SNPH

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: Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.55046422
2synaptic vesicle maturation (GO:0016188)6.51738715
3locomotory exploration behavior (GO:0035641)6.21336861
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.02065615
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.67320288
6synaptic vesicle exocytosis (GO:0016079)5.53825345
7vocalization behavior (GO:0071625)5.49122380
8glutamate secretion (GO:0014047)5.44401328
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.33120494
10regulation of synaptic vesicle exocytosis (GO:2000300)5.27326366
11regulation of glutamate receptor signaling pathway (GO:1900449)5.06654779
12regulation of neuronal synaptic plasticity (GO:0048168)4.86222465
13regulation of synaptic vesicle transport (GO:1902803)4.77071028
14neuronal action potential propagation (GO:0019227)4.74751084
15regulation of long-term neuronal synaptic plasticity (GO:0048169)4.71032864
16exploration behavior (GO:0035640)4.68757721
17protein localization to synapse (GO:0035418)4.67931233
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.66364498
19cerebellar granule cell differentiation (GO:0021707)4.61335463
20regulation of synapse structural plasticity (GO:0051823)4.59004383
21amino acid import (GO:0043090)4.47767302
22* neurotransmitter secretion (GO:0007269)4.45669651
23* synaptic vesicle docking involved in exocytosis (GO:0016081)4.43068864
24synaptic transmission, glutamatergic (GO:0035249)4.28580438
25neurotransmitter-gated ion channel clustering (GO:0072578)4.23688347
26cellular potassium ion homeostasis (GO:0030007)4.20448869
27dendritic spine morphogenesis (GO:0060997)4.18078615
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.17296031
29long-term memory (GO:0007616)4.15467780
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.14972473
31layer formation in cerebral cortex (GO:0021819)4.13153069
32glutamate receptor signaling pathway (GO:0007215)4.06852708
33neuron cell-cell adhesion (GO:0007158)4.05118584
34positive regulation of membrane potential (GO:0045838)4.04335346
35potassium ion homeostasis (GO:0055075)4.03636851
36sodium ion export (GO:0071436)3.98861036
37neuron-neuron synaptic transmission (GO:0007270)3.97856617
38regulation of excitatory postsynaptic membrane potential (GO:0060079)3.91752490
39proline transport (GO:0015824)3.89781469
40gamma-aminobutyric acid transport (GO:0015812)3.86368755
41regulation of synaptic plasticity (GO:0048167)3.81208132
42regulation of dendritic spine morphogenesis (GO:0061001)3.77619041
43regulation of synapse maturation (GO:0090128)3.71962893
44regulation of postsynaptic membrane potential (GO:0060078)3.69383691
45activation of protein kinase A activity (GO:0034199)3.68423953
46neuromuscular process controlling balance (GO:0050885)3.67763357
47cytoskeletal anchoring at plasma membrane (GO:0007016)3.66807869
48axon ensheathment in central nervous system (GO:0032291)3.62331285
49central nervous system myelination (GO:0022010)3.62331285
50* neurotransmitter transport (GO:0006836)3.61331203
51positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.59355344
52cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.59082060
53positive regulation of synapse maturation (GO:0090129)3.57392191
54regulation of neurotransmitter secretion (GO:0046928)3.54935423
55long-term synaptic potentiation (GO:0060291)3.52392893
56synaptic vesicle endocytosis (GO:0048488)3.51912430
57negative regulation of dendrite morphogenesis (GO:0050774)3.49947955
58positive regulation of synaptic transmission, GABAergic (GO:0032230)3.49181158
59transmission of nerve impulse (GO:0019226)3.46128316
60neuromuscular process controlling posture (GO:0050884)3.45336778
61G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.43579614
62cell communication by electrical coupling (GO:0010644)3.40724972
63glycine transport (GO:0015816)3.38692909
64positive regulation of neurotransmitter transport (GO:0051590)3.38617309
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.38455187
66positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.38065259
67regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.37679915
68positive regulation of neurotransmitter secretion (GO:0001956)3.36636357
69auditory behavior (GO:0031223)3.35892074
70regulation of vesicle fusion (GO:0031338)3.33884574
71* regulation of neurotransmitter levels (GO:0001505)3.33801027
72L-amino acid import (GO:0043092)3.32700425
