AutismKB

Evidence Detail for RAI1


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Basic Information Top
Gene Symbol:RAI1 ( DKFZp434A139,KIAA1820,MGC12824,SMCR,SMS )
Gene Full Name: retinoic acid induced 1
Band: 17p11.2
Quick LinksEntrez ID:10743; OMIM: 607642; Uniprot ID:RAI1_HUMAN; ENSEMBL ID: ENSG00000108557
Sequences Top
>RAI1|10743|nucleotide
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>RAI1|10743|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (4) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMSmith-Magenis syndrome (182290)
DescriptionDeletions or mutations of RAI1 cause Smith-Magenis syndrome; duplications result in Potocki-Lupski syndrome. ASDs are observed frequently in both syndromes
Reference(s)18301319; 17334992; 9557889; 17357070; 16980810; 2425619; 3728561; 20110824; -; 8055249;
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
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000199 17 17p11.2 gain 1 - CNVs Only Present In Patients; Potocki, 2007
AutCNV0000293 17 17p11.2 gain 1 - CNVs Only Present In Patients; Nakamine, 2008
AutCNV0000374 17 17p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000721 17 17p11.2 gain 1 - Denovo CNVs; Bremer, 2011
AutCNV0004896 17 17p11.2 Gain 5 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
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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