AutismKB 2.0

Evidence Details for CLEC2B


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Basic Information Top
Gene Symbol:CLEC2B ( AICL,CLECSF2,HP10085,IFNRG1 )
Gene Full Name: C-type lectin domain family 2, member B
Band: 12p13.31
Quick LinksEntrez ID:9976; OMIM: 603242; Uniprot ID:CLC2B_HUMAN; ENSEMBL ID: ENSG00000110852; HGNC ID: 2053
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLEC2B|9976|nucleotide
ATGATGACCAAACATAAAAAGTGTTTTATAATTGTTGGTGTTTTAATAACAACTAATATTATTACTCTGATAGTTAAACTAACTCGAGATTCTCAGAGTTTATGC
CCCTATGATTGGATTGGTTTCCAAAACAAATGCTATTATTTCTCTAAAGAAGAAGGAGATTGGAATTCAAGTAAATACAACTGTTCCACTCAACATGCCGACCTA
ACTATAATTGACAACATAGAAGAAATGAATTTTCTTAGGCGGTATAAATGCAGTTCTGATCACTGGATTGGACTGAAGATGGCAAAAAATCGAACAGGACAATGG
GTAGATGGAGCTACATTTACCAAATCGTTTGGCATGAGAGGGAGTGAAGGATGTGCCTACCTCAGCGATGATGGTGCAGCAACAGCTAGATGTTACACCGAAAGA
AAATGGATTTGCAGGAAAAGAATACACTAA






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>CLEC2B|9976|protein
MMTKHKKCFIIVGVLITTNIITLIVKLTRDSQSLCPYDWIGFQNKCYYFSKEEGDWNSSKYNCSTQHADLTIIDNIEEMNFLRRYKCSSDHWIGLKMAKNRTGQW
VDGATFTKSFGMRGSEGCAYLSDDGAATARCYTERKWICRKRIH



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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 (2) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top