AutismKB 2.0

Evidence Details for DBH


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Basic Information Top
Gene Symbol:DBH ( DBM )
Gene Full Name: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
Band: 9q34.2
Quick LinksEntrez ID:1621; OMIM: 609312; Uniprot ID:DOPO_HUMAN; ENSEMBL ID: ENSG00000123454; HGNC ID: 2689
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DBH|1621|nucleotide
ATGCCCGCCCTCAGTCGCTGGGCCAGCCTGCCCGGCCCCAGCATGCGGGAGGCAGCCTTCATGTACAGCACAGCAGTGGCCATCTTCCTGGTCATCCTGGTGGCC
GCACTGCAGGGCTCGGCTCCCCGTGAGAGCCCCCTCCCCTATCACATCCCCCTGGACCCGGAGGGGTCCCTGGAGCTCTCATGGAATGTCAGCTACACCCAGGAG
GCCATCCATTTCCAGCTCCTGGTGCGGAGGCTCAAGGCTGGCGTCCTGTTTGGGATGTCCGACCGTGGCGAGCTTGAGAACGCAGATCTCGTGGTGCTCTGGACC
GATGGGGACACTGCCTATTTTGCGGACGCCTGGAGTGACCAGAAGGGGCAGATCCACCTGGATCCCCAGCAGGACTACCAGCTGCTGCAGGTGCAGAGGACCCCA
GAAGGCCTGACCCTGCTTTTCAAGAGGCCCTTTGGCACCTGCGACCCCAAGGATTACCTCATTGAAGACGGCACTGTCCACTTGGTCTACGGGATCCTGGAGGAG
CCGTTCCGGTCACTGGAGGCCATCAACGGCTCGGGCCTGCAGATGGGGCTGCAGAGGGTGCAGCTCCTGAAGCCCAATATCCCCGAACCGGAGTTGCCCTCAGAC
GCGTGCACCATGGAGGTCCAAGCTCCCAATATCCAGATCCCCAGCCAGGAGACCACGTACTGGTGCTACATTAAGGAGCTTCCAAAGGGCTTCTCTCGGCACCAC
ATTATCAAGTACGAGCCCATCGTCACCAAGGGCAATGAGGCCCTTGTCCACCACATGGAAGTCTTCCAGTGCGCCCCCGAGATGGACAGCGTCCCCCACTTCAGC
GGGCCCTGCGACTCCAAGATGAAACCCGACCGCCTCAACTACTGCCGCCACGTGCTGGCCGCCTGGGCCCTGGGTGCCAAGGCATTTTACTACCCAGAGGAAGCC
GGCCTTGCCTTCGGGGGTCCAGGGTCCTCCAGATATCTCCGCCTGGAAGTTCACTACCACAACCCACTGGTGATAGAAGGACGAAACGACTCCTCAGGCATCCGC
TTGTACTACACAGCCAAGCTGCGGCGCTTCAACGCGGGGATCATGGAGCTGGGACTGGTGTACACGCCAGTGATGGCCATTCCACCACGGGAGACCGCCTTCATC
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>DBH|1621|protein
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLWT
DGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSD
ACTMEVQAPNIQIPSQETTYWCYIKELPKGFSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEA
GLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKV
VTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNE
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 12 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top