Evidence Details for ENOX1
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 Links | Entrez 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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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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MVDAGGVENITQLPQELPQMMAAAADGLGSIAIDTTQLNMSVTDPTAWATAMNNLGMVPVGLPGQQLVSDSICVPGFDPSLNMMTGITPINPMIPGLGLVPPPPP
TEVAVVKEIIHCKSCTLFPQNPNLPPPSTRERPPGCKTVFVGGLPENATEEIIQEVFEQCGDITAIRKSKKNFCHIRFAEEFMVDKAIYLSGYRMRLGSSTDKKD
SGRLHVDFAQARDDFYEWECKQRMRAREERHRRKLEEDRLRPPSPPAIMHYSEHEAALLAEKLKDDSKFSEAITVLLSWIERGEVNRRSANQFYSMVQSANSHVR
RLMNEKATHEQEMEEAKENFKNALTGILTQFEQIVAVFNASTRQKAWDHFSKAQRKNIDIWRKHSEELRNAQSEQLMGIRREEEMEMSDDENCDSPTKKMRVDES
ALAAQAYALKEENDSLRWQLDAYRNEVELLKQEKEQLFRTEENLTKDQQLQFLQQTMQGMQQQLLTIQEELNNKKSELEQAKEEQSHTQALLKVLQEQLKGTKEL
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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-band | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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