AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_144616
  • Location:chr19 2203251-2206343
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2212909 2213068 159 6645
CTCF CD4SISSRdata 2212909 2213068 159 6645
CTCF JurkatGSE12889 2212814 2213076 262 6602
STAT1 HeLaGSE12782 2210162 2213452 3290 5464
STAT1 HeLaGSE12783 2210196 2213576 3380 5543
STAT1 IFNSISSRdata 2211200 2212124 924 5319
hScc1 BcellGSE12603 2206109 2206709 600 66
hScc1 BcellGSE12603 2209109 2209309 200 2866
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2204114 2204993 879 0
hScc1 BcellGSE12603 2204154 2205027 873 0
Validated miRNA targets Top
Cis-Nats regulation Top

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