SLC6A1

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: The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.65701475
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.53014232
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.32256431
4neuronal action potential propagation (GO:0019227)5.23491596
5synaptic vesicle exocytosis (GO:0016079)5.19782294
6locomotory exploration behavior (GO:0035641)5.05529275
7neuron cell-cell adhesion (GO:0007158)5.04244816
8neurotransmitter-gated ion channel clustering (GO:0072578)5.02349711
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.95360790
10* gamma-aminobutyric acid transport (GO:0015812)4.94930411
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.84726930
12synaptic vesicle maturation (GO:0016188)4.74543009
13* neurotransmitter secretion (GO:0007269)4.71364676
14glutamate secretion (GO:0014047)4.65746018
15regulation of glutamate receptor signaling pathway (GO:1900449)4.62246893
16glutamate receptor signaling pathway (GO:0007215)4.42717647
17synaptic transmission, glutamatergic (GO:0035249)4.42358964
18regulation of synaptic vesicle exocytosis (GO:2000300)4.40937256
19positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.34707481
20regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.33041488
21axon ensheathment in central nervous system (GO:0032291)4.33029478
22central nervous system myelination (GO:0022010)4.33029478
23gamma-aminobutyric acid signaling pathway (GO:0007214)4.29582496
24protein localization to synapse (GO:0035418)4.28300805
25neuron-neuron synaptic transmission (GO:0007270)4.24647815
26presynaptic membrane assembly (GO:0097105)4.20603048
27postsynaptic membrane organization (GO:0001941)4.18900403
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.13424176
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.12843286
30cellular potassium ion homeostasis (GO:0030007)4.10572920
31regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.08870092
32potassium ion homeostasis (GO:0055075)3.96468105
33L-amino acid import (GO:0043092)3.95621395
34regulation of neuronal synaptic plasticity (GO:0048168)3.94668099
35long-term memory (GO:0007616)3.93657581
36regulation of synaptic vesicle transport (GO:1902803)3.90115663
37proline transport (GO:0015824)3.88215479
38* neurotransmitter transport (GO:0006836)3.83460886
39presynaptic membrane organization (GO:0097090)3.83365026
40transmission of nerve impulse (GO:0019226)3.81048179
41cellular sodium ion homeostasis (GO:0006883)3.79033330
42layer formation in cerebral cortex (GO:0021819)3.77570651
43synaptic vesicle docking involved in exocytosis (GO:0016081)3.77520005
44exploration behavior (GO:0035640)3.76336050
45startle response (GO:0001964)3.76065191
46G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.73322339
47response to auditory stimulus (GO:0010996)3.70244372
48positive regulation of dendritic spine development (GO:0060999)3.67991616
49C4-dicarboxylate transport (GO:0015740)3.67608405
50auditory behavior (GO:0031223)3.66262651
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.61825917
52regulation of synaptic transmission, glutamatergic (GO:0051966)3.60630841
53positive regulation of membrane potential (GO:0045838)3.60525043
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60498812
55positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.60034028
56regulation of synapse maturation (GO:0090128)3.58821703
57cerebellar granule cell differentiation (GO:0021707)3.58351025
58sodium ion export (GO:0071436)3.58115418
59glycine transport (GO:0015816)3.57783620
60* regulation of neurotransmitter levels (GO:0001505)3.56547736
61alanine transport (GO:0032328)3.55642621
62regulation of excitatory postsynaptic membrane potential (GO:0060079)3.51924104
63synaptic vesicle endocytosis (GO:0048488)3.47740402
64positive regulation of synaptic transmission, GABAergic (GO:0032230)3.46942090
65* negative regulation of synaptic transmission, GABAergic (GO:0032229)3.46624110
66regulation of synapse structural plasticity (GO:0051823)3.46388693
67positive regulation of dendritic spine morphogenesis (GO:0061003)3.45278563
68regulation of voltage-gated calcium channel activity (GO:1901385)3.41540502
69cerebellar Purkinje cell differentiation (GO:0021702)3.39480916
70response to histamine (GO:0034776)3.36897999
71long-term synaptic potentiation (GO:0060291)3.34172470
72neuromuscular process controlling posture (GO:0050884)3.33437768
73cell communication by electrical coupling (GO:0010644)3.33399349
74mechanosensory behavior (GO:0007638)3.32707321
