SYN1

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 is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.80569354
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.64975840
3locomotory exploration behavior (GO:0035641)6.06375960
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.94906203
5synaptic vesicle exocytosis (GO:0016079)5.87904017
6glutamate secretion (GO:0014047)5.86152761
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.72227669
8vocalization behavior (GO:0071625)5.42774032
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.26918245
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.23329317
11* regulation of synaptic vesicle exocytosis (GO:2000300)5.02536632
12regulation of glutamate receptor signaling pathway (GO:1900449)4.98260720
13protein localization to synapse (GO:0035418)4.84146496
14exploration behavior (GO:0035640)4.77163690
15cerebellar granule cell differentiation (GO:0021707)4.73816985
16regulation of neuronal synaptic plasticity (GO:0048168)4.70454245
17neuronal action potential propagation (GO:0019227)4.67726121
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.58841688
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.56830372
20* neurotransmitter secretion (GO:0007269)4.53787362
21* regulation of synaptic vesicle transport (GO:1902803)4.53558603
22layer formation in cerebral cortex (GO:0021819)4.50160692
23amino acid import (GO:0043090)4.43836245
24neuron cell-cell adhesion (GO:0007158)4.40968079
25potassium ion homeostasis (GO:0055075)4.37765065
26central nervous system myelination (GO:0022010)4.32717219
27axon ensheathment in central nervous system (GO:0032291)4.32717219
28regulation of synapse structural plasticity (GO:0051823)4.25174950
29dendritic spine morphogenesis (GO:0060997)4.21086495
30proline transport (GO:0015824)4.20977432
31potassium ion import (GO:0010107)4.13609372
32synaptic transmission, glutamatergic (GO:0035249)4.12521667
33regulation of voltage-gated calcium channel activity (GO:1901385)4.11348357
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.08994019
35cellular potassium ion homeostasis (GO:0030007)4.08086641
36glutamate receptor signaling pathway (GO:0007215)3.99423193
37gamma-aminobutyric acid transport (GO:0015812)3.95233274
38regulation of synapse maturation (GO:0090128)3.94344473
39sodium ion export (GO:0071436)3.88630149
40positive regulation of membrane potential (GO:0045838)3.87985965
41long-term memory (GO:0007616)3.85996161
42neuron-neuron synaptic transmission (GO:0007270)3.82642576
43positive regulation of dendritic spine morphogenesis (GO:0061003)3.82527290
44negative regulation of dendrite morphogenesis (GO:0050774)3.78271912
45neurotransmitter-gated ion channel clustering (GO:0072578)3.77181053
46regulation of excitatory postsynaptic membrane potential (GO:0060079)3.76714901
47activation of protein kinase A activity (GO:0034199)3.70085155
48regulation of synaptic plasticity (GO:0048167)3.69853457
49* neurotransmitter transport (GO:0006836)3.65855251
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.65139507
51cellular sodium ion homeostasis (GO:0006883)3.65135303
52regulation of postsynaptic membrane potential (GO:0060078)3.60773529
53synaptic vesicle endocytosis (GO:0048488)3.59064066
54neuromuscular process controlling posture (GO:0050884)3.58812383
55neuromuscular process controlling balance (GO:0050885)3.52317811
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.51935648
57neuron recognition (GO:0008038)3.51729443
58positive regulation of synapse maturation (GO:0090129)3.49174539
59cerebellar Purkinje cell differentiation (GO:0021702)3.47502349
60regulation of dendritic spine morphogenesis (GO:0061001)3.44981140
61regulation of vesicle fusion (GO:0031338)3.43672360
62cell communication by electrical coupling (GO:0010644)3.39980493
63* regulation of neurotransmitter secretion (GO:0046928)3.38930187
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.38528507
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.36809907
66* regulation of neurotransmitter levels (GO:0001505)3.36539114
67long-term synaptic potentiation (GO:0060291)3.36314134
68acidic amino acid transport (GO:0015800)3.34365414
69neurotransmitter uptake (GO:0001504)3.32771050
70positive regulation of synaptic transmission, GABAergic (GO:0032230)3.32683008
71glycine transport (GO:0015816)3.30823668