73regulation of neurotransmitter transport (GO:0051588)3.32453557
74prepulse inhibition (GO:0060134)3.30744570
75cerebellar Purkinje cell differentiation (GO:0021702)3.29846883
76response to auditory stimulus (GO:0010996)3.29414584
77regulation of ARF protein signal transduction (GO:0032012)3.26780481
78dendritic spine organization (GO:0097061)3.26253495
79regulation of female receptivity (GO:0045924)3.26233989
80membrane depolarization during action potential (GO:0086010)3.23153302
81acidic amino acid transport (GO:0015800)3.20831198
82neuronal ion channel clustering (GO:0045161)3.20388009
83membrane depolarization (GO:0051899)3.19953447
84neuron recognition (GO:0008038)3.18748601
85innervation (GO:0060384)3.17806629
86gamma-aminobutyric acid signaling pathway (GO:0007214)3.17153474
87positive regulation of dendritic spine development (GO:0060999)3.16396413
88dendrite morphogenesis (GO:0048813)3.13911999
89membrane hyperpolarization (GO:0060081)3.13804591
90positive regulation of synaptic transmission (GO:0050806)3.12634515
91regulation of dendritic spine development (GO:0060998)3.12521897
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.12426414
93vesicle transport along microtubule (GO:0047496)3.12184107
94regulation of synaptic transmission (GO:0050804)3.09799721
95chemosensory behavior (GO:0007635)3.06904109
96learning (GO:0007612)3.05709298
97negative regulation of synaptic transmission, GABAergic (GO:0032229)3.05652320
98neuromuscular process (GO:0050905)3.03424665
99behavioral defense response (GO:0002209)3.02014011
100behavioral fear response (GO:0001662)3.02014011
101positive regulation of dendritic spine morphogenesis (GO:0061003)3.02013982
102cell migration in hindbrain (GO:0021535)3.02000249
103cellular sodium ion homeostasis (GO:0006883)3.01841124
104positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.01362454
105establishment of synaptic vesicle localization (GO:0097480)3.00960267
106synaptic vesicle transport (GO:0048489)3.00960267
107neuromuscular synaptic transmission (GO:0007274)3.00252151
108G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.99775729
109synaptic transmission (GO:0007268)2.99711362
110negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.97959102
111regulation of voltage-gated calcium channel activity (GO:1901385)2.96753020
112postsynaptic membrane organization (GO:0001941)2.96487058
113axonal fasciculation (GO:0007413)2.94622916
114cell differentiation in hindbrain (GO:0021533)2.93325858
115potassium ion import (GO:0010107)2.92106497
116regulation of exocytosis (GO:0017157)2.90790868
117regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.90419653
118cell communication involved in cardiac conduction (GO:0086065)2.87649066
119positive regulation of dendrite development (GO:1900006)2.86931769
120L-glutamate transport (GO:0015813)2.84987362
121neurotransmitter uptake (GO:0001504)2.84873671

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.03164504
2GBX2_23144817_ChIP-Seq_PC3_Human3.17183516
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13025904
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05339101
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04394151
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.97891298
7REST_21632747_ChIP-Seq_MESCs_Mouse2.89384299
8DROSHA_22980978_ChIP-Seq_HELA_Human2.78785621
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.77710675
10* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.77710675
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.70891512
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.62129669
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61251300
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59775528
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46220424
16* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46057500
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.43648014
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.37524044
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34642095
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.31400361
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.30189594
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.26767714
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.25446360
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.18341182
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.18267113
