AutismKB 2.0

Annotation Detail for TSC1


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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa04150mTOR signaling pathway
Pathway IDPathway Name
Signaling by Insulin receptor
Pathway IDPathway Name
200080mTOR signaling pathway
200061LKB1 signaling events
Pathway IDPathway Name
P00033Insulin/IGF pathway-protein kinase B signaling cascade
P04397p53 pathway by glucose deprivation
Pathway IDPathway Name
500906Inhibition of TSC complex formation by PKB
500503Regulation of Rheb GTPase activity by AMPK
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1910Infantile spasms
1934Cancer
2068Skin disease
2124Autistic disorder
2176Tuberous sclerosis
Desease Name
IMMUNE
psoriasis
Desease Name
Psoriasis
Desease Name
Focal cortical dysplasia, Taylor balloon cell type
Tuberous sclerosis-1
Lymphangioleiomyomatosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of TSC1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TSC1 mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in increased expression of TSC1 mRNAincreases expression 17103032
D001374 Azacitidine [Azacitidine affects the methylation of TSC1 promoter] which affects the expression of TSC1 mRNAaffects expression|affects methylation 18538015
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of TSC1 mRNAaffects expression 17555576
D011794 Quercetin Quercetin results in increased expression of TSC1 mRNAincreases expression 14715546
D020123 Sirolimus Sirolimus inhibits the reaction [TSC1 gene mutant form results in decreased phosphorylation of AKT1 protein]decreases phosphorylation|decreases reaction 18495876
D020123 Sirolimus Sirolimus inhibits the reaction [TSC1 gene mutant form results in decreased phosphorylation of GSK3B protein]decreases phosphorylation|decreases reaction 18495876
D020123 Sirolimus Sirolimus inhibits the reaction [TSC1 gene mutant form results in increased phosphorylation of RPS6KB1 protein]decreases reaction|increases phosphorylation 18495876
C017947 sodium arsenite sodium arsenite results in increased expression of TSC1 mRNAincreases expression 16014739
D013629 Tamoxifen Tamoxifen affects the expression of TSC1 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.0215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.2216712894 17306315
MESH:D000743 Anemia, Hemolytic Quercetin 4.4517084956
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001260 Ataxia Telangiectasia Quercetin 5.2615336622
MESH:D001321 Autistic Disorder marker/mechanism 18067135
MESH:D001321 Autistic Disorder Acetaminophen 2.3018445737
MESH:D001321 Autistic Disorder Sirolimus 2.3021115397
MESH:D001327 Autoimmune Diseases Quercetin 4.6719761891
MESH:D001927 Brain Diseases marker/mechanism 21062901
MESH:D001943 Breast Neoplasms Quercetin 2.2918628248
MESH:D001943 Breast Neoplasms Tamoxifen 2.2920005174 19155303 16818667 19288272 18821012 16202921 16273361 15668708 19059307 20390343 18855134 19189212 20065188 20135344 19244106 20859285 19066611 19189210 18997820 17049068 18629630 15565566 19103187 17261762 19289846 19084267 18425577 21152245 18984771 19115204 17242785 19200415 17440819 11161223 19487384 18351453 16873071 19410462 19011961 17893378 18815881 20544844 19142967 21138602 19221464
MESH:D002105 Cadmium Poisoning Quercetin 5.8616962696
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular marker/mechanism 21499249
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.203084413
MESH:D006528 Carcinoma, Hepatocellular Quercetin 9.2012508355 19519916
MESH:D006528 Carcinoma, Hepatocellular Sirolimus 9.2019335982
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 9.2016507464 17306315 15276417
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.2016924424
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.2117234771
MESH:D002294 Carcinoma, Squamous Cell marker/mechanism 18538015
MESH:D002294 Carcinoma, Squamous Cell Sirolimus 5.3319435901
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 5.3318572023
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8117572228
MESH:D006332 Cardiomegaly Quercetin 3.4219794523
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.1219524636 20056578
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0217110522 11677210 15861022 17681005 17333356 16105132 16919318
MESH:D003072 Cognition Disorders marker/mechanism 18067135
MESH:D003110 Colonic Neoplasms Quercetin 2.4519056647 15741050 17191121 11134977 17148506 19440933 16640504
MESH:D015179 Colorectal Neoplasms Azacitidine 2.9719934284
MESH:D015179 Colorectal Neoplasms Quercetin 2.9718095365 18852136
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.9019496084
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6312594235 11834606 16393943 14550746 15968718 12705907 19370779 19416960 2444490 16109766 15619225 19739265 11421492 12153990 10774834 16781746 17522070 18713872 17562736 12540782 19923254 10915739 16485898 14725611 19420014 18071297 19164858 12958197 12392966 16081117 16177239 16227642 11461765 11739529 11287661 14986274 11529661 19085960 11743745 10663392 17906064
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.7512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.7519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1717893378 16202921 20544844 19155303
MESH:D004827 Epilepsy marker/mechanism 21062901 12112044
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3815345470
MESH:D005234 Fatty Liver Tamoxifen 8.3819224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis Quercetin 4.1619474275
MESH:C537067 Focal cortical dysplasia of Taylor marker/mechanism 12112044