72axonal fasciculation (GO:0007413)3.27898634
73neuromuscular synaptic transmission (GO:0007274)3.26546200
74chemosensory behavior (GO:0007635)3.26300208
75establishment of synaptic vesicle localization (GO:0097480)3.24781502
76synaptic vesicle transport (GO:0048489)3.24781502
77transmission of nerve impulse (GO:0019226)3.24034987
78dendrite morphogenesis (GO:0048813)3.23480959
79vesicle transport along microtubule (GO:0047496)3.22916405
80positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.22878375
81gamma-aminobutyric acid signaling pathway (GO:0007214)3.20630926
82vesicle docking involved in exocytosis (GO:0006904)3.20501927
83postsynaptic membrane organization (GO:0001941)3.19430920
84innervation (GO:0060384)3.18425073
85membrane depolarization during action potential (GO:0086010)3.17795570
86G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.17783918
87regulation of ARF protein signal transduction (GO:0032012)3.15834680
88positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.14935886
89regulation of synaptic transmission, glutamatergic (GO:0051966)3.14691389
90negative regulation of synaptic transmission, GABAergic (GO:0032229)3.14100779
91cell differentiation in hindbrain (GO:0021533)3.13883462
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.13535177
93cytoskeletal anchoring at plasma membrane (GO:0007016)3.13360392
94membrane depolarization (GO:0051899)3.13065145
95positive regulation of neurotransmitter secretion (GO:0001956)3.13043642
96dendritic spine organization (GO:0097061)3.09915746
97* regulation of neurotransmitter transport (GO:0051588)3.09246895
98response to auditory stimulus (GO:0010996)3.08067171
99regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.07238623
100detection of calcium ion (GO:0005513)3.07073624
101auditory behavior (GO:0031223)3.05256165
102cell communication involved in cardiac conduction (GO:0086065)3.04535978
103positive regulation of neurotransmitter transport (GO:0051590)3.04376025
104positive regulation of dendritic spine development (GO:0060999)3.02587923
105cell migration in hindbrain (GO:0021535)3.02422728
106membrane hyperpolarization (GO:0060081)3.02077614
107dicarboxylic acid transport (GO:0006835)3.01849724
108intraspecies interaction between organisms (GO:0051703)3.01120571
109social behavior (GO:0035176)3.01120571
110* regulation of synaptic transmission (GO:0050804)3.00170853
111neuronal ion channel clustering (GO:0045161)3.00075196
112neuromuscular process (GO:0050905)2.99894925
113learning (GO:0007612)2.99630813
114positive regulation of synaptic transmission (GO:0050806)2.99189556
115regulation of dendritic spine development (GO:0060998)2.99070630
116organelle transport along microtubule (GO:0072384)2.95515237
117* synaptic transmission (GO:0007268)2.95320669
118negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94779951
119regulation of calcium ion-dependent exocytosis (GO:0017158)2.93826424
120cerebellar Purkinje cell layer development (GO:0021680)2.92876904
121L-amino acid import (GO:0043092)2.92267708
122behavioral defense response (GO:0002209)2.91769096

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.27789982
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17084955
3GBX2_23144817_ChIP-Seq_PC3_Human3.16458679
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10369337
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03405525
6REST_21632747_ChIP-Seq_MESCs_Mouse2.90521494
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80070731
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80070731
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.76228127
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.70963453
11DROSHA_22980978_ChIP-Seq_HELA_Human2.66332841
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61247097
13THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.60732570
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59768364
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59395113
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52683911
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.47556317
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45531721
19REST_18959480_ChIP-ChIP_MESCs_Mouse2.41487752
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34940336
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.31506236
