Evidence Details for IL21R
Basic Information Top
| Gene Symbol: | IL21R ( MGC10967,NILR ) |
|---|---|
| Gene Full Name: | interleukin 21 receptor |
| Band: | 16p12.1 |
| Quick Links | Entrez 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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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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MPRGWAAPLLLLLLQGGWGCPDLVCYTDYLQTVICILEMWNLHPSTLTLTWQDQYEELKDEATSCSLHRSAHNATHATYTCHMDVFHFMADDIFSVNITDQSGNY
SQECGSFLLAESIKPAPPFNVTVTFSGQYNISWRSDYEDPAFYMLKGKLQYELQYRNRGDPWAVSPRRKLISVDSRSVSLLPLEFRKDSSYELQVRAGPMPGSSY
QGTWSEWSDPVIFQTQSEELKEGWNPHLLLLLLLVIVFIPAFWSLKTHPLWRLWKKIWAVPSPERFFMPLYKGCSGDFKKWVGAPFTGSSLELGPWSPEVPSTLE
VYSCHPPRSPAKRLQLTELQEPAELVESDGVPKPSFWPTAQNSGGSAYSEERDRPYGLVSIDTVTVLDAEGPCTWPCSCEDDGYPALDLDAGLEPSPGLEDPLLD
AGTTVLSCGCVSAGSPGLGGPLGSLLDRLKPPLADGEDWAGGLPWGGRSPGGVSESEAGSPLAGLDMDTFDSGFVGSDCSSPVECDFTSPGDEGPPRSYLRQWVV
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Evidence summary 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 | 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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | ![]() | ![]() | autism with FMR1-FM | autism | 15 (-) |
1.14 | Up | 0.00000015 | |
| ||||||||||||
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | ![]() | ![]() | autism with dup(15q) | autism | 15 (-) |
1.13 | Up | 0.00000015 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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