SLC1A3

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 member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)8.21879865
2central nervous system myelination (GO:0022010)8.21879865
3gamma-aminobutyric acid transport (GO:0015812)4.96188241
4* L-amino acid import (GO:0043092)4.82038866
5cellular potassium ion homeostasis (GO:0030007)4.53688837
6neuronal action potential propagation (GO:0019227)4.50622654
7* amino acid import (GO:0043090)4.49874914
8regulation of synapse structural plasticity (GO:0051823)4.31696968
9cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.27666441
10regulation of cardiac muscle cell contraction (GO:0086004)4.26457389
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.25210714
12negative regulation of synaptic transmission, GABAergic (GO:0032229)4.16926276
13astrocyte differentiation (GO:0048708)4.13825820
14myelination (GO:0042552)4.09716419
15ensheathment of neurons (GO:0007272)3.99654826
16axon ensheathment (GO:0008366)3.99654826
17locomotory exploration behavior (GO:0035641)3.92967574
18neuron cell-cell adhesion (GO:0007158)3.90943764
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.90093559
20presynaptic membrane assembly (GO:0097105)3.82636141
21cerebellar granule cell differentiation (GO:0021707)3.79671882
22sodium ion export (GO:0071436)3.71942707
23presynaptic membrane organization (GO:0097090)3.71182666
24regulation of synaptic vesicle transport (GO:1902803)3.68935384
25potassium ion import (GO:0010107)3.65602074
26fatty acid elongation (GO:0030497)3.58057475
27neurotransmitter secretion (GO:0007269)3.57098143
28negative regulation of protein localization to cell surface (GO:2000009)3.54438678
29neurotransmitter-gated ion channel clustering (GO:0072578)3.51471003
30ionotropic glutamate receptor signaling pathway (GO:0035235)3.51325267
31membrane assembly (GO:0071709)3.46640750
32transmission of nerve impulse (GO:0019226)3.41920573
33L-serine transport (GO:0015825)3.41809839
34negative regulation of astrocyte differentiation (GO:0048712)3.38422990
35negative regulation of neurotransmitter transport (GO:0051589)3.37597765
36neuronal ion channel clustering (GO:0045161)3.37382414
37glutamate receptor signaling pathway (GO:0007215)3.36359507
38positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.36326187
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.36039931
40cerebral cortex radially oriented cell migration (GO:0021799)3.35920468
41dermatan sulfate biosynthetic process (GO:0030208)3.31880682
42regulation of beta-amyloid formation (GO:1902003)3.30391438
43oligodendrocyte differentiation (GO:0048709)3.29694011
44cellular sodium ion homeostasis (GO:0006883)3.27806227
45negative regulation of cytosolic calcium ion concentration (GO:0051481)3.27000757
46dendritic spine morphogenesis (GO:0060997)3.26217275
47regulation of actin filament-based movement (GO:1903115)3.25218960
48positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.23021212
49G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.21884210
50regulation of voltage-gated calcium channel activity (GO:1901385)3.20647589
51vocalization behavior (GO:0071625)3.18461299
52negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.18370685
53potassium ion homeostasis (GO:0055075)3.17428514
54regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.15564943
55cellular response to cholesterol (GO:0071397)3.15130360
56regulation of neurotransmitter transport (GO:0051588)3.13849609
57gamma-aminobutyric acid signaling pathway (GO:0007214)3.13436707
58synaptic transmission, glutamatergic (GO:0035249)3.13260054
59* C4-dicarboxylate transport (GO:0015740)3.11854238
60regulation of neurotransmitter secretion (GO:0046928)3.11668501
61regulation of short-term neuronal synaptic plasticity (GO:0048172)3.10805720
62* neurotransmitter uptake (GO:0001504)3.06509695
63synaptic vesicle maturation (GO:0016188)3.06002146
64long-chain fatty acid biosynthetic process (GO:0042759)3.05881963
65* mechanosensory behavior (GO:0007638)3.05512545
66cerebellar Purkinje cell layer development (GO:0021680)3.04109656
67regulation of respiratory gaseous exchange (GO:0043576)3.03718371
68regulation of cell communication by electrical coupling (GO:0010649)3.01284268
69peripheral nervous system axon ensheathment (GO:0032292)3.00940768
70myelination in peripheral nervous system (GO:0022011)3.00940768
71dermatan sulfate metabolic process (GO:0030205)3.00597371
72response to methylmercury (GO:0051597)2.99942653
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.99873424
74* neurotransmitter transport (GO:0006836)2.99775757
75postsynaptic membrane organization (GO:0001941)2.99025924
76alanine transport (GO:0032328)2.98522238
77regulation of neurotransmitter uptake (GO:0051580)2.97048023