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.23824786
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.21761127
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.19015060
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.18623875
26EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.17566227
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.16289232
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.13100320
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91565644
30AR_21572438_ChIP-Seq_LNCaP_Human1.87647284
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74703788
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.66655278
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57516210
34SMAD4_21799915_ChIP-Seq_A2780_Human1.53019227
35* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49276576
36RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44864969
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42646132
38DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39927306
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.37086795
40ZNF274_21170338_ChIP-Seq_K562_Hela1.37061261
41NR3C1_23031785_ChIP-Seq_PC12_Mouse1.35469055
42TAF15_26573619_Chip-Seq_HEK293_Human1.28917204
43* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.28606119
44KDM2B_26808549_Chip-Seq_K562_Human1.28251896
45SOX2_21211035_ChIP-Seq_LN229_Gbm1.27747251
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25058500
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24536759
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23373961
49ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22285901
50AR_19668381_ChIP-Seq_PC3_Human1.21353806
51SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20408467
52WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20185692
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20052058
54* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19988647
55AR_25329375_ChIP-Seq_VCAP_Human1.16221523
56PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16198532
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15553278
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.14860918
59TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.14854213
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.13497758
61P300_19829295_ChIP-Seq_ESCs_Human1.13389062
62STAT3_23295773_ChIP-Seq_U87_Human1.12291417
63SMAD3_21741376_ChIP-Seq_EPCs_Human1.11821460
64LXR_22292898_ChIP-Seq_THP-1_Human1.10596565
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.09815782
66ZFP57_27257070_Chip-Seq_ESCs_Mouse1.08920019
67RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.06997431
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06898588
69CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.06600629
70KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06384496
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06170880
72* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05398247
73OCT4_19829295_ChIP-Seq_ESCs_Human1.02639719
74TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02541944
75ESR2_21235772_ChIP-Seq_MCF-7_Human1.02253580
76TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01679067
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01502610
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01501367
79YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01140549
80CBX2_27304074_Chip-Seq_ESCs_Mouse0.99691972
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99437448
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98853238
83BMI1_23680149_ChIP-Seq_NPCS_Mouse0.97735545
84SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96696824
85TET1_21490601_ChIP-Seq_MESCs_Mouse0.96606546
86TCF4_23295773_ChIP-Seq_U87_Human0.96311064
87DPY_21335234_ChIP-Seq_ESCs_Mouse0.96239899
88ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95122705
89SMAD3_21741376_ChIP-Seq_ESCs_Human0.95051549
90RNF2_27304074_Chip-Seq_NSC_Mouse0.94284521
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.93694611
92ARNT_22903824_ChIP-Seq_MCF-7_Human0.93401836
93SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92752065
94SMC4_20622854_ChIP-Seq_HELA_Human0.92659689
95TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91936094
96MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91351730
97ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90840189