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00847146
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.89337641
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.87788945
29AR_21572438_ChIP-Seq_LNCaP_Human1.82191488
30KDM2B_26808549_Chip-Seq_SUP-B15_Human1.75986929
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.73419060
32LXR_22292898_ChIP-Seq_THP-1_Human1.72548499
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54006222
34SMAD4_21799915_ChIP-Seq_A2780_Human1.50341048
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.50196400
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.47639604
37SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.47074948
38RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44986243
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.40024734
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39774683
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.37979243
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37497881
43TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.31882321
44KDM2B_26808549_Chip-Seq_DND41_Human1.31273486
45SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.31056669
46KDM2B_26808549_Chip-Seq_K562_Human1.29141899
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27730456
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.26826532
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25665640
50ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.25336705
51TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.24088888
52AR_19668381_ChIP-Seq_PC3_Human1.24001773
53OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.23556011
54EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.22760825
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21643944
56SRY_22984422_ChIP-ChIP_TESTIS_Rat1.20301756
57ZNF274_21170338_ChIP-Seq_K562_Hela1.19814057
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18899396
59SMC4_20622854_ChIP-Seq_HELA_Human1.18898944
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18562950
61ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18445875
62ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.16689785
63TAF15_26573619_Chip-Seq_HEK293_Human1.14900656
64STAT3_23295773_ChIP-Seq_U87_Human1.14888669
65WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14797636
66AR_25329375_ChIP-Seq_VCAP_Human1.13530623
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.12810271
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12263157
69SMAD3_21741376_ChIP-Seq_EPCs_Human1.11865078
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.11160151
71RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10760201
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.10608691
73UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.10130357
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08782590
75CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08570073
76SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08351357
77P300_19829295_ChIP-Seq_ESCs_Human1.08142069
78PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.06154024
79OCT4_19829295_ChIP-Seq_ESCs_Human1.06134058
80CREB1_26743006_Chip-Seq_LNCaP_Human1.05730757
81ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05633156
82EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03209708
83TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02938652
84RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02864586
85P68_20966046_ChIP-Seq_HELA_Human1.02165692
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00236261
87ZFP57_27257070_Chip-Seq_ESCs_Mouse0.99541179
88RARG_19884340_ChIP-ChIP_MEFs_Mouse0.99289088
89TCF4_23295773_ChIP-Seq_U87_Human0.98855286
90TOP2B_26459242_ChIP-Seq_MCF-7_Human0.98317548
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97762329
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.96859478
93PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96506766
94OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96452350
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95199968
96TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95130696
97ARNT_22903824_ChIP-Seq_MCF-7_Human0.94651168
98TP53_20018659_ChIP-ChIP_R1E_Mouse0.94190537
99TRIM28_21343339_ChIP-Seq_HEK293_Human0.94027852
100CTCF_27219007_Chip-Seq_Bcells_Human0.94009820
101SMAD4_21741376_ChIP-Seq_HESCs_Human0.93926410
102TET1_21490601_ChIP-Seq_MESCs_Mouse0.93777622
103TET1_21451524_ChIP-Seq_MESCs_Mouse0.93737000