78cell communication by electrical coupling (GO:0010644)2.96640815
79regulation of dendritic spine development (GO:0060998)2.96349842
80positive regulation of membrane potential (GO:0045838)2.95508944
81synaptic vesicle endocytosis (GO:0048488)2.95160736
82adult walking behavior (GO:0007628)2.93347357
83regulation of dendritic spine morphogenesis (GO:0061001)2.92895548
84* acidic amino acid transport (GO:0015800)2.91730057
85regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.90917959
86long-term synaptic potentiation (GO:0060291)2.90218870
87* auditory behavior (GO:0031223)2.89769026
88glutamate secretion (GO:0014047)2.89757665
89regulation of excitatory postsynaptic membrane potential (GO:0060079)2.88335264
90regulation of neuronal synaptic plasticity (GO:0048168)2.88210093
91neuromuscular synaptic transmission (GO:0007274)2.86474353
92low-density lipoprotein particle remodeling (GO:0034374)2.85554231
93* regulation of neurotransmitter levels (GO:0001505)2.85318930
94glycine transport (GO:0015816)2.85080691
95dendrite morphogenesis (GO:0048813)2.84376035
96eye photoreceptor cell differentiation (GO:0001754)2.83958446
97photoreceptor cell differentiation (GO:0046530)2.83958446
98serine transport (GO:0032329)2.83371835
99regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.81723987
100negative regulation of neurotransmitter secretion (GO:0046929)2.81035517
101regulation of amyloid precursor protein catabolic process (GO:1902991)2.79718755
102establishment of mitochondrion localization (GO:0051654)2.77338211
103positive regulation of synapse maturation (GO:0090129)2.76882161
104response to dietary excess (GO:0002021)2.76707315
105* response to auditory stimulus (GO:0010996)2.75952138
106cell communication involved in cardiac conduction (GO:0086065)2.75251959
107membrane depolarization during action potential (GO:0086010)2.74845550
108membrane tubulation (GO:0097320)2.74530613
109regulation of respiratory system process (GO:0044065)2.74500572
110positive regulation of cellular amide metabolic process (GO:0034250)2.73938867
111neuron-neuron synaptic transmission (GO:0007270)2.73505550
112chondroitin sulfate catabolic process (GO:0030207)2.72519016
113regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.71796809
114negative regulation of Rho protein signal transduction (GO:0035024)2.70807016
115negative regulation of sodium ion transport (GO:0010766)2.70593035
116regulation of synaptic transmission, glutamatergic (GO:0051966)2.70388796
117regulation of long-term neuronal synaptic plasticity (GO:0048169)2.69888113
118long-term memory (GO:0007616)2.69098812
119myelin maintenance (GO:0043217)2.68895067
120synaptic vesicle exocytosis (GO:0016079)2.68682457
121exploration behavior (GO:0035640)2.67360002
122positive regulation of dendritic spine development (GO:0060999)2.65909084
123positive regulation of synapse assembly (GO:0051965)2.62224576
124cellular response to sterol (GO:0036315)2.62217218
125protein localization to synapse (GO:0035418)2.61857640
126regulation of glutamate receptor signaling pathway (GO:1900449)2.60908586
127positive regulation of potassium ion transmembrane transport (GO:1901381)2.59838025
128regulation of phospholipid biosynthetic process (GO:0071071)2.58582611
129layer formation in cerebral cortex (GO:0021819)2.57947562
130atrial cardiac muscle cell action potential (GO:0086014)2.57776921
131positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.57292000
132regulation of synaptic vesicle exocytosis (GO:2000300)2.56557226
133neuron recognition (GO:0008038)2.56523181
134astrocyte development (GO:0014002)2.56066468
135axonal fasciculation (GO:0007413)2.54555930
136import into cell (GO:0098657)2.54283388

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.54008310
2GBX2_23144817_ChIP-Seq_PC3_Human3.56057788
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01460793
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.88447880
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79294611
6NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.77416776
7SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.59832212
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50361887
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50361887
10EED_16625203_ChIP-ChIP_MESCs_Mouse2.49764581
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46177683
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.40854408
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37690950
14AR_21572438_ChIP-Seq_LNCaP_Human2.36189878
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.32663360
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.31526795
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20466971
