SEPT3

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 belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two 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)6.16082682
2locomotory exploration behavior (GO:0035641)6.04966203
3synaptic vesicle maturation (GO:0016188)6.03641817
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.73242829
5vocalization behavior (GO:0071625)5.64661354
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.62538248
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.53825690
8synaptic vesicle exocytosis (GO:0016079)5.39160150
9glutamate secretion (GO:0014047)5.21176534
10regulation of synaptic vesicle exocytosis (GO:2000300)5.08275710
11regulation of glutamate receptor signaling pathway (GO:1900449)5.06185709
12layer formation in cerebral cortex (GO:0021819)5.04193538
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.97887443
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.89573897
15protein localization to synapse (GO:0035418)4.87271590
16neuron cell-cell adhesion (GO:0007158)4.85723859
17exploration behavior (GO:0035640)4.79275462
18dendritic spine morphogenesis (GO:0060997)4.53863737
19neurotransmitter secretion (GO:0007269)4.53434251
20regulation of synaptic vesicle transport (GO:1902803)4.50412068
21regulation of synapse structural plasticity (GO:0051823)4.43194671
22synaptic transmission, glutamatergic (GO:0035249)4.42234201
23regulation of neuronal synaptic plasticity (GO:0048168)4.39577647
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.39147804
25glutamate receptor signaling pathway (GO:0007215)4.38929705
26positive regulation of synapse maturation (GO:0090129)4.31160316
27neuronal action potential propagation (GO:0019227)4.28617967
28gamma-aminobutyric acid transport (GO:0015812)4.22888444
29neurotransmitter-gated ion channel clustering (GO:0072578)4.21073607
30establishment of mitochondrion localization (GO:0051654)4.19965280
31nucleobase catabolic process (GO:0046113)4.14472019
32neuron recognition (GO:0008038)4.02603722
33regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.01301284
34neuron-neuron synaptic transmission (GO:0007270)4.00671701
35long-term memory (GO:0007616)3.99129416
36proline transport (GO:0015824)3.99000700
37dendrite morphogenesis (GO:0048813)3.94856060
38axonal fasciculation (GO:0007413)3.91484891
39positive regulation of membrane potential (GO:0045838)3.81006763
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.78594701
41cerebellar granule cell differentiation (GO:0021707)3.73466902
42membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.70799101
43cerebellar Purkinje cell differentiation (GO:0021702)3.69487396
44cellular potassium ion homeostasis (GO:0030007)3.67755092
45regulation of dendritic spine morphogenesis (GO:0061001)3.65994610
46cell migration in hindbrain (GO:0021535)3.65785316
47postsynaptic membrane organization (GO:0001941)3.61944590
48mitochondrion transport along microtubule (GO:0047497)3.60612630
49establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.60612630
50regulation of postsynaptic membrane potential (GO:0060078)3.60414101
51neurotransmitter transport (GO:0006836)3.60223798
52response to pheromone (GO:0019236)3.59548004
53L-amino acid import (GO:0043092)3.57891551
54synaptic vesicle endocytosis (GO:0048488)3.57079173
55central nervous system projection neuron axonogenesis (GO:0021952)3.56672733
56neuromuscular process controlling balance (GO:0050885)3.55640719
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.53536924
58G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.49674091
59transmission of nerve impulse (GO:0019226)3.48800772
60regulation of synaptic plasticity (GO:0048167)3.48669462
61regulation of neurotransmitter secretion (GO:0046928)3.46671146
62activation of protein kinase A activity (GO:0034199)3.45919902
63auditory behavior (GO:0031223)3.44728475
64sodium ion export (GO:0071436)3.41643594
65regulation of synapse maturation (GO:0090128)3.38107634
66mechanosensory behavior (GO:0007638)3.36613413
67positive regulation of dendritic spine morphogenesis (GO:0061003)3.35880560
68regulation of neurotransmitter levels (GO:0001505)3.33409681
