AutismKB 2.0

Annotation Detail for CBFA2T3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CBFA2T3 ( ETO2,MTG16,MTGR2,ZMYND4 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 3
Band: 16q24.3
Quick LinksEntrez ID:863; OMIM: 603870; Uniprot ID:MTG16_HUMAN; ENSEMBL ID: ENSG00000129993; HGNC ID: 1537
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200009ErbB4 signaling events
No data
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
2051Leukemia
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CBFA2T3 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CBFA2T3 mRNAdecreases expression 20064835
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of CBFA2T3 mRNAincreases expression 19371625
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CBFA2T3 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CBFA2T3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBFA2T3 mRNAaffects cotreatment|increases expression 17942748
D015025 Zearalenone Zearalenone results in increased expression of CBFA2T3 mRNAincreases expression 19371625
D019833 Genistein Genistein results in increased expression of CBFA2T3 mRNAincreases expression 19371625
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CBFA2T3 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CBFA2T3 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of CBFA2T3 mRNAincreases expression 18445702
20059764
18301758
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of CBFA2T3 mRNA]increases expression|increases reaction 20059764
D011374 Progesterone Progesterone affects the expression of CBFA2T3 mRNAaffects expression 17251523
D013629 Tamoxifen Tamoxifen affects the expression of CBFA2T3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBFA2T3 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CBFA2T3 mRNAdecreases expression 15652763
C025643 vinclozolin vinclozolin affects the expression of CBFA2T3 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0415322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.2414692618
MESH:D000230 Adenocarcinoma Genistein 7.2411473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.5616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5616835633
MESH:D000686 Amyloidosis Diethylstilbestrol 4.6415469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5617868700
MESH:D001930 Brain Injuries Progesterone 4.4315845082 15380490 15665606
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 3.0220146248 17474063
MESH:D001943 Breast Neoplasms Diethylstilbestrol 3.0215324884 17129689
MESH:D001943 Breast Neoplasms Genistein 3.0216541309 17200150 16873071
MESH:D001943 Breast Neoplasms Progesterone 3.0215562024 16175315 17614352
MESH:D001943 Breast Neoplasms Tamoxifen 3.0219059307 20390343 18984771 19011961 19244106 21152245 18997820 19200415 18855134 19410462 16873071 17261762 20065188 20859285 19066611 21138602 18425577 15668708 19289846 19084267 16273361 19288272 17049068 15565566 17242785 19221464 17440819 18629630 19103187 19155303 19487384 19142967 18351453 20544844 20005174 19189210 16818667 19189212 16202921 19115204 18821012 11161223 18815881 17893378 20135344
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.0220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.753084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 6.7516924424 15948411
MESH:D006528 Carcinoma, Hepatocellular Genistein 6.7516924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7516924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.4016332659
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0916105132 15861022 11677210 17333356 17681005 17110522 16919318
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515340226 8697196 16354765 12621046 15668235
MESH:D003110 Colonic Neoplasms Genistein 2.3017182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003456 Cryptorchidism Diethylstilbestrol 11.9212952375 16002989
MESH:D003456 Cryptorchidism vinclozolin 11.9214966744
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4316647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4317107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6019279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6717187935
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.6817906064 11739529 11287661 16177239 11834606 17562736 16227642 19164858 14986274 15619225 12705907 16081117 10915739 11743745 12958197 16393943 17522070 12392966 11421492 19085960 11461765 19923254 18071297 19420014 19416960 16109766 19739265 10774834 12540782 18713872 11529661 19370779 14725611 2444490 10663392 16485898 12153990 15968718 16781746 12594235 14550746
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.6820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 16.3012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 16.3017692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 16.3019031437
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 12.5516402032
MESH:D004714 Endometrial Hyperplasia Genistein 12.5516402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 13.0515700306 16804899
MESH:D016889 Endometrial Neoplasms Genistein 13.0511473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 13.0516202921 17893378 19155303 20544844
MESH:D004715 Endometriosis Progesterone 9.3716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.379294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.8715345470
MESH:D005234 Fatty Liver pirinixic acid 13.8720131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 13.8714986274 19224547
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 8.4816534752 15751030 16611131 16002989 16513791
MESH:D052776 Female Urogenital Diseases Tamoxifen 8.4816709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.1416452187
MESH:D005909 Glioblastoma Genistein 3.3416598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8516221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616354765 18606429 16959395 15340226 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006965 Hyperplasia Diethylstilbestrol 4.6114722030 12960047
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 11.8416002989
MESH:D007021 Hypospadias Ethinyl Estradiol 11.8416945680 16569931
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5815869954
MESH:D007246 Infertility Diethylstilbestrol 4.5215036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.9617937319
MESH:D007248 Infertility, Male vinclozolin 6.9616467254
MESH:D007249 Inflammation Progesterone 8.7015869954
MESH:D007249 Inflammation Tamoxifen 8.7019457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.7012200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2715629191 12587719
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 7.9616762066 15003126 14681315
MESH:D007680 Kidney Neoplasms Tamoxifen 7.9618625569
MESH:D007859 Learning Disorders Diethylstilbestrol 4.2417184923
MESH:D007938 Leukemia Genistein 3.0918980019 17468513
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008064 Lipidoses Tamoxifen 3.2517567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.0517823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0515474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.0518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6612969438 12587719 19014921 16610002 19784758 16611625 11587558 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.7620195826 21137059
MESH:D008113 Liver Neoplasms Diethylstilbestrol 14.7616712894 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 14.7620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 14.7616684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.7616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4218520028 20064080 17053015 20869020 20464547 18569708 6695378 18816296 20135361
MESH:D008175 Lung Neoplasms Tamoxifen 3.4218625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4211884234 19555203
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.3415166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.5715700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.7316002989
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Genistein 10.5414578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.5411408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.5419196722 11731420 19196723 14580682 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.7619453300
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction Genistein 5.8517141266
MESH:D009203 Myocardial Infarction pirinixic acid 5.8519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.7517141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.7516411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms Benzo(a)pyrene 8.6211141357
MESH:D009369 Neoplasms Diethylstilbestrol 8.6215313581
MESH:D009369 Neoplasms pirinixic acid 8.6217405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219189210 19200415 19196722
MESH:D009421 Nervous System Malformations Diethylstilbestrol 17.4111399458
MESH:D009421 Nervous System Malformations Genistein 17.4116427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.4114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010024 Osteoporosis Genistein 3.3319401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.2316169203
MESH:D010051 Ovarian Neoplasms Genistein 5.1419005980
MESH:D010051 Ovarian Neoplasms Progesterone 5.1416525653 17393432
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.3914722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.8516977796 15687265
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 17.4617184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 17.4611118676 11896295 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 17.4618042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0617292933
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.0615046698 15846301 17136230
MESH:D011471 Prostatic Neoplasms Genistein 2.0615256057 15378649 16925846
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0615067354
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9018045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.6719755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.6716192470
MESH:D013088 Spermatocele Diethylstilbestrol 21.4716709447 16002989
MESH:D013088 Spermatocele Ethinyl Estradiol 21.4716709447
MESH:D013088 Spermatocele Tamoxifen 21.4716709447
MESH:D013119 Spinal Cord Injuries Progesterone 11.5316503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 11.5319457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.6317053015
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 8.6316452187 16712894 17306315
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.6317572228 16712894 8653321
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.1616175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.3914652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 10.0216690809 15809267
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.0214692618
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.6116002989 16513791
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26113
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    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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