98IGF1R_20145208_ChIP-Seq_DFB_Human0.90624524
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90481829
100AHR_22903824_ChIP-Seq_MCF-7_Human0.90272646
101CTCF_27219007_Chip-Seq_Bcells_Human0.90080307
102PIAS1_25552417_ChIP-Seq_VCAP_Human0.89652737
103VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89304165
104PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89215336
105SRY_22984422_ChIP-ChIP_TESTIS_Rat0.88921570
106GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88722279
107RXR_22108803_ChIP-Seq_LS180_Human0.87993874
108KLF4_19829295_ChIP-Seq_ESCs_Human0.87827434
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.86702891
110PRDM14_20953172_ChIP-Seq_ESCs_Human0.86563451
111* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85466789
112CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83079565
113NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83032477
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82962111
115RUNX2_22187159_ChIP-Seq_PCA_Human0.82437365
116EGR1_19032775_ChIP-ChIP_M12_Human0.81071052
117SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80948515
118PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.80592178
119TP53_20018659_ChIP-ChIP_R1E_Mouse0.80544375
120DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80180110
121CREB1_26743006_Chip-Seq_LNCaP_Human0.79957611
122TP53_16413492_ChIP-PET_HCT116_Human0.79850512
123OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.79406750
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.78841869
125TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77728508
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76852885
127MYC_19915707_ChIP-ChIP_AK7_Human0.74426570
128RUNX1_26923725_Chip-Seq_HPCs_Mouse0.73715437
129KDM2B_26808549_Chip-Seq_DND41_Human0.73240774
130P68_20966046_ChIP-Seq_HELA_Human0.73011024
131EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.72908107
132GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.69039595

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.05918240
2MP0003880_abnormal_central_pattern4.71264473
3* MP0003635_abnormal_synaptic_transmissio4.26591902
4MP0004270_analgesia4.06606115
5MP0002063_abnormal_learning/memory/cond3.40211624
6MP0009745_abnormal_behavioral_response3.37289107
7MP0001968_abnormal_touch/_nociception3.22509605
8* MP0002064_seizures3.16831327
9MP0009046_muscle_twitch3.08878491
10MP0005423_abnormal_somatic_nervous2.91925628
11MP0002734_abnormal_mechanical_nocicepti2.81254062
12MP0002572_abnormal_emotion/affect_behav2.78308618
13MP0002272_abnormal_nervous_system2.61150940
14MP0001486_abnormal_startle_reflex2.50906416
15MP0002735_abnormal_chemical_nociception2.38358137
16MP0002736_abnormal_nociception_after2.34832534
17MP0002822_catalepsy2.30995532
18MP0001501_abnormal_sleep_pattern2.27259038
19MP0002733_abnormal_thermal_nociception2.26865080
20MP0004858_abnormal_nervous_system2.12520232
21MP0001970_abnormal_pain_threshold2.11266190
22MP0001440_abnormal_grooming_behavior2.10253973
23MP0003329_amyloid_beta_deposits2.06536027
24MP0009780_abnormal_chondrocyte_physiolo1.97341796
25MP0002067_abnormal_sensory_capabilities1.93680394
26MP0008569_lethality_at_weaning1.91903128
27* MP0004811_abnormal_neuron_physiology1.86681787
28MP0002909_abnormal_adrenal_gland1.84480264
29MP0002184_abnormal_innervation1.82875895
30MP0006276_abnormal_autonomic_nervous1.78836497
31MP0000778_abnormal_nervous_system1.74906969
32MP0002557_abnormal_social/conspecific_i1.74136925
33MP0005386_behavior/neurological_phenoty1.69620200
34MP0004924_abnormal_behavior1.69620200
35MP0000955_abnormal_spinal_cord1.62006108
36MP0003879_abnormal_hair_cell1.59936016
37MP0001984_abnormal_olfaction1.59063022
38MP0005646_abnormal_pituitary_gland1.56388468
39MP0005645_abnormal_hypothalamus_physiol1.52057832
40MP0003122_maternal_imprinting1.51885142
41MP0002066_abnormal_motor_capabilities/c1.44208347
42MP0003787_abnormal_imprinting1.44148589
43* MP0002882_abnormal_neuron_morphology1.42245132
44MP0003633_abnormal_nervous_system1.41676069
45MP0004885_abnormal_endolymph1.40516754
46MP0001502_abnormal_circadian_rhythm1.28439262
47MP0004142_abnormal_muscle_tone1.22148898
48MP0003631_nervous_system_phenotype1.18291835
49MP0001905_abnormal_dopamine_level1.15313394
50MP0000569_abnormal_digit_pigmentation1.11522550
51MP0008961_abnormal_basal_metabolism1.10550004