69central nervous system myelination (GO:0022010)3.33363521
70axon ensheathment in central nervous system (GO:0032291)3.33363521
71gamma-aminobutyric acid signaling pathway (GO:0007214)3.32098257
72neuromuscular synaptic transmission (GO:0007274)3.31106520
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.29102523
74amino acid import (GO:0043090)3.27373870
75positive regulation of synapse assembly (GO:0051965)3.26730210
76potassium ion homeostasis (GO:0055075)3.26629444
77regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.26572977
78positive regulation of dendritic spine development (GO:0060999)3.23790482
79positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.23323715
80prepulse inhibition (GO:0060134)3.22578528
81response to auditory stimulus (GO:0010996)3.22471088
82cell communication by electrical coupling (GO:0010644)3.22458271
83positive regulation of synaptic transmission, GABAergic (GO:0032230)3.21741833
84synapse assembly (GO:0007416)3.21382669
85positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21288173
86positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.20538337
87adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.19277443
88dendritic spine organization (GO:0097061)3.18852225
89innervation (GO:0060384)3.17716811
90long-term synaptic potentiation (GO:0060291)3.16825909
91pyrimidine nucleobase catabolic process (GO:0006208)3.16811823
92regulation of vesicle fusion (GO:0031338)3.16565536
93regulation of neurotransmitter transport (GO:0051588)3.16181403
94membrane depolarization during action potential (GO:0086010)3.14733950
95membrane depolarization (GO:0051899)3.14716499
96cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14232094
97regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.13001353
98negative regulation of synaptic transmission, GABAergic (GO:0032229)3.12974035
99neuronal ion channel clustering (GO:0045161)3.11348337
100potassium ion import (GO:0010107)3.10644004
101startle response (GO:0001964)3.10285277
102negative regulation of microtubule polymerization (GO:0031115)3.08871729
103adult walking behavior (GO:0007628)3.08715258
104regulation of dendritic spine development (GO:0060998)3.08368722
105establishment of nucleus localization (GO:0040023)3.07880604
106positive regulation of neurotransmitter secretion (GO:0001956)3.07118187
107learning (GO:0007612)3.06730007
108positive regulation of neurotransmitter transport (GO:0051590)3.06704609
109regulation of voltage-gated calcium channel activity (GO:1901385)3.06530490
110membrane hyperpolarization (GO:0060081)3.05017870
111presynaptic membrane assembly (GO:0097105)3.03186364
112glycine transport (GO:0015816)3.02412502
113behavioral fear response (GO:0001662)3.01608558
114behavioral defense response (GO:0002209)3.01608558
115social behavior (GO:0035176)3.01592051
116intraspecies interaction between organisms (GO:0051703)3.01592051
117G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.99994983
118presynaptic membrane organization (GO:0097090)2.99718577
119vesicle transport along microtubule (GO:0047496)2.98743568
120neuromuscular process (GO:0050905)2.95774544

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.50297991
2GBX2_23144817_ChIP-Seq_PC3_Human3.27372414
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10399565
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07060943
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99083923
6REST_21632747_ChIP-Seq_MESCs_Mouse2.84328538
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79109958
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79109958
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66530195
10DROSHA_22980978_ChIP-Seq_HELA_Human2.63146274
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.60675676
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53936935
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52772720
14RARB_27405468_Chip-Seq_BRAIN_Mouse2.50166628
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47126964
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47110762
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41591867
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.37056713
