AutismKB 2.0

Evidence Details for OTOA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OTOA ( CT108,DFNB22,FLJ32773,MGC157747,MGC39813 )
Gene Full Name: otoancorin
Band: 16p12.2
Quick LinksEntrez 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
Show »

>OTOA|146183|protein
MGNSITYRDQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRTAMKCLLEDKKDGLDLKDIIIDLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEILGKVL
RGSSGSFLQPDITERLPRDLREDAFKNLSAVFKDLYDKTSAHSQRALYSWMTGILQTSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIEIGLFISYDN
ATKQLDMVYDITPELAQAFLERISSSNFNMRNTSTIHRLGLLVCFYNDLELLDATVAQVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAV
VGLTYSQLESLSPEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMKRKDISQVLRSAVSQYVSDLSPAQQQGILSKMVQ
AEDTAPGIVEIQGAFFKEVSLFDLRRQPGFNSTVLKDKELGRSQALFLYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLAHFQDFQNNFALLSPYQVN
Show »

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 (4) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Okamoto N, 2014 Japanese ---autism - - - - 2 - 2
Linkage Studies Top