GRM3

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: L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)5.58773993
2axon ensheathment in central nervous system (GO:0032291)5.58773993
3L-amino acid import (GO:0043092)5.29257055
4neurotransmitter-gated ion channel clustering (GO:0072578)4.85093100
5C4-dicarboxylate transport (GO:0015740)4.83706460
6amino acid import (GO:0043090)4.68305902
7alanine transport (GO:0032328)4.39805194
8neuron cell-cell adhesion (GO:0007158)4.38365744
9cellular potassium ion homeostasis (GO:0030007)4.37024317
10locomotory exploration behavior (GO:0035641)4.34162095
11presynaptic membrane assembly (GO:0097105)4.25986973
12gamma-aminobutyric acid transport (GO:0015812)4.13041806
13auditory behavior (GO:0031223)4.11948128
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.11650838
15presynaptic membrane organization (GO:0097090)4.05773297
16response to auditory stimulus (GO:0010996)4.03751295
17regulation of synaptic vesicle transport (GO:1902803)3.99942617
18positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.96907894
19negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.96774664
20negative regulation of astrocyte differentiation (GO:0048712)3.96552258
21positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.94803002
22regulation of beta-amyloid formation (GO:1902003)3.92709918
23vocalization behavior (GO:0071625)3.88183064
24ionotropic glutamate receptor signaling pathway (GO:0035235)3.86878804
25negative regulation of synaptic transmission, GABAergic (GO:0032229)3.84342515
26L-serine transport (GO:0015825)3.83668500
27positive regulation of synapse maturation (GO:0090129)3.75852120
28positive regulation of cellular amide metabolic process (GO:0034250)3.75423809
29regulation of short-term neuronal synaptic plasticity (GO:0048172)3.75333018
30synaptic vesicle exocytosis (GO:0016079)3.74192862
31neuronal action potential propagation (GO:0019227)3.73609940
32response to histamine (GO:0034776)3.73323667
33positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.68207703
34glutamate secretion (GO:0014047)3.66424734
35synaptic transmission, glutamatergic (GO:0035249)3.63971521
36regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.62182778
37sodium ion export (GO:0071436)3.61921131
38postsynaptic membrane organization (GO:0001941)3.61149311
39transmission of nerve impulse (GO:0019226)3.61102876
40neurotransmitter uptake (GO:0001504)3.59127552
41mechanosensory behavior (GO:0007638)3.58789717
42protein localization to synapse (GO:0035418)3.57130112
43* glutamate receptor signaling pathway (GO:0007215)3.55007743
44membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.54984204
45regulation of glutamate receptor signaling pathway (GO:1900449)3.54722337
46neurotransmitter transport (GO:0006836)3.45486730
47positive regulation of synapse assembly (GO:0051965)3.39341467
48regulation of amyloid precursor protein catabolic process (GO:1902991)3.38946386
49membrane depolarization during action potential (GO:0086010)3.38295289
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.38055627
51pyrimidine nucleobase catabolic process (GO:0006208)3.37858527
52startle response (GO:0001964)3.36778996
53proline transport (GO:0015824)3.36594853
54synaptic vesicle maturation (GO:0016188)3.33185883
55neuron-neuron synaptic transmission (GO:0007270)3.32438291
56regulation of neurotransmitter levels (GO:0001505)3.32258727
57layer formation in cerebral cortex (GO:0021819)3.31918592
58positive regulation of membrane potential (GO:0045838)3.31806947
59neuronal ion channel clustering (GO:0045161)3.31422314
60cerebral cortex radially oriented cell migration (GO:0021799)3.30469329
61glial cell proliferation (GO:0014009)3.30197787
62cerebellar granule cell differentiation (GO:0021707)3.27352744
63regulation of neurotransmitter secretion (GO:0046928)3.26927550
64positive regulation of dendritic spine development (GO:0060999)3.24342760
65serine transport (GO:0032329)3.23442280
66membrane depolarization (GO:0051899)3.19283347
67establishment of mitochondrion localization (GO:0051654)3.18514635
68cellular sodium ion homeostasis (GO:0006883)3.16859907
69regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.16638709
70regulation of phospholipid biosynthetic process (GO:0071071)3.16064491
71neuromuscular synaptic transmission (GO:0007274)3.16004081
72acidic amino acid transport (GO:0015800)3.15989582
73oligodendrocyte differentiation (GO:0048709)3.15487405
74cellular response to cholesterol (GO:0071397)3.15464244
75regulation of neuronal synaptic plasticity (GO:0048168)3.14582581