52* MP0002152_abnormal_brain_morphology1.07304609
53MP0008872_abnormal_physiological_respon1.06035276
54MP0003283_abnormal_digestive_organ0.99016136
55MP0003075_altered_response_to0.97707108
56MP0001529_abnormal_vocalization0.97656462
57MP0002069_abnormal_eating/drinking_beha0.97506044
58MP0002229_neurodegeneration0.96115187
59MP0000604_amyloidosis0.95518062
60MP0000751_myopathy0.93987248
61MP0008874_decreased_physiological_sensi0.93851775
62MP0004145_abnormal_muscle_electrophysio0.92734234
63MP0010386_abnormal_urinary_bladder0.88440893
64MP0004147_increased_porphyrin_level0.87319944
65MP0001485_abnormal_pinna_reflex0.85695509
66MP0003634_abnormal_glial_cell0.85623294
67MP0008877_abnormal_DNA_methylation0.85239783
68MP0003690_abnormal_glial_cell0.84940955
69MP0005535_abnormal_body_temperature0.84832086
70MP0000013_abnormal_adipose_tissue0.83479277
71MP0003632_abnormal_nervous_system0.82078199
72MP0000920_abnormal_myelination0.81952105
73MP0001986_abnormal_taste_sensitivity0.81285315
74MP0003172_abnormal_lysosome_physiology0.81023305
75MP0001177_atelectasis0.80236351
76MP0001346_abnormal_lacrimal_gland0.80109786
77MP0004742_abnormal_vestibular_system0.78052171
78MP0005551_abnormal_eye_electrophysiolog0.76543726
79MP0004085_abnormal_heartbeat0.76346576
80MP0001963_abnormal_hearing_physiology0.72728093
81MP0005394_taste/olfaction_phenotype0.70989777
82MP0005499_abnormal_olfactory_system0.70989777
83MP0002752_abnormal_somatic_nervous0.69059783
84MP0002837_dystrophic_cardiac_calcinosis0.68493688
85MP0001188_hyperpigmentation0.66965967
86MP0004130_abnormal_muscle_cell0.66960034
87MP0002090_abnormal_vision0.66609740
88MP0003121_genomic_imprinting0.66607298
89MP0004510_myositis0.65600271
90MP0000631_abnormal_neuroendocrine_gland0.64480317
91MP0005167_abnormal_blood-brain_barrier0.62895886
92MP0005623_abnormal_meninges_morphology0.62530025
93MP0002638_abnormal_pupillary_reflex0.61975101
94MP0004233_abnormal_muscle_weight0.60165116
95MP0001664_abnormal_digestion0.59494169
96MP0004484_altered_response_of0.59038572
97MP0004215_abnormal_myocardial_fiber0.58868489
98MP0001299_abnormal_eye_distance/0.58557678
99MP0010234_abnormal_vibrissa_follicle0.57299465
100MP0003137_abnormal_impulse_conducting0.56613077
101MP0001943_abnormal_respiration0.53774688
102MP0010769_abnormal_survival0.53634464
103MP0010768_mortality/aging0.52706452
104MP0005166_decreased_susceptibility_to0.52504658
105MP0000579_abnormal_nail_morphology0.52103448
106MP0001348_abnormal_lacrimal_gland0.51587320
107MP0003123_paternal_imprinting0.51517183
108MP0003956_abnormal_body_size0.51497349
109MP0002082_postnatal_lethality0.51461265
110* MP0003861_abnormal_nervous_system0.50896401
111MP0010770_preweaning_lethality0.50715187
112MP0005409_darkened_coat_color0.47775315
113MP0000026_abnormal_inner_ear0.45906266
114MP0002089_abnormal_postnatal_growth/wei0.45676988
115MP0002873_normal_phenotype0.44719421
116MP0002169_no_abnormal_phenotype0.43210257

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.36614614
2Focal motor seizures (HP:0011153)7.33966799
3Visual hallucinations (HP:0002367)5.61869716
4* Focal seizures (HP:0007359)5.36011018
5Epileptic encephalopathy (HP:0200134)4.77930782
6Progressive cerebellar ataxia (HP:0002073)4.60157229
7Atonic seizures (HP:0010819)4.45328042
8Febrile seizures (HP:0002373)4.25719956
9Action tremor (HP:0002345)4.21591088
10Supranuclear gaze palsy (HP:0000605)4.18394356
11Absence seizures (HP:0002121)4.15873951
12Generalized tonic-clonic seizures (HP:0002069)3.92937487
13Dialeptic seizures (HP:0011146)3.78490916
14Ankle clonus (HP:0011448)3.77691602
15Cerebral hypomyelination (HP:0006808)3.73652261
16Papilledema (HP:0001085)3.57974353
17Poor eye contact (HP:0000817)3.48230669
18Depression (HP:0000716)3.47689213
19Impaired vibration sensation in the lower limbs (HP:0002166)3.46990796
20Mutism (HP:0002300)3.43610317
21Tetraplegia (HP:0002445)3.42788932
22Broad-based gait (HP:0002136)3.33570465
23Urinary bladder sphincter dysfunction (HP:0002839)3.22046885
24Postural instability (HP:0002172)3.21256668
25Abnormal eating behavior (HP:0100738)3.20697797
26Dysmetria (HP:0001310)3.14318102
27Abnormal social behavior (HP:0012433)3.13979132
28Impaired social interactions (HP:0000735)3.13979132
29Gaze-evoked nystagmus (HP:0000640)3.12426167
30Dysdiadochokinesis (HP:0002075)3.06096196
31Anxiety (HP:0000739)3.05762611
