NLGN3

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





Description: This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)6.29123462
2* neuron cell-cell adhesion (GO:0007158)5.95877947
3* regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.24038961
4* vocalization behavior (GO:0071625)5.13643423
5nucleobase catabolic process (GO:0046113)4.98071992
6protein localization to synapse (GO:0035418)4.89713865
7regulation of short-term neuronal synaptic plasticity (GO:0048172)4.89096193
8ionotropic glutamate receptor signaling pathway (GO:0035235)4.87619066
9* positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.84713363
10synaptic vesicle exocytosis (GO:0016079)4.77932028
11neurotransmitter-gated ion channel clustering (GO:0072578)4.74072383
12* regulation of glutamate receptor signaling pathway (GO:1900449)4.68854583
13locomotory exploration behavior (GO:0035641)4.68286251
14glutamate receptor signaling pathway (GO:0007215)4.52674734
15* presynaptic membrane assembly (GO:0097105)4.44808972
16synaptic transmission, glutamatergic (GO:0035249)4.32353483
17axon ensheathment in central nervous system (GO:0032291)4.30489055
18central nervous system myelination (GO:0022010)4.30489055
19* regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.29016401
20establishment of mitochondrion localization (GO:0051654)4.26012963
21regulation of synaptic vesicle exocytosis (GO:2000300)4.22951437
22neuron-neuron synaptic transmission (GO:0007270)4.22598383
23exploration behavior (GO:0035640)4.17581854
24neuron recognition (GO:0008038)4.13946127
25glutamate secretion (GO:0014047)4.09959347
26* presynaptic membrane organization (GO:0097090)4.08299033
27positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.05111597
28neuronal action potential propagation (GO:0019227)4.00701237
29gamma-aminobutyric acid signaling pathway (GO:0007214)3.97252603
30startle response (GO:0001964)3.92881667
31cellular potassium ion homeostasis (GO:0030007)3.91030328
32negative regulation of synaptic transmission, GABAergic (GO:0032229)3.85188334
33amino acid import (GO:0043090)3.83848072
34gamma-aminobutyric acid transport (GO:0015812)3.83464173
35synaptic vesicle maturation (GO:0016188)3.83403348
36neuronal ion channel clustering (GO:0045161)3.75186917
37* postsynaptic membrane organization (GO:0001941)3.71323105
38axonal fasciculation (GO:0007413)3.70760440
39dendritic spine morphogenesis (GO:0060997)3.70001429
40regulation of synaptic vesicle transport (GO:1902803)3.69316065
41long-term synaptic potentiation (GO:0060291)3.68484881
42transmission of nerve impulse (GO:0019226)3.67813243
43sodium ion export (GO:0071436)3.66745289
44synaptic vesicle docking involved in exocytosis (GO:0016081)3.66019830
45neurotransmitter secretion (GO:0007269)3.65913015
46regulation of long-term neuronal synaptic plasticity (GO:0048169)3.65003484
47regulation of neuronal synaptic plasticity (GO:0048168)3.63397993
48cerebellar granule cell differentiation (GO:0021707)3.62562871
49* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.62143026
50regulation of synapse structural plasticity (GO:0051823)3.62087925
51response to histamine (GO:0034776)3.55808796
52G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.52723530
53* regulation of synaptic transmission, glutamatergic (GO:0051966)3.49327605
54* regulation of postsynaptic membrane potential (GO:0060078)3.47833902
55neurotransmitter uptake (GO:0001504)3.45200319
56positive regulation of synapse maturation (GO:0090129)3.40489707
57negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.39990014
58acidic amino acid transport (GO:0015800)3.37137294
59membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.36450365
60* positive regulation of synapse assembly (GO:0051965)3.35869321
61* regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.35722901
62positive regulation of synaptic transmission, GABAergic (GO:0032230)3.34644722
63synaptic vesicle endocytosis (GO:0048488)3.34597333
64long-term memory (GO:0007616)3.33653938
65* positive regulation of membrane potential (GO:0045838)3.29916481
66cerebral cortex radially oriented cell migration (GO:0021799)3.29019658
67innervation (GO:0060384)3.27593112
68regulation of synaptic plasticity (GO:0048167)3.26593765
69calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.21590156
70layer formation in cerebral cortex (GO:0021819)3.20285603
71potassium ion import (GO:0010107)3.17964687
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.17910646
73C4-dicarboxylate transport (GO:0015740)3.16602588