76exploration behavior (GO:0035640)3.12356457
77regulation of synapse maturation (GO:0090128)3.10238610
78potassium ion import (GO:0010107)3.10112535
79regulation of neurotransmitter transport (GO:0051588)3.09915167
80cell communication by electrical coupling (GO:0010644)3.09252600
81positive regulation of dendritic spine morphogenesis (GO:0061003)3.08577510
82regulation of synaptic vesicle exocytosis (GO:2000300)3.07699796
83positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.06006046
84neuromuscular process controlling balance (GO:0050885)3.05923733
85* regulation of synaptic transmission, glutamatergic (GO:0051966)3.05882953
86regulation of synapse structural plasticity (GO:0051823)3.04977163
87chondroitin sulfate catabolic process (GO:0030207)3.04921714
88long-term memory (GO:0007616)3.03804823
89positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.98869091
90dendrite morphogenesis (GO:0048813)2.98653114
91synaptic vesicle docking involved in exocytosis (GO:0016081)2.98269783
92cochlea development (GO:0090102)2.97752175
93synaptic vesicle endocytosis (GO:0048488)2.96502711
94neuron recognition (GO:0008038)2.96262877
95long-term synaptic potentiation (GO:0060291)2.95156335
96* synaptic transmission (GO:0007268)2.95120138
97prepulse inhibition (GO:0060134)2.94726290
98myelination in peripheral nervous system (GO:0022011)2.94626148
99peripheral nervous system axon ensheathment (GO:0032292)2.94626148
100cerebellar Purkinje cell differentiation (GO:0021702)2.93737708
101regulation of excitatory postsynaptic membrane potential (GO:0060079)2.92644890
102gamma-aminobutyric acid signaling pathway (GO:0007214)2.92543106
103dendritic spine morphogenesis (GO:0060997)2.91919439
104regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91612892
105myelination (GO:0042552)2.91579764
106potassium ion homeostasis (GO:0055075)2.91207282
107central nervous system projection neuron axonogenesis (GO:0021952)2.90472309
108nucleobase catabolic process (GO:0046113)2.87647240
109cell differentiation in hindbrain (GO:0021533)2.86434404
110regulation of astrocyte differentiation (GO:0048710)2.86376043
111negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.86073331
112regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.85463984
113positive regulation of potassium ion transmembrane transport (GO:1901381)2.85453501
114regulation of long-term neuronal synaptic plasticity (GO:0048169)2.85288881
115axonal fasciculation (GO:0007413)2.84933475
116behavioral defense response (GO:0002209)2.83941554
117behavioral fear response (GO:0001662)2.83941554
118regulation of dendritic spine morphogenesis (GO:0061001)2.83510663
119axon ensheathment (GO:0008366)2.83296294
120ensheathment of neurons (GO:0007272)2.83296294
121synapse organization (GO:0050808)2.81695502
122regulation of synaptic plasticity (GO:0048167)2.81102211
123negative regulation of protein localization to cell surface (GO:2000009)2.80931386
124L-glutamate transport (GO:0015813)2.80633080
125regulation of dendritic spine development (GO:0060998)2.80567012
126adult walking behavior (GO:0007628)2.78391884
127regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.77248253
128negative regulation of neurotransmitter transport (GO:0051589)2.77161878
129negative regulation of dendrite development (GO:2000171)2.76668244
130glycine transport (GO:0015816)2.76560361
131regulation of postsynaptic membrane potential (GO:0060078)2.75680728
132neurotransmitter secretion (GO:0007269)2.75080441
133regulation of voltage-gated calcium channel activity (GO:1901385)2.73075160
134synapse assembly (GO:0007416)2.72734027

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.55622020
2GBX2_23144817_ChIP-Seq_PC3_Human3.75448834
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07761553
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06738780
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.87479680
6* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.68863914
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56682409
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56682409
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56034436
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53646326
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52768466
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.51866366
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45856767
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.42526436
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34711032
16RNF2_27304074_Chip-Seq_ESCs_Mouse2.23955405