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9616452187
MESH:D005909 Glioblastoma Quercetin 3.5219804834
MESH:D005910 Glioma Quercetin 3.1217643826
MESH:D006258 Head and Neck Neoplasms Sirolimus 4.5919435901
MESH:D006689 Hodgkin Disease sodium arsenite 3.3312676792
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia Quercetin 4.2218262572 11834736
MESH:D006973 Hypertension Quercetin 2.9218356687
MESH:D006984 Hypertrophy Sirolimus 5.4319211884
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.0817937319
MESH:D007248 Infertility, Male sodium arsenite 7.0815346721 12646999
MESH:D007249 Inflammation Tamoxifen 2.4519457130
MESH:D007251 Influenza, Human Quercetin 4.8216624496
MESH:D007627 Keloid Quercetin 5.2117086741
MESH:D007674 Kidney Diseases Acetaminophen 10.7512587719 15629191
MESH:D007674 Kidney Diseases Quercetin 10.7516962696
MESH:D007674 Kidney Diseases sodium arsenite 10.7520008137
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2118625569
MESH:D007938 Leukemia Azacitidine 7.1119148494
MESH:D007938 Leukemia Quercetin 7.1117468513
MESH:D007951 Leukemia, Myeloid Azacitidine 4.8319077051
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 3.0317596541 18720364
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.4119299654
MESH:D008064 Lipidoses Tamoxifen 3.3015342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 3.8612741479
MESH:D008106 Liver Cirrhosis, Experimental Sirolimus 3.8617050028
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.8618564211
MESH:D008107 Liver Diseases Acetaminophen 1.6719460945 16611625 12969438 19014921 16610002 12587719 11587558 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms Quercetin 7.9418980244
MESH:D008113 Liver Neoplasms sodium arsenite 7.9415276417 16712894
MESH:D008113 Liver Neoplasms Tamoxifen 7.9416684651
MESH:D008114 Liver Neoplasms, Experimental Quercetin 3.1719519916
MESH:D008171 Lung Diseases sodium arsenite 3.3019095001
MESH:D008175 Lung Neoplasms Azacitidine 5.0921224363
MESH:D008175 Lung Neoplasms Quercetin 5.0916280456
MESH:D008175 Lung Neoplasms sodium arsenite 5.0916712894 19931552 17077188 15276417 17306315
MESH:D008175 Lung Neoplasms Tamoxifen 5.0918625569
MESH:D018192 Lymphangioleiomyomatosis marker/mechanism
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7414580682 19196723 11731420 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Sirolimus 5.4519282848
MESH:D008545 Melanoma sodium arsenite 5.4516487513 19082730
MESH:D008545 Melanoma Tamoxifen 5.4512393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009006 Monosomy Azacitidine 6.4019299654
MESH:D009062 Mouth Neoplasms marker/mechanism 18538015
MESH:D009062 Mouth Neoplasms Sirolimus 4.8619435901
MESH:D009101 Multiple Myeloma Azacitidine 4.1118443271 19549372
MESH:D009190 Myelodysplastic Syndromes Azacitidine 4.1119805378 17596541 18720364 17611569
MESH:D009203 Myocardial Infarction Quercetin 3.0619595682
MESH:D015428 Myocardial Reperfusion Injury Quercetin 3.9519207477
MESH:D020191 Myoclonic Epilepsies, Progressive marker/mechanism 17484760
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms Quercetin 5.5615185748
MESH:D009369 Neoplasms sodium arsenite 5.5611559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.9220056578
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219189210 19200415 19196722
MESH:D009436 Neural Tube Defects sodium arsenite 3.2712854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D020078 Neurogenic Inflammation Quercetin 4.5817929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.4419495926
MESH:D010051 Ovarian Neoplasms Quercetin 5.2119005980
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.2115276417 17306315
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9116965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010300 Parkinson Disease Sirolimus 3.8019682553
MESH:D011230 Precancerous Conditions Quercetin 4.1619056647
MESH:D011471 Prostatic Neoplasms Azacitidine 2.1118324645
MESH:D011471 Prostatic Neoplasms Quercetin 2.1117292933 14715546
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.1116039940
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.1115067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D012554 Schistosomiasis japonica Quercetin 5.8616862918
MESH:D012878 Skin Neoplasms sodium arsenite 2.7819524636 18572023
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9512854658
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D014402 Tuberous Sclerosis marker/mechanism 21062901 21345208
MESH:D014402 Tuberous Sclerosis Sirolimus 5.8118495876 21115397
MESH:D001749 Urinary Bladder Neoplasms Quercetin 8.8016720314
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.8017306315 16452187 16712894 11723127
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.808653321 16712894 17572228
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9611813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Sirolimus 5.951336536
MESH:D014652 Vascular Diseases sodium arsenite 4.7117056641
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7515869587 14671159
Pathway ID Pathway Name
KEGG:04910 Insulin signaling pathway
KEGG:04150 mTOR signaling pathway
REACT:498 Signaling by Insulin receptor
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37034
    • No data
    Releated disease ID Related disease Name
    PA445451Psoriasis
    Releated drug ID Related drug Name
    PA451365sirolimus
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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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