74regulation of glutamate secretion (GO:0014048)3.15973610
75auditory behavior (GO:0031223)3.14917309
76neurotransmitter transport (GO:0006836)3.14716238
77regulation of neurotransmitter secretion (GO:0046928)3.14520923
78behavioral defense response (GO:0002209)3.10181956
79behavioral fear response (GO:0001662)3.10181956
80negative regulation of neurotransmitter transport (GO:0051589)3.08725946
81* positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.08203676
82* synapse assembly (GO:0007416)3.08186037
83neuromuscular synaptic transmission (GO:0007274)3.07583576
84response to auditory stimulus (GO:0010996)3.04098250
85* learning (GO:0007612)3.03603777
86* membrane depolarization (GO:0051899)3.02889948
87mechanosensory behavior (GO:0007638)3.02024779
88dendrite morphogenesis (GO:0048813)3.01989341
89cell migration in hindbrain (GO:0021535)3.01560517
90mitochondrion transport along microtubule (GO:0047497)3.01143175
91establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.01143175
92positive regulation of dendritic spine development (GO:0060999)3.00826426
93regulation of synapse maturation (GO:0090128)3.00684801
94* regulation of dendritic spine morphogenesis (GO:0061001)3.00576020
95potassium ion homeostasis (GO:0055075)2.99432367
96dendrite development (GO:0016358)2.97736078
97L-glutamate transport (GO:0015813)2.96628310
98proline transport (GO:0015824)2.94712801
99righting reflex (GO:0060013)2.93462414
100fear response (GO:0042596)2.92515242
101dendritic spine organization (GO:0097061)2.91687099
102regulation of synaptic transmission, GABAergic (GO:0032228)2.91269103
103* regulation of respiratory system process (GO:0044065)2.90009146
104regulation of neurotransmitter transport (GO:0051588)2.89894382
105central nervous system projection neuron axonogenesis (GO:0021952)2.89642153
106negative regulation of dendrite development (GO:2000171)2.88469413
107regulation of vesicle fusion (GO:0031338)2.88235478
108regulation of neurotransmitter levels (GO:0001505)2.87360931
109adult walking behavior (GO:0007628)2.86801933
110nonmotile primary cilium assembly (GO:0035058)2.86783845
111synaptic transmission (GO:0007268)2.86373560
112behavioral response to cocaine (GO:0048148)2.86367672
113positive regulation of neurotransmitter secretion (GO:0001956)2.86207592
114negative regulation of axonogenesis (GO:0050771)2.86017021
115cerebellar Purkinje cell differentiation (GO:0021702)2.85910061
116* regulation of dendritic spine development (GO:0060998)2.85074827
117regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.84417267
118membrane depolarization during action potential (GO:0086010)2.84342206
119* synapse organization (GO:0050808)2.83657023
120* membrane hyperpolarization (GO:0060081)2.83017331
121* regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.82244446
122* regulation of synaptic transmission (GO:0050804)2.81748071
123cell communication by electrical coupling (GO:0010644)2.81596628
124positive regulation of dendritic spine morphogenesis (GO:0061003)2.81583052
125* regulation of synapse assembly (GO:0051963)2.81224324
126L-amino acid import (GO:0043092)2.80469253
127cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.79413765
128cellular sodium ion homeostasis (GO:0006883)2.75128810
129hippocampus development (GO:0021766)2.74445245

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.52369432
2GBX2_23144817_ChIP-Seq_PC3_Human4.22301695
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09194324
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.03799548
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98281814
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.62719223
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.61395829
8SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58426872
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58225417
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58225417
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52397280
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.46968522
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46296045
14TAF15_26573619_Chip-Seq_HEK293_Human2.46294106
15REST_21632747_ChIP-Seq_MESCs_Mouse2.39125401
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.30927057
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24946106
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.24930587
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.21434918
20ZFP57_27257070_Chip-Seq_ESCs_Mouse2.15593682
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.11665139
