spastic tetraparesis (HP:0001285)1.72688719
118Psychosis (HP:0000709)1.71501220
119Aplasia of the phalanges of the hand (HP:0009802)1.70048669

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.39103928
2EPHA44.13057310
3MAP3K93.96904730
4MARK12.93817618
5MAP3K42.90993131
6MINK12.74804901
7DAPK22.68960957
8PAK62.51748938
9PRKD32.38871922
10MAP2K72.37991153
11CAMKK12.28529710
12NTRK22.22553595
13KSR21.99880226
14MAP2K41.94483412
15SIK21.91193100
16STK381.91069494
17MAP3K121.80603815
18NTRK11.78317413
19RIPK41.62727562
20CDK51.56951021
21TNIK1.52945728
22CDK191.49892618
23PRPF4B1.47737325
24DAPK11.41633807
25KSR11.40071843
26CAMKK21.38849160
27GRK51.28359680
28MAPK131.24368271
29TYRO31.22674946
30TAOK11.22327652
31PRKCG1.21337328
32PLK21.18540625
33FES1.18509992
34CAMK11.16345457
35LATS21.15721425
36MAP3K131.15350027
37UHMK11.14785863
38ALK1.12783845
39MAP3K21.10828726
40SIK31.10381196
41PRKCH1.07582205
42PINK11.05057822
43SGK4941.04206218
44SGK2231.04206218
45STK111.02698075
46ARAF1.01321599
47PHKG10.99959372
48PHKG20.99959372
49SGK20.93671511
50RIPK10.93649027
51SGK30.92750897
52LMTK20.91915798
53WNK10.90149685
54CDK180.90096015
55CDK150.90090673
56CASK0.88701117
57MARK20.85990893
58RET0.85574469
59CDK140.81732882
60CAMK2A0.80902791
61TNK20.80075509
62CDK11A0.78682774
63PNCK0.77108127
64PKN10.75454246
65PDK10.72575921
66SGK10.70697659
67OXSR10.67740561
68PAK30.65260517
69PDPK10.64274823
70CAMK40.63232549
71RAF10.62454819
72NEK10.62099754
73DYRK1A0.61248880
74BRSK10.60798865
75CDC42BPA0.60173621
76CAMK2B0.58787178
77MAP3K10.57955443
78FGFR20.57453365
79LIMK10.56454664
80NEK60.56207300
81CSNK1G20.55148713
82MAP3K110.55121061
83CAMK1G0.54347216
84RPS6KA30.54239654
85BRAF0.52357259
86BMPR20.49551711
87PRKCZ0.49188058
88MAP3K70.48452249
89PTK2B0.47893294
90FYN0.47580127
91ROCK20.47497834
92MAPK100.46784372
93CAMK2G0.45654020
94SCYL20.43362185
95ERBB20.37070885
96MAP2K60.36426694
97PRKCE0.33963154
98DAPK30.33474758
99CAMK2D0.31979922
100PRKCB0.30725720
101DMPK0.30604741
102ROCK10.29524259
103FER0.29359715
104PRKG20.28227775
105MAPK80.28081850
106RPS6KA20.27700270
107MAP2K10.27615791
108MAPKAPK50.27021558
109PRKCA0.26152216
110TESK10.25201108
111SRC0.23994843
112MAPK120.23846401
113CSNK1D0.23609754
114PRKG10.23099680
115CCNB10.22916196

