STX1A

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 member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.66147371
2synaptic vesicle exocytosis (GO:0016079)6.44208601
3* synaptic vesicle docking involved in exocytosis (GO:0016081)6.35090456
4synaptic vesicle maturation (GO:0016188)6.24289809
5* glutamate secretion (GO:0014047)6.22487684
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act6.21990382
7regulation of synaptic vesicle exocytosis (GO:2000300)6.13710612
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.11124545
9vocalization behavior (GO:0071625)5.98573894
10protein localization to synapse (GO:0035418)5.55466150
11locomotory exploration behavior (GO:0035641)5.52243647
12regulation of glutamate receptor signaling pathway (GO:1900449)5.47969461
13neuron cell-cell adhesion (GO:0007158)5.32240302
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.29583651
15regulation of synaptic vesicle transport (GO:1902803)5.28505327
16neurotransmitter-gated ion channel clustering (GO:0072578)5.26055348
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.12546812
18postsynaptic membrane organization (GO:0001941)4.70807628
19presynaptic membrane assembly (GO:0097105)4.60264998
20sodium ion export (GO:0071436)4.58921588
21* neurotransmitter secretion (GO:0007269)4.49725213
22regulation of neuronal synaptic plasticity (GO:0048168)4.47408076
23positive regulation of synapse maturation (GO:0090129)4.41680959
24neuronal action potential propagation (GO:0019227)4.36767495
25exploration behavior (GO:0035640)4.34574375
26synaptic transmission, glutamatergic (GO:0035249)4.32210134
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.31784079
28ionotropic glutamate receptor signaling pathway (GO:0035235)4.24744292
29presynaptic membrane organization (GO:0097090)4.22027424
30positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.16399053
31regulation of excitatory postsynaptic membrane potential (GO:0060079)4.13313643
32positive regulation of membrane potential (GO:0045838)4.12432589
33neuron-neuron synaptic transmission (GO:0007270)4.08688901
34positive regulation of dendritic spine development (GO:0060999)4.04640604
35layer formation in cerebral cortex (GO:0021819)4.04335940
36proline transport (GO:0015824)4.02383579
37neuronal ion channel clustering (GO:0045161)4.01296881
38L-amino acid import (GO:0043092)4.00301488
39regulation of postsynaptic membrane potential (GO:0060078)3.96812894
40regulation of synapse structural plasticity (GO:0051823)3.94057157
41regulation of synaptic plasticity (GO:0048167)3.90349336
42* regulation of neurotransmitter secretion (GO:0046928)3.89662707
43glutamate receptor signaling pathway (GO:0007215)3.89602437
44long-term synaptic potentiation (GO:0060291)3.89500344
45regulation of ARF protein signal transduction (GO:0032012)3.78401160
46positive regulation of dendritic spine morphogenesis (GO:0061003)3.76357073
47auditory behavior (GO:0031223)3.76013055
48negative regulation of synaptic transmission, GABAergic (GO:0032229)3.75457674
49dendritic spine morphogenesis (GO:0060997)3.74820183
50amino acid import (GO:0043090)3.73749136
51cerebellar granule cell differentiation (GO:0021707)3.73714217
52activation of protein kinase A activity (GO:0034199)3.69812297
53synaptic vesicle endocytosis (GO:0048488)3.69263461
54membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67193833
55mechanosensory behavior (GO:0007638)3.58599302
56long-term memory (GO:0007616)3.56216393
57cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.56167185
58G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.55637241
59neuron recognition (GO:0008038)3.55137268
60regulation of dendritic spine morphogenesis (GO:0061001)3.53454358
61gamma-aminobutyric acid signaling pathway (GO:0007214)3.51590308
62regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.50834540
63* neurotransmitter transport (GO:0006836)3.50779078
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.50742026
65potassium ion homeostasis (GO:0055075)3.48746897
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.48323715
67regulation of synapse maturation (GO:0090128)3.46937419
68* regulation of neurotransmitter transport (GO:0051588)3.44650897
69axonal fasciculation (GO:0007413)3.41648159
70chemosensory behavior (GO:0007635)3.40169609
71response to histamine (GO:0034776)3.39801977
72detection of calcium ion (GO:0005513)3.37961261
73regulation of vesicle fusion (GO:0031338)3.36317501
74negative regulation of dendrite morphogenesis (GO:0050774)3.32122480
75cytoskeletal anchoring at plasma membrane (GO:0007016)3.29186337
76regulation of dendritic spine development (GO:0060998)3.26178423