104SMAD3_21741376_ChIP-Seq_ESCs_Human0.93609903
105CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93075861
106KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.93000484
107PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.92945399
108PIAS1_25552417_ChIP-Seq_VCAP_Human0.92862182
109VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92740215
110TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92509376
111CBX2_27304074_Chip-Seq_ESCs_Mouse0.92483017
112ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91833755
113AHR_22903824_ChIP-Seq_MCF-7_Human0.91702437
114DPY_21335234_ChIP-Seq_ESCs_Mouse0.91665468
115SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91307783
116* KLF4_19829295_ChIP-Seq_ESCs_Human0.91101055
117TP53_23651856_ChIP-Seq_MEFs_Mouse0.91043639
118CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89383566
119CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88218656
120PRDM14_20953172_ChIP-Seq_ESCs_Human0.87696523
121NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87382534
122RXR_22108803_ChIP-Seq_LS180_Human0.87038303
123GATA1_26923725_Chip-Seq_HPCs_Mouse0.86504441
124TCF7_22412390_ChIP-Seq_EML_Mouse0.85968752
125SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84665264
126CTCF_27219007_Chip-Seq_ERYTHROID_Human0.84633241
127AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83933022
128RUNX2_22187159_ChIP-Seq_PCA_Human0.83828084
129SA1_27219007_Chip-Seq_ERYTHROID_Human0.83361730
130BMI1_23680149_ChIP-Seq_NPCS_Mouse0.83085029
131MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.82700585
132SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82508289
133THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.82419998
134TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.81671090
135EGR1_19032775_ChIP-ChIP_M12_Human0.80944742
136TP53_16413492_ChIP-PET_HCT116_Human0.79933857
137DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79869294
138TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.79815116
139MYC_19915707_ChIP-ChIP_AK7_Human0.79114734
140SMAD4_21741376_ChIP-Seq_ESCs_Human0.78591203
141RACK7_27058665_Chip-Seq_MCF-7_Human0.78303419
142SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.77253045

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.32468328
2MP0003880_abnormal_central_pattern4.71603457
3* MP0003635_abnormal_synaptic_transmissio4.31168503
4MP0004270_analgesia3.89922548
5MP0009745_abnormal_behavioral_response3.52440205
6MP0002822_catalepsy3.48987380
7MP0002063_abnormal_learning/memory/cond3.44971957
8MP0002064_seizures3.25399670
9MP0009046_muscle_twitch3.01416016
10MP0001968_abnormal_touch/_nociception2.95170227
11MP0002572_abnormal_emotion/affect_behav2.81315916
12MP0005423_abnormal_somatic_nervous2.80894275
13MP0002272_abnormal_nervous_system2.67166471
14MP0002734_abnormal_mechanical_nocicepti2.65969328
15MP0001486_abnormal_startle_reflex2.62608479
16MP0001501_abnormal_sleep_pattern2.35764136
17MP0002736_abnormal_nociception_after2.23148278
18MP0002735_abnormal_chemical_nociception2.14334013
19MP0009780_abnormal_chondrocyte_physiolo2.09883662
20MP0004858_abnormal_nervous_system2.04285432
21MP0008569_lethality_at_weaning2.04225379
22MP0001440_abnormal_grooming_behavior2.00883096
23MP0002733_abnormal_thermal_nociception1.97798996
24MP0001970_abnormal_pain_threshold1.97608387
25MP0002909_abnormal_adrenal_gland1.95901224
26MP0002067_abnormal_sensory_capabilities1.86917011
27MP0003329_amyloid_beta_deposits1.85833929
28* MP0004811_abnormal_neuron_physiology1.78854110
29MP0003879_abnormal_hair_cell1.75333532
30MP0002557_abnormal_social/conspecific_i1.70905442
31MP0002184_abnormal_innervation1.67919775
32MP0005646_abnormal_pituitary_gland1.66743687
33MP0005386_behavior/neurological_phenoty1.62075272
34MP0004924_abnormal_behavior1.62075272
35MP0000955_abnormal_spinal_cord1.56137140
36MP0004885_abnormal_endolymph1.52571485
37MP0000778_abnormal_nervous_system1.52102433
38MP0001984_abnormal_olfaction1.49025690
39MP0003633_abnormal_nervous_system1.45216674
40* MP0002066_abnormal_motor_capabilities/c1.39821874
41* MP0002882_abnormal_neuron_morphology1.38494079
42MP0003787_abnormal_imprinting1.37096200
43MP0001502_abnormal_circadian_rhythm1.29330537
44MP0003123_paternal_imprinting1.27544921
45MP0005645_abnormal_hypothalamus_physiol1.24665439
46MP0006276_abnormal_autonomic_nervous1.24502421
47MP0003075_altered_response_to1.21208541
48MP0003631_nervous_system_phenotype1.19329330