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.62818584
2* Synaptic vesicle cycle_Homo sapiens_hsa047213.22625480
3Olfactory transduction_Homo sapiens_hsa047402.82759963
4GABAergic synapse_Homo sapiens_hsa047272.74701242
5Circadian entrainment_Homo sapiens_hsa047132.70477522
6Glutamatergic synapse_Homo sapiens_hsa047242.63393820
7Long-term potentiation_Homo sapiens_hsa047202.58128278
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.56236081
9Morphine addiction_Homo sapiens_hsa050322.49627742
10Amphetamine addiction_Homo sapiens_hsa050312.32534658
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.28753805
12Salivary secretion_Homo sapiens_hsa049702.19879952
13Dopaminergic synapse_Homo sapiens_hsa047282.05959535
14Insulin secretion_Homo sapiens_hsa049112.01738846
15Gastric acid secretion_Homo sapiens_hsa049712.00449775
16Cholinergic synapse_Homo sapiens_hsa047251.91953907
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89844792
18Nitrogen metabolism_Homo sapiens_hsa009101.74959257
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70532014
20Taste transduction_Homo sapiens_hsa047421.68218151
21Long-term depression_Homo sapiens_hsa047301.67732663
22Oxytocin signaling pathway_Homo sapiens_hsa049211.62387349
23Cocaine addiction_Homo sapiens_hsa050301.58794172
24Calcium signaling pathway_Homo sapiens_hsa040201.58380740
25Renin secretion_Homo sapiens_hsa049241.55344413
26Vitamin B6 metabolism_Homo sapiens_hsa007501.53599860
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.48952481
28Serotonergic synapse_Homo sapiens_hsa047261.46325238
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.45718046
30GnRH signaling pathway_Homo sapiens_hsa049121.43911553
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43736055
32Type II diabetes mellitus_Homo sapiens_hsa049301.35351327
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32486787
34cAMP signaling pathway_Homo sapiens_hsa040241.31759277
35Gap junction_Homo sapiens_hsa045401.29948619
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26930649
37Glioma_Homo sapiens_hsa052141.14345260
38Estrogen signaling pathway_Homo sapiens_hsa049151.14086119
39ErbB signaling pathway_Homo sapiens_hsa040121.05541491
40Axon guidance_Homo sapiens_hsa043601.03672842
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00977661
42Collecting duct acid secretion_Homo sapiens_hsa049661.00466353
43cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98754636
44Melanogenesis_Homo sapiens_hsa049160.96616475
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93555405
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91549002
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.91466818
48Pancreatic secretion_Homo sapiens_hsa049720.88756757
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.84754510
50Dorso-ventral axis formation_Homo sapiens_hsa043200.84424395
51Oocyte meiosis_Homo sapiens_hsa041140.84188915
52Thyroid hormone synthesis_Homo sapiens_hsa049180.82560034
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78519804
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76114933
55Cardiac muscle contraction_Homo sapiens_hsa042600.74754809
56Choline metabolism in cancer_Homo sapiens_hsa052310.73121922
57MAPK signaling pathway_Homo sapiens_hsa040100.72192591
58Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72084944
59Dilated cardiomyopathy_Homo sapiens_hsa054140.71972701
60Phototransduction_Homo sapiens_hsa047440.70145843
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.69843063
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69314624
63Bile secretion_Homo sapiens_hsa049760.65819141
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62410358
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60764372
66VEGF signaling pathway_Homo sapiens_hsa043700.59148154
67mTOR signaling pathway_Homo sapiens_hsa041500.58394615
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58205762
69Vibrio cholerae infection_Homo sapiens_hsa051100.58153775
70Rap1 signaling pathway_Homo sapiens_hsa040150.57802490
71Ras signaling pathway_Homo sapiens_hsa040140.57586354
72Endocytosis_Homo sapiens_hsa041440.56742453
73Inositol phosphate metabolism_Homo sapiens_hsa005620.55706029
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.54760221
75Glucagon signaling pathway_Homo sapiens_hsa049220.53746746
76Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50952364
77Type I diabetes mellitus_Homo sapiens_hsa049400.50588111
78Circadian rhythm_Homo sapiens_hsa047100.49296868
79Non-small cell lung cancer_Homo sapiens_hsa052230.48751329
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48596702
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47428647
82Endometrial cancer_Homo sapiens_hsa052130.47007995
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44248058
84Renal cell carcinoma_Homo sapiens_hsa052110.43608768
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43496994
86Alcoholism_Homo sapiens_hsa050340.43205949
87Ovarian steroidogenesis_Homo sapiens_hsa049130.42217424
88Chemokine signaling pathway_Homo sapiens_hsa040620.41139152
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40921573
90Insulin signaling pathway_Homo sapiens_hsa049100.39867684
91Wnt signaling pathway_Homo sapiens_hsa043100.38854298
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38263632
93Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.37162846
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37117031
95Prion diseases_Homo sapiens_hsa050200.37083361
96Arginine and proline metabolism_Homo sapiens_hsa003300.36974762
97Arginine biosynthesis_Homo sapiens_hsa002200.36733497
98Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33913858
99Mineral absorption_Homo sapiens_hsa049780.32731486
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32632034
101African trypanosomiasis_Homo sapiens_hsa051430.30788743
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26637888
103Alzheimers disease_Homo sapiens_hsa050100.25428180
104Fatty acid biosynthesis_Homo sapiens_hsa000610.25189198
105Histidine metabolism_Homo sapiens_hsa003400.24463856
106AMPK signaling pathway_Homo sapiens_hsa041520.22582417
107HIF-1 signaling pathway_Homo sapiens_hsa040660.21082112
108Tight junction_Homo sapiens_hsa045300.19100048
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.18640990
110Hippo signaling pathway_Homo sapiens_hsa043900.16829467
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.13328839
112beta-Alanine metabolism_Homo sapiens_hsa004100.13249719

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