75pyrimidine nucleobase catabolic process (GO:0006208)3.32628596
76regulation of postsynaptic membrane potential (GO:0060078)3.29153904
77positive regulation of synapse maturation (GO:0090129)3.27606088
78synapse assembly (GO:0007416)3.24991217
79succinate metabolic process (GO:0006105)3.23354240
80regulation of dendritic spine development (GO:0060998)3.23003667
81neuron recognition (GO:0008038)3.22643852
82striatum development (GO:0021756)3.21719920
83positive regulation of synapse assembly (GO:0051965)3.21213773
84regulation of synaptic plasticity (GO:0048167)3.20560936
85regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.20432597
86* amino acid import (GO:0043090)3.19366763
87regulation of neurotransmitter secretion (GO:0046928)3.15706228
88positive regulation of neurotransmitter secretion (GO:0001956)3.15113403
89dendritic spine morphogenesis (GO:0060997)3.13152849
90establishment of mitochondrion localization (GO:0051654)3.12770090
91* regulation of synaptic transmission, GABAergic (GO:0032228)3.12073253
92membrane depolarization during action potential (GO:0086010)3.10248348
93adult walking behavior (GO:0007628)3.09703194
94neurotransmitter uptake (GO:0001504)3.09637220
95* acidic amino acid transport (GO:0015800)3.09271520
96L-glutamate transport (GO:0015813)3.09271520
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.09000857
98neuronal ion channel clustering (GO:0045161)3.05726615
99dicarboxylic acid catabolic process (GO:0043649)3.02743984
100potassium ion import (GO:0010107)3.02689990
101regulation of neurotransmitter transport (GO:0051588)3.02507039
102regulation of ARF protein signal transduction (GO:0032012)3.02253015
103* learning (GO:0007612)3.02094159
104neuromuscular synaptic transmission (GO:0007274)3.00688118
105membrane hyperpolarization (GO:0060081)3.00676027
106positive regulation of neurotransmitter transport (GO:0051590)2.99952132
107* synaptic transmission (GO:0007268)2.99536950
108negative regulation of dendrite morphogenesis (GO:0050774)2.96141670
109positive regulation of synaptic transmission (GO:0050806)2.95460251
110nucleobase catabolic process (GO:0046113)2.95412115
111negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.92358687
112membrane depolarization (GO:0051899)2.92303898
113establishment of synaptic vesicle localization (GO:0097480)2.92275796
114synaptic vesicle transport (GO:0048489)2.92275796
115dendritic spine organization (GO:0097061)2.92262321
116cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.91585635
117regulation of dendritic spine morphogenesis (GO:0061001)2.91182475
118regulation of vesicle fusion (GO:0031338)2.90949131
119neuromuscular process controlling balance (GO:0050885)2.90054253
120positive regulation of potassium ion transmembrane transport (GO:1901381)2.89708144
121dendrite morphogenesis (GO:0048813)2.88525911
122dicarboxylic acid transport (GO:0006835)2.88010446
123* regulation of synaptic transmission (GO:0050804)2.87692139
124regulation of female receptivity (GO:0045924)2.86910731
125regulation of respiratory system process (GO:0044065)2.85669006
126detection of calcium ion (GO:0005513)2.85222496

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.06892437
2GBX2_23144817_ChIP-Seq_PC3_Human3.98773551
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.23359662
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.21700340
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11252017
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69898323
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69898323
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67444524
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.66428624
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65242632
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.61384609
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.56485904
13REST_21632747_ChIP-Seq_MESCs_Mouse2.53539652
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46887448
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.45792456
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.41328011
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.23261022
18AR_21572438_ChIP-Seq_LNCaP_Human2.22369916
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.20313513
20DROSHA_22980978_ChIP-Seq_HELA_Human2.19020278
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.18352821
22* EZH2_27294783_Chip-Seq_ESCs_Mouse2.16978014
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07049198
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.04598641