77* positive regulation of neurotransmitter secretion (GO:0001956)3.26159797
78neuromuscular process controlling posture (GO:0050884)3.24029989
79regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.23117218
80regulation of voltage-gated calcium channel activity (GO:1901385)3.21844163
81response to auditory stimulus (GO:0010996)3.21492420
82membrane depolarization (GO:0051899)3.20473233
83* regulation of neurotransmitter levels (GO:0001505)3.17986419
84cerebellar Purkinje cell differentiation (GO:0021702)3.17588950
85gamma-aminobutyric acid transport (GO:0015812)3.15804017
86regulation of glutamate secretion (GO:0014048)3.15269870
87* positive regulation of synaptic transmission (GO:0050806)3.14412112
88* regulation of synaptic transmission (GO:0050804)3.12377700
89behavioral response to cocaine (GO:0048148)3.09765657
90potassium ion import (GO:0010107)3.09048932
91cell communication by electrical coupling (GO:0010644)3.08891452
92neuromuscular synaptic transmission (GO:0007274)3.07396238
93neuromuscular process controlling balance (GO:0050885)3.07033532
94regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.06367534
95synaptic vesicle transport (GO:0048489)3.06196361
96establishment of synaptic vesicle localization (GO:0097480)3.06196361
97acidic amino acid transport (GO:0015800)3.05273418
98* positive regulation of neurotransmitter transport (GO:0051590)3.04746166
99cerebellar Purkinje cell layer development (GO:0021680)3.03444360
100learning (GO:0007612)3.01635897
101G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.01141667
102* synaptic transmission (GO:0007268)3.00653384
103* regulation of exocytosis (GO:0017157)3.00540349
104positive regulation of synaptic transmission, GABAergic (GO:0032230)2.99381674
105synapse assembly (GO:0007416)2.98916284
106* vesicle docking involved in exocytosis (GO:0006904)2.98271920
107cell migration in hindbrain (GO:0021535)2.98237464
108positive regulation of dendrite development (GO:1900006)2.97916373
109dendrite morphogenesis (GO:0048813)2.97428779
110* signal release (GO:0023061)2.97307494
111regulation of female receptivity (GO:0045924)2.96247835
112axon ensheathment in central nervous system (GO:0032291)2.95909278
113central nervous system myelination (GO:0022010)2.95909278
114negative regulation of dendrite development (GO:2000171)2.94957126
115cellular potassium ion homeostasis (GO:0030007)2.93774313
116negative regulation of microtubule polymerization (GO:0031115)2.92691073
117membrane hyperpolarization (GO:0060081)2.92449090
118innervation (GO:0060384)2.91803137
119transferrin transport (GO:0033572)2.90318524
120membrane depolarization during action potential (GO:0086010)2.89902350
121positive regulation of synapse assembly (GO:0051965)2.89606764
122phosphorelay signal transduction system (GO:0000160)2.89408218
123dendritic spine organization (GO:0097061)2.88360102
124mating behavior (GO:0007617)2.87857447
125negative regulation of amino acid transport (GO:0051956)2.87691181
126neuromuscular process (GO:0050905)2.86446398
127regulation of dendrite morphogenesis (GO:0048814)2.85235601
128intraspecies interaction between organisms (GO:0051703)2.85089612

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.98851301
2GBX2_23144817_ChIP-Seq_PC3_Human4.03144046
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.23417271
4THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.14165952
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.03705736
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00514229
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.94766458
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.77747507
9NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.75549206
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70452663
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70452663
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62830511
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59773316
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.55934853
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55523318
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52646922
17* REST_18959480_ChIP-ChIP_MESCs_Mouse2.48169295
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47602600
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46182642
20DROSHA_22980978_ChIP-Seq_HELA_Human2.45549986
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.28958199
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26423374
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.17276679
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.16928091
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.16228404
