AutismKB 2.0

Annotation Detail for SLC6A1


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Basic Information Top
Gene Symbol:SLC6A1 ( GABATHG,GABATR,GAT1 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Band: 3p25.3
Quick LinksEntrez ID:6529; OMIM: 137165; Uniprot ID:SC6A1_HUMAN; ENSEMBL ID: ENSG00000157103; HGNC ID: 11042
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Amine compound SLC transporters
Synaptic Transmission
Transmembrane transport of small molecules
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1870Drug abuse
Desease Name
Conduct disorder (interaction)
PSYCH
Desease Name
Conduct disorder (interaction)
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SLC6A1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SLC6A1 mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of SLC6A1 mRNAdecreases expression 20106945
D003907 Dexamethasone Dexamethasone affects the expression of SLC6A1 mRNAaffects expression 15102944
C074283 estradiol 3-benzoate estradiol 3-benzoate results in decreased expression of SLC6A1 mRNAdecreases expression 15664431
D004958 Estradiol Estradiol results in decreased expression of SLC6A1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SLC6A1 mRNAdecreases expression 15664431
C099406 L 742694 L 742694 affects the expression of SLC6A1 mRNAaffects expression 15102944
D013619 Tacrine Tacrine results in increased expression of SLC6A1 mRNAincreases expression 12832660
C059205 tiagabine tiagabine results in decreased activity of SLC6A1 proteindecreases activity 15788781
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D000230 Adenocarcinoma Estradiol 4.3411473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3414692618
MESH:D000544 Alzheimer Disease Tacrine 3.9512725862
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Dexamethasone 7.7117659584
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.7115885639
MESH:D001943 Breast Neoplasms Estradiol 2.1317289903 18497071 19861407 17018787 17261762 16675129 12948864 14630087
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1012619106 12907637 21507988
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1016924424
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9612371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.9618566989
MESH:D002779 Cholestasis Cyclosporine 8.2019486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2016105132 17333356 17110522 15861022 11677210 16919318 17681005
MESH:D003110 Colonic Neoplasms Dexamethasone 2.5215824018
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.2917728286
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.6112438553
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D003967 Diarrhea Dexamethasone 3.897237001
MESH:D004485 Eczema Dexamethasone 4.6612438553
MESH:D004487 Edema Dexamethasone 3.5719703484
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.0911473722 18566989 19148513
MESH:D005234 Fatty Liver Cyclosporine 8.1519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.1515345470
MESH:D005355 Fibrosis Cyclosporine 3.3612168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.127520565
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 4.0217088409
MESH:D006973 Hypertension Cyclosporine 5.5110903974
MESH:D006973 Hypertension Dexamethasone 5.5117042910
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Dexamethasone 2.968960868 11099482
MESH:D007333 Insulin Resistance Estradiol 3.0716393666 16627594
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 6.248314463 18776723 10903974
MESH:D007674 Kidney Diseases Estradiol 6.2415618244
MESH:D007680 Kidney Neoplasms Cyclosporine 7.7612371664
MESH:D007680 Kidney Neoplasms Estradiol 7.7615610895
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 2.6816718785
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.6814716833 14659978
MESH:D008113 Liver Neoplasms Aflatoxin B1 2.4015890375 2125692 18177683 9163691
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.848603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.7214755239
MESH:D008175 Lung Neoplasms Dexamethasone 2.7211195469 15824018
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.9416891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental estradiol 3-benzoate 6.9415375486
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009101 Multiple Myeloma Dexamethasone 3.6215867202 16118317 15744524
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.639809623
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4116810080
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 3.8511399458 16427766
MESH:D010051 Ovarian Neoplasms Estradiol 2.2619401270
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.6321297632
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0516740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 4.2011700416 18379247
MESH:D012559 Schizophrenia marker/mechanism 18923069
MESH:D012640 Seizures tiagabine 5.9110454489
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013272 Stomach Diseases Dexamethasone 4.5615472012
MESH:D013276 Stomach Ulcer Dexamethasone 3.6515138204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014605 Uveitis Cyclosporine 12.671336536
MESH:D014605 Uveitis Dexamethasone 12.671336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
REACT:20679 Amine compound SLC transporters
REACT:13685 Synaptic Transmission
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA309
    • Releated gene ID Related gene Name
    PA309SLC6A1
    No data
    Releated drug ID Related drug Name
    PA451682tiagabine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00906 antagonist Tiagabine GABA Agonists;Anticonvulsants;Neuroprotective Agents;Neurotransmitter Uptake Inhibitors
    No data
    No data
    No data

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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