AutismKB 2.0

Annotation Detail for BCKDHB


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Basic Information Top
Gene Symbol:BCKDHB ( E1B,FLJ17880,dJ279A18.1 )
Gene Full Name: branched chain keto acid dehydrogenase E1, beta polypeptide
Band: 6q14.1
Quick LinksEntrez ID:594; OMIM: 248611; Uniprot ID:ODBB_HUMAN; ENSEMBL ID: ENSG00000083123; HGNC ID: 987
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
VALDEG-PWYvaline degradation I
ILEUDEG-PWYisoleucine degradation I
PWY-5328superpathway of methionine degradation
PWY-5046branched-chain alpha-keto acid dehydrogenase complex
PWY-51302-oxobutanoate degradation I
Pathway IDPathway Name
hsa00280Valine, leucine and isoleucine degradation
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00172Maple syrup urine disease
Inherited disorders of amino acid metabolism
Genetic disorders
Desease IDDesease Name
2121Ovarian failure
2126Encephalopathies
No data
No data
Desease Name
Maple syrup urine disease, type Ib
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of BCKDHB mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of BCKDHB mRNAdecreases expression 20406850
D000643 Ammonium Chloride Ammonium Chloride affects the expression of BCKDHB mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of BCKDHB mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of BCKDHB mRNAdecreases expression 18042831
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of BCKDHB mRNAincreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of BCKDHB mRNA]decreases reaction|increases expression 17942915
D005996 Nitroglycerin Nitroglycerin results in decreased expression of BCKDHB mRNAdecreases expression 12102619
C041786 palm oil palm oil results in decreased expression of BCKDHB mRNAdecreases expression 18042831
C006253 pirinixic acid pirinixic acid results in decreased expression of BCKDHB mRNAdecreases expression 17426115
C021751 tanshinone tanshinone results in decreased expression of BCKDHB mRNAdecreases expression 15849732
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000236 Adenoma Diethylnitrosamine 2.9410737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.9019052882 19061943 18056438 16434500 17620307 17162532
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9016434500
MESH:D001161 Arteriosclerosis Dietary Fats 4.1015238619
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001943 Breast Neoplasms Dietary Fats 2.0920435547
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0917474063
MESH:D001943 Breast Neoplasms tanshinone 2.0919885617 15849732
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7016705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7019052882 18691550 19539802 20524982 19335982 19208518 3084413 16698587 19822196 20432363 18210153 20727157 20935162 19418558 19394651 16569478 11831363 18494052 19519916 16540662 18785209 20101231 16807293 18978308 21159647 17162532 3581430 10737359 20084675 20512989 18393292 18971187 17428255 18056438 16779866 20007298 16878318 16681979 19701751 16328049 18788625 19383236 19919837 16830150 18506893 19107877 17978847 16935385 20214788 16502159 17138121 18665156 19171122 17055752 17173139 16288022 20514400 17761372 10672840
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.836135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.8312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 11.837505956 21159647 2727394 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8419052882
MESH:D002779 Cholestasis Cyclosporine 8.1819486331
MESH:D002779 Cholestasis pirinixic acid 8.1819176532
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2220387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.5018551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.5021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.5019107877
MESH:D050171 Dyslipidemias Dietary Fats 3.5718367378
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3816302075
MESH:D005234 Fatty Liver Cyclosporine 20.2419224547
MESH:D005234 Fatty Liver Dietary Fats 20.2418296743 19004024 19551842 17967931
MESH:D005234 Fatty Liver Diethylnitrosamine 20.2421071580 20387270
MESH:D005234 Fatty Liver pirinixic acid 20.2419236843 20131406
MESH:D005355 Fibrosis Cyclosporine 9.4212639820 12168785
MESH:D005355 Fibrosis Dietary Fats 9.4218296743
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005910 Glioma tanshinone 4.0816955220
MESH:D006261 Headache Nitroglycerin 5.4511284996 11554966
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.2118467677 19772884 19176532 16221962
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7621332399
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8021332399
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D017379 Hypertrophy, Left Ventricular tanshinone 5.4019662366
MESH:D007249 Inflammation Dietary Fats 5.3820412841
MESH:D007249 Inflammation Diethylnitrosamine 5.3818785209
MESH:D007333 Insulin Resistance Dietary Fats 7.6111836018 18457598
MESH:D007333 Insulin Resistance pirinixic acid 7.6116306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4318776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.2216705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.2216705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.2212371664
MESH:D008103 Liver Cirrhosis Dietary Fats 6.9318296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.9318522880 18407596 18665156 19638242 20032147
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1317034775
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.737678174
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.7319642983 18644402 19850985 19256749 19551842 20405173 19294768 19833225 20583210 18754104 19090486 19690152 20501860 19073162 19255062 20492335 2422723 10737359 18648771 9163691 15885732 21047994 21071580 19812893 21167192 19499222 19254457 12112319 16942905 19426721 18977376 21278145 2862719 20452335 20118626 20137499 19996281 12771043 20434301 19638242 20101389 19427195 18978307 15175105
MESH:D008113 Liver Neoplasms pirinixic acid 7.7320007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.266135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.263124819 18544905 18093689 19539802 17942915 16267830 16842330 19009564 17174075 18775883 17854601 18079962 9362446 18308698 18164116 18253720 19126423 21159647 19004024 2563599 19519916 18282651
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7620512841 21163286 6695378 20970405
MESH:D008375 Maple Syrup Urine Disease marker/mechanism
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D008708 Methemoglobinemia Nitroglycerin 4.923537620
MESH:D020326 Migraine without Aura Nitroglycerin 5.3214659530
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction Nitroglycerin 6.2314729435
MESH:D009203 Myocardial Infarction pirinixic acid 6.2319151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.1518551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.629029167 3581430
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4820387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3820387270
MESH:D009765 Obesity Dietary Fats 4.5620518802 21332399 20132043 17217161 11836018 18674790 16723640 19632207 18457598
MESH:D009765 Obesity pirinixic acid 4.5620558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.4316049721
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4716540662
MESH:D011230 Precancerous Conditions Cyclosporine 9.4612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.462563599
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012640 Seizures 2,4-dinitrotoluene 6.2518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.2518551238
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.117505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2116049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D015430 Weight Gain Dietary Fats 3.8916723640
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
KEGG:00280 Valine, leucine and isoleucine degradation
Pharmacogenomics Knowledge Base Top
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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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