17* REST_21632747_ChIP-Seq_MESCs_Mouse2.20329735
18* AR_21572438_ChIP-Seq_LNCaP_Human2.17238464
19DROSHA_22980978_ChIP-Seq_HELA_Human2.09524981
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.04859061
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03072830
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.01887698
23RARB_27405468_Chip-Seq_BRAIN_Mouse1.90930027
24IKZF1_21737484_ChIP-ChIP_HCT116_Human1.88848178
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.82390192
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.80356057
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78063955
28* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.77809450
29IGF1R_20145208_ChIP-Seq_DFB_Human1.73617393
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72120001
31SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.70900253
32REST_18959480_ChIP-ChIP_MESCs_Mouse1.66541252
33RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.60667373
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.56060778
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55782821
36CBX2_27304074_Chip-Seq_ESCs_Mouse1.54758121
37* P300_19829295_ChIP-Seq_ESCs_Human1.52488931
38SMAD4_21799915_ChIP-Seq_A2780_Human1.51855977
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.50014828
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.48574268
41RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.46596713
42OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46512714
43TAF15_26573619_Chip-Seq_HEK293_Human1.43546775
44* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43130729
45* SMAD3_21741376_ChIP-Seq_EPCs_Human1.42167771
46MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.40262238
47VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.39699408
48CDX2_19796622_ChIP-Seq_MESCs_Mouse1.38328630
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33102372
50* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31871950
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30715312
52AR_25329375_ChIP-Seq_VCAP_Human1.27544890
53RING1B_27294783_Chip-Seq_ESCs_Mouse1.27236169
54CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.26376082
55MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.26116776
56TP53_16413492_ChIP-PET_HCT116_Human1.25685494
57NR3C1_21868756_ChIP-Seq_MCF10A_Human1.23319524
58ZNF274_21170338_ChIP-Seq_K562_Hela1.22224689
59STAT3_23295773_ChIP-Seq_U87_Human1.21838736
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.21325895
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20766315
62POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20692012
63NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.19704998
64ERG_21242973_ChIP-ChIP_JURKAT_Human1.18060483
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16213340
66* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15493046
67RXR_22108803_ChIP-Seq_LS180_Human1.14874352
68UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14793236
69LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13405287
70SOX9_26525672_Chip-Seq_HEART_Mouse1.13137029
71TP53_18474530_ChIP-ChIP_U2OS_Human1.12839781
72* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11669012
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.11512359
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10804933
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09815342
76CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09333515
77FUS_26573619_Chip-Seq_HEK293_Human1.09329473
78PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.09282946
79TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09260700
80GATA1_26923725_Chip-Seq_HPCs_Mouse1.08781899
81VDR_22108803_ChIP-Seq_LS180_Human1.08390144
82* EWS_26573619_Chip-Seq_HEK293_Human1.07939879
83MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07795390
84* AR_19668381_ChIP-Seq_PC3_Human1.07619046
85JUN_21703547_ChIP-Seq_K562_Human1.07337503
86KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.06134790
87* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.05531241
88PRDM14_20953172_ChIP-Seq_ESCs_Human1.04885095
89STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.04571867
90* TCF4_23295773_ChIP-Seq_U87_Human1.03939077
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03446047
92RUNX2_22187159_ChIP-Seq_PCA_Human1.01684384
93TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01300357
94NANOG_18555785_Chip-Seq_ESCs_Mouse1.01003649
95P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99870356
96AHR_22903824_ChIP-Seq_MCF-7_Human0.99157946
97CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98832270
98EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.98369685
99RING1B_27294783_Chip-Seq_NPCs_Mouse0.98139982
100BCAT_22108803_ChIP-Seq_LS180_Human0.97774652
101KDM2B_26808549_Chip-Seq_REH_Human0.97699912
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96616042
103TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95674285
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95674285
105DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95645655
106RNF2_27304074_Chip-Seq_NSC_Mouse0.94017146
107THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.93690662
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.93113810
109CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.92393519
110HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.91705154
111NRF2_20460467_ChIP-Seq_MEFs_Mouse0.91664858
112NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.91664858
113* TAL1_26923725_Chip-Seq_HPCs_Mouse0.91427059
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.91345099
115EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.91095781
116* ER_23166858_ChIP-Seq_MCF-7_Human0.90494310
117E2F1_18555785_Chip-Seq_ESCs_Mouse0.89030918
118RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.87950755
119CMYC_18555785_Chip-Seq_ESCs_Mouse0.87789812

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.53444019
2MP0003880_abnormal_central_pattern3.82124842
3MP0004270_analgesia3.52977394
4MP0003635_abnormal_synaptic_transmissio3.39077919
5MP0003329_amyloid_beta_deposits3.15432204
6MP0001486_abnormal_startle_reflex3.15360230
7MP0009745_abnormal_behavioral_response2.91711377
8MP0003690_abnormal_glial_cell2.82786809
9MP0002064_seizures2.82267055
10MP0002063_abnormal_learning/memory/cond2.75107198
11MP0009046_muscle_twitch2.66361307
12* MP0002572_abnormal_emotion/affect_behav2.52913591
13MP0005423_abnormal_somatic_nervous2.51428364
14MP0005646_abnormal_pituitary_gland2.43408708
15MP0004885_abnormal_endolymph2.38106066
16MP0002272_abnormal_nervous_system2.28733071
17MP0001968_abnormal_touch/_nociception2.27994866
18MP0002734_abnormal_mechanical_nocicepti2.21206544
19MP0004858_abnormal_nervous_system2.18693296
20MP0001502_abnormal_circadian_rhythm2.14850635
21MP0001440_abnormal_grooming_behavior2.11704072
22MP0008569_lethality_at_weaning2.07925405
23MP0009780_abnormal_chondrocyte_physiolo2.03201527
24MP0003136_yellow_coat_color1.99389252
25MP0000778_abnormal_nervous_system1.97835870
26MP0002254_reproductive_system_inflammat1.95696665
27MP0002736_abnormal_nociception_after1.90455976
28MP0000920_abnormal_myelination1.88392497
29MP0000566_synostosis1.85555192
30MP0002733_abnormal_thermal_nociception1.84675826
31MP0002822_catalepsy1.82164095
32MP0002067_abnormal_sensory_capabilities1.81141779
33MP0001984_abnormal_olfaction1.80699523
34MP0005171_absent_coat_pigmentation1.80173046
35MP0001529_abnormal_vocalization1.79333007
36MP0003634_abnormal_glial_cell1.72287936
37MP0003633_abnormal_nervous_system1.71646080
38MP0002557_abnormal_social/conspecific_i1.67468640
39MP0001501_abnormal_sleep_pattern1.67189490
40MP0001970_abnormal_pain_threshold1.65372119
41MP0000604_amyloidosis1.64268459
42MP0003122_maternal_imprinting1.62467392
43MP0004142_abnormal_muscle_tone1.58725324
44MP0005386_behavior/neurological_phenoty1.57776699
45MP0004924_abnormal_behavior1.57776699
46MP0003631_nervous_system_phenotype1.57718177
47MP0003787_abnormal_imprinting1.51794582
48MP0001905_abnormal_dopamine_level1.47117665
49MP0003632_abnormal_nervous_system1.45492899
50MP0001485_abnormal_pinna_reflex1.43061151
51MP0002882_abnormal_neuron_morphology1.39755034
52MP0000955_abnormal_spinal_cord1.36265591
53MP0004742_abnormal_vestibular_system1.35587584
54MP0005551_abnormal_eye_electrophysiolog1.34772335
55MP0002066_abnormal_motor_capabilities/c1.32038242
56MP0002735_abnormal_chemical_nociception1.28678408
57MP0003075_altered_response_to1.27693522
58MP0005409_darkened_coat_color1.23025842
59MP0002229_neurodegeneration1.18549406
60MP0003950_abnormal_plasma_membrane1.17968587
61MP0005645_abnormal_hypothalamus_physiol1.17488307
62MP0002184_abnormal_innervation1.13869505
63MP0002152_abnormal_brain_morphology1.09966239
64MP0001963_abnormal_hearing_physiology1.07920097
65MP0008877_abnormal_DNA_methylation1.03712558
66MP0004811_abnormal_neuron_physiology1.02348993
67MP0004043_abnormal_pH_regulation1.01168085
68MP0003183_abnormal_peptide_metabolism1.00452394
69MP0002909_abnormal_adrenal_gland0.99636424
70MP0003137_abnormal_impulse_conducting0.99444975
71MP0002090_abnormal_vision0.98385229
72MP0001177_atelectasis0.94988200