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03523533
26* RARB_27405468_Chip-Seq_BRAIN_Mouse2.01916894
27TAF15_26573619_Chip-Seq_HEK293_Human1.99859142
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.97332848
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91252872
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.86411512
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.85993763
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75840350
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74019113
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.71064763
35SMAD4_21799915_ChIP-Seq_A2780_Human1.70237695
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.67416885
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66759775
38RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.65475031
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.63699404
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.61110902
41MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.56449734
42P300_19829295_ChIP-Seq_ESCs_Human1.54557215
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53195058
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.50940294
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.46669663
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.39650782
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.38079507
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.38036972
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37108816
50IGF1R_20145208_ChIP-Seq_DFB_Human1.36414620
51* AR_25329375_ChIP-Seq_VCAP_Human1.34502473
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34040096
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.29527164
54* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28562105
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.28407951
56* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28295012
57STAT3_23295773_ChIP-Seq_U87_Human1.25586983
58ZFP281_18757296_ChIP-ChIP_E14_Mouse1.24821535
59* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23646015
60ZNF274_21170338_ChIP-Seq_K562_Hela1.21529065
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20190558
62RNF2_27304074_Chip-Seq_NSC_Mouse1.19258229
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19115772
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.17607900
65NR3C1_21868756_ChIP-Seq_MCF10A_Human1.14706022
66* AR_19668381_ChIP-Seq_PC3_Human1.14133923
67AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12643760
68RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.11663478
69CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11611887
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.10150365
71TCF4_23295773_ChIP-Seq_U87_Human1.10051310
72* RUNX2_22187159_ChIP-Seq_PCA_Human1.09836173
73FUS_26573619_Chip-Seq_HEK293_Human1.09542986
74MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09477424
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05587064
76ER_23166858_ChIP-Seq_MCF-7_Human1.05405058
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05066155
78NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03746652
79OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.01617444
80KDM2B_26808549_Chip-Seq_K562_Human1.01273786
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.00669865
82TET1_21490601_ChIP-Seq_MESCs_Mouse1.00087648
83P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99948437
84ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99684163
85EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.99402482
86RING1B_27294783_Chip-Seq_NPCs_Mouse0.99215482
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98506858
88PRDM14_20953172_ChIP-Seq_ESCs_Human0.97279753
89TP53_18474530_ChIP-ChIP_U2OS_Human0.97227013
90NANOG_18555785_Chip-Seq_ESCs_Mouse0.97198601
91JUN_21703547_ChIP-Seq_K562_Human0.95486672
92GATA1_26923725_Chip-Seq_HPCs_Mouse0.95174198
93TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94787800
94DNAJC2_21179169_ChIP-ChIP_NT2_Human0.94318933
95CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.93917546
96TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.92904993
97VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92540364
98* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92177265
99WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.91970871
100AHR_22903824_ChIP-Seq_MCF-7_Human0.91827236
101SMAD3_21741376_ChIP-Seq_HESCs_Human0.90974789
102BCAT_22108803_ChIP-Seq_LS180_Human0.90786988
103TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90646812
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90646812
105CTCF_27219007_Chip-Seq_Bcells_Human0.90088773
106TP53_16413492_ChIP-PET_HCT116_Human0.90085796
107* SMAD4_21741376_ChIP-Seq_HESCs_Human0.90041366
108SMAD3_21741376_ChIP-Seq_ESCs_Human0.89012034
109RXR_22108803_ChIP-Seq_LS180_Human0.88959574
110LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88238712
111ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.86892910
112E2F1_18555785_Chip-Seq_ESCs_Mouse0.85937048
113SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85044153
114* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.84905876
115CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84180656
116BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.83642824
117FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.83301884
118* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82622453
119PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.82188541
120SRY_22984422_ChIP-ChIP_TESTIS_Rat0.78319948
121PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77301847
122KDM2B_26808549_Chip-Seq_REH_Human0.77020148
123* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.75552378
124ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.73679767

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.38093191
2MP0003880_abnormal_central_pattern4.01163763
3MP0009046_muscle_twitch3.97755865
4* MP0003635_abnormal_synaptic_transmissio3.90092882
5* MP0009745_abnormal_behavioral_response3.48151037
6MP0002064_seizures3.41385617
7MP0004270_analgesia3.06437262
8* MP0002063_abnormal_learning/memory/cond3.00565700
9MP0002572_abnormal_emotion/affect_behav2.86106522
10MP0002272_abnormal_nervous_system2.74870673
11* MP0001486_abnormal_startle_reflex2.74605411
12MP0001968_abnormal_touch/_nociception2.68736524
13MP0005423_abnormal_somatic_nervous2.64858808
14MP0002734_abnormal_mechanical_nocicepti2.55639613
15MP0002822_catalepsy2.50846709
16MP0005646_abnormal_pituitary_gland2.32918196
17MP0001501_abnormal_sleep_pattern2.29593922
18MP0002736_abnormal_nociception_after2.17378123
19MP0008569_lethality_at_weaning2.16758622
20MP0001440_abnormal_grooming_behavior2.14156842
21MP0009780_abnormal_chondrocyte_physiolo2.12953784
22MP0003136_yellow_coat_color2.09980438
23MP0002067_abnormal_sensory_capabilities2.08627539
24MP0004885_abnormal_endolymph2.04553683
25MP0002557_abnormal_social/conspecific_i1.94358448
26MP0002733_abnormal_thermal_nociception1.91754451
27MP0001970_abnormal_pain_threshold1.91125828
28MP0002735_abnormal_chemical_nociception1.89888280
29MP0001984_abnormal_olfaction1.85030666
30MP0001188_hyperpigmentation1.81469487
31MP0004142_abnormal_muscle_tone1.70933003
32MP0003329_amyloid_beta_deposits1.70235198
33MP0004858_abnormal_nervous_system1.68494682
34MP0000778_abnormal_nervous_system1.67194393
35MP0002184_abnormal_innervation1.63887304
36MP0005386_behavior/neurological_phenoty1.59290833
37MP0004924_abnormal_behavior1.59290833
38MP0001502_abnormal_circadian_rhythm1.50471172
39MP0005171_absent_coat_pigmentation1.47920653
40MP0003787_abnormal_imprinting1.42897901
41MP0003690_abnormal_glial_cell1.41277960
42MP0006276_abnormal_autonomic_nervous1.40827336
43MP0002638_abnormal_pupillary_reflex1.40725005
44MP0002882_abnormal_neuron_morphology1.40393621
45MP0000955_abnormal_spinal_cord1.39020343
46* MP0002066_abnormal_motor_capabilities/c1.38879316
47MP0005551_abnormal_eye_electrophysiolog1.38584818
48MP0005645_abnormal_hypothalamus_physiol1.38201394
49MP0004811_abnormal_neuron_physiology1.33889518
50MP0003879_abnormal_hair_cell1.31836258
51MP0003633_abnormal_nervous_system1.29559860
52MP0001905_abnormal_dopamine_level1.22543563
53MP0002909_abnormal_adrenal_gland1.20876354
54MP0001529_abnormal_vocalization1.18560537
55MP0003631_nervous_system_phenotype1.16663523
56MP0003634_abnormal_glial_cell1.12546440
57MP0002229_neurodegeneration1.11322924
58MP0001963_abnormal_hearing_physiology1.11009950
59MP0001177_atelectasis1.10486287
60MP0002152_abnormal_brain_morphology1.09407738
61MP0004742_abnormal_vestibular_system1.04675135
62MP0005409_darkened_coat_color1.01765369
63MP0003122_maternal_imprinting1.01366934
64MP0003632_abnormal_nervous_system1.00867802
65MP0001485_abnormal_pinna_reflex0.98674122
66MP0004147_increased_porphyrin_level0.97752602
67MP0005167_abnormal_blood-brain_barrier0.96400838
68MP0008875_abnormal_xenobiotic_pharmacok0.96017081
69MP0004215_abnormal_myocardial_fiber0.95622121
70MP0002876_abnormal_thyroid_physiology0.95117523