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.12664237
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.03770042
20* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.92652042
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.91839639
22DROSHA_22980978_ChIP-Seq_HELA_Human1.85623689
23REST_21632747_ChIP-Seq_MESCs_Mouse1.85098900
24CDX2_19796622_ChIP-Seq_MESCs_Mouse1.72471911
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.72321587
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.71728499
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.65843456
28PIAS1_25552417_ChIP-Seq_VCAP_Human1.64366900
29CBX2_27304074_Chip-Seq_ESCs_Mouse1.63199980
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60363455
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.58759925
32* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58327526
33* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.57003253
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.55842408
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52055145
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50665557
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49924242
38TP53_16413492_ChIP-PET_HCT116_Human1.48288022
39ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.47394578
40RARB_27405468_Chip-Seq_BRAIN_Mouse1.47298094
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.46111064
42P300_19829295_ChIP-Seq_ESCs_Human1.45923663
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.45154097
44TAF15_26573619_Chip-Seq_HEK293_Human1.43306330
45NR3C1_21868756_ChIP-Seq_MCF10A_Human1.37542840
46* SMAD4_21799915_ChIP-Seq_A2780_Human1.36082112
47VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.34456069
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31954617
49* REST_18959480_ChIP-ChIP_MESCs_Mouse1.29888794
50POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.29394971
51TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29394971
52* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.26365069
53* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25770301
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25539141
55TP53_18474530_ChIP-ChIP_U2OS_Human1.25186387
56* STAT3_23295773_ChIP-Seq_U87_Human1.25050216
57AR_25329375_ChIP-Seq_VCAP_Human1.23344858
58ER_23166858_ChIP-Seq_MCF-7_Human1.21522128
59PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.21001166
60AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20572388
61* SOX9_26525672_Chip-Seq_HEART_Mouse1.20392404
62* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.19161882
63* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.17106143
64* RING1B_27294783_Chip-Seq_ESCs_Mouse1.16896860
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16259418
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16093010
67* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16035702
68FUS_26573619_Chip-Seq_HEK293_Human1.13553968
69* ARNT_22903824_ChIP-Seq_MCF-7_Human1.13495089
70SMAD_19615063_ChIP-ChIP_OVARY_Human1.13223500
71* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13020013
72WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12408994
73KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.11181580
74RXR_22108803_ChIP-Seq_LS180_Human1.11166919
75BCAT_22108803_ChIP-Seq_LS180_Human1.10896558
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10102902
77NRF2_20460467_ChIP-Seq_MEFs_Mouse1.09523476
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.09523476
79RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07549905
80CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.07296593
81* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07036071
82* SOX2_21211035_ChIP-Seq_LN229_Gbm1.06407408
83GATA1_26923725_Chip-Seq_HPCs_Mouse1.06363297
84* PRDM14_20953172_ChIP-Seq_ESCs_Human1.05985311
85ERG_21242973_ChIP-ChIP_JURKAT_Human1.05152231
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04529979
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04082117
88NANOG_18555785_Chip-Seq_ESCs_Mouse1.03995782
89VDR_22108803_ChIP-Seq_LS180_Human1.03659101
90* RUNX2_22187159_ChIP-Seq_PCA_Human1.03533851
91TCF4_23295773_ChIP-Seq_U87_Human1.03491082
92LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03367425
93* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02940778
94TRIM28_21343339_ChIP-Seq_HEK293_Human1.02161300
95RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.01985545
96CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01532971
97* EP300_21415370_ChIP-Seq_HL-1_Mouse1.01290214
98TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00781430
99* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99424058
100TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.99415825