49MP0003283_abnormal_digestive_organ1.16765157
50MP0001905_abnormal_dopamine_level1.14673986
51MP0004142_abnormal_muscle_tone1.14452879
52MP0001529_abnormal_vocalization1.14329542
53MP0001348_abnormal_lacrimal_gland1.12269551
54MP0002152_abnormal_brain_morphology1.04598731
55MP0008872_abnormal_physiological_respon1.04163331
56MP0008961_abnormal_basal_metabolism1.00362329
57MP0001177_atelectasis0.98777604
58MP0002229_neurodegeneration0.98056793
59MP0010386_abnormal_urinary_bladder0.97472154
60MP0002069_abnormal_eating/drinking_beha0.96277544
61MP0003690_abnormal_glial_cell0.95220216
62MP0008874_decreased_physiological_sensi0.94895997
63MP0000751_myopathy0.92477888
64MP0000013_abnormal_adipose_tissue0.91114668
65MP0005535_abnormal_body_temperature0.89608881
66MP0005551_abnormal_eye_electrophysiolog0.89095544
67MP0003122_maternal_imprinting0.88642726
68MP0000569_abnormal_digit_pigmentation0.88411669
69MP0003705_abnormal_hypodermis_morpholog0.87821109
70MP0001346_abnormal_lacrimal_gland0.85977161
71MP0004145_abnormal_muscle_electrophysio0.85416164
72MP0005167_abnormal_blood-brain_barrier0.85068327
73MP0004130_abnormal_muscle_cell0.84295343
74MP0003634_abnormal_glial_cell0.84283155
75MP0000604_amyloidosis0.81681907
76MP0000920_abnormal_myelination0.81480887
77MP0002090_abnormal_vision0.81228417
78MP0003632_abnormal_nervous_system0.80433023
79MP0004085_abnormal_heartbeat0.80376584
80MP0004043_abnormal_pH_regulation0.79494464
81MP0001188_hyperpigmentation0.78865652
82MP0010234_abnormal_vibrissa_follicle0.77162395
83MP0001963_abnormal_hearing_physiology0.76442640
84MP0005394_taste/olfaction_phenotype0.75957087
85MP0005499_abnormal_olfactory_system0.75957087
86MP0003172_abnormal_lysosome_physiology0.71526899
87MP0001986_abnormal_taste_sensitivity0.71483224
88MP0004510_myositis0.70311344
89MP0004742_abnormal_vestibular_system0.70287816
90MP0001485_abnormal_pinna_reflex0.69762497
91MP0003045_fibrosis0.67430851
92MP0002752_abnormal_somatic_nervous0.66532222
93MP0001664_abnormal_digestion0.63302529
94MP0004215_abnormal_myocardial_fiber0.61612612
95MP0000631_abnormal_neuroendocrine_gland0.61108168
96MP0002638_abnormal_pupillary_reflex0.60794319
97MP0004233_abnormal_muscle_weight0.60261526
98MP0003137_abnormal_impulse_conducting0.57974406
99MP0004484_altered_response_of0.56343434
100MP0000579_abnormal_nail_morphology0.55899063
101MP0002089_abnormal_postnatal_growth/wei0.55142560
102MP0005409_darkened_coat_color0.55008277
103MP0005623_abnormal_meninges_morphology0.54700631
104MP0003183_abnormal_peptide_metabolism0.54509206
105MP0001958_emphysema0.54382701
106MP0005166_decreased_susceptibility_to0.54258773
107MP0010768_mortality/aging0.52223378
108MP0002249_abnormal_larynx_morphology0.51167551
109MP0001299_abnormal_eye_distance/0.50666218
110MP0010769_abnormal_survival0.50380655
111MP0002837_dystrophic_cardiac_calcinosis0.50125090
112MP0001943_abnormal_respiration0.49941841
113MP0010770_preweaning_lethality0.49670160
114MP0002082_postnatal_lethality0.49670160
115MP0003861_abnormal_nervous_system0.49615007
116MP0003956_abnormal_body_size0.49568346
117MP0000747_muscle_weakness0.49547662
118MP0001765_abnormal_ion_homeostasis0.47351782
119MP0004147_increased_porphyrin_level0.46764169
120MP0002873_normal_phenotype0.46161820

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.02319518
2Focal motor seizures (HP:0011153)7.79019440
3Focal seizures (HP:0007359)5.82254707
4Visual hallucinations (HP:0002367)5.47568095
5Epileptic encephalopathy (HP:0200134)4.68102324
6Atonic seizures (HP:0010819)4.53548604
7Febrile seizures (HP:0002373)4.52109222
8Action tremor (HP:0002345)4.41032353
9Progressive cerebellar ataxia (HP:0002073)4.37593643
10Absence seizures (HP:0002121)4.15971910
11Generalized tonic-clonic seizures (HP:0002069)4.01903168
12Supranuclear gaze palsy (HP:0000605)3.85536616
13Ankle clonus (HP:0011448)3.82001333
14Dialeptic seizures (HP:0011146)3.78760202
15Impaired vibration sensation in the lower limbs (HP:0002166)3.62949275
16Depression (HP:0000716)3.53034104
17Poor eye contact (HP:0000817)3.41120181
18Gaze-evoked nystagmus (HP:0000640)3.40279134
19Dysdiadochokinesis (HP:0002075)3.39201817
20Dysmetria (HP:0001310)3.31536115
21Postural instability (HP:0002172)3.30536352
22Urinary bladder sphincter dysfunction (HP:0002839)3.27660124
23Broad-based gait (HP:0002136)3.27144834
24Papilledema (HP:0001085)3.25934764
25Anxiety (HP:0000739)3.24391514
26Abnormality of the lower motor neuron (HP:0002366)3.18847916
