AutismKB 2.0

Annotation Details for RPP40


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Basic Information Top
Gene Symbol:RPP40 ( RNASEP1,bA428J1.3 )
Gene Full Name: ribonuclease P/MRP 40kDa subunit
Band: 6p25.1
Quick LinksEntrez ID:10799; OMIM: 606117; Uniprot ID:RPP40_HUMAN; ENSEMBL ID: ENSG00000124787; HGNC ID: 20992
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634TAS-nucleus9630247
GO:0005654TAS-nucleoplasm-
GO:0005655TAS-nucleolar ribonuclease P complex9630247
GO ID Evidence Qualifier GO_term References
GO:0004526IEA-ribonuclease P activity-
GO ID Evidence Qualifier GO_term References
GO:0001682TAS-tRNA 5'-leader removal-
GO:0006364TAS-rRNA processing-
GO:0090502IEA-RNA phosphodiester bond hydrolysis, endonucleolytic-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RPP40POP71155429630247 Co-purification
RPP40POP71160139630247 Co-purification
POP1RPP4011601315096576 Reconstituted Complex
POP1RPP4011614015096576 Reconstituted Complex
RPP14RPP4011601315096576 Reconstituted Complex
RPP14RPP4011628315096576 Reconstituted Complex
RPP21RPP4011601315096576 Reconstituted Complex
RPP21RPP4012298115096576 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1346084
  • Data Attributes: MGI curated and 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