AutismKB 2.0

Annotation Detail for FMR1


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Basic Information Top
Gene Symbol:FMR1 ( FMRP,FRAXA,MGC87458,POF,POF1 )
Gene Full Name: fragile X mental retardation 1
Band: Xq27.3
Quick LinksEntrez ID:2332; OMIM: 309550; Uniprot ID:FMR1_HUMAN; ENSEMBL ID: ENSG00000102081; HGNC ID: 3775
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
premature ovarian failure
Fragile X Syndrome
PSYCH
menopause, early
fragile X-associated tremor/ataxia syndrome
DEVELOPMENTAL
REPRODUCTION
multiple system atophy
Autism
No data
Desease Name
Fragile X syndrome
Fragile X tremor/ataxia syndrome
Ovarian failure, premature
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of FMR1 mRNAaffects expression 21346803
C015001 arsenite arsenite affects the localization of FMR1 proteinaffects localization 16510718
D003513 Cycloheximide [Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in increased expression of FMR1 mRNAaffects cotreatment|increases expression 19684285
D008911 Minocycline Minocycline inhibits the reaction [FMR1 gene mutant form results in increased expression of and results in increased activity of MMP9 protein]decreases reaction|increases activity|increases expression 18835858
D013629 Tamoxifen Tamoxifen results in decreased expression of FMR1 mRNAdecreases expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Cycloheximide] results in increased expression of FMR1 mRNAaffects cotreatment|increases expression 19684285
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FMR1 mRNAincreases expression 19684285
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of FMR1 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001172 Arthritis, Rheumatoid Minocycline 4.2814528503
MESH:D001321 Autistic Disorder marker/mechanism 15000256 14755444 9806479 18621663
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319244106 19189210 18855134 19200415 19103187 21152245 21138602 19084267 20390343 19189212 16273361 19155303 19410462 20544844 16873071 11161223 20005174 18351453 16818667 18629630 18984771 19115204 17242785 15668708 19066611 19221464 19059307 17261762 18425577 19011961 17440819 17893378 19487384 18815881 20065188 19142967 17049068 16202921 18997820 20135344 18821012 15565566 19288272 19289846 20859285
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1016705839
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.1016924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 15340226 16354765 8697196 15668235
MESH:D003110 Colonic Neoplasms arsenite 2.6215037631
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities marker/mechanism 17065172
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9521346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Minocycline 11.1211835378
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 11.1219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2420544844 17893378 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver arsenite 9.1518296743
MESH:D005234 Fatty Liver Tamoxifen 9.1519224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis arsenite 10.2518296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.2520067830
OMIM:300624 FRAGILE X MENTAL RETARDATION SYNDROME marker/mechanism
MESH:D005600 Fragile X Syndrome marker/mechanism 18835858 17065172 16510718 20300527
MESH:D005600 Fragile X Syndrome Minocycline 7.2118835858
OMIM:300623 FRAGILE X TREMOR/ATAXIA SYNDROME marker/mechanism
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006521 Hepatitis, Chronic Minocycline 6.6714986274
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 8697196 18606429 16959395 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.2916705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.2918625569
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008103 Liver Cirrhosis arsenite 3.5718296743
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms arsenite 3.6016809336
MESH:D008175 Lung Neoplasms Tamoxifen 3.6018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6011884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8114580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008607 Mental Retardation marker/mechanism 15000256
MESH:D020529 Multiple Sclerosis, Relapsing-Remitting Minocycline 7.2911835378
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219189210 19200415 19196722
MESH:D009389 Neovascularization, Pathologic arsenite 4.8715738583
MESH:D009395 Nephritis, Interstitial Minocycline 6.44444868 435818
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7312819281 16049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11896295 11222880 11118676
MESH:D016649 Primary Ovarian Insufficiency marker/mechanism
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Tamoxifen 4.8116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3816049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3816712894 17572228 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28191
    • Releated gene ID Related gene Name
    PA28191FMR1
    Releated disease ID Related disease Name
    PA444227Fragile X Syndrome
    PA152207461Fragile X-associated Tremor/Ataxia Syndrome
    Releated drug ID Related drug Name
    PA451846valproic acid
    Drug Bank Top

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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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