AutismKB 2.0

Annotation Detail for CACNB1


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Basic Information Top
Gene Symbol:CACNB1 ( CAB1,CACNLB1,CCHLB1,MGC41896 )
Gene Full Name: calcium channel, voltage-dependent, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:782; OMIM: 114207; Uniprot ID:CACB1_HUMAN; ENSEMBL ID: ENSG00000067191; HGNC ID: 1401
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
Synaptic Transmission
Axon guidance
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P04378Beta2 adrenergic receptor signaling pathway
P00039Metabotropic glutamate receptor group III pathway
P04391Oxytocin receptor mediated signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
P00044Nicotinic acetylcholine receptor signaling pathway
P04394Thyrotropin-releasing hormone receptor signaling pathway
P043745HT2 type receptor mediated signaling pathway
P00040Metabotropic glutamate receptor group II pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CACNB1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CACNB1 mRNAaffects expression 16483693
D004052 Diethylnitrosamine Diethylnitrosamine results in decreased expression of CACNB1 mRNAdecreases expression 20360939
D018038 Sodium Selenite Sodium Selenite results in increased expression of CACNB1 mRNAincreases expression 18175754
C025643 vinclozolin vinclozolin affects the expression of CACNB1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000236 Adenoma Diethylnitrosamine 3.0310737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.4418056438 19061943 19052882 17620307 17162532 16434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001008 Anxiety Disorders vinclozolin 3.9319015723
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.983084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.9819171122 3581430 17761372 17428255 17138121 16878318 19208518 18785209 16502159 18691550 16328049 19394651 20514400 19919837 18393292 16698587 18506893 19107877 20727157 19418558 16569478 16807293 17978847 18665156 16288022 16681979 17173139 17162532 16935385 20432363 20214788 20512989 18210153 10672840 19822196 10737359 3084413 17055752 11831363 20935162 19701751 19519916 19052882 18978308 21159647 16830150 16779866 18056438 20007298 20084675 20524982 18494052 19539802 18788625 16540662 19383236 19335982 18971187 20101231
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.092727394 7505956 21159647 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.0119052882
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D003456 Cryptorchidism vinclozolin 4.7814966744
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.7319739265 12392966 19416960 11529661 11287661 16393943 14725611 11743745 11739529 10663392 16109766 19370779 16781746 17562736 11461765 15619225 12705907 16485898 18713872 10774834 10915739 14550746 18071297 19420014 16081117 12153990 17906064 12540782 19923254 16227642 12958197 15968718 11421492 16177239 12594235 2444490 11834606 17522070 19164858 14986274 19085960
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.7319107877
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.7315131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.7316302075
MESH:D005234 Fatty Liver Diethylnitrosamine 3.5620387270 21071580
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.9116417039
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D007248 Infertility, Male vinclozolin 3.2616467254
MESH:D007249 Inflammation Diethylnitrosamine 2.5318785209
MESH:D007333 Insulin Resistance Sodium Selenite 3.4914714311
MESH:D007674 Kidney Diseases Acetaminophen 2.3812587719 15629191
MESH:D007984 Leydig Cell Tumor vinclozolin 5.2716417039
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9920032147 19638242 18522880 18407596 18665156
MESH:D008107 Liver Diseases Acetaminophen 4.1512587719 12969438 19784758 16611625 19014921 11587558 19460945 16610002
MESH:D008107 Liver Diseases Diethylnitrosamine 4.1517034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3421071580 19638242 20118626 15175105 19833225 12771043 2862719 19499222 10737359 19254457 19642983 20137499 2422723 20101389 19996281 18648771 20405173 21278145 19256749 20452335 20492335 18977376 18978307 19812893 15885732 19294768 19090486 12112319 20501860 19690152 20434301 16942905 20583210 19073162 21167192 18754104 19850985 18644402 9163691 19427195 21047994 19426721 19255062 19551842
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8319126423 17942915 18164116 2563599 18253720 19519916 18093689 18308698 18079962 19009564 18775883 19539802 18544905 17174075 21159647 16267830 9362446 3124819 16842330 19004024 17854601 18282651
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7621163286 20970405 20512841 6695378
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.683581430 9029167
MESH:D019636 Neurodegenerative Diseases Acetaminophen 9.2218514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 9.2220387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.7320387270
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5216540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.882563599
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.4418042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.4718220299
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011472 Prostatitis vinclozolin 5.4718629315
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.257505956
MESH:D014581 Urticaria Acetaminophen 3.3810982225
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04260 Cardiac muscle contraction
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04010 MAPK signaling pathway
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00308 activator Ibutilide Anti-Arrhythmia Agents
DB00393 blocker Nimodipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
DB00653 - Tetra Fungistop Anticonvulsants;Analgesics;Calcium Channel Blockers;Anesthetics;Anti-Arrhythmia Agents;Tocolytic Agents
DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
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