22AR_21572438_ChIP-Seq_LNCaP_Human2.10781775
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.09535268
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.09106649
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.08946756
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99239932
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.97501354
28DROSHA_22980978_ChIP-Seq_HELA_Human1.94781283
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.89327096
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.86923273
31RARB_27405468_Chip-Seq_BRAIN_Mouse1.86694227
32REST_18959480_ChIP-ChIP_MESCs_Mouse1.85881235
33CBX2_27304074_Chip-Seq_ESCs_Mouse1.83421441
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.81195075
35SMAD4_21799915_ChIP-Seq_A2780_Human1.80261725
36P300_19829295_ChIP-Seq_ESCs_Human1.79582607
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.77918115
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72253063
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70405371
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.68189258
41RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.66971994
42BMI1_23680149_ChIP-Seq_NPCS_Mouse1.61792782
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61665454
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.58358728
45FUS_26573619_Chip-Seq_HEK293_Human1.56711148
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.56290782
47SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56281862
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50919206
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47875742
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.47459403
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44635539
52ZNF274_21170338_ChIP-Seq_K562_Hela1.43119964
53RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.43049484
54RNF2_27304074_Chip-Seq_NSC_Mouse1.42717772
55IGF1R_20145208_ChIP-Seq_DFB_Human1.38545397
56* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.38377027
57VDR_22108803_ChIP-Seq_LS180_Human1.36802365
58AR_25329375_ChIP-Seq_VCAP_Human1.35422361
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.33167715
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.29930871
61STAT3_23295773_ChIP-Seq_U87_Human1.29425289
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.28201266
63GATA1_26923725_Chip-Seq_HPCs_Mouse1.24235290
64NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23354878
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21958708
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21437928
67ER_23166858_ChIP-Seq_MCF-7_Human1.21062912
68ERG_21242973_ChIP-ChIP_JURKAT_Human1.20801395
69OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.19298995
70RING1B_27294783_Chip-Seq_ESCs_Mouse1.18878754
71KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.18403665
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18318403
73TCF4_23295773_ChIP-Seq_U87_Human1.17412145
74CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15480023
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.15245835
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.15073391
77RUNX2_22187159_ChIP-Seq_PCA_Human1.14287649
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.13735446
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.13215131
80POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11776198
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11776198
82MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.11665043
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.10815968
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09843972
85CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09163178
86NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09133215
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08294611
88SALL1_21062744_ChIP-ChIP_HESCs_Human1.07936585
89AHR_22903824_ChIP-Seq_MCF-7_Human1.07636750
90P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07204965
91JUN_21703547_ChIP-Seq_K562_Human1.06752891
92AR_19668381_ChIP-Seq_PC3_Human1.06386489
93TP53_18474530_ChIP-ChIP_U2OS_Human1.05519692
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05336229
95TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05093992
96FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.04837276
97YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04620787
98ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04096015
99RING1B_27294783_Chip-Seq_NPCs_Mouse1.04044413
100WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03697113
101EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01718735
102POU5F1_16153702_ChIP-ChIP_HESCs_Human1.00710058
103STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.00673739
104E2F1_18555785_Chip-Seq_ESCs_Mouse0.98695704
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.98432813
106TP53_16413492_ChIP-PET_HCT116_Human0.97968731
107SOX9_26525672_Chip-Seq_HEART_Mouse0.96324840
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.96195643
109* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.95991028
110DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95742188
111SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95642061
112EWS_26573619_Chip-Seq_HEK293_Human0.95633478
113RBPJ_22232070_ChIP-Seq_NCS_Mouse0.95462995
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94356276
115KDM2B_26808549_Chip-Seq_REH_Human0.94176999
116CMYC_18555785_Chip-Seq_ESCs_Mouse0.94036886
117EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93644850
118P53_22387025_ChIP-Seq_ESCs_Mouse0.93544028
119MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.92952703
120POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.90868265

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.57701514
2MP0004859_abnormal_synaptic_plasticity5.09899238
3* MP0003635_abnormal_synaptic_transmissio3.77500333
4MP0004270_analgesia3.35858660
5MP0009745_abnormal_behavioral_response3.31453784
6MP0001968_abnormal_touch/_nociception3.15797759
7* MP0002063_abnormal_learning/memory/cond3.10539119
8MP0002064_seizures3.05983506
9MP0005423_abnormal_somatic_nervous3.01186314
10MP0009046_muscle_twitch2.96310274
11* MP0002572_abnormal_emotion/affect_behav2.81205646
12MP0002736_abnormal_nociception_after2.77083612
13MP0002272_abnormal_nervous_system2.65346442
14MP0002734_abnormal_mechanical_nocicepti2.55829662
15* MP0001486_abnormal_startle_reflex2.55703159
16MP0002735_abnormal_chemical_nociception2.43944307
17MP0000778_abnormal_nervous_system2.28631740
18MP0001501_abnormal_sleep_pattern2.25103795
19MP0001440_abnormal_grooming_behavior2.15858386
20* MP0002067_abnormal_sensory_capabilities2.12299945
21MP0006276_abnormal_autonomic_nervous2.11808370
22MP0002653_abnormal_ependyma_morphology2.01083782
23MP0002184_abnormal_innervation1.99858406
24MP0002822_catalepsy1.99470962
25MP0005646_abnormal_pituitary_gland1.99463509
26MP0002733_abnormal_thermal_nociception1.91928844
27MP0001970_abnormal_pain_threshold1.85832155
28* MP0002557_abnormal_social/conspecific_i1.78282652
29MP0001188_hyperpigmentation1.74192568
30MP0004858_abnormal_nervous_system1.69333250
31MP0005645_abnormal_hypothalamus_physiol1.69330468
32* MP0004924_abnormal_behavior1.60881569
33* MP0005386_behavior/neurological_phenoty1.60881569
34MP0001905_abnormal_dopamine_level1.60870969
35MP0004142_abnormal_muscle_tone1.57653254
36MP0009780_abnormal_chondrocyte_physiolo1.56679394
37* MP0001529_abnormal_vocalization1.55847316
38MP0008569_lethality_at_weaning1.54644806
39MP0000955_abnormal_spinal_cord1.53107359
40MP0003787_abnormal_imprinting1.50509299
41MP0002882_abnormal_neuron_morphology1.48445092
42MP0003121_genomic_imprinting1.47997862
43MP0003329_amyloid_beta_deposits1.47497806
44MP0004811_abnormal_neuron_physiology1.46953730
45MP0004742_abnormal_vestibular_system1.45354217
46* MP0001984_abnormal_olfaction1.40508730
47* MP0002066_abnormal_motor_capabilities/c1.39116684
48MP0001502_abnormal_circadian_rhythm1.32903612
49MP0005171_absent_coat_pigmentation1.29294261
50MP0003122_maternal_imprinting1.27306891
51MP0004885_abnormal_endolymph1.27012195
52MP0003879_abnormal_hair_cell1.23821784
53MP0000566_synostosis1.21219574
54MP0005551_abnormal_eye_electrophysiolog1.20697928
55MP0008789_abnormal_olfactory_epithelium1.20621769
56MP0002837_dystrophic_cardiac_calcinosis1.20250555
57* MP0002152_abnormal_brain_morphology1.16392125
58MP0000049_abnormal_middle_ear1.11727122
59MP0000631_abnormal_neuroendocrine_gland1.06776323
60MP0003634_abnormal_glial_cell1.05533436
61MP0001963_abnormal_hearing_physiology1.03944334
62MP0002909_abnormal_adrenal_gland1.03132794
63MP0000920_abnormal_myelination1.02878279
64MP0003633_abnormal_nervous_system1.02153032
65MP0002752_abnormal_somatic_nervous1.02119387
66MP0005409_darkened_coat_color1.01486716
67MP0002229_neurodegeneration0.99533369
68MP0003631_nervous_system_phenotype0.99109674
69MP0005499_abnormal_olfactory_system0.97555393
70MP0005394_taste/olfaction_phenotype0.97555393
71MP0005167_abnormal_blood-brain_barrier0.96028654
72MP0004133_heterotaxia0.95892860
73MP0004145_abnormal_muscle_electrophysio0.93478003
