AutismKB

Evidence Detail for RNF135


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Basic Information Top
Gene Symbol:RNF135 ( MGC13061,REUL,Riplet )
Gene Full Name: ring finger protein 135
Band: 17q11.2
Quick LinksEntrez ID:84282; OMIM: 611358; Uniprot ID:RN135_HUMAN; ENSEMBL ID: ENSG00000181481
Sequences Top
>RNF135|84282|nucleotide
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>RNF135|84282|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) Yes 0 (0) 0 (0) 0 (0) 2 (6) 0 (0) 0 (0) 2 (6)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMOvergrowth syndrome (611358)
DescriptionMutations in RNF135, which is within the NF1 microdeletion region, cause overgrowth, ID, and dysmorphic features, demonstrating that haploinsufficiency of RNF135 contributes to the phenotype of NF1 microdeletion cases
Reference(s)17632510;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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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
  • Click to Download Data

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