AutismKB 2.0

Evidence Details for ENOX1


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Basic Information Top
Gene Symbol:ENOX1 ( CNOX,FLJ10094,PIG38,bA64J21.1,cCNOX )
Gene Full Name: ecto-NOX disulfide-thiol exchanger 1
Band: 13q14.11
Quick LinksEntrez ID:55068; OMIM: 610914; Uniprot ID:ENOX1_HUMAN; ENSEMBL ID: ENSG00000120658; HGNC ID: 25474
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ENOX1|55068|nucleotide
ATGGTAGATGCAGGTGGAGTTGAGAACATCACCCAGCTTCCCCAGGAGCTTCCTCAGATGATGGCTGCAGCAGCCGATGGTTTGGGGAGTATAGCGATAGACACG
ACCCAGCTCAACATGTCCGTGACAGATCCCACAGCCTGGGCTACAGCCATGAATAACCTGGGCATGGTTCCCGTAGGGTTGCCTGGACAGCAGCTCGTGTCTGAC
TCAATCTGTGTCCCAGGCTTTGATCCAAGCCTCAACATGATGACTGGAATCACCCCCATTAACCCAATGATACCAGGCCTTGGACTGGTACCTCCCCCACCACCA
ACAGAAGTGGCTGTTGTCAAAGAAATAATCCACTGCAAAAGCTGTACTCTTTTTCCTCAAAATCCAAATCTTCCACCTCCTTCCACAAGAGAACGACCTCCTGGG
TGTAAGACCGTGTTTGTCGGAGGATTACCAGAAAATGCTACTGAGGAAATTATTCAAGAAGTCTTTGAACAGTGCGGTGATATTACAGCAATTCGGAAAAGCAAG
AAGAATTTTTGTCACATTCGCTTTGCAGAGGAATTCATGGTTGATAAAGCCATTTACCTTTCTGGTTATAGGATGCGATTAGGGTCTAGCACCGACAAAAAGGAT
TCAGGCCGCCTTCATGTGGACTTTGCCCAGGCCAGGGATGACTTCTATGAGTGGGAATGCAAGCAGAGGATGCGTGCCCGGGAGGAGCGGCACCGGCGCAAGCTG
GAGGAGGACCGGCTCAGGCCCCCATCCCCGCCTGCCATAATGCACTACTCGGAGCACGAAGCCGCTCTGCTGGCTGAAAAGCTGAAAGATGATAGCAAGTTTTCA
GAGGCTATCACAGTGCTGCTTTCCTGGATTGAACGAGGGGAAGTGAATCGGCGCTCTGCAAACCAGTTCTATTCCATGGTGCAGTCGGCCAACAGCCACGTCCGC
CGGCTAATGAATGAAAAAGCCACCCATGAGCAAGAGATGGAGGAAGCCAAGGAGAATTTTAAAAATGCCTTAACTGGGATTCTCACTCAATTTGAGCAGATTGTG
GCCGTTTTCAACGCTTCTACCAGACAAAAAGCTTGGGACCATTTCTCGAAAGCCCAGCGCAAGAACATAGACATTTGGCGAAAGCATTCTGAGGAGCTCCGGAAT
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>ENOX1|55068|protein
MVDAGGVENITQLPQELPQMMAAAADGLGSIAIDTTQLNMSVTDPTAWATAMNNLGMVPVGLPGQQLVSDSICVPGFDPSLNMMTGITPINPMIPGLGLVPPPPP
TEVAVVKEIIHCKSCTLFPQNPNLPPPSTRERPPGCKTVFVGGLPENATEEIIQEVFEQCGDITAIRKSKKNFCHIRFAEEFMVDKAIYLSGYRMRLGSSTDKKD
SGRLHVDFAQARDDFYEWECKQRMRAREERHRRKLEEDRLRPPSPPAIMHYSEHEAALLAEKLKDDSKFSEAITVLLSWIERGEVNRRSANQFYSMVQSANSHVR
RLMNEKATHEQEMEEAKENFKNALTGILTQFEQIVAVFNASTRQKAWDHFSKAQRKNIDIWRKHSEELRNAQSEQLMGIRREEEMEMSDDENCDSPTKKMRVDES
ALAAQAYALKEENDSLRWQLDAYRNEVELLKQEKEQLFRTEENLTKDQQLQFLQQTMQGMQQQLLTIQEELNNKKSELEQAKEEQSHTQALLKVLQEQLKGTKEL
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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 (1) 0 (0) 2 (3)
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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top