74MP0003136_yellow_coat_color0.92879980
75MP0001986_abnormal_taste_sensitivity0.92544487
76MP0000751_myopathy0.90996174
77MP0006292_abnormal_olfactory_placode0.90491743
78MP0008877_abnormal_DNA_methylation0.90022825
79MP0002069_abnormal_eating/drinking_beha0.89938630
80MP0002876_abnormal_thyroid_physiology0.88351793
81MP0000026_abnormal_inner_ear0.86979684
82MP0003690_abnormal_glial_cell0.86133408
83MP0002249_abnormal_larynx_morphology0.85971097
84MP0001485_abnormal_pinna_reflex0.85938992
85MP0003632_abnormal_nervous_system0.85285810
86MP0004085_abnormal_heartbeat0.83619225
87MP0001299_abnormal_eye_distance/0.79598349
88MP0008872_abnormal_physiological_respon0.78996367
89MP0002638_abnormal_pupillary_reflex0.78811873
90MP0005248_abnormal_Harderian_gland0.78406524
91MP0001293_anophthalmia0.77189034
92MP0001177_atelectasis0.76478225
93MP0003119_abnormal_digestive_system0.74829170
94MP0002233_abnormal_nose_morphology0.74624549
95MP0003137_abnormal_impulse_conducting0.74473994
96MP0004147_increased_porphyrin_level0.74392158
97MP0005195_abnormal_posterior_eye0.72666365
98MP0003861_abnormal_nervous_system0.70890330
99MP0000579_abnormal_nail_morphology0.68523523
100MP0008874_decreased_physiological_sensi0.68371996
101MP0002751_abnormal_autonomic_nervous0.67143729
102MP0005391_vision/eye_phenotype0.66646154
103MP0006072_abnormal_retinal_apoptosis0.66571037
104MP0003938_abnormal_ear_development0.66254024
105MP0005187_abnormal_penis_morphology0.66163480
106MP0010386_abnormal_urinary_bladder0.66125842
107MP0001943_abnormal_respiration0.65171468
108MP0002081_perinatal_lethality0.65169206
109MP0004215_abnormal_myocardial_fiber0.64474012
110MP0000569_abnormal_digit_pigmentation0.63769501
111MP0001664_abnormal_digestion0.63062495
112MP0002102_abnormal_ear_morphology0.62981387
113MP0002090_abnormal_vision0.58110675
114MP0005535_abnormal_body_temperature0.57002578
115MP0004484_altered_response_of0.56973757
116MP0002082_postnatal_lethality0.56025605
117MP0010770_preweaning_lethality0.56025605
118MP0005253_abnormal_eye_physiology0.55235704
119MP0010769_abnormal_survival0.54255791
120MP0010768_mortality/aging0.51121224

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.72476185
2Myokymia (HP:0002411)5.42614235
3Focal seizures (HP:0007359)5.29459137
4Epileptic encephalopathy (HP:0200134)5.16550616
5Febrile seizures (HP:0002373)4.85293841
6Atonic seizures (HP:0010819)4.78824422
7Hyperventilation (HP:0002883)4.56280827
8Progressive cerebellar ataxia (HP:0002073)4.13124136
9Visual hallucinations (HP:0002367)3.97559030
10Absence seizures (HP:0002121)3.91648036
11Broad-based gait (HP:0002136)3.86745325
12Dialeptic seizures (HP:0011146)3.77470521
13Generalized tonic-clonic seizures (HP:0002069)3.44111675
14Gaze-evoked nystagmus (HP:0000640)3.17199618
15Split foot (HP:0001839)3.07668315
16Amblyopia (HP:0000646)2.92932527
17Excessive salivation (HP:0003781)2.91538710
18Drooling (HP:0002307)2.91538710
19Action tremor (HP:0002345)2.88974390
20Hemiplegia (HP:0002301)2.88260013
21Peripheral hypomyelination (HP:0007182)2.85572745
22Truncal ataxia (HP:0002078)2.77600591
23Absent speech (HP:0001344)2.76097535
24Abnormality of the labia minora (HP:0012880)2.75737246
25Polyphagia (HP:0002591)2.74441208
26Cortical dysplasia (HP:0002539)2.74361668
27Abnormal eating behavior (HP:0100738)2.73816541
28Dysdiadochokinesis (HP:0002075)2.73556431
29Impaired vibration sensation in the lower limbs (HP:0002166)2.69847091
30Supranuclear gaze palsy (HP:0000605)2.66707964
31Fetal akinesia sequence (HP:0001989)2.65134720
32Protruding tongue (HP:0010808)2.64376065
33Epileptiform EEG discharges (HP:0011182)2.63523976
34Gait imbalance (HP:0002141)2.63510433
35Abnormality of the corticospinal tract (HP:0002492)2.63362934
36Poor eye contact (HP:0000817)2.62515497
37Sleep apnea (HP:0010535)2.60542311
38Progressive inability to walk (HP:0002505)2.59379601
39Dysmetria (HP:0001310)2.57377920
40Neurofibrillary tangles (HP:0002185)2.47795372
41Blue irides (HP:0000635)2.46751341
42Abnormality of binocular vision (HP:0011514)2.46554817
43Diplopia (HP:0000651)2.46554817
44Anxiety (HP:0000739)2.46162517
45Hemiparesis (HP:0001269)2.44720084
46EEG with generalized epileptiform discharges (HP:0011198)2.43104600
47Degeneration of the lateral corticospinal tracts (HP:0002314)2.42801966
48Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.42801966
49Inability to walk (HP:0002540)2.42312033
50Ankle clonus (HP:0011448)2.40974729
51Urinary bladder sphincter dysfunction (HP:0002839)2.38963743
52Lissencephaly (HP:0001339)2.37411713