101KDM2B_26808549_Chip-Seq_REH_Human0.99413294
102RING1B_27294783_Chip-Seq_NPCs_Mouse0.98935406
103SMAD3_21741376_ChIP-Seq_ESCs_Human0.97865084
104MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.97759429
105* JUN_21703547_ChIP-Seq_K562_Human0.97396224
106NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95982664
107CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.95924244
108* AR_19668381_ChIP-Seq_PC3_Human0.95897585
109* AHR_22903824_ChIP-Seq_MCF-7_Human0.95277897
110* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94912235
111* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94618956
112* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94283144
113ZNF274_21170338_ChIP-Seq_K562_Hela0.93977501
114EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93834591
115EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.92989435
116CMYC_18555785_Chip-Seq_ESCs_Mouse0.92514190
117* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91718204
118IGF1R_20145208_ChIP-Seq_DFB_Human0.90566815
119RNF2_27304074_Chip-Seq_NSC_Mouse0.90291641
120E2F1_18555785_Chip-Seq_ESCs_Mouse0.89011352
121* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.88194757
122POU5F1_16153702_ChIP-ChIP_HESCs_Human0.86990191

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.68950015
2MP0003329_amyloid_beta_deposits3.59273859
3MP0003136_yellow_coat_color3.50733381
4MP0004270_analgesia3.40163236
5MP0003690_abnormal_glial_cell3.31962417
6MP0003880_abnormal_central_pattern3.13738058
7MP0004885_abnormal_endolymph3.05566530
8MP0005423_abnormal_somatic_nervous3.04183032
9MP0001486_abnormal_startle_reflex2.88986159
10* MP0003635_abnormal_synaptic_transmissio2.81000234
11MP0000920_abnormal_myelination2.73495648
12MP0009046_muscle_twitch2.60321929
13MP0005171_absent_coat_pigmentation2.58137538
14* MP0002064_seizures2.48319614
15* MP0009745_abnormal_behavioral_response2.38236964
16MP0002272_abnormal_nervous_system2.32628174
17MP0002063_abnormal_learning/memory/cond2.10968493
18MP0002572_abnormal_emotion/affect_behav2.08920554
19MP0008569_lethality_at_weaning2.06919702
20MP0003634_abnormal_glial_cell2.04523123
21MP0001485_abnormal_pinna_reflex2.00944551
22MP0002734_abnormal_mechanical_nocicepti1.97110747
23MP0004858_abnormal_nervous_system1.97059573
24MP0001440_abnormal_grooming_behavior1.92906555
25MP0000778_abnormal_nervous_system1.91121989
26MP0003632_abnormal_nervous_system1.89683935
27MP0009384_cardiac_valve_regurgitation1.86649614
28MP0000604_amyloidosis1.86011307
29MP0001968_abnormal_touch/_nociception1.72052759
30MP0002067_abnormal_sensory_capabilities1.71790232
31MP0004742_abnormal_vestibular_system1.70402949
32MP0000566_synostosis1.68225483
33MP0005646_abnormal_pituitary_gland1.64256838
34* MP0003631_nervous_system_phenotype1.63315160
35MP0004142_abnormal_muscle_tone1.59576953
36* MP0003633_abnormal_nervous_system1.58967430
37MP0002653_abnormal_ependyma_morphology1.52010131
38MP0001970_abnormal_pain_threshold1.51424260
39MP0002733_abnormal_thermal_nociception1.49706111
40MP0002736_abnormal_nociception_after1.48803238
41MP0005409_darkened_coat_color1.48604276
42MP0001905_abnormal_dopamine_level1.47548149
43MP0002557_abnormal_social/conspecific_i1.41961871
44MP0001501_abnormal_sleep_pattern1.40961357
45MP0004043_abnormal_pH_regulation1.39559466
46MP0005167_abnormal_blood-brain_barrier1.39489978
47MP0001502_abnormal_circadian_rhythm1.36949894
48MP0006276_abnormal_autonomic_nervous1.35977719
49* MP0005551_abnormal_eye_electrophysiolog1.31435457
50* MP0002882_abnormal_neuron_morphology1.30395760
51MP0009780_abnormal_chondrocyte_physiolo1.29638223
52MP0004924_abnormal_behavior1.29309961
53MP0005386_behavior/neurological_phenoty1.29309961
54MP0001529_abnormal_vocalization1.29275386
55MP0005645_abnormal_hypothalamus_physiol1.28228072
56MP0000955_abnormal_spinal_cord1.28164047
57MP0004145_abnormal_muscle_electrophysio1.27912093
58MP0005248_abnormal_Harderian_gland1.26017396
59* MP0002229_neurodegeneration1.23044793
60* MP0002066_abnormal_motor_capabilities/c1.21354441
61MP0002254_reproductive_system_inflammat1.20696400
62MP0000569_abnormal_digit_pigmentation1.20048682
63MP0003075_altered_response_to1.17128651
64MP0003950_abnormal_plasma_membrane1.15665902
65MP0002184_abnormal_innervation1.13439173
66MP0000579_abnormal_nail_morphology1.10948837
67* MP0001963_abnormal_hearing_physiology1.10192606
68MP0001984_abnormal_olfaction1.09393212
69* MP0002152_abnormal_brain_morphology1.06939343
70MP0005410_abnormal_fertilization1.03140925
71MP0003137_abnormal_impulse_conducting1.02847329
72MP0001986_abnormal_taste_sensitivity1.02023601
73MP0002735_abnormal_chemical_nociception1.00878029
74MP0001299_abnormal_eye_distance/0.97293621