73MP0009840_abnormal_foam_cell0.94831380
74MP0001346_abnormal_lacrimal_gland0.93934854
75MP0001188_hyperpigmentation0.93312712
76MP0002638_abnormal_pupillary_reflex0.92705574
77MP0005253_abnormal_eye_physiology0.88373700
78MP0003283_abnormal_digestive_organ0.87906791
79MP0002653_abnormal_ependyma_morphology0.87793397
80MP0002752_abnormal_somatic_nervous0.86979106
81MP0000631_abnormal_neuroendocrine_gland0.86087701
82MP0004215_abnormal_myocardial_fiber0.85800523
83MP0003938_abnormal_ear_development0.85504927
84MP0000026_abnormal_inner_ear0.84415596
85MP0004147_increased_porphyrin_level0.83486681
86MP0005187_abnormal_penis_morphology0.82282247
87MP0001299_abnormal_eye_distance/0.81671549
88MP0003861_abnormal_nervous_system0.80621425
89MP0003121_genomic_imprinting0.79121355
90MP0000049_abnormal_middle_ear0.77896788
91MP0002102_abnormal_ear_morphology0.76687947
92MP0002069_abnormal_eating/drinking_beha0.75505649
93MP0000751_myopathy0.72907753
94MP0005377_hearing/vestibular/ear_phenot0.72636599
95MP0003878_abnormal_ear_physiology0.72636599
96MP0008874_decreased_physiological_sensi0.72189733
97MP0005499_abnormal_olfactory_system0.72177861
98MP0005394_taste/olfaction_phenotype0.72177861
99MP0005379_endocrine/exocrine_gland_phen0.69589226
100MP0003879_abnormal_hair_cell0.69398611
101MP0006292_abnormal_olfactory_placode0.68143924
102MP0000647_abnormal_sebaceous_gland0.67919510
103MP0005410_abnormal_fertilization0.67804288
104MP0000537_abnormal_urethra_morphology0.66932078
105MP0000569_abnormal_digit_pigmentation0.66045690
106MP0002249_abnormal_larynx_morphology0.66033683
107MP0002751_abnormal_autonomic_nervous0.65175161
108MP0002234_abnormal_pharynx_morphology0.63692699
109MP0006072_abnormal_retinal_apoptosis0.63089383
110MP0000579_abnormal_nail_morphology0.61043558
111MP0001986_abnormal_taste_sensitivity0.60754898
112MP0006276_abnormal_autonomic_nervous0.60460481
113MP0002928_abnormal_bile_duct0.59520180
114MP0005195_abnormal_posterior_eye0.59341709
115MP0005595_abnormal_vascular_smooth0.59082431
116MP0002127_abnormal_cardiovascular_syste0.58704318
117MP0003119_abnormal_digestive_system0.57511858
118MP0010770_preweaning_lethality0.56599761
119MP0002082_postnatal_lethality0.56599761
120MP0010769_abnormal_survival0.56501822
121MP0009384_cardiac_valve_regurgitation0.56205172
122MP0004085_abnormal_heartbeat0.56142067
123MP0008872_abnormal_physiological_respon0.55154133
124MP0000462_abnormal_digestive_system0.53301609
125MP0001943_abnormal_respiration0.51713455
126MP0001664_abnormal_digestion0.51581294

Predicted human phenotypes

RankGene SetZ-score
1Neurofibrillary tangles (HP:0002185)6.00794621
2Focal motor seizures (HP:0011153)5.81233197
3Megalencephaly (HP:0001355)5.80244661
4Aplasia involving bones of the upper limbs (HP:0009823)5.56964186
5Aplasia of the phalanges of the hand (HP:0009802)5.56964186
6Aplasia involving bones of the extremities (HP:0009825)5.56964186
7Myokymia (HP:0002411)4.74875056
8Cerebral inclusion bodies (HP:0100314)4.70697075
9Epileptic encephalopathy (HP:0200134)4.51202929
10Clumsiness (HP:0002312)3.85148114
11Focal seizures (HP:0007359)3.82041008
12Hyperventilation (HP:0002883)3.64657870
13Hemiparesis (HP:0001269)3.63990562
14Abnormality of binocular vision (HP:0011514)3.63195685
15Diplopia (HP:0000651)3.63195685
16Supranuclear gaze palsy (HP:0000605)3.52696788
17Broad-based gait (HP:0002136)2.92470945
18Action tremor (HP:0002345)2.91961266
19Dysdiadochokinesis (HP:0002075)2.91053023
20Dysmetria (HP:0001310)2.75161584
21Generalized tonic-clonic seizures (HP:0002069)2.71963833
22Progressive cerebellar ataxia (HP:0002073)2.71817011
23Truncal ataxia (HP:0002078)2.66414398
24Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.65444012
25Degeneration of the lateral corticospinal tracts (HP:0002314)2.65444012
26Cerebral hypomyelination (HP:0006808)2.63280911
27Hemiplegia (HP:0002301)2.62276825
28Thickened helices (HP:0000391)2.62136933
29Hypoplastic left heart (HP:0004383)2.61537095
30Split foot (HP:0001839)2.58221235
31Synostosis involving the elbow (HP:0003938)2.57752373
32Humeroradial synostosis (HP:0003041)2.57752373
33Abnormality of secondary sexual hair (HP:0009888)2.57070360
34Abnormality of the axillary hair (HP:0100134)2.57070360
35Dialeptic seizures (HP:0011146)2.52942571
36Atonic seizures (HP:0010819)2.50175628
37Febrile seizures (HP:0002373)2.46159469
38Abnormality of the middle phalanges of the toes (HP:0010183)2.46048075
39Mutism (HP:0002300)2.45974207
40Abnormality of the labia minora (HP:0012880)2.43291158
41Intention tremor (HP:0002080)2.41271426
42Alacrima (HP:0000522)2.38689579