53Cerebral inclusion bodies (HP:0100314)2.36829923
54Limb dystonia (HP:0002451)2.36713764
55Insidious onset (HP:0003587)2.33316354
56Termporal pattern (HP:0011008)2.33316354
57Abnormal social behavior (HP:0012433)2.32942305
58Impaired social interactions (HP:0000735)2.32942305
59Medial flaring of the eyebrow (HP:0010747)2.29229259
60Spastic gait (HP:0002064)2.27703135
61Hypsarrhythmia (HP:0002521)2.26365001
62Oligodactyly (hands) (HP:0001180)2.26171168
63Septo-optic dysplasia (HP:0100842)2.25796264
64Pheochromocytoma (HP:0002666)2.25216255
65Congenital primary aphakia (HP:0007707)2.24315875
66Scanning speech (HP:0002168)2.20871021
67Depression (HP:0000716)2.20320982
68Abnormal hair whorl (HP:0010721)2.19068475
69Hypoplasia of the corpus callosum (HP:0002079)2.18855981
70Aplasia/Hypoplasia of the sternum (HP:0006714)2.16676378
71Akinesia (HP:0002304)2.16216837
72Mutism (HP:0002300)2.14560254
73Specific learning disability (HP:0001328)2.13787384
74Retinal dysplasia (HP:0007973)2.13100368
75Amyotrophic lateral sclerosis (HP:0007354)2.12765170
76Nephrogenic diabetes insipidus (HP:0009806)2.12472172
77Pachygyria (HP:0001302)2.10228202
78Morphological abnormality of the inner ear (HP:0011390)2.08707271
79Stereotypic behavior (HP:0000733)2.06115878
80Abnormality of salivation (HP:0100755)2.04637601
81Aplasia involving bones of the extremities (HP:0009825)2.04171898
82Aplasia involving bones of the upper limbs (HP:0009823)2.04171898
83Aplasia of the phalanges of the hand (HP:0009802)2.04171898
84Spastic tetraplegia (HP:0002510)2.04046959
85Morphological abnormality of the pyramidal tract (HP:0002062)2.03134231
86True hermaphroditism (HP:0010459)2.02937411
87Generalized myoclonic seizures (HP:0002123)2.01352596
88Genetic anticipation (HP:0003743)1.99841197
89Oligodactyly (HP:0012165)1.98178066
90Hepatoblastoma (HP:0002884)1.97998236
91Esotropia (HP:0000565)1.97899330
92Urinary urgency (HP:0000012)1.97286739
93Absent/shortened dynein arms (HP:0200106)1.96993171
94Dynein arm defect of respiratory motile cilia (HP:0012255)1.96993171
95Optic nerve hypoplasia (HP:0000609)1.96617073
96Abnormality of the lower motor neuron (HP:0002366)1.96390399
97Thickened helices (HP:0000391)1.96241829
98Neuroendocrine neoplasm (HP:0100634)1.95150451
99Genital tract atresia (HP:0001827)1.94685603
100Abnormality of the diencephalon (HP:0010662)1.93843176
101Lower limb muscle weakness (HP:0007340)1.92476395
102Widely spaced teeth (HP:0000687)1.92205795
103Failure to thrive in infancy (HP:0001531)1.91500386
104Ulnar claw (HP:0001178)1.91087463
105Vaginal atresia (HP:0000148)1.91087310
106Incomplete penetrance (HP:0003829)1.86080624
107Sensory axonal neuropathy (HP:0003390)1.85811235
108Status epilepticus (HP:0002133)1.85004480
109Narrow nasal bridge (HP:0000446)1.84750304
110Hypoplasia of the brainstem (HP:0002365)1.84592242
111Aplasia/Hypoplasia of the brainstem (HP:0007362)1.84592242
112Fair hair (HP:0002286)1.83711077
113Vitreoretinal degeneration (HP:0000655)1.82894806
114Postural instability (HP:0002172)1.82468036
115Acute necrotizing encephalopathy (HP:0006965)1.81151673
116Impaired smooth pursuit (HP:0007772)1.80280598
117Impaired vibratory sensation (HP:0002495)1.80086194
118Bradykinesia (HP:0002067)1.78800651
119Abnormal ciliary motility (HP:0012262)1.78435419
120Megalencephaly (HP:0001355)1.78113072
121Gastroesophageal reflux (HP:0002020)1.76113322
122Progressive macrocephaly (HP:0004481)1.76024706
123Papilledema (HP:0001085)1.75882806
124Trigonocephaly (HP:0000243)1.74428450
125Torticollis (HP:0000473)1.74029743
126Spastic tetraparesis (HP:0001285)1.72838246
127Intention tremor (HP:0002080)1.72668162
128Intellectual disability, severe (HP:0010864)1.72494267
129Gait ataxia (HP:0002066)1.72110324
130Cutaneous finger syndactyly (HP:0010554)1.72066392
131Exotropia (HP:0000577)1.71499469
132Poor suck (HP:0002033)1.70106399
133Postaxial hand polydactyly (HP:0001162)1.69106859
134Type II lissencephaly (HP:0007260)1.67455675
135Bronchomalacia (HP:0002780)1.66951851
136Poor coordination (HP:0002370)1.66519291
137Pancreatic fibrosis (HP:0100732)1.65532403
138Abnormality of the 4th metacarpal (HP:0010012)1.65369659

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.83014907
2NTRK34.31488061
3EPHA44.30609876
4MAP3K43.20607884
5MARK13.03959551
6MAP2K73.02218819
7MAP3K92.25910772
8MAP3K122.25668547
9TNIK2.18897585
10MINK12.11391188
11NTRK22.10685466
12MAPK131.92509439
13PRPF4B1.81975904
14PAK61.77992110
15MAP2K41.76014706
16PLK21.69868327
17DAPK21.63512798
18CDK191.63148704
19PNCK1.60227682
20KSR11.55610490
21RIPK41.51839071