75MP0002139_abnormal_hepatobiliary_system0.94727841
76* MP0002752_abnormal_somatic_nervous0.94479312
77MP0005253_abnormal_eye_physiology0.94438937
78MP0001177_atelectasis0.91958030
79MP0003011_delayed_dark_adaptation0.91934806
80MP0001188_hyperpigmentation0.91159527
81MP0003879_abnormal_hair_cell0.90106272
82* MP0000026_abnormal_inner_ear0.87355096
83MP0000049_abnormal_middle_ear0.85463360
84MP0003878_abnormal_ear_physiology0.85373692
85MP0005377_hearing/vestibular/ear_phenot0.85373692
86MP0005187_abnormal_penis_morphology0.84806637
87MP0006072_abnormal_retinal_apoptosis0.83437522
88MP0000631_abnormal_neuroendocrine_gland0.81119221
89MP0004215_abnormal_myocardial_fiber0.78560247
90* MP0005195_abnormal_posterior_eye0.78482929
91MP0002090_abnormal_vision0.78126885
92MP0002638_abnormal_pupillary_reflex0.75300005
93MP0003787_abnormal_imprinting0.73706999
94MP0005394_taste/olfaction_phenotype0.73047564
95MP0005499_abnormal_olfactory_system0.73047564
96MP0002249_abnormal_larynx_morphology0.72476906
97MP0003868_abnormal_feces_composition0.68839072
98MP0003861_abnormal_nervous_system0.68468806
99MP0004811_abnormal_neuron_physiology0.68258738
100MP0001346_abnormal_lacrimal_gland0.68119355
101MP0009250_abnormal_appendicular_skeleto0.67301595
102MP0004134_abnormal_chest_morphology0.67247583
103MP0003938_abnormal_ear_development0.66593069
104MP0005595_abnormal_vascular_smooth0.65511835
105MP0002089_abnormal_postnatal_growth/wei0.64969969
106MP0003279_aneurysm0.63861255
107MP0000534_abnormal_ureter_morphology0.63001890
108MP0005391_vision/eye_phenotype0.62551027
109MP0005647_abnormal_sex_gland0.61559459
110MP0001958_emphysema0.60650824
111MP0001664_abnormal_digestion0.60639160
112MP0002069_abnormal_eating/drinking_beha0.60128389
113MP0000647_abnormal_sebaceous_gland0.59984163
114MP0001943_abnormal_respiration0.58730673
115MP0000462_abnormal_digestive_system0.58524390
116MP0000372_irregular_coat_pigmentation0.57697837
117MP0002822_catalepsy0.57494978
118MP0002909_abnormal_adrenal_gland0.57179411
119MP0003122_maternal_imprinting0.55068249
120MP0010769_abnormal_survival0.53663938
121MP0010770_preweaning_lethality0.52707124
122MP0002082_postnatal_lethality0.52707124

Predicted human phenotypes

RankGene SetZ-score
1Neurofibrillary tangles (HP:0002185)5.70022538
2Aplasia involving bones of the upper limbs (HP:0009823)5.68137406
3Aplasia of the phalanges of the hand (HP:0009802)5.68137406
4Aplasia involving bones of the extremities (HP:0009825)5.68137406
5Megalencephaly (HP:0001355)4.83972152
6Parakeratosis (HP:0001036)4.34813004
7Focal motor seizures (HP:0011153)4.32015263
8Cerebral inclusion bodies (HP:0100314)4.14506813
9Synostosis involving the elbow (HP:0003938)3.92550605
10Humeroradial synostosis (HP:0003041)3.92550605
11Myokymia (HP:0002411)3.68595298
12Degeneration of the lateral corticospinal tracts (HP:0002314)3.64035266
13Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.64035266
14Abnormality of binocular vision (HP:0011514)3.53944754
15Diplopia (HP:0000651)3.53944754
16Supranuclear gaze palsy (HP:0000605)3.53104606
17Action tremor (HP:0002345)3.43954314
18Anteriorly placed anus (HP:0001545)3.35539859
19Hypoplastic left heart (HP:0004383)3.35200794
20Clumsiness (HP:0002312)3.20515892
21* Hemiparesis (HP:0001269)3.20169308
22Epileptic encephalopathy (HP:0200134)3.18564470
23Abnormality of the corticospinal tract (HP:0002492)3.09108525
24Split foot (HP:0001839)2.98241008
25Dysdiadochokinesis (HP:0002075)2.92346565
26Tetraplegia (HP:0002445)2.89183302
27Focal seizures (HP:0007359)2.88230324
28Scanning speech (HP:0002168)2.83828079
29Hypoplastic pelvis (HP:0008839)2.82604091
30Dysmetria (HP:0001310)2.81756702
31Intention tremor (HP:0002080)2.74281868
32Abnormality of the diencephalon (HP:0010662)2.69214656
33Progressive cerebellar ataxia (HP:0002073)2.64986709
34Hypoplastic heart (HP:0001961)2.58230501
35Mutism (HP:0002300)2.58037045
36Peripheral hypomyelination (HP:0007182)2.53046568
37Drooling (HP:0002307)2.53014925
38Abnormality of the axillary hair (HP:0100134)2.52163891
39Abnormality of secondary sexual hair (HP:0009888)2.52163891
40Mixed hearing impairment (HP:0000410)2.52127166
41Insidious onset (HP:0003587)2.50362611
42Termporal pattern (HP:0011008)2.50362611
43Confusion (HP:0001289)2.47885291
44Symphalangism affecting the phalanges of the hand (HP:0009773)2.46529850
45Abnormality of the middle phalanges of the toes (HP:0010183)2.45748287
46Gait imbalance (HP:0002141)2.40047379
47Spastic tetraparesis (HP:0001285)2.37083909
48Spastic gait (HP:0002064)2.36610604
49Pheochromocytoma (HP:0002666)2.32404073
50Retinal dysplasia (HP:0007973)2.31167042
51Excessive salivation (HP:0003781)2.30251575
52Urinary bladder sphincter dysfunction (HP:0002839)2.29835215