71MP0000920_abnormal_myelination0.94343301
72MP0002139_abnormal_hepatobiliary_system0.92805246
73MP0000013_abnormal_adipose_tissue0.91071199
74MP0003646_muscle_fatigue0.89624326
75MP0000566_synostosis0.87582836
76MP0000631_abnormal_neuroendocrine_gland0.85584181
77MP0003137_abnormal_impulse_conducting0.84606862
78MP0002752_abnormal_somatic_nervous0.84292042
79MP0005535_abnormal_body_temperature0.82023147
80MP0000751_myopathy0.81683369
81MP0000026_abnormal_inner_ear0.80331518
82* MP0002069_abnormal_eating/drinking_beha0.79490081
83MP0005623_abnormal_meninges_morphology0.79148208
84MP0005394_taste/olfaction_phenotype0.77273072
85MP0005499_abnormal_olfactory_system0.77273072
86MP0002090_abnormal_vision0.76904943
87MP0004130_abnormal_muscle_cell0.75815485
88MP0004085_abnormal_heartbeat0.75636114
89MP0008872_abnormal_physiological_respon0.74104473
90MP0010386_abnormal_urinary_bladder0.74056481
91MP0004043_abnormal_pH_regulation0.71012710
92MP0004233_abnormal_muscle_weight0.69274373
93MP0008874_decreased_physiological_sensi0.68574006
94MP0003123_paternal_imprinting0.68475264
95MP0001299_abnormal_eye_distance/0.68195877
96MP0003183_abnormal_peptide_metabolism0.66748519
97MP0005085_abnormal_gallbladder_physiolo0.66440791
98MP0005253_abnormal_eye_physiology0.65785171
99MP0001664_abnormal_digestion0.64662234
100MP0000604_amyloidosis0.64598866
101MP0001943_abnormal_respiration0.62012240
102MP0006072_abnormal_retinal_apoptosis0.61588300
103MP0009384_cardiac_valve_regurgitation0.60975083
104MP0005595_abnormal_vascular_smooth0.60954590
105MP0006292_abnormal_olfactory_placode0.60848523
106MP0005365_abnormal_bile_salt0.60788206
107MP0005187_abnormal_penis_morphology0.60777269
108MP0004145_abnormal_muscle_electrophysio0.60218406
109MP0003868_abnormal_feces_composition0.60141329
110MP0002249_abnormal_larynx_morphology0.59657752
111MP0001346_abnormal_lacrimal_gland0.59240271
112MP0003075_altered_response_to0.57126144
113MP0010769_abnormal_survival0.56384238
114MP0004484_altered_response_of0.55703922
115MP0003938_abnormal_ear_development0.55466029
116MP0010770_preweaning_lethality0.54333160
117MP0002082_postnatal_lethality0.54333160
118MP0010768_mortality/aging0.52681955
119MP0010329_abnormal_lipoprotein_level0.52313834
120MP0000639_abnormal_adrenal_gland0.50535002
121MP0003861_abnormal_nervous_system0.50300501

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.57713468
2Atonic seizures (HP:0010819)5.72847072
3Febrile seizures (HP:0002373)5.56951844
4Epileptic encephalopathy (HP:0200134)5.52598948
5Focal seizures (HP:0007359)5.49773851
6Myokymia (HP:0002411)5.05582420
7Progressive cerebellar ataxia (HP:0002073)4.42977689
8Absence seizures (HP:0002121)4.27372691
9Visual hallucinations (HP:0002367)4.05091783
10Hyperventilation (HP:0002883)4.03981860
11Dialeptic seizures (HP:0011146)3.95466916
12Hemiparesis (HP:0001269)3.80863393
13Generalized tonic-clonic seizures (HP:0002069)3.80696710
14Abnormality of binocular vision (HP:0011514)3.80554405
15Diplopia (HP:0000651)3.80554405
16Aplasia involving bones of the upper limbs (HP:0009823)3.69087176
17Aplasia of the phalanges of the hand (HP:0009802)3.69087176
18Aplasia involving bones of the extremities (HP:0009825)3.69087176
19Gaze-evoked nystagmus (HP:0000640)3.61371319
20Hemiplegia (HP:0002301)3.60878056
21Dysdiadochokinesis (HP:0002075)3.48907012
22Urinary urgency (HP:0000012)3.36499928
23Action tremor (HP:0002345)3.31458905
24Abnormal eating behavior (HP:0100738)3.25727567
25Megalencephaly (HP:0001355)3.17644088
26Truncal ataxia (HP:0002078)3.16968024
27Broad-based gait (HP:0002136)3.15143850
28Progressive inability to walk (HP:0002505)3.13198168
29Papilledema (HP:0001085)3.05937962
30Status epilepticus (HP:0002133)3.05226301
31Peripheral hypomyelination (HP:0007182)3.01267827
32Cerebral hypomyelination (HP:0006808)3.00459226
33Abnormality of the corticospinal tract (HP:0002492)2.90032877
34Obstructive sleep apnea (HP:0002870)2.88057563
35Focal dystonia (HP:0004373)2.86995559
36Lower limb muscle weakness (HP:0007340)2.84366914
37Tetraplegia (HP:0002445)2.81788482
38Depression (HP:0000716)2.78737699
39Supranuclear gaze palsy (HP:0000605)2.77352526
40Clonus (HP:0002169)2.76656524
41Scanning speech (HP:0002168)2.75981928
42Dysmetria (HP:0001310)2.71835807
43Impaired social interactions (HP:0000735)2.69929688
44Abnormal social behavior (HP:0012433)2.69929688
45Polyphagia (HP:0002591)2.67317895
46Poor eye contact (HP:0000817)2.64184930
47Anxiety (HP:0000739)2.63169377
48Pheochromocytoma (HP:0002666)2.61965888
49Delusions (HP:0000746)2.60710176