43Abnormality of the corticospinal tract (HP:0002492)2.37076481
44Abnormal eating behavior (HP:0100738)2.36005401
45Status epilepticus (HP:0002133)2.35662371
46Scanning speech (HP:0002168)2.32753782
47Ankle clonus (HP:0011448)2.31523138
48Spastic gait (HP:0002064)2.31324391
49Absence seizures (HP:0002121)2.31010689
50Visual hallucinations (HP:0002367)2.25029889
51Long nose (HP:0003189)2.24928128
52Medial flaring of the eyebrow (HP:0010747)2.24745278
53Septo-optic dysplasia (HP:0100842)2.23419327
54Congenital primary aphakia (HP:0007707)2.23220466
55True hermaphroditism (HP:0010459)2.22019236
56Anteriorly placed anus (HP:0001545)2.21775508
57Mixed hearing impairment (HP:0000410)2.21750384
58Lower limb muscle weakness (HP:0007340)2.21209244
59Postural instability (HP:0002172)2.20953288
60Amyotrophic lateral sclerosis (HP:0007354)2.20259858
61Gaze-evoked nystagmus (HP:0000640)2.19055543
62Genital tract atresia (HP:0001827)2.18753237
63Peripheral hypomyelination (HP:0007182)2.18617686
64Vaginal atresia (HP:0000148)2.17717561
65Specific learning disability (HP:0001328)2.16424445
66Impaired social interactions (HP:0000735)2.14704366
67Abnormal social behavior (HP:0012433)2.14704366
68Sleep apnea (HP:0010535)2.13634934
69Anxiety (HP:0000739)2.12718043
70Abnormality of the dental pulp (HP:0006479)2.11757331
71Depression (HP:0000716)2.07497492
72Polyphagia (HP:0002591)2.07056432
73Absent speech (HP:0001344)2.04659084
74Optic nerve hypoplasia (HP:0000609)2.04585038
75Epileptiform EEG discharges (HP:0011182)2.04433679
76Retinal dysplasia (HP:0007973)2.03111432
77Termporal pattern (HP:0011008)2.02632421
78Insidious onset (HP:0003587)2.02632421
79Hypoplastic heart (HP:0001961)2.02587340
80Blue irides (HP:0000635)2.01737989
81Nephrogenic diabetes insipidus (HP:0009806)2.01638214
82Rigidity (HP:0002063)2.00044713
83Morphological abnormality of the pyramidal tract (HP:0002062)1.98812883
84Abnormality of the lower motor neuron (HP:0002366)1.98562007
85Impaired vibration sensation in the lower limbs (HP:0002166)1.97975783
86EEG with generalized epileptiform discharges (HP:0011198)1.97681203
87Drooling (HP:0002307)1.96978527
88Excessive salivation (HP:0003781)1.96978527
89Akinesia (HP:0002304)1.96136037
90Incomplete penetrance (HP:0003829)1.91664857
91Urinary bladder sphincter dysfunction (HP:0002839)1.90934063
92Back pain (HP:0003418)1.90528151
93Short hallux (HP:0010109)1.90381207
94Narrow nasal bridge (HP:0000446)1.89717182
95Decreased lacrimation (HP:0000633)1.89126714
96Coronal craniosynostosis (HP:0004440)1.88577947
97Stereotypic behavior (HP:0000733)1.88507465
98Hypsarrhythmia (HP:0002521)1.87503111
99Pheochromocytoma (HP:0002666)1.86707197
100Abnormality of the phalanges of the 2nd finger (HP:0009541)1.86357882
101Inability to walk (HP:0002540)1.85856157
102Spastic tetraparesis (HP:0001285)1.84615931
103Delusions (HP:0000746)1.84400042
104Abnormality of ocular smooth pursuit (HP:0000617)1.83607623
105Generalized myoclonic seizures (HP:0002123)1.83605728
106Leukodystrophy (HP:0002415)1.83425162
107Gait imbalance (HP:0002141)1.83109147
108Poor eye contact (HP:0000817)1.82742869
109Bradykinesia (HP:0002067)1.81764517
110Focal dystonia (HP:0004373)1.79811074
111Taurodontia (HP:0000679)1.79731209
112Abnormality of permanent molar morphology (HP:0011071)1.79731209
113Abnormality of the dental root (HP:0006486)1.79731209
114CNS hypomyelination (HP:0003429)1.77178314
115Urinary urgency (HP:0000012)1.76997940
116Impaired smooth pursuit (HP:0007772)1.76093282
117Pancreatic fibrosis (HP:0100732)1.75936801
118Neuronal loss in central nervous system (HP:0002529)1.75822739
119Decreased central vision (HP:0007663)1.75745783
120Abnormality of molar (HP:0011077)1.74672165
121Abnormality of molar morphology (HP:0011070)1.74672165
122Clonus (HP:0002169)1.74546014
123Symphalangism affecting the phalanges of the hand (HP:0009773)1.74434253
124Confusion (HP:0001289)1.73535948
125Paraparesis (HP:0002385)1.73242899
126Torticollis (HP:0000473)1.73101774
127Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.72487310
128Aplasia/Hypoplasia of the hallux (HP:0008362)1.71925906
129Absent hair (HP:0002298)1.71390885
130Limb dystonia (HP:0002451)1.69994057
131Impaired vibratory sensation (HP:0002495)1.69514592
132Bronchomalacia (HP:0002780)1.68905431
133Sensory axonal neuropathy (HP:0003390)1.68719025
134Amblyopia (HP:0000646)1.67892553
135Slow saccadic eye movements (HP:0000514)1.65653767
136Partial duplication of thumb phalanx (HP:0009944)1.65168606
137Cutaneous finger syndactyly (HP:0010554)1.63600081

