AutismKB

Evidence Detail for RPP25


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Basic Information Top
Gene Symbol:RPP25 ( FLJ20374 )
Gene Full Name: ribonuclease P/MRP 25kDa subunit
Band: 15q24.2
Quick LinksEntrez ID:54913; OMIM: ; Uniprot ID:RPP25_HUMAN; ENSEMBL ID: ENSG00000178718
Sequences Top
>RPP25|54913|nucleotide
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>RPP25|54913|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Huang, 2010_1 human brainASD RNA expression, protein expression
  • Subjects: 15
  • Normal Controls: 15
  • Methods: qRT-PCR, western blot
  • Evidence Details: Significant alterations in the autism cohort included decreased expression ( 45%) of RPP25 (15q24.1). In the PFC, RPP25 chromatin showed high levels of histone H3-lysine 4 trimethylation, an epigenetic mark associated with transcriptional regulation. Unexpectedly, and in contrast to peripheral tissues, levels of RPP25 protein remained undetectable in fetal and adult cerebral cortex.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000028 15 15q21.2-26.3 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000110 15 15q21.2-26.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000150 15 15q23-24.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0004322 15 15q23-q24.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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