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.30956568
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29699853
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.29337765
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.28921633
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.28844759
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.22629029
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.09952923
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.09938511
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.08913419
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07179225
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.99019816
30AR_21572438_ChIP-Seq_LNCaP_Human1.85090235
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68795257
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62632160
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.54783277
34SMAD4_21799915_ChIP-Seq_A2780_Human1.53563866
35ZNF274_21170338_ChIP-Seq_K562_Hela1.51668861
36RBPJ_22232070_ChIP-Seq_NCS_Mouse1.51480826
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.51150493
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45680155
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44463589
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44090235
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.43358101
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.39227845
43TAF15_26573619_Chip-Seq_HEK293_Human1.35926067
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.35646861
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34586046
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.29573547
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28972896
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.28417479
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.27210507
50AR_19668381_ChIP-Seq_PC3_Human1.25042156
51P300_19829295_ChIP-Seq_ESCs_Human1.21938741
52AR_25329375_ChIP-Seq_VCAP_Human1.20247337
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.20003121
54ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19860339
55KDM2B_26808549_Chip-Seq_K562_Human1.19703505
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.19699564
57RNF2_27304074_Chip-Seq_NSC_Mouse1.18148886
58BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16782177
59STAT3_23295773_ChIP-Seq_U87_Human1.16658350
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.16624737
61WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15278224
62WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14451719
63EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13848133
64THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.13596397
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.13060585
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.11480844
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10629639
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.10340671
69YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09691335
70IGF1R_20145208_ChIP-Seq_DFB_Human1.09166492
71TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08527942
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08195726
73TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08068351
74TP53_20018659_ChIP-ChIP_R1E_Mouse1.07116220
75RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.06841065
76EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.06599261
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.05569091
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03773543
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.03242803
80TCF4_23295773_ChIP-Seq_U87_Human1.02783069
81ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02241924
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01973404
83PIAS1_25552417_ChIP-Seq_VCAP_Human1.01573591
84CTCF_27219007_Chip-Seq_Bcells_Human1.00573187
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00534547
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98843448
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98843448
88SMAD3_21741376_ChIP-Seq_ESCs_Human0.98800858
89TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.98347465