32Truncal ataxia (HP:0002078)2.98543461
33Genetic anticipation (HP:0003743)2.97165478
34Abnormality of the lower motor neuron (HP:0002366)2.94219460
35Amblyopia (HP:0000646)2.92282730
36Urinary urgency (HP:0000012)2.88667149
37Torticollis (HP:0000473)2.81533930
38Hyperventilation (HP:0002883)2.76995064
39Spastic gait (HP:0002064)2.75813128
40Ventricular fibrillation (HP:0001663)2.72000228
41Impaired smooth pursuit (HP:0007772)2.71405615
42Peripheral hypomyelination (HP:0007182)2.69872743
43Neurofibrillary tangles (HP:0002185)2.67793118
44Focal dystonia (HP:0004373)2.65976445
45Cerebral inclusion bodies (HP:0100314)2.60077210
46Bradykinesia (HP:0002067)2.58701052
47Intention tremor (HP:0002080)2.55399772
48Drooling (HP:0002307)2.55105171
49Excessive salivation (HP:0003781)2.55105171
50Termporal pattern (HP:0011008)2.54735613
51Insidious onset (HP:0003587)2.54735613
52Scanning speech (HP:0002168)2.51892676
53Stereotypic behavior (HP:0000733)2.48951118
54Hemiparesis (HP:0001269)2.48914010
55Hemiplegia (HP:0002301)2.48013267
56Progressive inability to walk (HP:0002505)2.47368619
57Epileptiform EEG discharges (HP:0011182)2.45249859
58Pheochromocytoma (HP:0002666)2.42239496
59Polyphagia (HP:0002591)2.40743155
60Diplopia (HP:0000651)2.40490671
61Abnormality of binocular vision (HP:0011514)2.40490671
62Spastic tetraparesis (HP:0001285)2.39889518
63EEG with generalized epileptiform discharges (HP:0011198)2.38829817
64Diminished motivation (HP:0000745)2.38675427
65Abnormality of ocular smooth pursuit (HP:0000617)2.37728083
66Megalencephaly (HP:0001355)2.36699149
67Agitation (HP:0000713)2.36153737
68Choreoathetosis (HP:0001266)2.34752573
69Limb dystonia (HP:0002451)2.32913992
70Craniofacial dystonia (HP:0012179)2.32310762
71Abnormality of the corticospinal tract (HP:0002492)2.31922819
72Status epilepticus (HP:0002133)2.31052088
73CNS hypomyelination (HP:0003429)2.30064230
74Insomnia (HP:0100785)2.29714988
75Hypsarrhythmia (HP:0002521)2.29410574
76Impaired vibratory sensation (HP:0002495)2.28816105
77Lower limb muscle weakness (HP:0007340)2.25577990
78Absent speech (HP:0001344)2.25421410
79Fetal akinesia sequence (HP:0001989)2.23672650
80Annular pancreas (HP:0001734)2.18754074
81Pointed chin (HP:0000307)2.16055384
82Generalized myoclonic seizures (HP:0002123)2.15988554
83Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.14301671
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.14301671
85Dysmetric saccades (HP:0000641)2.13247369
86Amyotrophic lateral sclerosis (HP:0007354)2.09441219
87Obstructive sleep apnea (HP:0002870)2.08445230
88Inability to walk (HP:0002540)2.06916822
89Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.06802392
90Morphological abnormality of the pyramidal tract (HP:0002062)2.06123168
91Neuroendocrine neoplasm (HP:0100634)2.05120419
92Increased circulating renin level (HP:0000848)2.04494573
93Failure to thrive in infancy (HP:0001531)2.04404565
94Bundle branch block (HP:0011710)2.04014670
95Clonus (HP:0002169)2.03726367
96Lower limb asymmetry (HP:0100559)2.01172541
97Gait ataxia (HP:0002066)1.99221307
98Spinal canal stenosis (HP:0003416)1.97836688
99Lower limb amyotrophy (HP:0007210)1.92453136
100Rapidly progressive (HP:0003678)1.91670246
101Incomplete penetrance (HP:0003829)1.90903250
102Rigidity (HP:0002063)1.90552488
103Apathy (HP:0000741)1.90461792
104Neuronal loss in central nervous system (HP:0002529)1.89465612
105Delusions (HP:0000746)1.89172133
106Psychosis (HP:0000709)1.88350412
107Inappropriate behavior (HP:0000719)1.87378564
108Hypoventilation (HP:0002791)1.86872750
109Memory impairment (HP:0002354)1.86369594
110Sleep apnea (HP:0010535)1.83371252
111Aplasia involving bones of the upper limbs (HP:0009823)1.80856188
112Aplasia of the phalanges of the hand (HP:0009802)1.80856188
113Aplasia involving bones of the extremities (HP:0009825)1.80856188
114Akinesia (HP:0002304)1.80174106
115Abnormal EKG (HP:0003115)1.79937945
116Hypercortisolism (HP:0001578)1.78280044
117Split foot (HP:0001839)1.77937718
118Abnormality of saccadic eye movements (HP:0000570)1.76949389
119Unsteady gait (HP:0002317)1.76867907
120Neoplasm of the peripheral nervous system (HP:0100007)1.74458837
121Dementia (HP:0000726)1.73565065

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.66146317
2MAP3K94.48910290
3EPHA43.92430000
4MARK13.17972880
5MAP3K42.99607693
6MINK12.94318592
7DAPK22.67107364
