AutismKB 2.0

Evidence Details for EPHX2


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Basic Information Top
Gene Symbol:EPHX2 ( CEH,SEH )
Gene Full Name: epoxide hydrolase 2, cytoplasmic
Band: 8p21.2-p21.1
Quick LinksEntrez ID:2053; OMIM: 132811; Uniprot ID:HYES_HUMAN; ENSEMBL ID: ENSG00000120915; HGNC ID: 3402
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPHX2|2053|nucleotide
ATGACGCTGCGCGCGGCCGTCTTCGACCTTGACGGGGTGCTGGCGCTGCCAGCGGTGTTCGGCGTCCTCGGCCGCACGGAGGAGGCCCTGGCGCTGCCCAGAGGA
CTTCTGAATGATGCTTTCCAGAAAGGGGGACCAGAGGGTGCCACTACCCGGCTTATGAAAGGAGAGATCACACTTTCCCAGTGGATACCACTCATGGAAGAAAAC
TGCAGGAAGTGCTCCGAGACCGCTAAAGTCTGCCTCCCCAAGAATTTCTCCATAAAAGAAATCTTTGACAAGGCGATTTCAGCCAGAAAGATCAACCGCCCCATG
CTCCAGGCAGCTCTCATGCTCAGGAAGAAAGGATTCACTACTGCCATCCTCACCAACACCTGGCTGGACGACCGTGCTGAGAGAGATGGCCTGGCCCAGCTGATG
TGTGAGCTGAAGATGCACTTTGACTTCCTGATAGAGTCGTGTCAGGTGGGAATGGTCAAACCTGAACCTCAGATCTACAAGTTTCTGCTGGACACCCTGAAGGCC
AGCCCCAGTGAGGTCGTTTTTTTGGATGACATCGGGGCTAATCTGAAGCCAGCCCGTGACTTGGGAATGGTCACCATCCTGGTCCAGGACACTGACACGGCCCTG
AAAGAACTGGAGAAAGTGACCGGAATCCAGCTTCTCAATACCCCGGCCCCTCTGCCGACCTCTTGCAATCCAAGTGACATGAGCCATGGGTACGTGACAGTAAAG
CCCAGGGTCCGTCTGCATTTTGTGGAGCTGGGCTCCGGCCCTGCTGTGTGCCTCTGCCATGGATTTCCCGAGAGTTGGTATTCTTGGAGGTACCAGATCCCTGCT
CTGGCCCAGGCAGGTTACCGGGTCCTAGCTATGGACATGAAAGGCTATGGAGAGTCATCTGCTCCTCCCGAAATAGAAGAATATTGCATGGAAGTGTTATGTAAG
GAGATGGTAACCTTCCTGGATAAACTGGGCCTCTCTCAAGCAGTGTTCATTGGCCATGACTGGGGTGGCATGCTGGTGTGGTACATGGCTCTCTTCTACCCCGAG
AGAGTGAGGGCGGTGGCCAGTTTGAATACTCCCTTCATACCAGCAAATCCCAACATGTCCCCTTTGGAGAGTATCAAAGCCAACCCAGTATTTGATTACCAGCTC
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>EPHX2|2053|protein
MTLRAAVFDLDGVLALPAVFGVLGRTEEALALPRGLLNDAFQKGGPEGATTRLMKGEITLSQWIPLMEENCRKCSETAKVCLPKNFSIKEIFDKAISARKINRPM
LQAALMLRKKGFTTAILTNTWLDDRAERDGLAQLMCELKMHFDFLIESCQVGMVKPEPQIYKFLLDTLKASPSEVVFLDDIGANLKPARDLGMVTILVQDTDTAL
KELEKVTGIQLLNTPAPLPTSCNPSDMSHGYVTVKPRVRLHFVELGSGPAVCLCHGFPESWYSWRYQIPALAQAGYRVLAMDMKGYGESSAPPEIEEYCMEVLCK
EMVTFLDKLGLSQAVFIGHDWGGMLVWYMALFYPERVRAVASLNTPFIPANPNMSPLESIKANPVFDYQLYFQEPGVAEAELEQNLSRTFKSLFRASDESVLSMH
KVCEAGGLFVNSPEEPSLSRMVTEEEIQFYVQQFKKSGFRGPLNWYRNMERNWKWACKSLGRKILIPALMVTAEKDFVLVPQMSQHMEDWIPHLKRGHIEDCGHW
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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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top