AutismKB 2.0

Annotation Detail for BOC


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Basic Information Top
Gene Symbol:BOC ( - )
Gene Full Name: Boc homolog (mouse)
Band: 3q13.2
Quick LinksEntrez ID:91653; OMIM: 608708; Uniprot ID:BOC_HUMAN; ENSEMBL ID: ENSG00000144857; HGNC ID: 17173
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Myogenesis
Pathway IDPathway Name
200144Signaling events mediated by the Hedgehog family
No data
Pathway IDPathway Name
500556CDO in myogenesis
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BOC mRNAdecreases expression 20713471
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of BOC mRNAincreases expression 17484886
C020806 tetrabromobisphenol A tetrabromobisphenol A affects the expression of BOC mRNAaffects expression 18976794
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of BOC mRNAdecreases expression 18691609
D014212 Tretinoin Tretinoin results in increased expression of BOC mRNAincreases expression 16788091
C025643 vinclozolin vinclozolin affects the expression of BOC mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000505 Alopecia Tretinoin 3.8715955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8919015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001169 Arthritis, Experimental Tretinoin 3.2516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3216292516
MESH:D001249 Asthma Tretinoin 2.4216456186
MESH:D001471 Barrett Esophagus Tretinoin 4.7816935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.0416206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8020146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D001943 Breast Neoplasms Tretinoin 1.8016873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.0516813970
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2015721981 16192424 3786805 18705752 15673190 16050911 15700767 16097048 16227642 16011737 10355542 16124888
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6816168501
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.1518788625
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.151917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8220419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.8216096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D002386 Cataract Tretinoin 3.2617460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.0516129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002822 Choriocarcinoma Tretinoin 5.6816461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.1315340226 8697196 15668235 16354765 12621046
MESH:D002972 Cleft Palate Tretinoin 6.139407595
MESH:D003092 Colitis Tretinoin 4.1217035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5210048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.529211117 17551590 9142499 9125849 9224671 10589399 16925845 8800419 14991402 9664655
MESH:D003456 Cryptorchidism vinclozolin 4.7214966744
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.9710915739 3732212 15027814 16227642 21278145 7440962 2869522 6623471 11566570 15968718 10092053 15998439 6884620 16177239 7179309 4309450 19336974 19085960 3786805 7120509 17522070 9327722
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.7418230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 13.7418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3016569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.6111564622
MESH:D005124 Eye Abnormalities Tretinoin 9.619664655 16938888
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.4912795759 15959796 12631006 17595544 19224547 16239168 61145 16045604
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Carbon Tetrachloride 17.3418705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 17.3420067830
MESH:D005355 Fibrosis Tretinoin 17.3417994277
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.8216417039
MESH:D005909 Glioblastoma Tretinoin 3.1917312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3816096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6816084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.9420471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.9410048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 11.9414991402 9664655
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9719900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 18606429 16959395 15340226 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.4616870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9916899240
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9916778211
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5015338365
MESH:D007248 Infertility, Male vinclozolin 3.2416467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007410 Intestinal Diseases Tretinoin 4.1817994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.0416580747
MESH:D007569 Jaw Abnormalities Tretinoin 11.0417551590 15992940
MESH:D007938 Leukemia Tretinoin 2.9017143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0216482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1217596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3417339181 17294898 16140955 16823087 19035177 17361223 17107899 16788101 19642359 12679006 16766008 9834237 17368321 19075265 16331271 17712046 17217047 17506722 15748426 16891316 19029980 17649720 17301526 16935935 19225113
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1916417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.539224671
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9611408273 17157831 16239168 17334410 16221502 17174718 16943688 11903743 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6117640975 17922224 16033810 17557913 16097048 16015684 18187930 18412020 18156304 15338365 12445421 17805973 18263696 18395914 18279442 15931870 12741479 18210741 12632512 16248980 12667390 18277467 18339082 17823541 12958196 12666154 12586293 15673190 15996030 14716496 15818738 14748882 17631135 12546737 15123356 15730626 18376398 18472332 17900296 12898905 17714472 12632514 18205269 16638106 18429990 18054572 17761835 17698563 13678700 16116963 17525996 17565644 14716833 12649538 17708605 12609069 18418968 18317297 10355542 15925388 15052691 17869086 16192424 18420326 15362042 14620537 18251166 11481614 17721639 18472094 16027843 14724832 17766677 16136751 15876570 18166357 15959796 15057751 18481824 15370692 17944888 18705752 16011737 17481882 15650968 20821823 18395095 12445418 18006644 17976157 15893842 12389079 14512876
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6112878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.6116248980 18397230
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1416964402 16246199 15830285 15720792 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9916899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9520195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.9519294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9516984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3712014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3712151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520464547 18816296 17053015 18569708 20064080 20869020 18520028 20135361 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2519555203 11884234
MESH:D008527 Medulloblastoma Tretinoin 2.8817453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.8416940565
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2417596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4511141357
MESH:D009369 Neoplasms Tretinoin 5.4516594593 16946489
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.8114600291
MESH:D009421 Nervous System Malformations Tretinoin 10.819125849
MESH:D009436 Neural Tube Defects Tretinoin 3.249142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4216936753
MESH:D010146 Pain Tretinoin 3.1616870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5515976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.0811896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 11.0819015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.4018220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011472 Prostatitis vinclozolin 5.4018629315
MESH:D011507 Proteinuria Tretinoin 3.9516636307
MESH:D011625 Pterygium Tretinoin 5.2616723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4516283617 16116481
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 10.1410029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.1416192470
MESH:D012878 Skin Neoplasms Tretinoin 10.1416467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4120155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.4117261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2617045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0916051514
MESH:D014376 Tuberculosis Tretinoin 3.4116040207
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.1316752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D014820 Vitiligo Tretinoin 4.4416761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D009396 Wilms Tumor Tretinoin 4.2516287080
Pathway ID Pathway Name
REACT:21303 Myogenesis
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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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