90AHR_22903824_ChIP-Seq_MCF-7_Human0.98337917
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.95429334
92NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94957174
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.94807296
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94567269
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94519870
96ZFP281_27345836_Chip-Seq_ESCs_Mouse0.94220529
97LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93777595
98RUNX2_22187159_ChIP-Seq_PCA_Human0.93525257
99CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89789682
100SOX9_26525672_Chip-Seq_HEART_Mouse0.89212840
101GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88829139
102PRDM14_20953172_ChIP-Seq_ESCs_Human0.88358566
103TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87812229
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87680921
105OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87058487
106CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86427267
107STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.85897945
108POU3F2_20337985_ChIP-ChIP_501MEL_Human0.85767477
109MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.85720145
110TET1_21490601_ChIP-Seq_MESCs_Mouse0.84645496
111BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.83768416
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.83371631
113TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83118046
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.81299985
115FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.81048794
116SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.79090064
117JUN_21703547_ChIP-Seq_K562_Human0.77403803

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.67754193
2MP0003880_abnormal_central_pattern4.47791236
3MP0003635_abnormal_synaptic_transmissio4.20752372
4MP0004270_analgesia3.82445328
5MP0002063_abnormal_learning/memory/cond3.36754465
6MP0005423_abnormal_somatic_nervous3.29717434
7MP0009745_abnormal_behavioral_response3.28096064
8MP0009046_muscle_twitch3.21053188
9MP0002064_seizures3.05791708
10MP0001968_abnormal_touch/_nociception2.87621894
11MP0002734_abnormal_mechanical_nocicepti2.81061896
12MP0002572_abnormal_emotion/affect_behav2.76532362
13MP0001486_abnormal_startle_reflex2.55311273
14MP0002272_abnormal_nervous_system2.48580197
15MP0000778_abnormal_nervous_system2.34710890
16MP0002735_abnormal_chemical_nociception2.24725430
17MP0001440_abnormal_grooming_behavior2.17173469
18MP0002184_abnormal_innervation2.15674732
19MP0002736_abnormal_nociception_after2.14283586
20MP0002733_abnormal_thermal_nociception2.06149219
21MP0008569_lethality_at_weaning2.05810825
22MP0002067_abnormal_sensory_capabilities2.04272974
23MP0001501_abnormal_sleep_pattern1.98688077
24MP0002822_catalepsy1.97610472
25MP0004811_abnormal_neuron_physiology1.94552048
26MP0001970_abnormal_pain_threshold1.93571654
27MP0002557_abnormal_social/conspecific_i1.91196854
28MP0004858_abnormal_nervous_system1.90480934
29MP0001984_abnormal_olfaction1.85835077
30MP0009780_abnormal_chondrocyte_physiolo1.83792471
31MP0004924_abnormal_behavior1.76070314
32MP0005386_behavior/neurological_phenoty1.76070314
33MP0000955_abnormal_spinal_cord1.74751341
34MP0006276_abnormal_autonomic_nervous1.70477607
35MP0003329_amyloid_beta_deposits1.70124553
36MP0004885_abnormal_endolymph1.66338095
37MP0003787_abnormal_imprinting1.63953734
38MP0005645_abnormal_hypothalamus_physiol1.60525179
39MP0002882_abnormal_neuron_morphology1.56628032
40MP0002909_abnormal_adrenal_gland1.56216031
41MP0000569_abnormal_digit_pigmentation1.52949147
42MP0003123_paternal_imprinting1.51169352
43MP0002066_abnormal_motor_capabilities/c1.47750496
44MP0005646_abnormal_pituitary_gland1.45911433
45MP0003879_abnormal_hair_cell1.45282366
46MP0002152_abnormal_brain_morphology1.32897026
47MP0003633_abnormal_nervous_system1.24339442
48MP0001502_abnormal_circadian_rhythm1.23644170
49MP0005394_taste/olfaction_phenotype1.21038682
50MP0005499_abnormal_olfactory_system1.21038682
51MP0004142_abnormal_muscle_tone1.20324843
52MP0003122_maternal_imprinting1.19528885
53MP0003631_nervous_system_phenotype1.10423050
54MP0004742_abnormal_vestibular_system1.08421226
