AutismKB 2.0

Annotation Detail for BCLAF1


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Basic Information Top
Gene Symbol:BCLAF1 ( BTF,KIAA0164,bK211L9.1 )
Gene Full Name: BCL2-associated transcription factor 1
Band: 6q23.3
Quick LinksEntrez ID:9774; OMIM: 612588; Uniprot ID:BCLF1_HUMAN; ENSEMBL ID: ENSG00000029363; HGNC ID: 16863
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1775Muscular atrophy
2115Muscular dystrophies
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of BCLAF1 mRNAincreases expression 20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of BCLAF1 mRNAdecreases expression 20018196
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of BCLAF1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of BCLAF1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCLAF1 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of BCLAF1 mRNAdecreases expression 15576828
C006253 pirinixic acid pirinixic acid results in increased expression of BCLAF1 mRNAincreases expression 18445702
C487081 PXD101 PXD101 results in decreased expression of BCLAF1 mRNAdecreases expression 19606018
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of BCLAF1 mRNAaffects cotreatment|increases expression 19244175
D012643 Selenium Selenium results in decreased expression of BCLAF1 mRNAdecreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of BCLAF1 mRNAaffects expression 17555576
C004648 testosterone enanthate testosterone enanthate affects the expression of BCLAF1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCLAF1 mRNAaffects cotreatment|increases expression 17942748
D014028 Tobacco Smoke Pollution Tobacco Smoke Pollution results in increased expression of BCLAF1 proteinincreases expression 16137721
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of BCLAF1 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of BCLAF1 mRNAdecreases expression 19244175
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 4.2820127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2814692618
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Tobacco Smoke Pollution 5.7515814487
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:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
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:D001172 Arthritis, Rheumatoid Tobacco Smoke Pollution 3.2119898480
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:D001943 Breast Neoplasms Benzo(a)pyrene 1.7917474063 20146248
MESH:D001943 Breast Neoplasms Tamoxifen 1.7919410462 16273361 19288272 20065188 15668708 19066611 19487384 18997820 17049068 19244106 16873071 17242785 20859285 18984771 19011961 21152245 17440819 17261762 21138602 18821012 16202921 18425577 19084267 19059307 19142967 11161223 18815881 20005174 17893378 19289846 19189212 18629630 20544844 20390343 19189210 19103187 19221464 19155303 19115204 20135344 18351453 19200415 18855134 16818667 15565566
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8416924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung Tobacco Smoke Pollution 3.4711212258
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 5.0320419170
MESH:D002294 Carcinoma, Squamous Cell Tobacco Smoke Pollution 5.0311212258
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8220889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0916105132 16919318 17681005 15861022 17110522 11677210 17333356
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.158697196 12621046 16354765 15668235 15340226
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5210048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5219769572
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6019279558
MESH:D056486 Drug-Induced Liver Injury Selenium 3.8915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.4912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.4919031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1317893378 19155303 20544844 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4620426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.8715345470
MESH:D005234 Fatty Liver pirinixic acid 13.8719236843 20131406
MESH:D005234 Fatty Liver Tamoxifen 13.8714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
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:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.5020471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.5010048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 11.5016080930
MESH:D006333 Heart Failure pirinixic acid 7.2220558911
MESH:D006333 Heart Failure Selenium 7.2217162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8516221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8515340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416490937 16863852
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.9617440010
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 8697196 16354765 15340226 18606429
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tamoxifen 8.8019457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.8012200463 12878042
MESH:D007249 Inflammation Tobacco Smoke Pollution 8.8018590791
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Vitamin E 2.8812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.1618625569
MESH:D008064 Lipidoses Tamoxifen 3.2515342952 17567588
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:D008106 Liver Cirrhosis, Experimental Vitamin E 5.0516169303
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.0620195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 11.0616377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tamoxifen 11.0616684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.7518816296 18569708 6695378 20464547 20135361 18520028 20869020 20064080 17053015
MESH:D008175 Lung Neoplasms Tamoxifen 6.7518625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7519555203 11884234
MESH:D008175 Lung Neoplasms Tobacco Smoke Pollution 6.7512111688 3440675 16288123 11091918
MESH:D008175 Lung Neoplasms Vitamin E 6.7511062179
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.3315318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.3314580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.7619453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.1516381670
MESH:D009062 Mouth Neoplasms Tobacco Smoke Pollution 9.1515006635
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0311141357
MESH:D009369 Neoplasms pirinixic acid 5.0317405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5117292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5115067354
MESH:D011471 Prostatic Neoplasms Vitamin E 2.5115084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012135 Respiratory Sounds Tobacco Smoke Pollution 4.8018410779
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.8610029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.8616192470
MESH:D012878 Skin Neoplasms Tobacco Smoke Pollution 9.8618590791
MESH:D013088 Spermatocele Ethinyl Estradiol 12.3016709447
MESH:D013088 Spermatocele Tamoxifen 12.3016709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.6316517955
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 8.7117053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.718653321 16712894 17572228
MESH:D001749 Urinary Bladder Neoplasms Tobacco Smoke Pollution 8.7112846360
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
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
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  (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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