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
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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) 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.
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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