22EPHA31.44277400
23OXSR11.42091017
24CDK51.36186242
25FES1.33692164
26PINK11.29346020
27MAP4K21.28302906
28SIK21.27089420
29DAPK11.26327686
30SGK2231.25965077
31SGK4941.25965077
32GRK51.22784350
33CCNB11.20312555
34FGFR21.18230439
35SIK31.18089929
36SGK21.17412516
37PRKCG1.15104798
38CAMK2A1.14556958
39KSR21.13749749
40NTRK11.11459392
41TRIM281.09723461
42UHMK11.06765657
43CAMK2B1.06718806
44CSNK1A1L1.06064718
45EPHB21.05633487
46PHKG11.02303204
47PHKG21.02303204
48ARAF0.99602509
49NME10.98039586
50AKT30.96445341
51BMPR20.95917938
52BCR0.92700958
53FGR0.89451096
54DYRK1A0.88639381
55CAMKK20.87710441
56MAPK150.87071232
57STK390.85626936
58CSNK1G10.85491468
59GRK70.83100622
60CAMKK10.82527349
61CDK180.81205221
62PTK2B0.77500978
63TYRO30.76643161
64CDK150.75059864
65CDK140.75018217
66PKN10.73251423
67PRKCE0.72288410
68CAMK40.70002521
69CSNK1G20.69317727
70PAK30.68950107
71SGK30.67724688
72NEK60.67688293
73SGK10.67643800
74PRKD30.66429846
75CDK11A0.64060852
76MAP3K130.63023795
77MUSK0.61239216
78CAMK2D0.59594285
79DYRK20.59175674
80ERBB20.58551513
81MKNK20.57772735
82ROCK20.55957084
83CDK30.55805065
84CAMK10.54590372
85DYRK30.53772767
86ADRBK10.52890711
87ADRBK20.52451959
88STK110.51913150
89CAMK1G0.50919511
90STK380.50859478
91MAPK100.49664545
92WNK30.49385874
93RAF10.49333558
94MARK20.48943605
95ERBB30.48807879
96CSNK1D0.47993752
97CAMK2G0.47240907
98DYRK1B0.43764964
99BMPR1B0.43622991
100TNK20.43326588
101TAOK10.42953403
102PRKCH0.42872892
103MAP3K20.42864686
104BRAF0.42576603
105RET0.42346898
106PRKCZ0.40649393
107MAP3K60.39805554
108FER0.38532762
109RPS6KA30.38524879
110PRKACA0.38387491
111CSNK1G30.37811796
112CSNK1A10.37622097
113ERBB40.37428716
114FYN0.36875622
115PRKDC0.34901451
116RPS6KA40.34329085
117WNK10.33897667
118PRKG10.33891763
119LATS20.33603317
120MAPK120.33537447
121ALK0.33164912
122WNK40.32537972
123MKNK10.32481324
124ROCK10.32066707
125CSNK1E0.31551666
126GSK3B0.29388573
127MAPK90.28632608
128BCKDK0.27660263
129CAMK1D0.26795181

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.43115527
2Synaptic vesicle cycle_Homo sapiens_hsa047213.12978555
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.93450676
4GABAergic synapse_Homo sapiens_hsa047272.75730952
5Glutamatergic synapse_Homo sapiens_hsa047242.67561856
6Circadian entrainment_Homo sapiens_hsa047132.62865750
7Morphine addiction_Homo sapiens_hsa050322.62848777
8Olfactory transduction_Homo sapiens_hsa047402.58285546
9Long-term potentiation_Homo sapiens_hsa047202.52968410
10Amphetamine addiction_Homo sapiens_hsa050312.37963469
11Collecting duct acid secretion_Homo sapiens_hsa049662.17377268
12Taste transduction_Homo sapiens_hsa047422.17313949
13Dopaminergic synapse_Homo sapiens_hsa047282.13667703
14Salivary secretion_Homo sapiens_hsa049702.06347117
15Serotonergic synapse_Homo sapiens_hsa047262.03391400
16Long-term depression_Homo sapiens_hsa047301.89441950
17Cholinergic synapse_Homo sapiens_hsa047251.77154677
18Insulin secretion_Homo sapiens_hsa049111.75965456
19Renin secretion_Homo sapiens_hsa049241.75297104
20Calcium signaling pathway_Homo sapiens_hsa040201.65108200
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.63886046
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.63582091
23Gastric acid secretion_Homo sapiens_hsa049711.63406629
24Cocaine addiction_Homo sapiens_hsa050301.62474988
25Axon guidance_Homo sapiens_hsa043601.55309830
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.52622066
27Oxytocin signaling pathway_Homo sapiens_hsa049211.51808619
28Oxidative phosphorylation_Homo sapiens_hsa001901.45246669
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.38512519
30Phototransduction_Homo sapiens_hsa047441.33219282
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.32169089
32Gap junction_Homo sapiens_hsa045401.31658316
33Vibrio cholerae infection_Homo sapiens_hsa051101.27003588
34GnRH signaling pathway_Homo sapiens_hsa049121.25416105
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23728794
36Cardiac muscle contraction_Homo sapiens_hsa042601.23366281
37Alzheimers disease_Homo sapiens_hsa050101.19086528
38cAMP signaling pathway_Homo sapiens_hsa040241.18374973
39Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18219164
40Steroid biosynthesis_Homo sapiens_hsa001001.15199367
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10308625
42Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.06668041
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06233262
44ErbB signaling pathway_Homo sapiens_hsa040121.03743484
45Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02263177