55MP0000566_synostosis1.05643322
56MP0004145_abnormal_muscle_electrophysio1.03915117
57MP0001905_abnormal_dopamine_level1.01608966
58MP0001188_hyperpigmentation1.00003127
59MP0001529_abnormal_vocalization0.96858077
60MP0002069_abnormal_eating/drinking_beha0.96794271
61MP0000631_abnormal_neuroendocrine_gland0.94262532
62MP0002229_neurodegeneration0.91702428
63MP0008877_abnormal_DNA_methylation0.89764120
64MP0003632_abnormal_nervous_system0.88774074
65MP0003861_abnormal_nervous_system0.88611447
66MP0002752_abnormal_somatic_nervous0.88390940
67MP0001177_atelectasis0.87355001
68MP0005551_abnormal_eye_electrophysiolog0.86433303
69MP0008872_abnormal_physiological_respon0.85457736
70MP0005187_abnormal_penis_morphology0.84718799
71MP0003634_abnormal_glial_cell0.83813749
72MP0001963_abnormal_hearing_physiology0.83768144
73MP0003283_abnormal_digestive_organ0.81488781
74MP0000751_myopathy0.81363212
75MP0003938_abnormal_ear_development0.79173200
76MP0004085_abnormal_heartbeat0.75944086
77MP0008874_decreased_physiological_sensi0.72004869
78MP0003137_abnormal_impulse_conducting0.71833726
79MP0002638_abnormal_pupillary_reflex0.69700751
80MP0008961_abnormal_basal_metabolism0.68762750
81MP0010386_abnormal_urinary_bladder0.67694921
82MP0003690_abnormal_glial_cell0.67263476
83MP0000579_abnormal_nail_morphology0.66774189
84MP0001485_abnormal_pinna_reflex0.66646356
85MP0001299_abnormal_eye_distance/0.65813467
86MP0002081_perinatal_lethality0.64309724
87MP0004215_abnormal_myocardial_fiber0.64197657
88MP0008789_abnormal_olfactory_epithelium0.63990428
89MP0000604_amyloidosis0.63955826
90MP0004133_heterotaxia0.63320734
91MP0010769_abnormal_survival0.63026619
92MP0002090_abnormal_vision0.62999749
93MP0000920_abnormal_myelination0.62150255
94MP0004233_abnormal_muscle_weight0.61143402
95MP0005535_abnormal_body_temperature0.60977646
96MP0010770_preweaning_lethality0.60819698
97MP0002082_postnatal_lethality0.60819698
98MP0003119_abnormal_digestive_system0.60013473
99MP0002102_abnormal_ear_morphology0.59818472
100MP0010768_mortality/aging0.59248196
101MP0001943_abnormal_respiration0.58560506
102MP0005409_darkened_coat_color0.58009142
103MP0000026_abnormal_inner_ear0.56814611
104MP0006292_abnormal_olfactory_placode0.55777133
105MP0003075_altered_response_to0.55386257
106MP0002653_abnormal_ependyma_morphology0.55218562
107MP0003121_genomic_imprinting0.55067084
108MP0006072_abnormal_retinal_apoptosis0.54042333
109MP0000534_abnormal_ureter_morphology0.53798073
110MP0001986_abnormal_taste_sensitivity0.52454440
111MP0004510_myositis0.52275431
112MP0002249_abnormal_larynx_morphology0.49938237
113MP0001346_abnormal_lacrimal_gland0.49326903
114MP0003136_yellow_coat_color0.49130491

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.73268049
2Myokymia (HP:0002411)6.56512194
3Focal seizures (HP:0007359)5.44646042
4Visual hallucinations (HP:0002367)5.16808984
5Progressive cerebellar ataxia (HP:0002073)4.73575687
6Epileptic encephalopathy (HP:0200134)4.56182512
7Action tremor (HP:0002345)4.20790390
8Febrile seizures (HP:0002373)4.18928172
9Atonic seizures (HP:0010819)4.07694493
10Broad-based gait (HP:0002136)3.78259252
11Absence seizures (HP:0002121)3.74130928
12Supranuclear gaze palsy (HP:0000605)3.58821943
13Mutism (HP:0002300)3.52199695
14Ankle clonus (HP:0011448)3.47689832
15Generalized tonic-clonic seizures (HP:0002069)3.45363357
16Dialeptic seizures (HP:0011146)3.37668955
17Gaze-evoked nystagmus (HP:0000640)3.37498865
18Poor eye contact (HP:0000817)3.32147412
19Genetic anticipation (HP:0003743)3.24943943
20Impaired vibration sensation in the lower limbs (HP:0002166)3.15715963
21Depression (HP:0000716)3.10854039
22Dysdiadochokinesis (HP:0002075)3.07062498
23Papilledema (HP:0001085)3.01072413
24Abnormal social behavior (HP:0012433)2.97191821
25Impaired social interactions (HP:0000735)2.97191821
26Truncal ataxia (HP:0002078)2.96537434
27Urinary bladder sphincter dysfunction (HP:0002839)2.96313235
28Abnormality of the lower motor neuron (HP:0002366)2.95417483
29Drooling (HP:0002307)2.95072076
30Excessive salivation (HP:0003781)2.95072076
31Hyperventilation (HP:0002883)2.94697960
32Hemiparesis (HP:0001269)2.87855647
