AutismKB 2.0

Annotation Details for JSRP1


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Basic Information Top
Gene Symbol:JSRP1 ( FLJ32416,JP-45 )
Gene Full Name: junctional sarcoplasmic reticulum protein 1
Band: 19p13.3
Quick LinksEntrez ID:126306; OMIM: 608743; Uniprot ID:JSPR1_HUMAN; ENSEMBL ID: ENSG00000167476; HGNC ID: 24963
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0016529IBA-sarcoplasmic reticulum-
GO:0033017IEA-sarcoplasmic reticulum membrane-
No data
GO ID Evidence Qualifier GO_term References
GO:0003009IDA-skeletal muscle contraction22927026
GO:0060314IBA-regulation of ryanodine-sensitive calcium-release channel activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916700
  • Data Attributes: HomoloGene calculated
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