AutismKB 2.0

Evidence Details 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; HGNC ID: 9834
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAI1|10743|nucleotide
ATGCAGTCTTTTCGAGAAAGGTGTGGTTTCCATGGCAAACAACAGAACTACCAGCAGACCTCGCAGGAAACATCACGCCTAGAGAATTACAGGCAGCCGAGTCAG
GCCGGGCTAAGCTGCGACCGGCAGCGGCTGCTCGCCAAGGACTATTATAACCCGCAGCCTTACCCGAGCTATGAGGGTGGCGCTGGCACGCCCTCTGGCACTGCA
GCCGCGGTGGCCGCCGACAAGTACCACCGAGGCAGCAAGGCCCTGCCCACACAGCAAGGCCTGCAGGGGAGGCCGGCTTTCCCTGGCTACGGCGTCCAGGACAGC
AGCCCCTACCCAGGCCGCTATGCTGGTGAGGAGAGCCTTCAGGCTTGGGGGGCCCCACAGCCACCACCCCCACAGCCGCAGCCACTACCTGCAGGGGTGGCCAAG
TATGATGAGAACTTGATGAAAAAGACAGCAGTGCCCCCCAGCAGGCAGTATGCAGAGCAGGGCGCCCAGGTGCCCTTTCGGACTCACTCCCTGCACGTCCAGCAG
CCACCGCCGCCCCAGCAGCCCCTGGCATACCCCAAGCTCCAAAGGCAGAAGCTGCAGAACGACATTGCCTCCCCTCTGCCCTTCCCCCAGGGTACCCACTTTCCT
CAGCATTCCCAGTCCTTCCCCACCTCCTCCACCTACTCCTCCTCTGTCCAGGGTGGTGGGCAGGGGGCCCACTCCTATAAGAGTTGCACAGCACCGACTGCCCAG
CCCCATGACAGGCCGCTGACTGCCAGCTCCAGCCTGGCCCCGGGGCAGCGGGTCCAGAATCTTCATGCCTACCAGTCGGGCCGCCTCAGCTATGACCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGCCCTTCAGAGCCGGCACCATGCCCAGGAAACCCTCCATTACCAAAACCTCGCCAAGTATCAGCACTACGGG
CAGCAAGGCCAGGGCTACTGCCAGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAGACCTTCAGCCCCAGCTCCAGCCACTCACCCGCCCGCTCCGTG
GGCCGCTCACCTTCCTACAGTTCCACACCGTCGCCGCTGATGCCAAACCTGGAGAACTTTCCCTACAGCCAGCAGCCGCTCAGCACCGGGGCCTTCCCCGCAGGG
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>RAI1|10743|protein
MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDYYNPQPYPSYEGGAGTPSGTAAAVAADKYHRGSKALPTQQGLQGRPAFPGYGVQDS
SPYPGRYAGEESLQAWGAPQPPPPQPQPLPAGVAKYDENLMKKTAVPPSRQYAEQGAQVPFRTHSLHVQQPPPPQQPLAYPKLQRQKLQNDIASPLPFPQGTHFP
QHSQSFPTSSTYSSSVQGGGQGAHSYKSCTAPTAQPHDRPLTASSSLAPGQRVQNLHAYQSGRLSYDQQQQQQQQQQQQQQALQSRHHAQETLHYQNLAKYQHYG
QQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSVGRSPSYSSTPSPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSPTDATSSVDTQAGNCKPLQKD
KLPENLLSDLSLQSLTALTSQVENISNTVQQLLLSKAAVPQKKGVKNLVSRTPEQHKSQHCSPEGSGYSAEPAGTPLSEPPSSTPQSTHAEPQEADYLSGSEDPL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) Yes 0 (0) 1 (6) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (8)
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.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Potocki, 2007 - aCGHautism - - - - 1 - 1
Nakamine, 2008 Costa Rica SNP microarrayautsim - - - - 1 - 1
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bremer, 2011 - aCGHASD - - - - 223 - 223
Eriksson MA, 2015 Sweden FISH?--autism - - - - 162 - 162
Linkage Studies Top