33Abnormal eating behavior (HP:0100738)2.87635692
34Impaired smooth pursuit (HP:0007772)2.84472136
35Dysmetria (HP:0001310)2.82880569
36Amyotrophic lateral sclerosis (HP:0007354)2.79358668
37Limb dystonia (HP:0002451)2.76674255
38Abnormality of binocular vision (HP:0011514)2.75328818
39Diplopia (HP:0000651)2.75328818
40Amblyopia (HP:0000646)2.75007605
41Anxiety (HP:0000739)2.71361013
42Urinary urgency (HP:0000012)2.66402839
43Postural instability (HP:0002172)2.62385427
44Abnormality of the corticospinal tract (HP:0002492)2.62148022
45Megalencephaly (HP:0001355)2.58191498
46Scanning speech (HP:0002168)2.55811911
47Abnormality of ocular smooth pursuit (HP:0000617)2.55294905
48Spastic gait (HP:0002064)2.54608631
49Progressive inability to walk (HP:0002505)2.52758186
50Stereotypic behavior (HP:0000733)2.51654027
51Intention tremor (HP:0002080)2.51023490
52Torticollis (HP:0000473)2.49983535
53Hemiplegia (HP:0002301)2.46501624
54Epileptiform EEG discharges (HP:0011182)2.41925925
55Fetal akinesia sequence (HP:0001989)2.41345616
56EEG with generalized epileptiform discharges (HP:0011198)2.37063681
57Termporal pattern (HP:0011008)2.36572457
58Insidious onset (HP:0003587)2.36572457
59Focal dystonia (HP:0004373)2.35707730
60Agitation (HP:0000713)2.35496982
61Inappropriate behavior (HP:0000719)2.32180344
62Obstructive sleep apnea (HP:0002870)2.31103551
63Hypsarrhythmia (HP:0002521)2.30453525
64Polyphagia (HP:0002591)2.30340312
65Insomnia (HP:0100785)2.28800491
66Neurofibrillary tangles (HP:0002185)2.28272165
67Absent speech (HP:0001344)2.27793217
68Pointed chin (HP:0000307)2.27421936
69Cerebral inclusion bodies (HP:0100314)2.24943769
70Dysmetric saccades (HP:0000641)2.23264925
71Bradykinesia (HP:0002067)2.20571206
72Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18252971
73Degeneration of the lateral corticospinal tracts (HP:0002314)2.18252971
74Spastic tetraparesis (HP:0001285)2.16219985
75Spastic tetraplegia (HP:0002510)2.15301187
76Peripheral hypomyelination (HP:0007182)2.15173541
77Cerebral hypomyelination (HP:0006808)2.11506072
78Annular pancreas (HP:0001734)2.09680311
79Lower limb muscle weakness (HP:0007340)2.09620131
80Ventricular fibrillation (HP:0001663)2.08914676
81Impaired vibratory sensation (HP:0002495)2.05965476
82Apathy (HP:0000741)2.04412610
83Status epilepticus (HP:0002133)2.04181028
84Hypoplasia of the corpus callosum (HP:0002079)2.01150106
85Craniofacial dystonia (HP:0012179)2.01090990
86Inability to walk (HP:0002540)1.95723564
87Tetraplegia (HP:0002445)1.94029540
88Pheochromocytoma (HP:0002666)1.91882419
89Abnormality of salivation (HP:0100755)1.91442842
90Akinesia (HP:0002304)1.90687783
91Gait ataxia (HP:0002066)1.90405246
92Morphological abnormality of the pyramidal tract (HP:0002062)1.89645891
93Incomplete penetrance (HP:0003829)1.88758443
94Lower limb asymmetry (HP:0100559)1.88495206
95Abnormality of the labia minora (HP:0012880)1.88054838
96Specific learning disability (HP:0001328)1.87472376
97Generalized myoclonic seizures (HP:0002123)1.86321602
98Aqueductal stenosis (HP:0002410)1.86243239
99Esotropia (HP:0000565)1.84762334
100Failure to thrive in infancy (HP:0001531)1.84542025
101Clonus (HP:0002169)1.84152363
102Split foot (HP:0001839)1.83622935
103Sleep apnea (HP:0010535)1.82315096
104Neuronal loss in central nervous system (HP:0002529)1.80851355
105Aplasia/Hypoplasia of the brainstem (HP:0007362)1.80364463
106Hypoplasia of the brainstem (HP:0002365)1.80364463
107Lissencephaly (HP:0001339)1.79062783
108Diminished motivation (HP:0000745)1.78388365
109Protruding tongue (HP:0010808)1.76799369
110Blue irides (HP:0000635)1.74847530
111Poor suck (HP:0002033)1.74308278
112Gait imbalance (HP:0002141)1.71061680
113Delusions (HP:0000746)1.70666295
114Sporadic (HP:0003745)1.70156132
115Pachygyria (HP:0001302)1.68403536
116Intellectual disability, severe (HP:0010864)1.67221254

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.95382407
2NTRK34.14350787
3MAP3K93.78268593
4EPHA43.42778593
5MAP3K43.06162707
6MINK12.77506528
7MAP2K72.52630614
8DAPK22.47776803
9NTRK22.47028341
10PAK62.37736077
11CAMKK11.94818613
12KSR11.92164810
13MAPK131.91313308
14MAP2K41.81488348
15KSR21.76416234
16PRKD31.75373903