8KSR22.51142748
9MAP2K72.42063701
10PRKD32.26941804
11NTRK12.12351233
12MAP3K122.03995457
13CAMKK12.03578415
14NTRK22.01909014
15MAP2K41.98279086
16RIPK41.91065321
17KSR11.84660291
18DAPK11.63817552
19CDK191.57899041
20* CDK51.57738064
21GRK51.54955553
22* PAK61.48601414
23MAP3K21.48596866
24STK381.46339176
25ARAF1.45385991
26PLK21.44200001
27* UHMK11.43553550
28LATS21.32782799
29PRKCG1.27128865
30SIK21.24130629
31MAP3K131.22473352
32CAMKK21.21566892
33MAPK131.20733964
34TNIK1.20715148
35PRPF4B1.19458301
36PNCK1.18986367
37TYRO31.18152723
38TAOK11.17133356
39FES1.12336560
40PHKG11.09500759
41PHKG21.09500759
42RET1.00963774
43CASK0.96642640
44STK110.92495369
45ALK0.90698714
46PRKCH0.88276618
47RAF10.88108073
48LMTK20.86033870
49MAP3K110.86027916
50PKN10.84912271
51SGK4940.84821481
52SGK2230.84821481
53* CAMK2A0.84796496
54* CDK180.82589637
55* CDK140.82527873
56* CDK150.79334662
57PINK10.78255695
58MAP3K10.77286560
59PDK10.75823146
60BRAF0.74556920
61PTK2B0.72338081
62OXSR10.70742671
63SCYL20.70218387
64CSNK1G20.69242585
65DYRK1A0.68851624
66CAMK2B0.68278092
67* CDK11A0.68091504
68MARK20.67174483
69PDPK10.66965748
70SGK10.65569131
71* CAMK10.63482773
72SGK30.61775048
73NEK10.61139078
74SGK20.60929484
75CAMK1G0.59801887
76* CAMK2G0.57545407
77BMPR20.56992014
78RIPK10.56965888
79TESK10.54537436
80PRKCZ0.54271302
81TNK20.51804302
82ROCK20.51756631
83MAP2K10.50676838
84FGFR20.49248380
85FER0.49155240
86* RPS6KA30.47600637
87BRSK10.47423906
88CDC42BPA0.46532030
89MAP3K70.45557469
90FYN0.45209219
91CAMK40.44988820
92CCNB10.44839366
93PRKG20.44371055
94SIK30.42935202
95DAPK30.41680553
96WNK10.41084582
97NEK60.41073846
98PRKCE0.40834513
99WNK30.39801426
100MAP2K60.39304794
101CAMK2D0.38383535
102* MAPK100.37644864
103RPS6KA20.34831780
104MAP3K60.34611755
105DMPK0.33550555
106ROCK10.33468015
107IRAK20.31299189
108ERBB20.31176922
109PRKCB0.30979179
110PRKG10.30540931
111CSNK1E0.28737961
112MAPK120.27934579
113SRC0.27461166
114LIMK10.26712352
115PRKCA0.26682289

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.51540815
2Nicotine addiction_Homo sapiens_hsa050333.44896249
3Olfactory transduction_Homo sapiens_hsa047402.68860415
4Long-term potentiation_Homo sapiens_hsa047202.65849795
5Circadian entrainment_Homo sapiens_hsa047132.65377508
6GABAergic synapse_Homo sapiens_hsa047272.60739973
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52537492
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.52352178
9Glutamatergic synapse_Homo sapiens_hsa047242.51319474
10Amphetamine addiction_Homo sapiens_hsa050312.42287651
11Morphine addiction_Homo sapiens_hsa050322.35352609
12Salivary secretion_Homo sapiens_hsa049702.16959884
13Insulin secretion_Homo sapiens_hsa049112.14602807
14Dopaminergic synapse_Homo sapiens_hsa047282.14106140
15Gastric acid secretion_Homo sapiens_hsa049711.93236022
16Cholinergic synapse_Homo sapiens_hsa047251.91152029
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.86895280
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70515953
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.69572394
20Taste transduction_Homo sapiens_hsa047421.66753545
21Long-term depression_Homo sapiens_hsa047301.64452311
22Oxytocin signaling pathway_Homo sapiens_hsa049211.63670301
23Vitamin B6 metabolism_Homo sapiens_hsa007501.58231114
24Renin secretion_Homo sapiens_hsa049241.57655556
25Serotonergic synapse_Homo sapiens_hsa047261.57032797
26Cocaine addiction_Homo sapiens_hsa050301.56604478
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.51911849
28GnRH signaling pathway_Homo sapiens_hsa049121.49890442
29Calcium signaling pathway_Homo sapiens_hsa040201.46877527
30Collecting duct acid secretion_Homo sapiens_hsa049661.37019689
31Gap junction_Homo sapiens_hsa045401.34639367
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34458711
33Type II diabetes mellitus_Homo sapiens_hsa049301.28163674
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27910944
35cAMP signaling pathway_Homo sapiens_hsa040241.23676626
36Glioma_Homo sapiens_hsa052141.22460218
37Estrogen signaling pathway_Homo sapiens_hsa049151.19517407
38Nitrogen metabolism_Homo sapiens_hsa009101.18526014
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15005676
40ErbB signaling pathway_Homo sapiens_hsa040121.09771137
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07893103
42Axon guidance_Homo sapiens_hsa043601.07519793