27Abnormal social behavior (HP:0012433)3.09774241
28Impaired social interactions (HP:0000735)3.09774241
29Abnormal eating behavior (HP:0100738)3.01750030
30Truncal ataxia (HP:0002078)3.01665491
31Mutism (HP:0002300)3.00447556
32Torticollis (HP:0000473)2.94650059
33Ventricular fibrillation (HP:0001663)2.91829668
34Amblyopia (HP:0000646)2.91736860
35Cerebral hypomyelination (HP:0006808)2.87880887
36Impaired smooth pursuit (HP:0007772)2.86061642
37Urinary urgency (HP:0000012)2.84637262
38Akinesia (HP:0002304)2.82471208
39Annular pancreas (HP:0001734)2.79354192
40Intention tremor (HP:0002080)2.78487324
41Focal dystonia (HP:0004373)2.77430727
42Hemiplegia (HP:0002301)2.76099212
43Genetic anticipation (HP:0003743)2.71805280
44Spastic gait (HP:0002064)2.71037700
45Hemiparesis (HP:0001269)2.70467744
46Peripheral hypomyelination (HP:0007182)2.68572465
47Megalencephaly (HP:0001355)2.68294205
48Bradykinesia (HP:0002067)2.67026413
49Stereotypic behavior (HP:0000733)2.54409327
50Scanning speech (HP:0002168)2.54063507
51Sleep apnea (HP:0010535)2.52954883
52Hyperventilation (HP:0002883)2.50347509
53Abnormality of binocular vision (HP:0011514)2.50092968
54Diplopia (HP:0000651)2.50092968
55Impaired vibratory sensation (HP:0002495)2.49793816
56Abnormality of ocular smooth pursuit (HP:0000617)2.49319197
57Neurofibrillary tangles (HP:0002185)2.47803392
58Craniofacial dystonia (HP:0012179)2.44183363
59Dysmetric saccades (HP:0000641)2.40062833
60Cerebral inclusion bodies (HP:0100314)2.38823010
61Epileptiform EEG discharges (HP:0011182)2.38031801
62Progressive inability to walk (HP:0002505)2.36880648
63Excessive salivation (HP:0003781)2.36690870
64Drooling (HP:0002307)2.36690870
65Bundle branch block (HP:0011710)2.35762931
66Diminished motivation (HP:0000745)2.34807109
67Status epilepticus (HP:0002133)2.32282710
68EEG with generalized epileptiform discharges (HP:0011198)2.30161354
69Pointed chin (HP:0000307)2.29825709
70Lower limb muscle weakness (HP:0007340)2.25874562
71Insomnia (HP:0100785)2.24821722
72Fetal akinesia sequence (HP:0001989)2.24199048
73Upper limb amyotrophy (HP:0009129)2.22931263
74Distal upper limb amyotrophy (HP:0007149)2.22931263
75Hypsarrhythmia (HP:0002521)2.18397813
76Termporal pattern (HP:0011008)2.11935402
77Insidious onset (HP:0003587)2.11935402
78Clonus (HP:0002169)2.10516530
79Pheochromocytoma (HP:0002666)2.08552904
80Resting tremor (HP:0002322)2.07742696
81Spastic tetraparesis (HP:0001285)2.07717745
82Hand muscle atrophy (HP:0009130)2.06831731
83Generalized myoclonic seizures (HP:0002123)2.04411360
84Incomplete penetrance (HP:0003829)2.02322479
85Obstructive sleep apnea (HP:0002870)2.00722081
86Absent speech (HP:0001344)2.00466847
87Abnormal EKG (HP:0003115)1.98122507
88Gait ataxia (HP:0002066)1.97690297
89Lower limb asymmetry (HP:0100559)1.96647322
90Abnormality of saccadic eye movements (HP:0000570)1.95065088
91Neuronal loss in central nervous system (HP:0002529)1.94638126
92Rigidity (HP:0002063)1.93812436
93Agitation (HP:0000713)1.93586474
94Limb dystonia (HP:0002451)1.90862414
95Delusions (HP:0000746)1.89636202
96Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.88884406
97Rapidly progressive (HP:0003678)1.87067632
98Bronchomalacia (HP:0002780)1.85645683
99Ankyloglossia (HP:0010296)1.85280142
100Choreoathetosis (HP:0001266)1.83985776
101Aplasia involving bones of the extremities (HP:0009825)1.83774874
102Aplasia involving bones of the upper limbs (HP:0009823)1.83774874
103Aplasia of the phalanges of the hand (HP:0009802)1.83774874
104Abnormality of the corticospinal tract (HP:0002492)1.82932686
105Lower limb amyotrophy (HP:0007210)1.81988289
106Spinal canal stenosis (HP:0003416)1.80474174
107Heart block (HP:0012722)1.77696717
108Slow progression (HP:0003677)1.77573832
109Abnormality of the periventricular white matter (HP:0002518)1.76218037
110Inability to walk (HP:0002540)1.75071964
111Psychosis (HP:0000709)1.74979424
112Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.74047055
113Degeneration of the lateral corticospinal tracts (HP:0002314)1.74047055
114Slow saccadic eye movements (HP:0000514)1.73758535
115Abnormal atrioventricular conduction (HP:0005150)1.73651967
116Apathy (HP:0000741)1.72572250
117Anosmia (HP:0000458)1.71861848
118Neuroendocrine neoplasm (HP:0100634)1.71769184
119Tetraplegia (HP:0002445)1.71580172
120Distal sensory impairment (HP:0002936)1.71455326
121Morphological abnormality of the pyramidal tract (HP:0002062)1.70574996
122CNS hypomyelination (HP:0003429)1.70360447