50Craniofacial dystonia (HP:0012179)2.59421368
51Genetic anticipation (HP:0003743)2.58414055
52Akinesia (HP:0002304)2.58134598
53Degeneration of the lateral corticospinal tracts (HP:0002314)2.52444922
54Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.52444922
55Neurofibrillary tangles (HP:0002185)2.48377923
56Blue irides (HP:0000635)2.47993124
57Split foot (HP:0001839)2.44759846
58Morphological abnormality of the pyramidal tract (HP:0002062)2.44054802
59Postural instability (HP:0002172)2.42963477
60Abnormality of the lower motor neuron (HP:0002366)2.39180294
61Gait imbalance (HP:0002141)2.38411352
62Ankle clonus (HP:0011448)2.37159586
63Epileptiform EEG discharges (HP:0011182)2.33967929
64Neuroendocrine neoplasm (HP:0100634)2.32061681
65Narrow nasal bridge (HP:0000446)2.28458790
66Generalized myoclonic seizures (HP:0002123)2.28006840
67Drooling (HP:0002307)2.27902940
68Excessive salivation (HP:0003781)2.27902940
69EEG with generalized epileptiform discharges (HP:0011198)2.24689585
70Spastic tetraparesis (HP:0001285)2.23706510
71Humeroradial synostosis (HP:0003041)2.22046650
72Synostosis involving the elbow (HP:0003938)2.22046650
73Impaired vibration sensation in the lower limbs (HP:0002166)2.21793563
74Mutism (HP:0002300)2.21370084
75Absent speech (HP:0001344)2.20440985
76Hypsarrhythmia (HP:0002521)2.20418445
77Limb dystonia (HP:0002451)2.18672482
78Inability to walk (HP:0002540)2.16723973
79Intention tremor (HP:0002080)2.16372404
80Apathy (HP:0000741)2.14766678
81Increased circulating renin level (HP:0000848)2.11636675
82Rigidity (HP:0002063)2.10331825
83Annular pancreas (HP:0001734)2.10166641
84Bradykinesia (HP:0002067)2.08300430
85Abnormality of aromatic amino acid family metabolism (HP:0004338)2.07433158
86Congenital primary aphakia (HP:0007707)2.07175492
87Urinary bladder sphincter dysfunction (HP:0002839)2.06442997
88Abnormal hair whorl (HP:0010721)2.05786209
89Fetal akinesia sequence (HP:0001989)2.03728113
90Impaired smooth pursuit (HP:0007772)2.03275120
91Hypoplastic left heart (HP:0004383)2.02665468
92Medial flaring of the eyebrow (HP:0010747)2.01533017
93Choreoathetosis (HP:0001266)2.00476510
94Specific learning disability (HP:0001328)1.99450284
95Thickened helices (HP:0000391)1.98918206
96Neuronal loss in central nervous system (HP:0002529)1.96674385
97Amyotrophic lateral sclerosis (HP:0007354)1.95741946
98Clumsiness (HP:0002312)1.94702299
99Diminished motivation (HP:0000745)1.93812804
100Incomplete penetrance (HP:0003829)1.92868561
101CNS hypomyelination (HP:0003429)1.92528935
102Dysmetric saccades (HP:0000641)1.92229177
103Gait ataxia (HP:0002066)1.91989475
104Nephrogenic diabetes insipidus (HP:0009806)1.91164463
105Insomnia (HP:0100785)1.91032172
106Stereotypic behavior (HP:0000733)1.89846591
107Abnormality of ocular smooth pursuit (HP:0000617)1.89687307
108Abnormality of monocarboxylic acid metabolism (HP:0010996)1.88665633
109Limb ataxia (HP:0002070)1.86270018
110Rapidly progressive (HP:0003678)1.85763304
111Neoplasm of the peripheral nervous system (HP:0100007)1.83049550
112Cerebral inclusion bodies (HP:0100314)1.82850090
113Agitation (HP:0000713)1.82529505
114Deep venous thrombosis (HP:0002625)1.81613505
115Bronchomalacia (HP:0002780)1.78420365
116Hyperthyroidism (HP:0000836)1.78044194
117Spastic gait (HP:0002064)1.75929642
118Complement deficiency (HP:0004431)1.75322043
119Sleep apnea (HP:0010535)1.75034257
120Impaired vibratory sensation (HP:0002495)1.74747099
121Hypoplasia of the corpus callosum (HP:0002079)1.74549721
122Amblyopia (HP:0000646)1.74326636
123Failure to thrive in infancy (HP:0001531)1.72981787
124Cortical visual impairment (HP:0100704)1.72832806
125Spinal canal stenosis (HP:0003416)1.71513828
126Abnormality of saccadic eye movements (HP:0000570)1.71405523
127Poor suck (HP:0002033)1.70581870
128Torticollis (HP:0000473)1.69566230
129Vaginal atresia (HP:0000148)1.69519415
130Genital tract atresia (HP:0001827)1.69195970
131Psychosis (HP:0000709)1.67483974
132Spastic tetraplegia (HP:0002510)1.66293483
133Horizontal nystagmus (HP:0000666)1.65137168
134Mixed hearing impairment (HP:0000410)1.64678045

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.92506435
2CASK3.81196268
3TNIK3.70945580
4MAP2K73.49721138
5EPHA43.33696496
6MAP3K43.14256155
7NTRK22.99748950
8MARK12.72201431
9MINK12.23271971
10MAP3K92.20336317
11MUSK2.07748447
12MAP3K121.92708806
13FES1.85730640
14PRPF4B1.78580686
15MAP2K41.68038640
16PHKG11.62893547
17PHKG21.62893547
18PRKD31.58035150
19MKNK21.57613316
20PRKCG1.53652091
21MAPK131.52224938
22PAK61.45952899
