AutismKB 2.0

Evidence Details for HSD11B2


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Basic Information Top
Gene Symbol:HSD11B2 ( AME,AME1,HSD11K,HSD2,SDR9C3 )
Gene Full Name: hydroxysteroid (11-beta) dehydrogenase 2
Band: 16q22.1
Quick LinksEntrez ID:3291; OMIM: 218030; Uniprot ID:DHI2_HUMAN; ENSEMBL ID: ENSG00000176387; HGNC ID: 5209
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSD11B2|3291|nucleotide
ATGGAGCGCTGGCCTTGGCCGTCGGGCGGCGCCTGGCTGCTCGTGGCTGCCCGCGCGCTGCTGCAGCTGCTGCGCTCAGACCTGCGTCTGGGCCGCCCGCTGCTG
GCGGCGCTGGCGCTGCTGGCCGCGCTCGACTGGCTGTGCCAGCGCCTGCTGCCCCCGCCGGCCGCACTCGCCGTGCTGGCCGCCGCCGGCTGGATCGCGTTGTCC
CGCCTGGCGCGCCCGCAGCGCCTGCCGGTGGCCACTCGCGCGGTGCTCATCACCGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATG
GGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACC
AAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCT
GATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCA
AGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACA
TTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAG
CAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATG
TCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATC
CACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCA
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>HSD11B2|3291|protein
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSM
GFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSS
RGRIVTVGSPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAM
SDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top