17SIK21.69696266
18TNIK1.66128281
19MAP3K121.60363987
20CDK51.57201640
21CASK1.56063792
22PRPF4B1.48836793
23PHKG21.47003370
24PHKG11.47003370
25NTRK11.41950859
26DAPK11.40075753
27CDK191.33555031
28PNCK1.33443742
29STK381.30639598
30PLK21.29528837
31UHMK11.25494590
32PRKCG1.21717701
33TYRO31.21330242
34LATS21.20496433
35CAMKK21.15942485
36GRK51.09158525
37RIPK41.08046758
38ERBB31.06679451
39TAOK11.04907496
40CDK181.01416879
41CDK150.99796789
42STK110.99074342
43CSNK1G20.95231391
44CDK140.93960750
45MAP3K20.91622749
46SGK2230.90181809
47SGK4940.90181809
48FES0.89696190
49DYRK1A0.89001338
50CDK11A0.87930568
51CAMK10.87797784
52CAMK2A0.85599388
53PAK30.84382151
54MARK20.83695042
55RET0.79542102
56ALK0.79220154
57SGK20.78527379
58RIPK10.73757668
59PRKCH0.72727676
60DYRK20.70725046
61ARAF0.69470279
62CAMK2B0.68785971
63SGK30.67395311
64CAMK1G0.65523908
65SGK10.63207668
66PRKCZ0.61455256
67RAF10.58646539
68LMTK20.56383200
69OXSR10.55848468
70MAP3K60.54312913
71CAMK40.53300510
72CCNB10.49835425
73PDK10.49706326
74CDC42BPA0.49521818
75RPS6KA30.48679243
76FYN0.46607587
77PINK10.46377181
78WNK30.45947247
79RPS6KA20.45176952
80CAMK1D0.44986837
81ROCK20.44465503
82BMPR20.44386227
83PDPK10.41950505
84NEK60.41825682
85MAPK100.41700492
86CSNK1D0.41024215
87CSNK1G10.40940300
88PKN10.40893908
89CSNK1G30.40800247
90BRSK10.40390060
91MAP3K130.40263426
92CSNK1E0.40152747
93SCYL20.39116881
94PRKCE0.38696170
95PTK2B0.38100503
96SIK30.37577555
97DYRK1B0.37378884
98CSNK1A1L0.36931569
99ICK0.36812106
100ERBB20.36346606
101EPHB20.35640712
102LIMK10.34957103
103MAPK120.34733921
104WNK10.34305761
105NEK10.33968145
106CAMK2G0.33609022
107FGFR20.32884368
108BCR0.31853804
109MAPK80.31391801
110CAMK2D0.31237970
111GSK3B0.30359577
112PRKACA0.28548655
113RPS6KB10.27215820
114MAPK40.25177935
115WNK40.24934896
116PRKAA10.24486652
117PRKCB0.24414784
118PRKDC0.24022142
119CSNK1A10.23776290
120TESK10.23624785
121ROCK10.22970369

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.78169972
2Synaptic vesicle cycle_Homo sapiens_hsa047213.20479753
3Olfactory transduction_Homo sapiens_hsa047402.78066676
4Circadian entrainment_Homo sapiens_hsa047132.72534354
5Glutamatergic synapse_Homo sapiens_hsa047242.70440132
6GABAergic synapse_Homo sapiens_hsa047272.69744506
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.67434880
8Long-term potentiation_Homo sapiens_hsa047202.65654646
9Morphine addiction_Homo sapiens_hsa050322.46585035
10Amphetamine addiction_Homo sapiens_hsa050312.31629066
11Dopaminergic synapse_Homo sapiens_hsa047282.20038292
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.17345742
13Salivary secretion_Homo sapiens_hsa049702.04164518
14Cholinergic synapse_Homo sapiens_hsa047251.96942229
15Insulin secretion_Homo sapiens_hsa049111.91334064
16Gastric acid secretion_Homo sapiens_hsa049711.83184226
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.82266292
18Long-term depression_Homo sapiens_hsa047301.81029942
19Taste transduction_Homo sapiens_hsa047421.77478372
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67516489
21Oxytocin signaling pathway_Homo sapiens_hsa049211.63438802
22Serotonergic synapse_Homo sapiens_hsa047261.59138235
23Cocaine addiction_Homo sapiens_hsa050301.55764811
24Renin secretion_Homo sapiens_hsa049241.54152380
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50766724
26Calcium signaling pathway_Homo sapiens_hsa040201.47157970
27GnRH signaling pathway_Homo sapiens_hsa049121.46630719
28Axon guidance_Homo sapiens_hsa043601.42827117
29Gap junction_Homo sapiens_hsa045401.41610822
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40607134
31Type II diabetes mellitus_Homo sapiens_hsa049301.32687858
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.30738735
33cAMP signaling pathway_Homo sapiens_hsa040241.25679611
34Estrogen signaling pathway_Homo sapiens_hsa049151.23319910
35Glioma_Homo sapiens_hsa052141.21688959
36ErbB signaling pathway_Homo sapiens_hsa040121.15235526
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14746335
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13577613
39Melanogenesis_Homo sapiens_hsa049161.07712275
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.06331069