23CDK51.40554386
24DAPK21.38619964
25SGK21.31683871
26ERBB41.30605413
27NTRK11.28890929
28RIPK11.26941397
29SGK2231.26897020
30SGK4941.26897020
31CAMKK11.23341153
32STK381.18430951
33PLK21.18228057
34GRK51.15509808
35CDK191.15141452
36LATS21.10727857
37AKT31.07207248
38PRKCE1.06982618
39CAMKK21.06217208
40SIK21.05557378
41LMTK21.04411978
42PINK11.04237465
43CAMK2A1.04088885
44UHMK11.01546233
45PNCK0.99464445
46SGK30.95103001
47NEK60.92216243
48DAPK10.88864462
49OXSR10.87513251
50KSR10.87345271
51RIPK40.86240125
52CAMK2B0.84280069
53DYRK1A0.81709897
54CDK180.79084377
55CDK140.78606631
56CAMK10.78115402
57CDK150.77890535
58PDK40.77010780
59PDK30.77010780
60PRKCH0.76857518
61TNK20.76641040
62ARAF0.74389867
63SGK10.74055925
64CAMK40.72332226
65TYRO30.72283014
66STK110.71503136
67MAPK120.71043176
68KSR20.70924308
69WNK10.70422876
70CSNK1G20.67081854
71CAMK2G0.66810307
72CDK11A0.66423324
73FER0.65772464
74PKN10.63943130
75LIMK10.63181225
76CDK80.58185752
77DYRK20.58179408
78WNK30.57302104
79RAF10.55583677
80CSNK1A1L0.55517921
81CSNK1G30.55079935
82CAMK2D0.54885155
83TSSK60.54711254
84ALK0.51807656
85PDK10.51540171
86RPS6KA30.50553198
87RET0.49662075
88TESK10.46807137
89BCR0.46802727
90FYN0.46323830
91BMPR20.46272830
92MARK20.45403625
93FGR0.44916259
94PRKACA0.44205869
95MAP3K130.43788041
96PAK30.43686942
97FGFR20.43445595
98NME10.43161933
99ROCK20.42922855
100PRKCZ0.42909932
101PDK20.41542480
102MAPK70.41154820
103CSNK1D0.40241218
104CDK30.40060551
105PRKCA0.39540666
106BRSK10.39458950
107DAPK30.39048289
108PRKG10.38284355
109ERBB20.37899326
110CDC42BPA0.37768849
111ADRBK20.37724672
112MAPK100.37556124
113PDPK10.36746431
114CSNK1G10.36451362
115MKNK10.36402380
116PRKCB0.35408471
117CCNB10.35331508
118MAP4K20.35121440
119CSNK1A10.34580132
120ROCK10.34108998
121MAPKAPK50.30625987

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.48151663
2Synaptic vesicle cycle_Homo sapiens_hsa047213.39686252
3* GABAergic synapse_Homo sapiens_hsa047273.25169939
4Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.19501235
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.88554465
6Morphine addiction_Homo sapiens_hsa050322.69752582
7Glutamatergic synapse_Homo sapiens_hsa047242.60672806
8Circadian entrainment_Homo sapiens_hsa047132.46271233
9Olfactory transduction_Homo sapiens_hsa047402.30371031
10Long-term potentiation_Homo sapiens_hsa047202.21603371
11Salivary secretion_Homo sapiens_hsa049702.00873216
12Collecting duct acid secretion_Homo sapiens_hsa049662.00066339
13Amphetamine addiction_Homo sapiens_hsa050311.95100450
14Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.94585884
15Taste transduction_Homo sapiens_hsa047421.86383753
16Insulin secretion_Homo sapiens_hsa049111.84427692
17Dopaminergic synapse_Homo sapiens_hsa047281.81487209
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.75075391
19Long-term depression_Homo sapiens_hsa047301.74876347
20Gastric acid secretion_Homo sapiens_hsa049711.64334846
21Serotonergic synapse_Homo sapiens_hsa047261.63473260
22Cholinergic synapse_Homo sapiens_hsa047251.55001986
23Cocaine addiction_Homo sapiens_hsa050301.52854919
24Type I diabetes mellitus_Homo sapiens_hsa049401.49303202
25Calcium signaling pathway_Homo sapiens_hsa040201.49131862
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42961744
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.40742699
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.40040337
29Nitrogen metabolism_Homo sapiens_hsa009101.32727587
30Renin secretion_Homo sapiens_hsa049241.32170129
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.30609561
32Arginine biosynthesis_Homo sapiens_hsa002201.27927109
33Butanoate metabolism_Homo sapiens_hsa006501.25842359
34Vibrio cholerae infection_Homo sapiens_hsa051101.20123001
35Oxytocin signaling pathway_Homo sapiens_hsa049211.18330500
36Phototransduction_Homo sapiens_hsa047441.17494534
37cAMP signaling pathway_Homo sapiens_hsa040241.14614716
38Gap junction_Homo sapiens_hsa045401.12582149
39Histidine metabolism_Homo sapiens_hsa003401.12187398
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.09998561
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.07515117
42Prion diseases_Homo sapiens_hsa050201.00528407
43Primary bile acid biosynthesis_Homo sapiens_hsa001201.00126519
44Fatty acid biosynthesis_Homo sapiens_hsa000610.99324235
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99134822
46Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.98918061
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97905544