43Melanogenesis_Homo sapiens_hsa049161.06357176
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98599009
45Vibrio cholerae infection_Homo sapiens_hsa051100.95316178
46Dorso-ventral axis formation_Homo sapiens_hsa043200.95009907
47Oocyte meiosis_Homo sapiens_hsa041140.93950441
48Cardiac muscle contraction_Homo sapiens_hsa042600.87932421
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.87532983
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.87168668
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86358979
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86043168
53Pancreatic secretion_Homo sapiens_hsa049720.84914099
54Thyroid hormone synthesis_Homo sapiens_hsa049180.82225808
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80065196
56VEGF signaling pathway_Homo sapiens_hsa043700.77997186
57Choline metabolism in cancer_Homo sapiens_hsa052310.77156738
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.76260900
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.75908578
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71184599
61MAPK signaling pathway_Homo sapiens_hsa040100.71126970
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70705852
63Dilated cardiomyopathy_Homo sapiens_hsa054140.64361808
64mTOR signaling pathway_Homo sapiens_hsa041500.61744855
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61503289
66Phototransduction_Homo sapiens_hsa047440.60938574
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.60247343
68Glucagon signaling pathway_Homo sapiens_hsa049220.60141908
69Endocytosis_Homo sapiens_hsa041440.60093446
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59846853
71Ras signaling pathway_Homo sapiens_hsa040140.58306478
72Rap1 signaling pathway_Homo sapiens_hsa040150.54032556
73Bile secretion_Homo sapiens_hsa049760.53777536
74Prion diseases_Homo sapiens_hsa050200.52624629
75Type I diabetes mellitus_Homo sapiens_hsa049400.50873932
76Endometrial cancer_Homo sapiens_hsa052130.50063519
77Alcoholism_Homo sapiens_hsa050340.47955948
78Non-small cell lung cancer_Homo sapiens_hsa052230.47781138
79Inositol phosphate metabolism_Homo sapiens_hsa005620.47700045
80Insulin signaling pathway_Homo sapiens_hsa049100.47090698
81Renal cell carcinoma_Homo sapiens_hsa052110.44516308
82Arginine and proline metabolism_Homo sapiens_hsa003300.43812642
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41933760
84Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41900839
85Wnt signaling pathway_Homo sapiens_hsa043100.41444871
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41340000
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40611611
88Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.39899068
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39835716
90Circadian rhythm_Homo sapiens_hsa047100.39311833
91Arginine biosynthesis_Homo sapiens_hsa002200.39254463
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38853722
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38715219
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38610016
95Mineral absorption_Homo sapiens_hsa049780.35389256
96Chemokine signaling pathway_Homo sapiens_hsa040620.34859834
97Histidine metabolism_Homo sapiens_hsa003400.34543731
98African trypanosomiasis_Homo sapiens_hsa051430.34090917
99Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32790646
100Alzheimers disease_Homo sapiens_hsa050100.31914706
101Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29446266
102Ovarian steroidogenesis_Homo sapiens_hsa049130.29102540
103Prolactin signaling pathway_Homo sapiens_hsa049170.28869922
104Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.28662020
105Colorectal cancer_Homo sapiens_hsa052100.27571623
106Fatty acid biosynthesis_Homo sapiens_hsa000610.26316314
107Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26298820
108HIF-1 signaling pathway_Homo sapiens_hsa040660.21890764
109AMPK signaling pathway_Homo sapiens_hsa041520.21279445
110Tight junction_Homo sapiens_hsa045300.20279316
111beta-Alanine metabolism_Homo sapiens_hsa004100.19784328
112Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.17773813
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.17296132
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.16761416

Most similar genes based on co-expression Upload to Enrichr

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