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09753406
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.07404531
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05864255
29IKZF1_21737484_ChIP-ChIP_HCT116_Human2.05173722
30TAF15_26573619_Chip-Seq_HEK293_Human2.03336907
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.99926084
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87000801
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84807268
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77298065
35LXR_22292898_ChIP-Seq_THP-1_Human1.68584708
36AR_21572438_ChIP-Seq_LNCaP_Human1.68443894
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68288622
38SMAD4_21799915_ChIP-Seq_A2780_Human1.65561301
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.53661513
40CTCF_27219007_Chip-Seq_Bcells_Human1.52186456
41SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.51787154
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50383808
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49351292
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.46773263
45P300_19829295_ChIP-Seq_ESCs_Human1.43293644
46SRY_22984422_ChIP-ChIP_TESTIS_Rat1.40165564
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39271285
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.38872165
49DNAJC2_21179169_ChIP-ChIP_NT2_Human1.38851888
50ZFP281_27345836_Chip-Seq_ESCs_Mouse1.38177497
51* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.35666756
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32363246
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.32279895
54* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30005892
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29659912
56OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.27912774
57ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.27537864
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26748560
59PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.26464710
60RING1B_27294783_Chip-Seq_ESCs_Mouse1.25832844
61AR_25329375_ChIP-Seq_VCAP_Human1.25354037
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.25042315
63ESR2_21235772_ChIP-Seq_MCF-7_Human1.24900327
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.23220108
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.21949014
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21709297
67ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.21239206
68AR_19668381_ChIP-Seq_PC3_Human1.17671301
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17338578
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17054125
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16318696
72STAT3_23295773_ChIP-Seq_U87_Human1.16009626
73RNF2_27304074_Chip-Seq_NSC_Mouse1.14540724
74SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.13829007
75SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.12659600
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.11926456
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.11350822
78RARG_19884340_ChIP-ChIP_MEFs_Mouse1.10777898
79SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09201105
80ZNF274_21170338_ChIP-Seq_K562_Hela1.09056026
81* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08602395
82AHR_22903824_ChIP-Seq_MCF-7_Human1.08596791
83SMC4_20622854_ChIP-Seq_HELA_Human1.07170055
84RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.06908912
85WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06697032
86* TCF4_23295773_ChIP-Seq_U87_Human1.06395320
87* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.05097972
88GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04819047
89EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03583305
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.03433771
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02655325
92POU3F2_20337985_ChIP-ChIP_501MEL_Human1.02601088
93PRDM14_20953172_ChIP-Seq_ESCs_Human1.02446105
94CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02412833
95FUS_26573619_Chip-Seq_HEK293_Human1.02381067
96MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01982431
97CREB1_26743006_Chip-Seq_LNCaP_Human1.01776465
98TET1_21451524_ChIP-Seq_MESCs_Mouse1.00914857
99ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00282405
100* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00236166
101WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00095691
102SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99924281
103OCT4_19829295_ChIP-Seq_ESCs_Human0.99855018
104* P68_20966046_ChIP-Seq_HELA_Human0.99789427
105VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.98960016
106ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.98870197
107SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.97649366
108TRIM28_21343339_ChIP-Seq_HEK293_Human0.96503762
109GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96197265
110SMAD3_21741376_ChIP-Seq_ESCs_Human0.96045279
111KDM2B_26808549_Chip-Seq_K562_Human0.96014957
112SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95145818
113POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94470110
114TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94470110
115JUN_21703547_ChIP-Seq_K562_Human0.92686297
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92458938
117RXR_22108803_ChIP-Seq_LS180_Human0.91270982
118TP53_23651856_ChIP-Seq_MEFs_Mouse0.90714307
119RUNX2_22187159_ChIP-Seq_PCA_Human0.90167462
120KLF4_19829295_ChIP-Seq_ESCs_Human0.89912756
121TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89509342
122SOX9_26525672_Chip-Seq_HEART_Mouse0.89493119
123VDR_22108803_ChIP-Seq_LS180_Human0.89477309
124TP53_20018659_ChIP-ChIP_R1E_Mouse0.89086343
125MYC_19915707_ChIP-ChIP_AK7_Human0.87999997
126TET1_21490601_ChIP-Seq_MESCs_Mouse0.87234893
127TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86365299
128CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86044551
129* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85599100
130NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84236012
131SMAD4_21741376_ChIP-Seq_HESCs_Human0.83929918
132* KDM2B_26808549_Chip-Seq_DND41_Human0.83756716
133DPY_21335234_ChIP-Seq_ESCs_Mouse0.83689056
134UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.83284824
135ER_23166858_ChIP-Seq_MCF-7_Human0.82624721
136SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.80891653
137CTCF_27219007_Chip-Seq_ERYTHROID_Human0.79704421
138DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.78984119
139KDM2B_26808549_Chip-Seq_JURKAT_Human0.78212495
140PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.77365709
141MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.76561693
142CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.75852869
143RACK7_27058665_Chip-Seq_MCF-7_Human0.75302054
144RUNX1_26923725_Chip-Seq_HPCs_Mouse0.74935174
145SMAD4_21741376_ChIP-Seq_ESCs_Human0.74900254
146GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.73567615
147CTNNB1_20460455_ChIP-Seq_HCT116_Human0.73184089
148JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.73026134

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.73112869
2MP0003880_abnormal_central_pattern5.20829805
3MP0004270_analgesia4.22148732
4* MP0003635_abnormal_synaptic_transmissio4.21194220
5MP0001968_abnormal_touch/_nociception3.55590840
6* MP0002063_abnormal_learning/memory/cond3.44984625
7MP0009745_abnormal_behavioral_response3.42838728
8MP0002064_seizures3.20713051
9MP0002734_abnormal_mechanical_nocicepti2.94505044
10MP0009046_muscle_twitch2.94155561
11MP0002572_abnormal_emotion/affect_behav2.90331093
12MP0002736_abnormal_nociception_after2.87267009
13MP0009780_abnormal_chondrocyte_physiolo2.82181878
14MP0002735_abnormal_chemical_nociception2.47221507
15MP0005423_abnormal_somatic_nervous2.45098471
16MP0002272_abnormal_nervous_system2.45043172
17MP0001486_abnormal_startle_reflex2.38654242
18MP0003879_abnormal_hair_cell2.24131716
19MP0003123_paternal_imprinting2.22788265
20MP0002822_catalepsy2.15553105
21MP0001440_abnormal_grooming_behavior2.15102345
22MP0002733_abnormal_thermal_nociception2.05784615
23MP0001501_abnormal_sleep_pattern2.04691733
24MP0002067_abnormal_sensory_capabilities2.00889894
25MP0001970_abnormal_pain_threshold1.99855983
26MP0000778_abnormal_nervous_system1.94402168
27MP0004858_abnormal_nervous_system1.91127062
28MP0003787_abnormal_imprinting1.88368646
29MP0002184_abnormal_innervation1.82443326
30* MP0004811_abnormal_neuron_physiology1.82148789
31MP0002557_abnormal_social/conspecific_i1.80346746
32MP0005646_abnormal_pituitary_gland1.77399410
33MP0008569_lethality_at_weaning1.71907019
34MP0003329_amyloid_beta_deposits1.69407075
35MP0001984_abnormal_olfaction1.69284185
36MP0004924_abnormal_behavior1.66431900
37MP0005386_behavior/neurological_phenoty1.66431900
38MP0000920_abnormal_myelination1.51433613
39MP0004510_myositis1.50357013
40MP0002909_abnormal_adrenal_gland1.48608726
41MP0000955_abnormal_spinal_cord1.47988173
42MP0006276_abnormal_autonomic_nervous1.44893877
43MP0003690_abnormal_glial_cell1.38413775
44* MP0002882_abnormal_neuron_morphology1.38034038
45MP0002066_abnormal_motor_capabilities/c1.37948524
46MP0003633_abnormal_nervous_system1.36905145
47MP0001502_abnormal_circadian_rhythm1.36450462
48MP0005645_abnormal_hypothalamus_physiol1.36072072
49MP0001905_abnormal_dopamine_level1.23277272