46Melanogenesis_Homo sapiens_hsa049160.96706211
47Parkinsons disease_Homo sapiens_hsa050120.96643161
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.93640575
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91540866
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.90604407
51Estrogen signaling pathway_Homo sapiens_hsa049150.89903586
52Basal cell carcinoma_Homo sapiens_hsa052170.88045595
53* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.86191594
54Glioma_Homo sapiens_hsa052140.84714418
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.84614321
56Type II diabetes mellitus_Homo sapiens_hsa049300.84545305
57Hippo signaling pathway_Homo sapiens_hsa043900.84359502
58Huntingtons disease_Homo sapiens_hsa050160.73040533
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69984164
60Choline metabolism in cancer_Homo sapiens_hsa052310.69284475
61Bile secretion_Homo sapiens_hsa049760.68685082
62beta-Alanine metabolism_Homo sapiens_hsa004100.68146059
63MAPK signaling pathway_Homo sapiens_hsa040100.68054775
64Pancreatic secretion_Homo sapiens_hsa049720.68046880
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.67426614
66Dilated cardiomyopathy_Homo sapiens_hsa054140.65650291
67Dorso-ventral axis formation_Homo sapiens_hsa043200.65259201
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65136845
69Ras signaling pathway_Homo sapiens_hsa040140.64885730
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64350354
71Oocyte meiosis_Homo sapiens_hsa041140.59326282
72Rheumatoid arthritis_Homo sapiens_hsa053230.56848894
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56216483
74Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.55525096
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.54649730
76Wnt signaling pathway_Homo sapiens_hsa043100.54596360
77Thyroid hormone synthesis_Homo sapiens_hsa049180.53419255
78Fatty acid metabolism_Homo sapiens_hsa012120.52756150
79Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52102996
80Alcoholism_Homo sapiens_hsa050340.51024260
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50823758
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50432370
83Nitrogen metabolism_Homo sapiens_hsa009100.50293756
84Ether lipid metabolism_Homo sapiens_hsa005650.49022196
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48974896
86Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47916851
87Regulation of autophagy_Homo sapiens_hsa041400.47424916
88Rap1 signaling pathway_Homo sapiens_hsa040150.46004374
89Notch signaling pathway_Homo sapiens_hsa043300.44776775
90African trypanosomiasis_Homo sapiens_hsa051430.44624441
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.43932001
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43285041
93Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.41646723
94Prion diseases_Homo sapiens_hsa050200.41269446
95Circadian rhythm_Homo sapiens_hsa047100.41107007
96Type I diabetes mellitus_Homo sapiens_hsa049400.41025525
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40639969
98Renal cell carcinoma_Homo sapiens_hsa052110.40126219
99Propanoate metabolism_Homo sapiens_hsa006400.39508016
100Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38416857
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38087898
102Phagosome_Homo sapiens_hsa041450.37262360
103Butanoate metabolism_Homo sapiens_hsa006500.36614375
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35521453
105Ovarian steroidogenesis_Homo sapiens_hsa049130.35483145
106Arginine and proline metabolism_Homo sapiens_hsa003300.35085644
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.34525524
108Tight junction_Homo sapiens_hsa045300.34193752
109Glucagon signaling pathway_Homo sapiens_hsa049220.33723361
110Vitamin B6 metabolism_Homo sapiens_hsa007500.33505418
111Neurotrophin signaling pathway_Homo sapiens_hsa047220.33117966
112Inositol phosphate metabolism_Homo sapiens_hsa005620.32663734
113Hedgehog signaling pathway_Homo sapiens_hsa043400.32293619
114Colorectal cancer_Homo sapiens_hsa052100.31552865
115AMPK signaling pathway_Homo sapiens_hsa041520.31548768
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30174116
117Sphingolipid metabolism_Homo sapiens_hsa006000.27179355
118Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.24868618
119VEGF signaling pathway_Homo sapiens_hsa043700.24855970
120Melanoma_Homo sapiens_hsa052180.24821838
121Endometrial cancer_Homo sapiens_hsa052130.23493352
122Endocytosis_Homo sapiens_hsa041440.23221623

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