Evidence Details for OTOA
Basic Information Top
| Gene Symbol: | OTOA ( CT108,DFNB22,FLJ32773,MGC157747,MGC39813 ) |
|---|---|
| Gene Full Name: | otoancorin |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:146183; OMIM: 607038; Uniprot ID:OTOAN_HUMAN; ENSEMBL ID: ENSG00000155719; HGNC ID: 16378 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>OTOA|146183|nucleotide
ATGGGAAACTCAATCACCTACAGGGACCAGGCAGCCGTGGAAAACCACCTGGAGCAGCGTCTGCACCAGCCCCAGAAGCTGCTGGAGGACCTGAGGAAGACAGAC
GCCCAGCAGTTCCGCACTGCCATGAAATGCCTCTTAGAAGACAAGAAGGACGGCTTGGACCTGAAAGACATCATCATCGACTTAGGAGAGATTCGAGAACGAGCC
TTGCAGAGCCCTGGCGTGAACCGCAGCCTGTTTCTCATCACACTGGAGAGGTGTTTCCAGATGCTGAACTCCCTGGAGTGTGTGGAGATCCTGGGCAAGGTGCTG
AGGGGGTCCTCAGGGAGCTTTCTCCAGCCAGACATCACAGAGCGGCTCCCTCGGGACCTGCGCGAGGATGCCTTTAAGAACCTATCTGCAGTGTTCAAAGATCTC
TACGACAAAACCTCGGCTCATTCCCAGAGAGCTCTCTATTCCTGGATGACTGGAATACTGCAGACATCCTCCAATGCCACTGATGACTCTGCTTCATGGGTCAGT
GCGGAACACTTATGGGTTTTGGGCAGATACATGGTTCACCTATCGTTTGAAGAAATTACGAAAATTAGTCCTATAGAAATTGGGCTGTTTATCAGCTATGACAAC
GCCACCAAGCAGCTGGACATGGTCTATGACATCACACCTGAGCTGGCCCAGGCGTTTCTGGAGAGGATCAGCTCCTCCAACTTTAACATGAGGAATACCTCCACC
ATCCACAGGCTGGGGCTGCTGGTTTGTTTCTACAATGACCTGGAATTGCTGGATGCCACTGTGGCTCAAGTCCTGCTTTACCAGATGATCAAGTGCAGCCACCTG
AGGGGCTTCCAGGCTGGCGTCCAGAAGCTCAAAGCAGAACTCCTGGACATTGCCATGGAGAACCAGACCCTCAATGAGACCCTGGGTTCTTTGTCGGATGCAGTT
GTAGGTTTGACCTACAGCCAACTGGAATCCCTCTCCCCCGAGGCTGTGCACGGAGCCATCTCCACCCTCAACCAGGTCTCAGGTTGGGCCAAGAGCCAGGTCATC
ATCTTGTCTGCCAAATACTTGGCCCATGAGAAGGTGCTGTCTTTCTACAATGTCAGCCAGATGGGCGCACTGCTGGCTGGGGTCAGCACCCAGGCCTTCTGCAGC
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ATGGGAAACTCAATCACCTACAGGGACCAGGCAGCCGTGGAAAACCACCTGGAGCAGCGTCTGCACCAGCCCCAGAAGCTGCTGGAGGACCTGAGGAAGACAGAC
GCCCAGCAGTTCCGCACTGCCATGAAATGCCTCTTAGAAGACAAGAAGGACGGCTTGGACCTGAAAGACATCATCATCGACTTAGGAGAGATTCGAGAACGAGCC
TTGCAGAGCCCTGGCGTGAACCGCAGCCTGTTTCTCATCACACTGGAGAGGTGTTTCCAGATGCTGAACTCCCTGGAGTGTGTGGAGATCCTGGGCAAGGTGCTG
AGGGGGTCCTCAGGGAGCTTTCTCCAGCCAGACATCACAGAGCGGCTCCCTCGGGACCTGCGCGAGGATGCCTTTAAGAACCTATCTGCAGTGTTCAAAGATCTC
TACGACAAAACCTCGGCTCATTCCCAGAGAGCTCTCTATTCCTGGATGACTGGAATACTGCAGACATCCTCCAATGCCACTGATGACTCTGCTTCATGGGTCAGT
GCGGAACACTTATGGGTTTTGGGCAGATACATGGTTCACCTATCGTTTGAAGAAATTACGAAAATTAGTCCTATAGAAATTGGGCTGTTTATCAGCTATGACAAC
GCCACCAAGCAGCTGGACATGGTCTATGACATCACACCTGAGCTGGCCCAGGCGTTTCTGGAGAGGATCAGCTCCTCCAACTTTAACATGAGGAATACCTCCACC
ATCCACAGGCTGGGGCTGCTGGTTTGTTTCTACAATGACCTGGAATTGCTGGATGCCACTGTGGCTCAAGTCCTGCTTTACCAGATGATCAAGTGCAGCCACCTG
AGGGGCTTCCAGGCTGGCGTCCAGAAGCTCAAAGCAGAACTCCTGGACATTGCCATGGAGAACCAGACCCTCAATGAGACCCTGGGTTCTTTGTCGGATGCAGTT
GTAGGTTTGACCTACAGCCAACTGGAATCCCTCTCCCCCGAGGCTGTGCACGGAGCCATCTCCACCCTCAACCAGGTCTCAGGTTGGGCCAAGAGCCAGGTCATC
ATCTTGTCTGCCAAATACTTGGCCCATGAGAAGGTGCTGTCTTTCTACAATGTCAGCCAGATGGGCGCACTGCTGGCTGGGGTCAGCACCCAGGCCTTCTGCAGC
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>OTOA|146183|protein
MGNSITYRDQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRTAMKCLLEDKKDGLDLKDIIIDLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEILGKVL
RGSSGSFLQPDITERLPRDLREDAFKNLSAVFKDLYDKTSAHSQRALYSWMTGILQTSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIEIGLFISYDN
ATKQLDMVYDITPELAQAFLERISSSNFNMRNTSTIHRLGLLVCFYNDLELLDATVAQVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAV
VGLTYSQLESLSPEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMKRKDISQVLRSAVSQYVSDLSPAQQQGILSKMVQ
AEDTAPGIVEIQGAFFKEVSLFDLRRQPGFNSTVLKDKELGRSQALFLYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLAHFQDFQNNFALLSPYQVN
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MGNSITYRDQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRTAMKCLLEDKKDGLDLKDIIIDLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEILGKVL
RGSSGSFLQPDITERLPRDLREDAFKNLSAVFKDLYDKTSAHSQRALYSWMTGILQTSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIEIGLFISYDN
ATKQLDMVYDITPELAQAFLERISSSNFNMRNTSTIHRLGLLVCFYNDLELLDATVAQVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAV
VGLTYSQLESLSPEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMKRKDISQVLRSAVSQYVSDLSPAQQQGILSKMVQ
AEDTAPGIVEIQGAFFKEVSLFDLRRQPGFNSTVLKDKELGRSQALFLYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLAHFQDFQNNFALLSPYQVN
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Evidence summary TopClick 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 (4) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Okamoto N, 2014 | Japanese | - | - | - | autism | - | - | - | - | 2 | - | 2 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Philippi, 2005_1 | AGRE | SNPlex, ABI 3730, the GeneMapper software(Applied Biosystems, Foster City) | 116 | - (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.