50MP0003122_maternal_imprinting1.19072878
51MP0004885_abnormal_endolymph1.16973793
52MP0003631_nervous_system_phenotype1.12050867
53MP0003172_abnormal_lysosome_physiology1.11647452
54MP0001188_hyperpigmentation1.11162165
55MP0002152_abnormal_brain_morphology1.10574638
56MP0000751_myopathy1.09416405
57MP0003283_abnormal_digestive_organ1.07115061
58MP0010386_abnormal_urinary_bladder1.03676181
59MP0004742_abnormal_vestibular_system1.00625524
60MP0002876_abnormal_thyroid_physiology1.00617019
61MP0008872_abnormal_physiological_respon1.00023991
62MP0001529_abnormal_vocalization0.96926884
63MP0002069_abnormal_eating/drinking_beha0.94973476
64MP0003183_abnormal_peptide_metabolism0.94092062
65MP0005499_abnormal_olfactory_system0.93691522
66MP0005394_taste/olfaction_phenotype0.93691522
67MP0004142_abnormal_muscle_tone0.91178336
68MP0008874_decreased_physiological_sensi0.89970618
69MP0000569_abnormal_digit_pigmentation0.89840712
70MP0001963_abnormal_hearing_physiology0.88593989
71MP0000013_abnormal_adipose_tissue0.85562278
72MP0002653_abnormal_ependyma_morphology0.85092779
73MP0002229_neurodegeneration0.80210725
74MP0002837_dystrophic_cardiac_calcinosis0.78975134
75MP0004085_abnormal_heartbeat0.78327188
76MP0005623_abnormal_meninges_morphology0.75294529
77MP0000631_abnormal_neuroendocrine_gland0.74959013
78MP0005535_abnormal_body_temperature0.73315146
79MP0001664_abnormal_digestion0.72081624
80MP0004145_abnormal_muscle_electrophysio0.71346177
81MP0001986_abnormal_taste_sensitivity0.69492268
82MP0002638_abnormal_pupillary_reflex0.68965395
83MP0005551_abnormal_eye_electrophysiolog0.68228161
84MP0002752_abnormal_somatic_nervous0.68109981
85MP0004484_altered_response_of0.67847908
86MP0000604_amyloidosis0.67739415
87MP0001485_abnormal_pinna_reflex0.67346084
88MP0001177_atelectasis0.66477496
89MP0003121_genomic_imprinting0.63767883
90MP0003075_altered_response_to0.63624981
91MP0008004_abnormal_stomach_pH0.62455756
92MP0008961_abnormal_basal_metabolism0.62425567
93MP0008877_abnormal_DNA_methylation0.60860031
94MP0003861_abnormal_nervous_system0.60476731
95MP0004233_abnormal_muscle_weight0.60250515
96MP0001348_abnormal_lacrimal_gland0.59820323
97MP0003632_abnormal_nervous_system0.59184276
98MP0003634_abnormal_glial_cell0.58958598
99MP0003045_fibrosis0.58451188
100MP0001943_abnormal_respiration0.57129001
101MP0004130_abnormal_muscle_cell0.56088270
102MP0001299_abnormal_eye_distance/0.56020385
103MP0010769_abnormal_survival0.55583649
104MP0001346_abnormal_lacrimal_gland0.55152810
105MP0005171_absent_coat_pigmentation0.54830221
106MP0010770_preweaning_lethality0.54771389
107MP0002082_postnatal_lethality0.54771389
108MP0004215_abnormal_myocardial_fiber0.54709339
109MP0002751_abnormal_autonomic_nervous0.52808590
110MP0005167_abnormal_blood-brain_barrier0.52532737
111MP0010768_mortality/aging0.52476055
112MP0004043_abnormal_pH_regulation0.52214682
113MP0002090_abnormal_vision0.51020336
114MP0005187_abnormal_penis_morphology0.50716988
115MP0001765_abnormal_ion_homeostasis0.50092860
116MP0005166_decreased_susceptibility_to0.49952998
117MP0000639_abnormal_adrenal_gland0.49538641
118* MP0003956_abnormal_body_size0.49330178
119MP0005409_darkened_coat_color0.48768697
120MP0001944_abnormal_pancreas_morphology0.47591218
121MP0005448_abnormal_energy_balance0.47514964
122MP0003137_abnormal_impulse_conducting0.46930778

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.96054953
2Myokymia (HP:0002411)6.42801655
3Epileptic encephalopathy (HP:0200134)6.32076951
4Focal seizures (HP:0007359)5.88006359
5Atonic seizures (HP:0010819)5.64168537
6Visual hallucinations (HP:0002367)5.33601603
7Febrile seizures (HP:0002373)4.89135342
8Hyperventilation (HP:0002883)4.80777766
9Absence seizures (HP:0002121)4.34769023
10Neurofibrillary tangles (HP:0002185)4.32647967
11Broad-based gait (HP:0002136)4.09283724
12Dialeptic seizures (HP:0011146)4.06452352
13Progressive cerebellar ataxia (HP:0002073)3.89269846
14Generalized tonic-clonic seizures (HP:0002069)3.87479731
15Poor eye contact (HP:0000817)3.68046105
16Amblyopia (HP:0000646)3.60249990
17Ankle clonus (HP:0011448)3.56479841
18Impaired vibration sensation in the lower limbs (HP:0002166)3.51530139
19Urinary bladder sphincter dysfunction (HP:0002839)3.46029749
20Gaze-evoked nystagmus (HP:0000640)3.37620665
21Neuronal loss in central nervous system (HP:0002529)3.30941150
22Cerebral hypomyelination (HP:0006808)3.19369702
23Tetraplegia (HP:0002445)3.13675575
24Abnormality of the lower motor neuron (HP:0002366)3.09583496
25Abnormal social behavior (HP:0012433)3.09550243
26Impaired social interactions (HP:0000735)3.09550243
27Depression (HP:0000716)3.05305883
28Intention tremor (HP:0002080)3.03269012
