AutismKB 2.0

Annotation Detail for CASQ1


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Basic Information Top
Gene Symbol:CASQ1 ( CASQ,PDIB1 )
Gene Full Name: calsequestrin 1 (fast-twitch, skeletal muscle)
Band: 1q23.2
Quick LinksEntrez ID:844; OMIM: 114250; Uniprot ID:CASQ1_HUMAN; ENSEMBL ID: ENSG00000143318; HGNC ID: 1512
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1879Glucose intolerance
1904Diabetes mellitus
2186Achalasia and cardiospasm
Desease Name
METABOLIC
diabetes, type 2
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002857 Chromium LEPR gene mutant form promotes the reaction [[Niacin binds to Chromium] which results in increased expression of CASQ1 mRNA]affects binding|increases expression|increases reaction 16940432
D009525 Niacin LEPR gene mutant form promotes the reaction [[Niacin binds to Chromium] which results in increased expression of CASQ1 mRNA]affects binding|increases expression|increases reaction 16940432
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001943 Breast Neoplasms Chromium 3.4215986119
MESH:D007674 Kidney Diseases Chromium 4.1517934191
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26095
    • No data
    No data
    Releated drug ID Related drug Name
    PA452249antiarrhythmics, class i and iii
    Drug Bank Top

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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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