AutismKB 2.0

Annotation Details for RBPJL


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Basic Information Top
Gene Symbol:RBPJL ( RBP-L,RBPSUHL,SUH,SUHL )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region-like
Band: 20q13.12
Quick LinksEntrez ID:11317; OMIM: NA; Uniprot ID:RBPJL_HUMAN; ENSEMBL ID: ENSG00000124232; HGNC ID: 13761
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005667IEA-transcription factor complex-
GO ID Evidence Qualifier GO_term References
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0000982IEA-transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0001228IEA-transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding-
GO:0003682IEA-chromatin binding-
GO:0003700TAS-transcription factor activity, sequence-specific DNA binding9929984
GO ID Evidence Qualifier GO_term References
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0007165TAS-signal transduction9929984
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1196616
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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