53Coronal craniosynostosis (HP:0004440)2.26975185
54Gaze-evoked nystagmus (HP:0000640)2.26771514
55Ankle clonus (HP:0011448)2.26238415
56Polyphagia (HP:0002591)2.25894148
57Long nose (HP:0003189)2.19529089
58Hepatoblastoma (HP:0002884)2.19361035
59Limb dystonia (HP:0002451)2.19189419
60Absent septum pellucidum (HP:0001331)2.18499740
61Postural tremor (HP:0002174)2.17602463
62Alacrima (HP:0000522)2.14890741
63Abnormal auditory evoked potentials (HP:0006958)2.13050162
64Generalized tonic-clonic seizures (HP:0002069)2.12841328
65Lower limb muscle weakness (HP:0007340)2.11104972
66Hyperventilation (HP:0002883)2.10398972
67Metabolic alkalosis (HP:0200114)2.07640695
68Impaired vibration sensation in the lower limbs (HP:0002166)2.07270250
69Fibular aplasia (HP:0002990)2.06220494
70Poor eye contact (HP:0000817)2.05660695
71Relative macrocephaly (HP:0004482)2.05590336
72Astrocytoma (HP:0009592)2.05160085
73Abnormality of the astrocytes (HP:0100707)2.05160085
74Short hallux (HP:0010109)2.03174570
75Atonic seizures (HP:0010819)1.99648154
76Thickened helices (HP:0000391)1.99425426
77Dialeptic seizures (HP:0011146)1.98683489
78Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.98489016
79Postural instability (HP:0002172)1.98417765
80Nasolacrimal duct obstruction (HP:0000579)1.97947592
81Neuronal loss in central nervous system (HP:0002529)1.97665389
82Broad-based gait (HP:0002136)1.97349280
83White forelock (HP:0002211)1.97185413
84Increased circulating renin level (HP:0000848)1.96890443
85Lower limb asymmetry (HP:0100559)1.96663656
86Microglossia (HP:0000171)1.96603141
87Visual hallucinations (HP:0002367)1.96387931
88Turricephaly (HP:0000262)1.96385068
89Abnormality of placental membranes (HP:0011409)1.95627711
90Amniotic constriction ring (HP:0009775)1.95627711
91Stereotypic behavior (HP:0000733)1.95376026
92Hypoplasia of the corpus callosum (HP:0002079)1.94045081
93Epileptiform EEG discharges (HP:0011182)1.92889539
94Congenital primary aphakia (HP:0007707)1.90671212
95Delusions (HP:0000746)1.90134973
96Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.88115397
97Glioma (HP:0009733)1.87407160
98Urinary urgency (HP:0000012)1.87397616
99Neuroendocrine neoplasm (HP:0100634)1.87173828
100Annular pancreas (HP:0001734)1.86809717
101Abnormal eating behavior (HP:0100738)1.86001975
102Impaired social interactions (HP:0000735)1.85667154
103Abnormal social behavior (HP:0012433)1.85667154
104Depression (HP:0000716)1.85594235
105Specific learning disability (HP:0001328)1.85456275
106Medial flaring of the eyebrow (HP:0010747)1.85082888
107Absent speech (HP:0001344)1.84461215
108Ulnar claw (HP:0001178)1.83449476
109Torticollis (HP:0000473)1.82856273
110Hammertoe (HP:0001765)1.81216270
111Patchy hypopigmentation of hair (HP:0011365)1.80264534
112Oligodactyly (hands) (HP:0001180)1.79757113
113Apathy (HP:0000741)1.79434100
114Bronchomalacia (HP:0002780)1.79352448
115Large for gestational age (HP:0001520)1.79278503
116Anxiety (HP:0000739)1.78236211
117Epidermoid cyst (HP:0200040)1.78168644
118Abnormality of the septum pellucidum (HP:0007375)1.76805391
119Abnormality of the phalanges of the 2nd finger (HP:0009541)1.76656057
120Narrow nasal bridge (HP:0000446)1.75552897
121Morphological abnormality of the inner ear (HP:0011390)1.74524220
122* Truncal ataxia (HP:0002078)1.74345108
123Myelomeningocele (HP:0002475)1.74244343
124Abnormality of the dental pulp (HP:0006479)1.74071869
125Aplasia/Hypoplasia of the hallux (HP:0008362)1.73909179
126Status epilepticus (HP:0002133)1.73554162
127Neoplasm of the peripheral nervous system (HP:0100007)1.73086118
128Amyotrophic lateral sclerosis (HP:0007354)1.72844231
129EEG with generalized epileptiform discharges (HP:0011198)1.72527415
130Methylmalonic acidemia (HP:0002912)1.72288649
131Paraparesis (HP:0002385)1.71652385
132* Hemiplegia (HP:0002301)1.70631747
133Spastic paraplegia (HP:0001258)1.70182424
134Hypophosphatemic rickets (HP:0004912)1.69967829
135Bradykinesia (HP:0002067)1.68920044
136Absence seizures (HP:0002121)1.68397211
137Exercise-induced muscle cramps (HP:0003710)1.67668557
138Abnormality of the lower motor neuron (HP:0002366)1.67416012
139Febrile seizures (HP:0002373)1.67239993
140Hypsarrhythmia (HP:0002521)1.66626138
141Slow saccadic eye movements (HP:0000514)1.66571649
142Abnormality of the nasolacrimal system (HP:0000614)1.66430434
143Generalized myoclonic seizures (HP:0002123)1.66419224
144Abnormality of permanent molar morphology (HP:0011071)1.66344604
145Abnormality of the dental root (HP:0006486)1.66344604
146Taurodontia (HP:0000679)1.66344604
147Obstructive sleep apnea (HP:0002870)1.66313521
148Nephrogenic diabetes insipidus (HP:0009806)1.66219559
149Broad ribs (HP:0000885)1.65924279
150Abnormality of the periventricular white matter (HP:0002518)1.65511420
