AutismKB 2.0

Evidence Details for D2HGDH


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Basic Information Top
Gene Symbol:D2HGDH ( D2HGD,FLJ42195,MGC25181 )
Gene Full Name: D-2-hydroxyglutarate dehydrogenase
Band: 2q37.3
Quick LinksEntrez ID:728294; OMIM: 609186; Uniprot ID:D2HDH_HUMAN; ENSEMBL ID: ENSG00000180902; HGNC ID: 28358
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>D2HGDH|728294|nucleotide
ATGCTGCCCCGTCGGCCTCTGGCGTGGCCCGCGTGGCTGTTGCGGGGTGCTCCGGGAGCCGCGGGTTCTTGGGGTCGGCCGGTTGGCCCCCTGGCCCGCAGAGGC
TGCTGCTCCGCCCCGGGGACCCCCGAGGTGCCGCTGACCCGGGAGCGCTACCCCGTGCGGCGCTTGCCGTTCTCCACGGTGTCTAAGCAGGACCTGGCCGCCTTT
GAGCGCATCGTGCCCGGCGGGGTCGTCACGGACCCGGAAGCGCTGCAGGCTCCCAACGTGGACTGGTTGCGGACGCTGCGAGGCTGTAGCAAGGTGCTGCTGAGG
CCACGGACGTCGGAGGAGGTGTCCCACATCCTCAGGCACTGCCACGAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTC
CCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCACAGCGTGTCTGGAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAG
GAGCTGAGCCGGTATGTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATCGGGGGAAACGTGGCAACCAACGCTGGAGGC
CTGCGGTTTCTTCGATATGGCTCACTGCATGGGACTGTCCTGGGCCTGGAAGTGGTGCTGGCCGACGGCACTGTCCTGGACTGCCTGACCTCCCTGAGGAAGGAC
AACACGGGCTATGACCTGAAGCAGCTGTTCATCGGGTCGGAGGGCACTTTGGGGATCATCACCACGGTGTCCATCTTGTGTCCACCCAAGCCCAGGGCTGTGAAC
GTGGCTTTCCTCGGCTGCCCAGGCTTTGCTGAGGTTCTGCAGACCTTCAGCACCTGCAAGGGGATGCTGGGTGAGATCCTGTCTGCATTCGAGTTCATGGATGCT
GTGTGCATGCAGCTGGTCGGGCGCCATCTCCACCTGGCCAGCCCGGTGCAAGAGAGTCCGTTTTACGTCCTCATCGAGACTTCAGGCTCCAACGCAGGCCATGAC
GCTGAGAAGCTGGGCCACTTCCTGGAGCACGCGCTGGGCTCCGGCCTGGTGACCGATGGGACCATGGCCACCGACCAGAGGAAAGTCAAGATGCTGTGGGCCCTG
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>D2HGDH|728294|protein
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLR
PRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGG
LRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDA
VCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA
RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 1 (4)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top