AutismKB 2.0

Annotation Detail for NBEA


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Basic Information Top
Gene Symbol:NBEA ( BCL8B,LYST2 )
Gene Full Name: neurobeachin
Band: 13q13.3
Quick LinksEntrez ID:26960; OMIM: 604889; Uniprot ID:NBEA_HUMAN; ENSEMBL ID: ENSG00000172915; HGNC ID: 7648
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2124Autistic disorder
No data
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of NBEA proteinaffects expression 20106945
C015001 arsenite [arsenite co-treated with Benzo(a)pyrene] results in decreased expression of NBEA mRNAaffects cotreatment|decreases expression 15894712
C015001 arsenite arsenite results in decreased expression of NBEA mRNAdecreases expression 15894712
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NBEA mRNAdecreases expression 20106945
D001564 Benzo(a)pyrene [arsenite co-treated with Benzo(a)pyrene] results in decreased expression of NBEA mRNAaffects cotreatment|decreases expression 15894712
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NBEA mRNAdecreases expression 15894712
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of NBEA mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of NBEA mRNAincreases expression 19619570
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of NBEA mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NBEA mRNAincreases expression 19619570
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5220127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.5211473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001321 Autistic Disorder marker/mechanism 12746398
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7920146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 1.7917289903 12948864 17018787 17261762 16675129 14630087 19861407 18497071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1612619106 12907637 21507988
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1616924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0018566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2212621046 15340226 8697196 16354765 15668235
MESH:D003110 Colonic Neoplasms arsenite 2.6315037631
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 3.2011473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver arsenite 4.1518296743
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis arsenite 10.4818296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.4820067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 16120746 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 4.3617088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 18606429 15340226 8697196 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance Estradiol 3.1816627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007674 Kidney Diseases Estradiol 2.7615618244
MESH:D007680 Kidney Neoplasms Estradiol 3.2815610895
MESH:D008103 Liver Cirrhosis arsenite 3.5918296743
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.3414716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 8.042125692 15890375 9163691 18177683
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.0420195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0416984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.498603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4912151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 5.1214755239
MESH:D008175 Lung Neoplasms arsenite 5.1216809336
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.1218569708 20869020 20464547 17053015 18816296 20064080 18520028 20135361 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.1211884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.7711408345 16891317 11807958 17203775
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5516810080
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009389 Neovascularization, Pathologic arsenite 12.0215738583
MESH:D009389 Neovascularization, Pathologic Estradiol 12.0217289903
MESH:D009421 Nervous System Malformations Estradiol 10.9716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.9714600291
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11118676 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0317292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0316740699
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
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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