151Papillary thyroid carcinoma (HP:0002895)1.65495160
152Blue irides (HP:0000635)1.65345892
153True hermaphroditism (HP:0010459)1.64067846

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK5.60707713
2TNIK3.91925235
3STK393.32113590
4EPHA43.25171107
5NTRK22.65226351
6OXSR12.61297284
7CASK2.51046932
8EPHB12.23498789
9PHKG12.23492664
10PHKG22.23492664
11NTRK32.08584331
12LMTK21.94893272
13PRKD31.93349746
14MARK11.78598631
15PAK61.60272352
16NTRK11.50700655
17PKN11.49820679
18MAPKAPK51.44718429
19MAPK131.42794281
20SGK4941.37954792
21SGK2231.37954792
22MAPK151.36015578
23WNK11.34863016
24MAP2K71.32299529
25FGFR21.31139707
26MST41.30115456
27MAPK121.25308522
28CDK191.24778048
29FGR1.21145069
30CDK51.20158675
31PDK21.18139035
32KSR21.17860123
33PBK1.17678742
34NEK61.13119243
35MINK11.06047064
36CAMK2A1.05653248
37WNK41.04759343
38ROCK21.04719653
39MKNK21.03032649
40BMPR1B1.02302815
41KSR11.02280595
42MAP3K41.00434584
43CAMK2B1.00249700
44PNCK1.00117515
45UHMK10.99882379
46MET0.97520095
47DAPK20.93411819
48TYRO30.90885423
49PRKCG0.90115191
50IRAK20.89589194
51PAK30.87446699
52CCNB10.86413779
53MARK20.86182918
54CAMK2D0.85797009
55PRKCH0.85486113
56ERBB40.84088258
57PRKCE0.83578012
58EPHB20.83522130
59FES0.82657878
60PRPF4B0.81417072
61CAMK1G0.80569222
62RIPK10.77414384
63CAMK2G0.77062972
64PDGFRA0.75014868
65DYRK1A0.73461756
66BCR0.72696147
67MOS0.72610119
68CDK150.70797396
69ERBB20.68234813
70MAPK100.68220818
71WNK30.67205778
72PRKG10.67155030
73CDK180.66084858
74MAP3K90.65679558
75SGK20.65577311
76CDK30.65304758
77PRKCQ0.64580404
78PINK10.64224578
79RAF10.63195761
80ROCK10.63030905
81CSNK1G20.62860484
82FYN0.62806204
83PRKD20.62266673
84MAPK70.61922545
85CDK140.61780029
86CDK11A0.60736661
87DDR20.59874822
88NEK90.59455351
89DYRK20.59404368
90EPHA30.58770349
91CAMKK20.57106279
92STK110.55573997
93MAP3K130.55181557
94CSNK1G10.54415480
95CAMK10.54244241
96LATS20.53937597
97PRKD10.52984547
98CLK10.52962796
99CAMKK10.52664640
100CSNK1D0.52661731
101CSNK1A1L0.51475967
102PRKCZ0.51248934
103STK380.50300915
104GRK50.49446828
105PDPK10.47401439
106PLK20.45985448
107SGK30.45786548
108PRKACA0.45377660
109TESK20.44857783
110CSNK1A10.43997447
111CSNK1G30.43429803
112* SGK10.43329304
113PRKACB0.42875564
114MKNK10.42660665
115MAP2K40.42506550
116ICK0.41543700
117PDGFRB0.41206612
118ADRBK10.40854480
119RPS6KA30.39931899
120PRKCA0.38464768
121RIPK40.38439874
122CAMK40.37935688
123PIK3CA0.37735298
124WEE10.34703508
125TSSK60.34690002
126PRKDC0.33619071
127FRK0.32289665
128FGFR10.31073489
129BMPR20.29923590
130TNK20.29802421

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.39928763
2Nicotine addiction_Homo sapiens_hsa050332.93400791
3Steroid biosynthesis_Homo sapiens_hsa001002.83166664
4Fatty acid biosynthesis_Homo sapiens_hsa000612.58866051
5GABAergic synapse_Homo sapiens_hsa047272.52208939
6* Glutamatergic synapse_Homo sapiens_hsa047242.38685812
7Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.35352102
8Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.21645008
9Fatty acid elongation_Homo sapiens_hsa000622.14594989
10Ether lipid metabolism_Homo sapiens_hsa005652.11839467
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.06407309
12Morphine addiction_Homo sapiens_hsa050321.96384592
13Salivary secretion_Homo sapiens_hsa049701.90729722
14Circadian entrainment_Homo sapiens_hsa047131.82874166
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.81775573
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72128872
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.70972500
18Gastric acid secretion_Homo sapiens_hsa049711.63560994
19Fatty acid metabolism_Homo sapiens_hsa012121.51797758
20Long-term depression_Homo sapiens_hsa047301.49112088
21Serotonergic synapse_Homo sapiens_hsa047261.36779401
22Insulin secretion_Homo sapiens_hsa049111.36035978
23Long-term potentiation_Homo sapiens_hsa047201.34964506
24Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.31060215
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26961355
26Olfactory transduction_Homo sapiens_hsa047401.26512846
27Renin secretion_Homo sapiens_hsa049241.21919789
28Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.20383779
29Taste transduction_Homo sapiens_hsa047421.19231526
30Calcium signaling pathway_Homo sapiens_hsa040201.17119934
31Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.16671086
32Sulfur metabolism_Homo sapiens_hsa009201.16604456
33Cocaine addiction_Homo sapiens_hsa050301.14976738
34Cholinergic synapse_Homo sapiens_hsa047251.14690074
35Amphetamine addiction_Homo sapiens_hsa050311.12407450
36Axon guidance_Homo sapiens_hsa043601.08052609
37Dorso-ventral axis formation_Homo sapiens_hsa043201.05840434