41Collecting duct acid secretion_Homo sapiens_hsa049661.03651682
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99740446
43Oocyte meiosis_Homo sapiens_hsa041140.99184484
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92206283
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.89122109
46Vitamin B6 metabolism_Homo sapiens_hsa007500.88970362
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84231809
48Dorso-ventral axis formation_Homo sapiens_hsa043200.82554334
49Choline metabolism in cancer_Homo sapiens_hsa052310.80223652
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.79225774
51Endometrial cancer_Homo sapiens_hsa052130.78857501
52Phototransduction_Homo sapiens_hsa047440.78371525
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.78309116
54Cardiac muscle contraction_Homo sapiens_hsa042600.77908639
55MAPK signaling pathway_Homo sapiens_hsa040100.75883770
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75536966
57Pancreatic secretion_Homo sapiens_hsa049720.75077087
58Thyroid hormone synthesis_Homo sapiens_hsa049180.73781925
59Nitrogen metabolism_Homo sapiens_hsa009100.73175900
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71631618
61VEGF signaling pathway_Homo sapiens_hsa043700.71266336
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70175210
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69379355
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67402776
65mTOR signaling pathway_Homo sapiens_hsa041500.66701753
66Dilated cardiomyopathy_Homo sapiens_hsa054140.66686172
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65974671
68Vibrio cholerae infection_Homo sapiens_hsa051100.63868238
69Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.61519297
70Ras signaling pathway_Homo sapiens_hsa040140.60744773
71Colorectal cancer_Homo sapiens_hsa052100.59887601
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59520832
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.59122599
74Wnt signaling pathway_Homo sapiens_hsa043100.59039653
75Alcoholism_Homo sapiens_hsa050340.58383338
76Rap1 signaling pathway_Homo sapiens_hsa040150.58069279
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57136164
78Hippo signaling pathway_Homo sapiens_hsa043900.56841392
79Renal cell carcinoma_Homo sapiens_hsa052110.56302096
80Alzheimers disease_Homo sapiens_hsa050100.54370223
81Non-small cell lung cancer_Homo sapiens_hsa052230.53481967
82Glucagon signaling pathway_Homo sapiens_hsa049220.52696934
83Endocytosis_Homo sapiens_hsa041440.51752130
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51433674
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49826520
86Insulin signaling pathway_Homo sapiens_hsa049100.46518440
87Inositol phosphate metabolism_Homo sapiens_hsa005620.46292729
88Circadian rhythm_Homo sapiens_hsa047100.46132676
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46120339
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44559919
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.42821814
92Bile secretion_Homo sapiens_hsa049760.41102447
93AMPK signaling pathway_Homo sapiens_hsa041520.39051138
94Chemokine signaling pathway_Homo sapiens_hsa040620.37869023
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37809167
96Type I diabetes mellitus_Homo sapiens_hsa049400.37604744
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37500375
98Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37026049
99Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.36356765
100Butanoate metabolism_Homo sapiens_hsa006500.35765337
101Prion diseases_Homo sapiens_hsa050200.35673783
102Regulation of autophagy_Homo sapiens_hsa041400.35085046
103Ovarian steroidogenesis_Homo sapiens_hsa049130.34511863
104Hedgehog signaling pathway_Homo sapiens_hsa043400.33474490
105Basal cell carcinoma_Homo sapiens_hsa052170.33274019
106Prolactin signaling pathway_Homo sapiens_hsa049170.31949591
107SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31915130
108Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30450004
109Tight junction_Homo sapiens_hsa045300.27760155
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27449821

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