AutismKB 2.0

Evidence Details for IL28RA


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Basic Information Top
Gene Symbol:IL28RA ( CRF2/12,IFNLR,IFNLR1,IL-28R1,LICR2 )
Gene Full Name: interleukin 28 receptor, alpha (interferon, lambda receptor)
Band: 1p36.11
Quick LinksEntrez ID:163702; OMIM: 607404; Uniprot ID:I28RA_HUMAN; ENSEMBL ID: ENSG00000185436; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IL28RA|163702|nucleotide
ATGGCGGGGCCCGAGCGCTGGGGCCCCCTGCTCCTGTGCCTGCTGCAGGCCGCTCCAGGGAGGCCCCGTCTGGCCCCTCCCCAGAATGTGACGCTGCTCTCCCAG
AACTTCAGCGTGTACCTGACATGGCTCCCAGGGCTTGGCAACCCCCAGGATGTGACCTATTTTGTGGCCTATCAGAGCTCTCCCACCCGTAGACGGTGGCGCGAA
GTGGAAGAGTGTGCGGGAACCAAGGAGCTGCTATGTTCTATGATGTGCCTGAAGAAACAGGACCTGTACAACAAGTTCAAGGGACGCGTGCGGACGGTTTCTCCC
AGCTCCAAGTCCCCCTGGGTGGAGTCCGAATACCTGGATTACCTTTTTGAAGTGGAGCCGGCCCCACCTGTCCTGGTGCTCACCCAGACGGAGGAGATCCTGAGT
GCCAATGCCACGTACCAGCTGCCCCCCTGCATGCCCCCACTGGATCTGAAGTATGAGGTGGCATTCTGGAAGGAGGGGGCCGGAAACAAGACCCTATTTCCAGTC
ACTCCCCATGGCCAGCCAGTCCAGATCACTCTCCAGCCAGCTGCCAGCGAACACCACTGCCTCAGTGCCAGAACCATCTACACGTTCAGTGTCCCGAAATACAGC
AAGTTCTCTAAGCCCACCTGCTTCTTGCTGGAGGTCCCAGAAGCCAACTGGGCTTTCCTGGTGCTGCCATCGCTTCTGATACTGCTGTTAGTAATTGCCGCAGGG
GGTGTGATCTGGAAGACCCTCATGGGGAACCCCTGGTTTCAGCGGGCAAAGATGCCACGGGCCCTGGACTTTTCTGGACACACACACCCTGTGGCAACCTTTCAG
CCCAGCAGACCAGAGTCCGTGAATGACTTGTTCCTCTGTCCCCAAAAGGAACTGACCAGAGGGGTCAGGCCGACGCCTCGAGTCAGGGCCCCAGCCACCCAACAG
ACAAGATGGAAGAAGGACCTTGCAGAGGACGAAGAGGAGGAGGATGAGGAGGACACAGAAGATGGCGTCAGCTTCCAGCCCTACATTGAACCACCTTCTTTCCTG
GGGCAAGAGCACCAGGCTCCAGGGCACTCGGAGGCTGGTGGGGTGGACTCAGGGAGGCCCAGGGCTCCTCTGGTCCCAAGCGAAGGCTCCTCTGCTTGGGATTCT
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>IL28RA|163702|protein
MAGPERWGPLLLCLLQAAPGRPRLAPPQNVTLLSQNFSVYLTWLPGLGNPQDVTYFVAYQSSPTRRRWREVEECAGTKELLCSMMCLKKQDLYNKFKGRVRTVSP
SSKSPWVESEYLDYLFEVEPAPPVLVLTQTEEILSANATYQLPPCMPPLDLKYEVAFWKEGAGNKTLFPVTPHGQPVQITLQPAASEHHCLSARTIYTFSVPKYS
KFSKPTCFLLEVPEANWAFLVLPSLLILLLVIAAGGVIWKTLMGNPWFQRAKMPRALDFSGHTHPVATFQPSRPESVNDLFLCPQKELTRGVRPTPRVRAPATQQ
TRWKKDLAEDEEEEDEEDTEDGVSFQPYIEPPSFLGQEHQAPGHSEAGGVDSGRPRAPLVPSEGSSAWDSSDRSWASTVDSSWDRAGSSGYLAEKGPGQGPGGDG
HQESLPPPEFSKDSGFLEELPEDNLSSWATWGTLPPEPNLVPGGPPVSLQTLTFCWESSPEEEEEARESEIEDSDAGSWGAESTQRTEDRGRTLGHYMAR
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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) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
-1.18 Down 0.0762
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_2405324
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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