38beta-Alanine metabolism_Homo sapiens_hsa004101.05805400
39Synaptic vesicle cycle_Homo sapiens_hsa047211.05665603
40Butanoate metabolism_Homo sapiens_hsa006501.04385163
41Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.03858482
42Dopaminergic synapse_Homo sapiens_hsa047281.03685623
43Glycerophospholipid metabolism_Homo sapiens_hsa005641.03014593
44Glioma_Homo sapiens_hsa052141.01670188
45Pancreatic secretion_Homo sapiens_hsa049721.01233839
46Mineral absorption_Homo sapiens_hsa049781.00539513
47Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.99078872
48Prion diseases_Homo sapiens_hsa050200.98503983
49alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.98342428
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97286646
51Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.97199239
52Sphingolipid metabolism_Homo sapiens_hsa006000.95793818
53Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.93779998
54cAMP signaling pathway_Homo sapiens_hsa040240.91468128
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89029951
56Bile secretion_Homo sapiens_hsa049760.85986037
57Aldosterone synthesis and secretion_Homo sapiens_hsa049250.85091352
58Cardiac muscle contraction_Homo sapiens_hsa042600.84817563
59Gap junction_Homo sapiens_hsa045400.84387620
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.83208724
61PPAR signaling pathway_Homo sapiens_hsa033200.82991554
62Melanogenesis_Homo sapiens_hsa049160.81460095
63Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.81436679
64Propanoate metabolism_Homo sapiens_hsa006400.80954099
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80922733
66Vitamin B6 metabolism_Homo sapiens_hsa007500.78408732
67Linoleic acid metabolism_Homo sapiens_hsa005910.78221205
68Oxytocin signaling pathway_Homo sapiens_hsa049210.77417605
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.77148793
70Vascular smooth muscle contraction_Homo sapiens_hsa042700.76601378
71Collecting duct acid secretion_Homo sapiens_hsa049660.75495001
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.75034501
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.75026616
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.74123518
75Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.73745393
76Fatty acid degradation_Homo sapiens_hsa000710.69177388
77Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.66062980
78Oocyte meiosis_Homo sapiens_hsa041140.65773750
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63783572
80Histidine metabolism_Homo sapiens_hsa003400.62840027
81Thyroid hormone synthesis_Homo sapiens_hsa049180.61986440
82Arginine and proline metabolism_Homo sapiens_hsa003300.61338966
83Phosphatidylinositol signaling system_Homo sapiens_hsa040700.61256160
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.60786789
85cGMP-PKG signaling pathway_Homo sapiens_hsa040220.60712413
86GnRH signaling pathway_Homo sapiens_hsa049120.59917182
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.59679695
88Primary bile acid biosynthesis_Homo sapiens_hsa001200.59486784
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56680801
90Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.55435995
91Glycerolipid metabolism_Homo sapiens_hsa005610.55106436
92Dilated cardiomyopathy_Homo sapiens_hsa054140.52732870
93ErbB signaling pathway_Homo sapiens_hsa040120.52003761
94Ras signaling pathway_Homo sapiens_hsa040140.51864941
95Choline metabolism in cancer_Homo sapiens_hsa052310.51316576
96Basal cell carcinoma_Homo sapiens_hsa052170.50585190
97African trypanosomiasis_Homo sapiens_hsa051430.50450828
98Hippo signaling pathway_Homo sapiens_hsa043900.50377196
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46667394
100Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.46181500
101Endometrial cancer_Homo sapiens_hsa052130.45902841
102Hedgehog signaling pathway_Homo sapiens_hsa043400.44354759
103Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.43948527
104Circadian rhythm_Homo sapiens_hsa047100.43778282
105Vitamin digestion and absorption_Homo sapiens_hsa049770.43589068
106Phototransduction_Homo sapiens_hsa047440.41960619
107Renal cell carcinoma_Homo sapiens_hsa052110.40973485
108Ovarian steroidogenesis_Homo sapiens_hsa049130.40630364
109Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38452838
110Estrogen signaling pathway_Homo sapiens_hsa049150.38017625
111Alzheimers disease_Homo sapiens_hsa050100.36607773
112Vibrio cholerae infection_Homo sapiens_hsa051100.36068726
113Rap1 signaling pathway_Homo sapiens_hsa040150.34150829
114Peroxisome_Homo sapiens_hsa041460.33799632
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.33464890
116Notch signaling pathway_Homo sapiens_hsa043300.32510221

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