123Polyphagia (HP:0002591)1.69684637
124Increased circulating renin level (HP:0000848)1.69157351
125Dementia (HP:0000726)1.68723010

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.83905568
2NTRK34.55581181
3MAP3K94.08969289
4PRKD32.88887370
5DAPK22.79463076
6MAP3K42.72471843
7MINK12.71576425
8KSR22.51174737
9MARK12.45547299
10PAK62.42672390
11CAMKK12.21805068
12MAP2K72.13037960
13NTRK12.07378971
14NTRK21.91917355
15RIPK41.81305788
16MAP2K41.73016544
17STK381.65666788
18ARAF1.62172171
19MAP3K121.60835038
20DAPK11.60520939
21CDK51.60372160
22PRPF4B1.54403598
23KSR11.52976545
24MAP3K131.44891506
25MAP3K21.43275223
26TNIK1.36078045
27GRK51.33665369
28FES1.29856493
29TYRO31.27117952
30TAOK11.21850340
31CDK191.21658948
32SIK21.21642261
33PRKCG1.19892442
34PLK21.17171252
35CAMKK21.16750960
36UHMK11.11598154
37CAMK11.07448912
38MAPK121.06539699
39PINK11.05398781
40MAPK131.04956583
41PRKCH0.98811477
42TRIB30.95941278
43LMTK20.95527783
44RAF10.94255238
45PHKG10.94204782
46PHKG20.94204782
47STK110.93918250
48SGK4940.93041881
49SGK2230.93041881
50TESK10.91580096
51CDK150.89650420
52CAMK2A0.89287123
53CASK0.89271306
54CDK180.89270030
55MAP3K110.87151460
56RET0.86289336
57PNCK0.86083032
58ALK0.84623992
59CDK140.84528045
60LATS20.83879758
61PTK2B0.81781714
62LIMK10.81469976
63MAP3K10.80221718
64CDK11A0.77901155
65PDK10.77014424
66PAK30.76674687
67SGK30.76274402
68SGK20.76187992
69CAMK2B0.74742879
70MARK20.71699716
71PDPK10.70909716
72SGK10.67899639
73BMPR20.65389274
74TNK20.64620682
75PKN10.64355277
76BRSK10.63360144
77RIPK10.63086654
78DYRK1A0.62672779
79MAP3K70.61080539
80NEK10.60422725
81OXSR10.56294595
82NEK60.56285774
83ROCK20.55732016
84PRKG20.54614801
85PTK20.53965501
86CDC42BPA0.53822382
87CAMK40.53670262
88ICK0.53372755
89NME10.50522547
90TAOK20.49586678
91* RPS6KA30.49144625
92WNK10.48280861
93PRKCZ0.48080334
94CAMK1G0.46745951
95CSNK1G20.46405815
96MAP2K10.44164267
97PDGFRA0.44040810
98FYN0.43576818
99CAMK2G0.43239891
100ERBB20.42618010
101CAMK2D0.42607939
102DAPK30.42037027
103ROCK10.40988287
104SCYL20.40978946
105MAP2K60.39621035
106PRKCE0.39541673
107* MAPK100.37945119
108FER0.37429900
109DMPK0.36966535
110DDR20.36417931
111BRAF0.36230999
112RPS6KA20.35959357
113MOS0.32569784
114MAPK80.32316998
115PRKD20.31092846
116PRKCB0.30715091
117FGR0.29825177
118PRKD10.29669232
119PRKCA0.29072771
120SRC0.27547028
121FGFR20.27456522

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.40454096
2Synaptic vesicle cycle_Homo sapiens_hsa047213.32374848
3Olfactory transduction_Homo sapiens_hsa047403.00074818
4Circadian entrainment_Homo sapiens_hsa047132.73780942
5Long-term potentiation_Homo sapiens_hsa047202.67208831
6GABAergic synapse_Homo sapiens_hsa047272.65480824
7Glutamatergic synapse_Homo sapiens_hsa047242.57668175
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55383535
9Amphetamine addiction_Homo sapiens_hsa050312.47131353
10Morphine addiction_Homo sapiens_hsa050322.45837374
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.32157284
12Salivary secretion_Homo sapiens_hsa049702.20271780
13Insulin secretion_Homo sapiens_hsa049112.19262177
14Dopaminergic synapse_Homo sapiens_hsa047282.13900090
15Gastric acid secretion_Homo sapiens_hsa049711.98028522
16Cholinergic synapse_Homo sapiens_hsa047251.97928801
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94866861
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72782662
19Nitrogen metabolism_Homo sapiens_hsa009101.68269528
20Oxytocin signaling pathway_Homo sapiens_hsa049211.67223141
21Cocaine addiction_Homo sapiens_hsa050301.63791254
22Taste transduction_Homo sapiens_hsa047421.61383601
23Renin secretion_Homo sapiens_hsa049241.60949170
24Calcium signaling pathway_Homo sapiens_hsa040201.59662466
25Long-term depression_Homo sapiens_hsa047301.59300395
26GnRH signaling pathway_Homo sapiens_hsa049121.51234764
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50926427
28Serotonergic synapse_Homo sapiens_hsa047261.48340310
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.44539956
30Vitamin B6 metabolism_Homo sapiens_hsa007501.33476650
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33117662
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31370000
33Gap junction_Homo sapiens_hsa045401.31250359
34Type II diabetes mellitus_Homo sapiens_hsa049301.29455171
35cAMP signaling pathway_Homo sapiens_hsa040241.29306612
36Glioma_Homo sapiens_hsa052141.23118810
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.21437399
