AutismKB 2.0

Annotation Detail for ELSPBP1


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Basic Information Top
Gene Symbol:ELSPBP1 ( E12,EDDM12,HE12 )
Gene Full Name: epididymal sperm binding protein 1
Band: 19q13.33
Quick LinksEntrez ID:64100; OMIM: 607443; Uniprot ID:ESPB1_HUMAN; ENSEMBL ID: ENSG00000169393; HGNC ID: 14417
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27765
    • No data
    No data
    Releated drug ID Related drug Name
    PA449167cyclosporine
    PA451578tacrolimus
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB03945 - Phosphocholine
    No data
    No data
    No data

    Simple Query:


      (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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