AutismKB 2.0

Evidence Details for IL27RA


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Basic Information Top
Gene Symbol:IL27RA ( CRL1,IL27R,TCCR,WSX1,zcytor1 )
Gene Full Name: interleukin 27 receptor, alpha
Band: 19p13.12
Quick LinksEntrez ID:9466; OMIM: 605350; Uniprot ID:I27RA_HUMAN; ENSEMBL ID: ENSG00000104998; HGNC ID: 17290
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IL27RA|9466|nucleotide
ATGCGGGGAGGCAGGGGCGCCCCTTTCTGGCTGTGGCCGCTGCCCAAGCTGGCGCTGCTGCCTCTGTTGTGGGTGCTTTTCCAGCGGACGCGTCCCCAGGGCAGC
GCCGGGCCACTGCAGTGCTACGGAGTTGGACCCTTGGGCGACTTGAACTGCTCGTGGGAGCCTCTTGGGGACCTGGGAGCCCCCTCCGAGTTACACCTCCAGAGC
CAAAAGTACCGTTCCAACAAAACCCAGACTGTGGCAGTGGCAGCCGGACGGAGCTGGGTGGCCATTCCTCGGGAACAGCTCACCATGTCTGACAAACTCCTTGTC
TGGGGCACTAAGGCAGGCCAGCCTCTCTGGCCCCCCGTCTTCGTGAACCTAGAAACCCAAATGAAGCCAAACGCCCCCCGGCTGGGCCCTGACGTGGACTTTTCC
GAGGATGACCCCCTGGAGGCCACTGTCCATTGGGCCCCACCTACATGGCCATCTCATAAAGTTCTGATCTGCCAGTTCCACTACCGAAGATGTCAGGAGGCGGCC
TGGACCCTGCTGGAACCGGAGCTGAAGACCATACCCCTGACCCCTGTTGAGATCCAAGATTTGGAGCTAGCCACTGGCTACAAAGTGTATGGCCGCTGCCGGATG
GAGAAAGAAGAGGATTTGTGGGGCGAGTGGAGCCCCATTTTGTCCTTCCAGACACCGCCTTCTGCTCCAAAAGATGTGTGGGTATCAGGGAACCTCTGTGGGACG
CCTGGAGGAGAGGAACCTTTGCTTCTATGGAAGGCCCCAGGGCCCTGTGTGCAGGTGAGCTACAAAGTCTGGTTCTGGGTTGGAGGTCGTGAGCTGAGTCCAGAA
GGAATTACCTGCTGCTGCTCCCTAATTCCCAGTGGGGCGGAGTGGGCCAGGGTGTCCGCTGTCAACGCCACAAGCTGGGAGCCTCTCACCAACCTCTCTTTGGTC
TGCTTGGATTCAGCCTCTGCCCCCCGTAGCGTGGCAGTCAGCAGCATCGCTGGGAGCACGGAGCTACTGGTGACCTGGCAACCGGGGCCTGGGGAACCACTGGAG
CATGTAGTGGACTGGGCTCGAGATGGGGACCCCCTGGAGAAACTCAACTGGGTCCGGCTTCCCCCTGGGAACCTCAGTGCTCTGTTACCAGGGAATTTCACTGTC
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>IL27RA|9466|protein
MRGGRGAPFWLWPLPKLALLPLLWVLFQRTRPQGSAGPLQCYGVGPLGDLNCSWEPLGDLGAPSELHLQSQKYRSNKTQTVAVAAGRSWVAIPREQLTMSDKLLV
WGTKAGQPLWPPVFVNLETQMKPNAPRLGPDVDFSEDDPLEATVHWAPPTWPSHKVLICQFHYRRCQEAAWTLLEPELKTIPLTPVEIQDLELATGYKVYGRCRM
EKEEDLWGEWSPILSFQTPPSAPKDVWVSGNLCGTPGGEEPLLLWKAPGPCVQVSYKVWFWVGGRELSPEGITCCCSLIPSGAEWARVSAVNATSWEPLTNLSLV
CLDSASAPRSVAVSSIAGSTELLVTWQPGPGEPLEHVVDWARDGDPLEKLNWVRLPPGNLSALLPGNFTVGVPYRITVTAVSASGLASASSVWGFREELAPLVGP
TLWRLQDAPPGTPAIAWGEVPRHQLRGHLTHYTLCAQSGTSPSVCMNVSGNTQSVTLPDLPWGPCELWVTASTIAGQGPPGPILRLHLPDNTLRWKVLPGILFLW
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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) No 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018