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA46.20907677
2CASK3.89302824
3TNIK3.40114756
4NTRK22.85813700
5PHKG22.82659471
6PHKG12.82659471
7NTRK32.80344894
8LMTK22.41180932
9MARK12.29797329
10PRKD32.01057558
11MUSK2.00621620
12MAP3K41.84088464
13OXSR11.83288899
14MAP2K71.81399767
15MAP3K91.77924203
16PRPF4B1.76127200
17MAPK131.68285396
18DAPK21.66957448
19NTRK11.59443300
20FGFR21.59379606
21SGK4941.53959507
22SGK2231.53959507
23MINK11.53097438
24CDK191.52817537
25STK391.51507936
26PAK61.41804646
27RIPK41.34378934
28CDK51.29111691
29DYRK21.28244455
30MAPK151.21280741
31PKN11.19448386
32WNK31.15527697
33KSR21.15487926
34MAP3K131.14443094
35SGK21.08197907
36CAMK2A1.07167488
37EPHB21.07143166
38PRKCG1.03213577
39MAPK121.01448881
40CAMK2B0.99924874
41FGR0.98309172
42TYRO30.98083911
43MAP2K40.96618974
44FRK0.94466642
45MAP4K20.91789289
46PLK20.91400509
47CAMKK10.89302345
48SGK30.87029174
49ADRBK20.85698396
50KSR10.83064587
51CSNK1G30.81275045
52PRKCE0.81191099
53CAMKK20.80626020
54UHMK10.79704847
55CSNK1G20.75594071
56ARAF0.74253778
57CDK150.74237812
58ROCK20.74068148
59CDK180.73555872
60PNCK0.73493150
61CSNK1G10.72949954
62MAPK70.70727067
63MAPKAPK50.70528351
64BMPR20.70365274
65DYRK1A0.70213871
66LATS20.69725192
67PINK10.69597425
68NEK60.68997752
69SGK10.68316586
70CAMK2G0.67629195
71ADRBK10.65659135
72BMPR1B0.65285760
73CDK140.64719465
74SIK10.63613727
75DMPK0.63361078
76CDK11A0.63345760
77CAMK2D0.62795932
78PAK30.62115829
79PRKCH0.61939996
80MARK20.59800201
81CAMK40.58070746
82TSSK60.57810871
83ERBB20.57730076
84FES0.56396643
85CCNB10.54824095
86MKNK20.53259350
87INSRR0.53186122
88PDPK10.52857819
89GRK50.51082057
90STK110.50886385
91CDK30.49690736
92CAMK10.49279175
93MAP3K70.49163857
94SIK20.48748640
95GRK10.48667671
96PTK2B0.48273547
97DAPK10.47863125
98CSNK1A10.47538296
99PRKCQ0.46862399
100MAP3K20.46817982
101PRKG10.45979282
102RAF10.43359256
103RPS6KA30.42966258
104WEE10.41956940
105MAPK100.41571905
106MAP3K120.40536652
107PRKACA0.40510522
108WNK10.40236908
109LIMK10.40203388
110DYRK30.40202375
111AKT30.39367427
112FYN0.39042250
113CSNK1D0.38797313
114PRKCA0.38221191
115ROCK10.37355249
116CSNK1A1L0.37337177
117PDK10.36551539
118PRKCZ0.36365913
119BCR0.36015521
120CAMK1G0.35898838
121PRKACB0.35296759
122RET0.34262429
123GRK60.32514465
124CSNK1E0.30187839
125PRKCB0.27801830
126PLK30.27267089

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.21889747
2Nicotine addiction_Homo sapiens_hsa050333.27111730
3Fatty acid biosynthesis_Homo sapiens_hsa000612.88997403
4GABAergic synapse_Homo sapiens_hsa047272.52390503
5* Glutamatergic synapse_Homo sapiens_hsa047242.41321875
6Morphine addiction_Homo sapiens_hsa050322.28584898
7Circadian entrainment_Homo sapiens_hsa047132.25320358
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.23653815
9Salivary secretion_Homo sapiens_hsa049702.12389071
10Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.07642153
11Olfactory transduction_Homo sapiens_hsa047401.98450260
12Synaptic vesicle cycle_Homo sapiens_hsa047211.92565360
13Long-term potentiation_Homo sapiens_hsa047201.89448182
14Insulin secretion_Homo sapiens_hsa049111.78192455
15Gastric acid secretion_Homo sapiens_hsa049711.78035717
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.75736882
17Amphetamine addiction_Homo sapiens_hsa050311.75417556
18Steroid biosynthesis_Homo sapiens_hsa001001.62425094
19Serotonergic synapse_Homo sapiens_hsa047261.54233939
20Dopaminergic synapse_Homo sapiens_hsa047281.42975137
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.42251134
22Calcium signaling pathway_Homo sapiens_hsa040201.40547439
23Renin secretion_Homo sapiens_hsa049241.39836398
24Taste transduction_Homo sapiens_hsa047421.39085581
25Long-term depression_Homo sapiens_hsa047301.39060822
26Cholinergic synapse_Homo sapiens_hsa047251.35463845
27Fatty acid metabolism_Homo sapiens_hsa012121.33957399
28* Cocaine addiction_Homo sapiens_hsa050301.29027446
29* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27598595
30Oxidative phosphorylation_Homo sapiens_hsa001901.23653124
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.22859262
32Fatty acid elongation_Homo sapiens_hsa000621.22715098
33Aldosterone synthesis and secretion_Homo sapiens_hsa049251.18961964
34Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.18673682
35Axon guidance_Homo sapiens_hsa043601.16986476
36Gap junction_Homo sapiens_hsa045401.15141225
37Parkinsons disease_Homo sapiens_hsa050121.14592132
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.14471466
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.12151233
40cAMP signaling pathway_Homo sapiens_hsa040241.10980475
41Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.05833704
42Dorso-ventral axis formation_Homo sapiens_hsa043201.05669092
43Oxytocin signaling pathway_Homo sapiens_hsa049211.05421043
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.01568172
45Circadian rhythm_Homo sapiens_hsa047101.00475643
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99233912
47Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.98800874
48Ether lipid metabolism_Homo sapiens_hsa005650.97949180
49Pancreatic secretion_Homo sapiens_hsa049720.92872832
50Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92435918
51Collecting duct acid secretion_Homo sapiens_hsa049660.92312666
52Histidine metabolism_Homo sapiens_hsa003400.92291338
53GnRH signaling pathway_Homo sapiens_hsa049120.90962844
54Melanogenesis_Homo sapiens_hsa049160.90180444
55Vitamin B6 metabolism_Homo sapiens_hsa007500.85215217
56Oocyte meiosis_Homo sapiens_hsa041140.84919442
57Sulfur metabolism_Homo sapiens_hsa009200.84000814
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.83903859
59beta-Alanine metabolism_Homo sapiens_hsa004100.82827538
60Bile secretion_Homo sapiens_hsa049760.81441608
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.80850575
62Cardiac muscle contraction_Homo sapiens_hsa042600.78767062
63cGMP-PKG signaling pathway_Homo sapiens_hsa040220.77488945
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.75966563
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.74401448
66* Phospholipase D signaling pathway_Homo sapiens_hsa040720.72576615
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.72184623
68Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70884529
69ErbB signaling pathway_Homo sapiens_hsa040120.70671572
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69891727
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68406577
72Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67553953
73Hedgehog signaling pathway_Homo sapiens_hsa043400.66771513
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64878065
75African trypanosomiasis_Homo sapiens_hsa051430.64843076
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.64748615
77Fatty acid degradation_Homo sapiens_hsa000710.64651762
78Estrogen signaling pathway_Homo sapiens_hsa049150.62241118
79Huntingtons disease_Homo sapiens_hsa050160.61929714
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.59893108
81Hippo signaling pathway_Homo sapiens_hsa043900.59668339
82Protein export_Homo sapiens_hsa030600.58003055
83Thyroid hormone synthesis_Homo sapiens_hsa049180.57521801
84Sphingolipid metabolism_Homo sapiens_hsa006000.57274082
85Basal cell carcinoma_Homo sapiens_hsa052170.57265635
86Mineral absorption_Homo sapiens_hsa049780.56680873
87Alcoholism_Homo sapiens_hsa050340.55978360
88Folate biosynthesis_Homo sapiens_hsa007900.55515440
89Butanoate metabolism_Homo sapiens_hsa006500.55414213
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53710711
91Glioma_Homo sapiens_hsa052140.53460495
92Dilated cardiomyopathy_Homo sapiens_hsa054140.53436335
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53337317
94Arginine and proline metabolism_Homo sapiens_hsa003300.51646450
95Ras signaling pathway_Homo sapiens_hsa040140.50324949
96PPAR signaling pathway_Homo sapiens_hsa033200.49842802
97Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47488978
98Choline metabolism in cancer_Homo sapiens_hsa052310.47122053
99Rap1 signaling pathway_Homo sapiens_hsa040150.46748201
100Propanoate metabolism_Homo sapiens_hsa006400.46025598
101Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45906414
102Vibrio cholerae infection_Homo sapiens_hsa051100.45011110
103Phototransduction_Homo sapiens_hsa047440.43596186
104MAPK signaling pathway_Homo sapiens_hsa040100.43214848
105Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43032274
106Glycerolipid metabolism_Homo sapiens_hsa005610.38037764
107Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.35990521
108Alzheimers disease_Homo sapiens_hsa050100.35793420
109Renal cell carcinoma_Homo sapiens_hsa052110.33907718
110Ovarian steroidogenesis_Homo sapiens_hsa049130.33663459
111Glucagon signaling pathway_Homo sapiens_hsa049220.33597847
112Wnt signaling pathway_Homo sapiens_hsa043100.33433231
113Type II diabetes mellitus_Homo sapiens_hsa049300.32736102
114SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32178685
115Prion diseases_Homo sapiens_hsa050200.30725459
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29489652
117Peroxisome_Homo sapiens_hsa041460.23615543

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