AutismKB 2.0

Evidence Details for IL21R


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Basic Information Top
Gene Symbol:IL21R ( MGC10967,NILR )
Gene Full Name: interleukin 21 receptor
Band: 16p12.1
Quick LinksEntrez ID:50615; OMIM: 605383; Uniprot ID:IL21R_HUMAN; ENSEMBL ID: ENSG00000103522; HGNC ID: 6006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IL21R|50615|nucleotide
ATGCCGCGTGGCTGGGCCGCCCCCTTGCTCCTGCTGCTGCTCCAGGGAGGCTGGGGCTGCCCCGACCTCGTCTGCTACACCGATTACCTCCAGACGGTCATCTGC
ATCCTGGAAATGTGGAACCTCCACCCCAGCACGCTCACCCTTACCTGGCAAGACCAGTATGAAGAGCTGAAGGACGAGGCCACCTCCTGCAGCCTCCACAGGTCG
GCCCACAATGCCACGCATGCCACCTACACCTGCCACATGGATGTATTCCACTTCATGGCCGACGACATTTTCAGTGTCAACATCACAGACCAGTCTGGCAACTAC
TCCCAGGAGTGTGGCAGCTTTCTCCTGGCTGAGAGCATCAAGCCGGCTCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTATAATATCTCCTGGCGCTCA
GATTACGAAGACCCTGCCTTCTACATGCTGAAGGGCAAGCTTCAGTATGAGCTGCAGTACAGGAACCGGGGAGACCCCTGGGCTGTGAGTCCGAGGAGAAAGCTG
ATCTCAGTGGACTCAAGAAGTGTCTCCCTCCTCCCCCTGGAGTTCCGCAAAGACTCGAGCTATGAGCTGCAGGTGCGGGCAGGGCCCATGCCTGGCTCCTCCTAC
CAGGGGACCTGGAGTGAATGGAGTGACCCGGTCATCTTTCAGACCCAGTCAGAGGAGTTAAAGGAAGGCTGGAACCCTCACCTGCTGCTTCTCCTCCTGCTTGTC
ATAGTCTTCATTCCTGCCTTCTGGAGCCTGAAGACCCATCCATTGTGGAGGCTATGGAAGAAGATATGGGCCGTCCCCAGCCCTGAGCGGTTCTTCATGCCCCTG
TACAAGGGCTGCAGCGGAGACTTCAAGAAATGGGTGGGTGCACCCTTCACTGGCTCCAGCCTGGAGCTGGGACCCTGGAGCCCAGAGGTGCCCTCCACCCTGGAG
GTGTACAGCTGCCACCCACCACGGAGCCCGGCCAAGAGGCTGCAGCTCACGGAGCTACAAGAACCAGCAGAGCTGGTGGAGTCTGACGGTGTGCCCAAGCCCAGC
TTCTGGCCGACAGCCCAGAACTCGGGGGGCTCAGCTTACAGTGAGGAGAGGGATCGGCCATACGGCCTGGTGTCCATTGACACAGTGACTGTGCTAGATGCAGAG
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>IL21R|50615|protein
MPRGWAAPLLLLLLQGGWGCPDLVCYTDYLQTVICILEMWNLHPSTLTLTWQDQYEELKDEATSCSLHRSAHNATHATYTCHMDVFHFMADDIFSVNITDQSGNY
SQECGSFLLAESIKPAPPFNVTVTFSGQYNISWRSDYEDPAFYMLKGKLQYELQYRNRGDPWAVSPRRKLISVDSRSVSLLPLEFRKDSSYELQVRAGPMPGSSY
QGTWSEWSDPVIFQTQSEELKEGWNPHLLLLLLLVIVFIPAFWSLKTHPLWRLWKKIWAVPSPERFFMPLYKGCSGDFKKWVGAPFTGSSLELGPWSPEVPSTLE
VYSCHPPRSPAKRLQLTELQEPAELVESDGVPKPSFWPTAQNSGGSAYSEERDRPYGLVSIDTVTVLDAEGPCTWPCSCEDDGYPALDLDAGLEPSPGLEDPLLD
AGTTVLSCGCVSAGSPGLGGPLGSLLDRLKPPLADGEDWAGGLPWGGRSPGGVSESEAGSPLAGLDMDTFDSGFVGSDCSSPVECDFTSPGDEGPPRSYLRQWVV
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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) 1 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
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
Okamoto N, 2014 Japanese ---autism - - - - 2 - 2
Linkage Studies Top