29Abnormal eating behavior (HP:0100738)3.02349475
30Excessive salivation (HP:0003781)2.98608839
31Drooling (HP:0002307)2.98608839
32Apathy (HP:0000741)2.91703834
33Truncal ataxia (HP:0002078)2.88083515
34Epileptiform EEG discharges (HP:0011182)2.87882058
35Action tremor (HP:0002345)2.86557418
36Supranuclear gaze palsy (HP:0000605)2.83961046
37Dysdiadochokinesis (HP:0002075)2.82136954
38Insomnia (HP:0100785)2.82010464
39Urinary urgency (HP:0000012)2.81918574
40Distal upper limb amyotrophy (HP:0007149)2.73875538
41Upper limb amyotrophy (HP:0009129)2.73875538
42Impaired smooth pursuit (HP:0007772)2.73591807
43Hand muscle atrophy (HP:0009130)2.72653551
44Mutism (HP:0002300)2.71823684
45Dysmetric saccades (HP:0000641)2.71684666
46Protruding tongue (HP:0010808)2.69164743
47Genetic anticipation (HP:0003743)2.66332454
48Diminished motivation (HP:0000745)2.64774442
49Insidious onset (HP:0003587)2.63857136
50Termporal pattern (HP:0011008)2.63857136
51Papilledema (HP:0001085)2.61672262
52EEG with generalized epileptiform discharges (HP:0011198)2.59828871
53Impaired vibratory sensation (HP:0002495)2.58875979
54Inability to walk (HP:0002540)2.58755357
55Anxiety (HP:0000739)2.58462387
56Stereotypic behavior (HP:0000733)2.57263865
57Fetal akinesia sequence (HP:0001989)2.56531042
58Dysmetria (HP:0001310)2.55744332
59Spastic gait (HP:0002064)2.55396554
60Postural instability (HP:0002172)2.50117560
61Pheochromocytoma (HP:0002666)2.47725130
62Torticollis (HP:0000473)2.46974222
63Hypsarrhythmia (HP:0002521)2.46806634
64Polyphagia (HP:0002591)2.46373904
65Absent speech (HP:0001344)2.45682686
66Abnormality of the corticospinal tract (HP:0002492)2.43509811
67Bradykinesia (HP:0002067)2.38828476
68Rigidity (HP:0002063)2.38771077
69Focal dystonia (HP:0004373)2.34232867
70Lower limb muscle weakness (HP:0007340)2.32894223
71Hyperthyroidism (HP:0000836)2.31879190
72Peripheral hypomyelination (HP:0007182)2.27961359
73Gait imbalance (HP:0002141)2.24539492
74Abnormality of ocular smooth pursuit (HP:0000617)2.24453300
75Limb dystonia (HP:0002451)2.24087883
76Neuroendocrine neoplasm (HP:0100634)2.17830453
77Diplopia (HP:0000651)2.16920795
78Abnormality of binocular vision (HP:0011514)2.16920795
79Delusions (HP:0000746)2.15623501
80Hemiparesis (HP:0001269)2.13488080
81Progressive inability to walk (HP:0002505)2.12128251
82Spastic tetraparesis (HP:0001285)2.12126611
83Status epilepticus (HP:0002133)2.11740126
84Blue irides (HP:0000635)2.09857717
85Abnormal hair whorl (HP:0010721)2.07557662
86Craniofacial dystonia (HP:0012179)2.05754570
87Hypoventilation (HP:0002791)2.05172497
88Rapidly progressive (HP:0003678)2.04184135
89Cerebral inclusion bodies (HP:0100314)2.03917337
90Generalized myoclonic seizures (HP:0002123)2.03714650
91Abnormality of salivation (HP:0100755)2.03706632
92Specific learning disability (HP:0001328)2.03238417
93Amyotrophic lateral sclerosis (HP:0007354)2.02480632
94Incomplete penetrance (HP:0003829)2.01238147
95Failure to thrive in infancy (HP:0001531)2.00297229
96Choreoathetosis (HP:0001266)1.93873320
97Scanning speech (HP:0002168)1.93824140
98Obstructive sleep apnea (HP:0002870)1.93004117
99CNS hypomyelination (HP:0003429)1.91391849
100Akinesia (HP:0002304)1.90310741
101Gait ataxia (HP:0002066)1.87281997
102Agitation (HP:0000713)1.86999201
103Spinal canal stenosis (HP:0003416)1.86454287
104Insulin-resistant diabetes mellitus (HP:0000831)1.85789690
105Lower limb amyotrophy (HP:0007210)1.84711731
106Resting tremor (HP:0002322)1.82768170
107Sleep apnea (HP:0010535)1.82629665
108Megalencephaly (HP:0001355)1.82081004
109Hemiplegia (HP:0002301)1.81470668
110Dementia (HP:0000726)1.81185824
111Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.81017428
112Inappropriate behavior (HP:0000719)1.79625413
113Degeneration of the lateral corticospinal tracts (HP:0002314)1.79427752
114Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.79427752
115Increased circulating renin level (HP:0000848)1.77633941
116Diminished movement (HP:0002374)1.77295976
117Annular pancreas (HP:0001734)1.77076125
118Ventricular fibrillation (HP:0001663)1.76157946
119Abnormality of pain sensation (HP:0010832)1.75939355
120Impaired pain sensation (HP:0007328)1.75939355
121Hyperinsulinemic hypoglycemia (HP:0000825)1.75503505
122Hypoglycemic seizures (HP:0002173)1.74919657
123Intellectual disability, severe (HP:0010864)1.73291835
124Congenital primary aphakia (HP:0007707)1.73151096
125Growth hormone excess (HP:0000845)1.72439028
126Upper limb muscle weakness (HP:0003484)1.72430740
127Clonus (HP:0002169)1.72247662
128Pointed chin (HP:0000307)1.70052484
129Bundle branch block (HP:0011710)1.69821966
130Distal sensory impairment (HP:0002936)1.66852694