38Collecting duct acid secretion_Homo sapiens_hsa049661.21424779
39Estrogen signaling pathway_Homo sapiens_hsa049151.15354041
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05190105
41ErbB signaling pathway_Homo sapiens_hsa040121.02112297
42Melanogenesis_Homo sapiens_hsa049161.01491604
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97008054
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.94911769
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.94254134
46Pancreatic secretion_Homo sapiens_hsa049720.91986402
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.90845477
48Axon guidance_Homo sapiens_hsa043600.90151881
49Dorso-ventral axis formation_Homo sapiens_hsa043200.88966636
50Oocyte meiosis_Homo sapiens_hsa041140.88243624
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85998186
52Cardiac muscle contraction_Homo sapiens_hsa042600.85235866
53Thyroid hormone synthesis_Homo sapiens_hsa049180.85148620
54Vibrio cholerae infection_Homo sapiens_hsa051100.81124282
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79927782
56Choline metabolism in cancer_Homo sapiens_hsa052310.74010672
57Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73608111
58Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.73236633
59Dilated cardiomyopathy_Homo sapiens_hsa054140.69564856
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68896657
61VEGF signaling pathway_Homo sapiens_hsa043700.68621036
62Phototransduction_Homo sapiens_hsa047440.68220727
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.67351918
64MAPK signaling pathway_Homo sapiens_hsa040100.67137028
65Glucagon signaling pathway_Homo sapiens_hsa049220.62154409
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60970800
67Bile secretion_Homo sapiens_hsa049760.60382267
68Type I diabetes mellitus_Homo sapiens_hsa049400.60370661
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59871926
70mTOR signaling pathway_Homo sapiens_hsa041500.58105397
71Endocytosis_Homo sapiens_hsa041440.57741986
72Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57044254
73Rap1 signaling pathway_Homo sapiens_hsa040150.56723160
74Ras signaling pathway_Homo sapiens_hsa040140.54887371
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.54421429
76Inositol phosphate metabolism_Homo sapiens_hsa005620.53963431
77Circadian rhythm_Homo sapiens_hsa047100.52720804
78Non-small cell lung cancer_Homo sapiens_hsa052230.49611710
79Alcoholism_Homo sapiens_hsa050340.48753136
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47088788
81Endometrial cancer_Homo sapiens_hsa052130.43760001
82Prion diseases_Homo sapiens_hsa050200.43660653
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43039809
84Insulin signaling pathway_Homo sapiens_hsa049100.42458229
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41206304
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.39884536
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.39594886
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38577646
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38423945
90Arginine and proline metabolism_Homo sapiens_hsa003300.37357945
91Chemokine signaling pathway_Homo sapiens_hsa040620.36955880
92Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.36044870
93Renal cell carcinoma_Homo sapiens_hsa052110.35784182
94AMPK signaling pathway_Homo sapiens_hsa041520.35596677
95Ovarian steroidogenesis_Homo sapiens_hsa049130.34435898
96Tight junction_Homo sapiens_hsa045300.34269829
97HIF-1 signaling pathway_Homo sapiens_hsa040660.34258743
98SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34186183
99Wnt signaling pathway_Homo sapiens_hsa043100.33765430
100Focal adhesion_Homo sapiens_hsa045100.32950078
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32478131
102Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32107438
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.32078197
104Hippo signaling pathway_Homo sapiens_hsa043900.32010572
105African trypanosomiasis_Homo sapiens_hsa051430.31442208
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.28502892
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.28231579
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28094660
109Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25296929
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.25086674
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24942573

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