AutismKB 2.0

Evidence Details for APEX2


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Basic Information Top
Gene Symbol:APEX2 ( APE2,APEXL2,XTH2 )
Gene Full Name: APEX nuclease (apurinic/apyrimidinic endonuclease) 2
Band: Xp11.21
Quick LinksEntrez ID:27301; OMIM: 300773; Uniprot ID:APEX2_HUMAN; ENSEMBL ID: ENSG00000169188; HGNC ID: 17889
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APEX2|27301|nucleotide
ATGTTGCGCGTGGTGAGCTGGAACATCAATGGGATTCGGAGACCCCTGCAAGGGGTGGCAAATCAGGAACCCAGCAACTGTGCCGCCGTGGCCGTGGGGCGCATT
TTGGACGAGCTGGATGCGGATATCGTCTGTCTCCAGGAAACCAAAGTGACCAGGGATGCACTGACAGAGCCCCTGGCTATCGTTGAGGGTTATAACTCCTATTTC
AGCTTCAGCCGCAACCGTAGCGGCTATTCTGGTGTAGCCACCTTCTGTAAGGACAATGCTACCCCAGTGGCTGCTGAAGAAGGCCTGAGTGGCCTGTTTGCCACC
CAGAATGGGGATGTTGGTTGCTATGGAAACATGGATGAGTTTACCCAAGAGGAACTCCGGGCTCTGGATAGTGAGGGCAGGGCCCTCCTCACACAGCATAAGATC
CGCACATGGGAAGGTAAGGAGAAGACCTTGACCCTAATCAACGTGTACTGCCCCCATGCGGACCCTGGGAGGCCTGAGCGGCTAGTCTTTAAGATGCGCTTCTAT
CGTTTGCTGCAAATCCGAGCAGAAGCCCTCCTGGCGGCAGGCAGCCATGTGATCATTCTGGGTGACCTGAATACAGCCCACCGCCCCATTGACCACTGGGATGCA
GTCAACCTGGAATGCTTTGAAGAGGACCCAGGGCGCAAGTGGATGGACAGCTTGCTCAGTAACTTGGGGTGCCAGTCTGCCTCTCATGTAGGGCCCTTCATCGAT
AGCTACCGCTGCTTCCAACCAAAGCAGGAGGGGGCCTTCACCTGCTGGTCAGCAGTCACTGGCGCCCGCCATCTCAACTATGGCTCCCGGCTTGACTATGTGCTG
GGGGACAGGACCCTGGTCATAGACACCTTTCAGGCCTCTTTCCTGCTGCCTGAGGTGATGGGCTCTGACCACTGCCCTGTGGGTGCAGTCTTGAGTGTGTCCTCT
GTGCCTGCAAAACAGTGCCCACCTCTGTGCACCCGCTTCCTCCCTGAGTTTGCAGGCACCCAGCTCAAGATCCTTCGCTTCCTAGTTCCTCTCGAACAAAGTCCT
GTGTTGGAGCAGTCGACGCTGCAGCACAACAATCAAACCCGGGTACAGACATGCCAAAACAAAGCCCAAGTGCGCTCAACCAGGCCTCAGCCCAGTCAGGTTGGC
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>APEX2|27301|protein
MLRVVSWNINGIRRPLQGVANQEPSNCAAVAVGRILDELDADIVCLQETKVTRDALTEPLAIVEGYNSYFSFSRNRSGYSGVATFCKDNATPVAAEEGLSGLFAT
QNGDVGCYGNMDEFTQEELRALDSEGRALLTQHKIRTWEGKEKTLTLINVYCPHADPGRPERLVFKMRFYRLLQIRAEALLAAGSHVIILGDLNTAHRPIDHWDA
VNLECFEEDPGRKWMDSLLSNLGCQSASHVGPFIDSYRCFQPKQEGAFTCWSAVTGARHLNYGSRLDYVLGDRTLVIDTFQASFLLPEVMGSDHCPVGAVLSVSS
VPAKQCPPLCTRFLPEFAGTQLKILRFLVPLEQSPVLEQSTLQHNNQTRVQTCQNKAQVRSTRPQPSQVGSSRGQKNLKSYFQPSPSCPQASPDIELPSLPLMSA
LMTPKTPEEKAVAKVVKGQAKTSEAKDEKELRTSFWKSVLAGPLRTPLCGGHREPCVMRTVKKPGPNLGRRFYMCARPRGPPTDPSSRCNFFLWSRPS
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top