131Abnormality of saccadic eye movements (HP:0000570)1.66442809
132Distal lower limb amyotrophy (HP:0008944)1.65734106
133Nuclear cataract (HP:0100018)1.63780491
134Hyperacusis (HP:0010780)1.63674184

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.05681104
2EPHA44.37030415
3NTRK33.51121156
4MAP3K93.48679269
5MARK13.18761950
6MAP3K43.02790835
7CDK192.93971694
8MAP2K72.81005391
9MAP3K122.51780804
10MINK12.41095797
11CCNB12.31985186
12PLK22.30079479
13PAK62.11324377
14PRPF4B1.96692911
15* DAPK21.90997873
16MAP2K41.83330258
17TESK11.73475344
18CAMKK11.72488577
19NTRK21.67442521
20KSR21.60780124
21GRK51.60359955
22MAPK131.59754979
23LIMK11.59410198
24* DAPK11.58544039
25AKT31.57346109
26PRKD31.51871678
27KSR11.49048749
28CDK51.48188537
29NTRK11.41628274
30OXSR11.38692086
31CAMKK21.25183533
32PRKCG1.20962437
33ARAF1.20336333
34RIPK41.19536782
35SIK21.08578584
36RIPK11.07372423
37MAP3K111.06049905
38TAOK11.04008323
39CDK181.03311061
40SGK2231.01937027
41SGK4941.01937027
42UHMK10.99591606
43TYRO30.99203185
44CDK150.98663927
45PTK2B0.97641266
46CDK140.93781141
47MAP3K20.91020334
48SGK20.88667702
49CAMK2A0.88289869
50CDK11A0.87259700
51PNCK0.85386603
52LATS20.85109633
53TNIK0.84108964
54NEK60.82569878
55STK110.82564693
56PINK10.81511913
57SIK30.80777110
58CAMK10.80604347
59PHKG10.79186649
60PHKG20.79186649
61STK380.77300195
62BRAF0.72565302
63PTK20.70175724
64CAMK2B0.69679029
65SGK30.68398128
66CSNK1G20.66881113
67NEK10.66232968
68MAP2K60.65615722
69FES0.64607143
70RAF10.62309531
71PRKCH0.62256613
72RET0.61740826
73DYRK1A0.61630150
74BMPR20.61597030
75MAPK120.59658228
76PAK30.58504025
77PKN10.58419253
78SGK10.56764874
79BMX0.56348936
80MARK20.56213405
81PDK30.55087892
82PDK40.55087892
83PDK10.54380172
84TSSK60.53165250
85CAMK40.52722822
86IRAK20.51506537
87ERBB30.50435510
88MAP3K130.50056307
89PDPK10.49701337
90IRAK30.49416194
91PRKCE0.48726131
92MAP3K60.46993388
93ALK0.46659374
94MOS0.45926593
95NME10.45793018
96EPHA20.45238889
97PRKG20.45195009
98MAPK70.44200543
99ADRBK10.43288176
100ROCK20.42832561
101CAMK1G0.42602304
102MAP2K10.41728807
103PRKCZ0.40576069
104RPS6KA20.39831176
105FGR0.38662043
106MST1R0.37812105
107BRSK10.35931607
108RPS6KA30.35477254
109ROCK10.35154272
110BCR0.34062915
111PRKCA0.33621683
112PRKCI0.33078315
113FER0.32795234
114TAOK20.32245536
115FYN0.31533804
116MAP3K10.29979572
117PAK10.29495684
118LMTK20.28790205
119TNK20.26217271
120MAPK100.24288071
121CAMK2D0.24082799
122DYRK20.24067212
123CAMK2G0.23842276

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047214.05918466
2Nicotine addiction_Homo sapiens_hsa050333.62456454
3Olfactory transduction_Homo sapiens_hsa047403.17601707
4Circadian entrainment_Homo sapiens_hsa047132.73124316
5Long-term potentiation_Homo sapiens_hsa047202.71011333
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.68814606
7Morphine addiction_Homo sapiens_hsa050322.53365391
8Glutamatergic synapse_Homo sapiens_hsa047242.47710385
9GABAergic synapse_Homo sapiens_hsa047272.46723498
10Collecting duct acid secretion_Homo sapiens_hsa049662.35992734
11* Amphetamine addiction_Homo sapiens_hsa050312.35232255
12Dopaminergic synapse_Homo sapiens_hsa047282.20913618
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.07294340
14Salivary secretion_Homo sapiens_hsa049702.05798986
15* Insulin secretion_Homo sapiens_hsa049112.00544921
16Cholinergic synapse_Homo sapiens_hsa047251.85259964
17Gastric acid secretion_Homo sapiens_hsa049711.84273785
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.81348105
19Taste transduction_Homo sapiens_hsa047421.71204234
20Oxytocin signaling pathway_Homo sapiens_hsa049211.70810005
21Vitamin B6 metabolism_Homo sapiens_hsa007501.68769669
22Renin secretion_Homo sapiens_hsa049241.65112572
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.61973158
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61080773
25Serotonergic synapse_Homo sapiens_hsa047261.58153998
26Long-term depression_Homo sapiens_hsa047301.56816071
27Vibrio cholerae infection_Homo sapiens_hsa051101.55026475
28Calcium signaling pathway_Homo sapiens_hsa040201.47830301
29Cocaine addiction_Homo sapiens_hsa050301.44639949
30GnRH signaling pathway_Homo sapiens_hsa049121.39647440
31Gap junction_Homo sapiens_hsa045401.35467254
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35439512
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.23656439
34Glioma_Homo sapiens_hsa052141.23563758
35Axon guidance_Homo sapiens_hsa043601.23521391
36Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.23382158
37cAMP signaling pathway_Homo sapiens_hsa040241.18907004
38ErbB signaling pathway_Homo sapiens_hsa040121.16158730
39Estrogen signaling pathway_Homo sapiens_hsa049151.12491413