48GnRH signaling pathway_Homo sapiens_hsa049120.96732106
49Cardiac muscle contraction_Homo sapiens_hsa042600.95417089
50Axon guidance_Homo sapiens_hsa043600.91613039
51Melanogenesis_Homo sapiens_hsa049160.90930283
52Phosphatidylinositol signaling system_Homo sapiens_hsa040700.89555984
53Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83712371
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.82898333
55Oxidative phosphorylation_Homo sapiens_hsa001900.82465673
56ErbB signaling pathway_Homo sapiens_hsa040120.82457372
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.80558560
58Estrogen signaling pathway_Homo sapiens_hsa049150.79735652
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.78482469
60Pancreatic secretion_Homo sapiens_hsa049720.78207238
61Arginine and proline metabolism_Homo sapiens_hsa003300.76573967
62Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75032663
63Phenylalanine metabolism_Homo sapiens_hsa003600.73989751
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.70691356
65Caffeine metabolism_Homo sapiens_hsa002320.69561869
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68888633
67Circadian rhythm_Homo sapiens_hsa047100.68497992
68Type II diabetes mellitus_Homo sapiens_hsa049300.66905758
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.65084984
70Complement and coagulation cascades_Homo sapiens_hsa046100.64874108
71Glioma_Homo sapiens_hsa052140.64729091
72Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64476568
73Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.64416273
74Thyroid hormone synthesis_Homo sapiens_hsa049180.62392466
75Alzheimers disease_Homo sapiens_hsa050100.59570683
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57804209
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56916846
78Retinol metabolism_Homo sapiens_hsa008300.54835432
79Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54717079
80Dilated cardiomyopathy_Homo sapiens_hsa054140.54247852
81Dorso-ventral axis formation_Homo sapiens_hsa043200.53272256
82Rheumatoid arthritis_Homo sapiens_hsa053230.52999679
83Bile secretion_Homo sapiens_hsa049760.50251513
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50119761
85MAPK signaling pathway_Homo sapiens_hsa040100.49945568
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.49680220
87PPAR signaling pathway_Homo sapiens_hsa033200.49141262
88Ras signaling pathway_Homo sapiens_hsa040140.48783897
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45273615
90Choline metabolism in cancer_Homo sapiens_hsa052310.44548886
91Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44460400
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.44123713
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43015255
94Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.42929791
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.42887241
96Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42637228
97Rap1 signaling pathway_Homo sapiens_hsa040150.41523247
98Parkinsons disease_Homo sapiens_hsa050120.41316718
99Fatty acid degradation_Homo sapiens_hsa000710.39976851
100Alcoholism_Homo sapiens_hsa050340.39703647
101Chemical carcinogenesis_Homo sapiens_hsa052040.39648491
102Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39409801
103Inositol phosphate metabolism_Homo sapiens_hsa005620.38899322
104Steroid hormone biosynthesis_Homo sapiens_hsa001400.38459864
105beta-Alanine metabolism_Homo sapiens_hsa004100.38329710
106Oocyte meiosis_Homo sapiens_hsa041140.37304926
107Wnt signaling pathway_Homo sapiens_hsa043100.36984047
108Sphingolipid signaling pathway_Homo sapiens_hsa040710.35658984
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.35213118
110Tyrosine metabolism_Homo sapiens_hsa003500.35015390
111Glucagon signaling pathway_Homo sapiens_hsa049220.34834177
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.34699059
113Vitamin B6 metabolism_Homo sapiens_hsa007500.34045269
114Melanoma_Homo sapiens_hsa052180.32951819
115Neurotrophin signaling pathway_Homo sapiens_hsa047220.32622565
116Ovarian steroidogenesis_Homo sapiens_hsa049130.32402147
117ABC transporters_Homo sapiens_hsa020100.31568674
118Mineral absorption_Homo sapiens_hsa049780.30144856
119Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27749478
120Linoleic acid metabolism_Homo sapiens_hsa005910.27209785
121Ether lipid metabolism_Homo sapiens_hsa005650.27036873
122SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24590973
123African trypanosomiasis_Homo sapiens_hsa051430.23871057

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