AutismKB 2.0

Evidence Details for HSD3B2


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Basic Information Top
Gene Symbol:HSD3B2 ( HSD3B,HSDB,SDR11E2 )
Gene Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Band: 1p12
Quick LinksEntrez ID:3284; OMIM: 201810; Uniprot ID:3BHS2_HUMAN; ENSEMBL ID: ENSG00000203859; HGNC ID: 5218
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSD3B2|3284|nucleotide
ATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGAC
AAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAAGCTCCAGAACAGGACCAAGCTGACTGTACTTGAAGGAGACATTCTGGATGAGCCATTCCTGAAAAGA
GCCTGCCAGGACGTCTCGGTCGTCATCCACACCGCCTGTATCATTGATGTCTTTGGTGTCACTCACAGAGAGTCCATCATGAATGTCAATGTGAAAGGTACCCAG
CTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGC
CACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAAT
GGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATC
CTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCC
CCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGAT
TCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAAC
CGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAG
AAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGA
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>HSD3B2|3284|protein
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQ
LLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGI
LSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFN
RHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ

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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top