AutismKB 2.0

Annotation Detail for AFF3


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Basic Information Top
Gene Symbol:AFF3 ( LAF4,MLLT2-like )
Gene Full Name: AF4/FMR2 family, member 3
Band: 2q11.2
Quick LinksEntrez ID:3899; OMIM: 601464; Uniprot ID:AFF3_HUMAN; ENSEMBL ID: ENSG00000144218; HGNC ID: 6473
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
2051Leukemia
Desease Name
type 1 diabetes
IMMUNE
Desease Name
Type 1 diabetes
Rheumatoid arthritis
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of AFF3 mRNAincreases expression 19933214
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of AFF3 mRNAincreases expression 19371625
D002117 Calcitriol Calcitriol results in decreased expression of AFF3 mRNAdecreases expression 16002434
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of AFF3 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of AFF3 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000686 Amyloidosis Diethylstilbestrol 4.9215469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001172 Arthritis, Rheumatoid marker/mechanism 20453842
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Calcitriol 1.9311237771
MESH:D001943 Breast Neoplasms Diethylstilbestrol 1.9315324884 17129689
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 2.2715948411 16924424
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7011237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003456 Cryptorchidism Diethylstilbestrol 5.0016002989 12952375
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7912711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3715138306
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 5.2316402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.6816804899 15700306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.8515751030 16513791 16002989 16611131 16534752
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.4916452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4911294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9216221962 19176532 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9215340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6618606429 16354765 15340226 16959395 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006965 Hyperplasia Diethylstilbestrol 4.9214722030 12960047
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007021 Hypospadias Diethylstilbestrol 5.0616002989
MESH:D007246 Infertility Diethylstilbestrol 4.7915036965
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 3.7616762066 14681315 15003126
MESH:D007859 Learning Disorders Diethylstilbestrol 4.5417184923
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms Diethylstilbestrol 8.0415890375 16712894
MESH:D008113 Liver Neoplasms pirinixic acid 8.0416377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.6915166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.7215700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 6.1316002989
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms Diethylstilbestrol 5.5515313581
MESH:D009369 Neoplasms pirinixic acid 5.5517405874
MESH:D009421 Nervous System Malformations Diethylstilbestrol 11.1511399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.1514600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.7814722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 5.1616977796 15687265
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 11.4317184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.4311399792 11118676 11222880 11896295
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.3215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4215754350 18247401 16644109 12479363 16289102
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.4217136230 15046698 15846301
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013088 Spermatocele Diethylstilbestrol 5.3216709447 16002989
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 2.8817306315 16712894 16452187
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.3816175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.7814652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 4.5116690809 15809267
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.9216513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
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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