40Type II diabetes mellitus_Homo sapiens_hsa049301.12075811
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09826109
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.08461537
43Melanogenesis_Homo sapiens_hsa049161.02852953
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98881793
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.94254035
46Oocyte meiosis_Homo sapiens_hsa041140.92728677
47Phototransduction_Homo sapiens_hsa047440.89663064
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.85021028
49MAPK signaling pathway_Homo sapiens_hsa040100.76418297
50Cardiac muscle contraction_Homo sapiens_hsa042600.75507081
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72913103
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.72521046
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.71758145
54Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.70910820
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.66917458
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64749616
57Ras signaling pathway_Homo sapiens_hsa040140.64305868
58Circadian rhythm_Homo sapiens_hsa047100.63877456
59Dorso-ventral axis formation_Homo sapiens_hsa043200.63860300
60Pancreatic secretion_Homo sapiens_hsa049720.63599987
61Dilated cardiomyopathy_Homo sapiens_hsa054140.63096999
62Bile secretion_Homo sapiens_hsa049760.62558246
63Glucagon signaling pathway_Homo sapiens_hsa049220.62000708
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.60240918
65VEGF signaling pathway_Homo sapiens_hsa043700.58637680
66Thyroid hormone synthesis_Homo sapiens_hsa049180.57998732
67Endometrial cancer_Homo sapiens_hsa052130.56301666
68Choline metabolism in cancer_Homo sapiens_hsa052310.55331658
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.54361882
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.54228985
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53083678
72Rap1 signaling pathway_Homo sapiens_hsa040150.52683832
73Alcoholism_Homo sapiens_hsa050340.52088763
74Endocytosis_Homo sapiens_hsa041440.51420219
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51233308
76Insulin signaling pathway_Homo sapiens_hsa049100.51199166
77Renal cell carcinoma_Homo sapiens_hsa052110.50085216
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48066501
79Rheumatoid arthritis_Homo sapiens_hsa053230.47762345
80mTOR signaling pathway_Homo sapiens_hsa041500.47253950
81Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45598019
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.45280383
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44705729
84Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44260127
85Inositol phosphate metabolism_Homo sapiens_hsa005620.43810065
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42420193
87Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42045221
88Colorectal cancer_Homo sapiens_hsa052100.42016254
89Wnt signaling pathway_Homo sapiens_hsa043100.41561543
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.40926229
91Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40217712
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.39094475
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.38717659
94Prion diseases_Homo sapiens_hsa050200.38623541
95Phagosome_Homo sapiens_hsa041450.38065284
96Non-small cell lung cancer_Homo sapiens_hsa052230.37997768
97Type I diabetes mellitus_Homo sapiens_hsa049400.37982234
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37880250
99Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35787776
100Alzheimers disease_Homo sapiens_hsa050100.34852071
101Maturity onset diabetes of the young_Homo sapiens_hsa049500.33997363
102AMPK signaling pathway_Homo sapiens_hsa041520.33579915
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.33203644
104Chemokine signaling pathway_Homo sapiens_hsa040620.31896446
105Mineral absorption_Homo sapiens_hsa049780.30131229
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.27950732
107Salmonella infection_Homo sapiens_hsa051320.27474770
108Hippo signaling pathway_Homo sapiens_hsa043900.26442891
109Oxidative phosphorylation_Homo sapiens_hsa001900.26307301
110Tight junction_Homo sapiens_hsa045300.25550573
111Ovarian steroidogenesis_Homo sapiens_hsa049130.25341524
112* SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24817476
113Melanoma_Homo sapiens_hsa052180.24526194
114Regulation of autophagy_Homo sapiens_hsa041400.24301608
115Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.23890445
116Arginine and proline metabolism_Homo sapiens_hsa003300.23712161
117HIF-1 signaling pathway_Homo sapiens_hsa040660.22385470

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