Evidence Details for CLEC2B
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 Links | Entrez 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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ATGATGACCAAACATAAAAAGTGTTTTATAATTGTTGGTGTTTTAATAACAACTAATATTATTACTCTGATAGTTAAACTAACTCGAGATTCTCAGAGTTTATGC
CCCTATGATTGGATTGGTTTCCAAAACAAATGCTATTATTTCTCTAAAGAAGAAGGAGATTGGAATTCAAGTAAATACAACTGTTCCACTCAACATGCCGACCTA
ACTATAATTGACAACATAGAAGAAATGAATTTTCTTAGGCGGTATAAATGCAGTTCTGATCACTGGATTGGACTGAAGATGGCAAAAAATCGAACAGGACAATGG
GTAGATGGAGCTACATTTACCAAATCGTTTGGCATGAGAGGGAGTGAAGGATGTGCCTACCTCAGCGATGATGGTGCAGCAACAGCTAGATGTTACACCGAAAGA
AAATGGATTTGCAGGAAAAGAATACACTAA
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>CLEC2B|9976|protein
MMTKHKKCFIIVGVLITTNIITLIVKLTRDSQSLCPYDWIGFQNKCYYFSKEEGDWNSSKYNCSTQHADLTIIDNIEEMNFLRRYKCSSDHWIGLKMAKNRTGQW
VDGATFTKSFGMRGSEGCAYLSDDGAATARCYTERKWICRKRIH
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MMTKHKKCFIIVGVLITTNIITLIVKLTRDSQSLCPYDWIGFQNKCYYFSKEEGDWNSSKYNCSTQHADLTIIDNIEEMNFLRRYKCSSDHWIGLKMAKNRTGQW
VDGATFTKSFGMRGSEGCAYLSDDGAATARCYTERKWICRKRIH
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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 (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 microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 3
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.19272 | Up | 0.00753267 | |
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Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | - | AD | 22 (13.64%) |
1.2 | Up | 0.102 | |||
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Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
-2.53 | Down | 0.00145 | |
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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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