AutismKB

Evidence Detail for RFC1


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Basic Information Top
Gene Symbol:RFC1 ( A1,MGC51786,MHCBFB,PO-GA,RECC1,RFC,RFC140 )
Gene Full Name: replication factor C (activator 1) 1, 145kDa
Band: 4p14-p13
Quick LinksEntrez ID:5981; OMIM: 102579; Uniprot ID:RFC1_HUMAN; ENSEMBL ID: ENSG00000035928
Sequences Top
>RFC1|5981|nucleotide
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>RFC1|5981|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) 0 (0) 0 (0) 0 (0) 1 (1) 7 (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
James, 2006_1 human plasma--AD genotype-phenotype interaction
  • Subjects: 360
  • Normal Controls: 205
  • Methods: -
  • Evidence Details: The metabolic results indicated that plasma methionine and the ratio of S-adenosylmethionine (SAM) to S-adenosylhomocysteine (SAH), an indicator of methylation capacity, were significantly decreased in the autistic children relative to age-matched controls. In addition, plasma levels of cysteine, glutathione, and the ratio of reduced to oxidized glutathione, an indication of antioxidant capacity and redox homeostasis, were significantly decreased. Differences in allele frequency and/or significant gene-gene interactions were found for relevant genes encoding the reduced folate carrier (RFC 80G > A), transcobalamin II (TCN2 776G > C), catechol-O-methyltransferase (COMT 472G > A), methylenetetrahydrofolate reductase (MTHFR 677C > T and 1298A > C), and glutathione-S-transferase (GST M1).
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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  (e.g. CDH8)

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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