AutismKB 2.0

Evidence Details for TMEM86B


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Basic Information Top
Gene Symbol:TMEM86B ( MGC30208 )
Gene Full Name: transmembrane protein 86B
Band: 19q13.42
Quick LinksEntrez ID:255043; OMIM: NA; Uniprot ID:TM86B_HUMAN; ENSEMBL ID: ENSG00000180089; HGNC ID: 28448
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM86B|255043|nucleotide
ATGGACGCTGGCAAAGCGGGGCAGACCCTGAAGACTCACTGCTCAGCCCAGCGCCCAGATGTCTGCAGGTGGCTGAGCCCCTTCATCCTCTCCTGCTGCGTGTAC
TTCTGCCTCTGGATTCCCGAGGACCAGCTGTCCTGGTTCGCTGCCCTGGTCAAGTGCCTGCCCGTCCTCTGCCTGGCTGGGTTCCTGTGGGTCATGTCCCCAAGC
GGGGGCTACACCCAGCTCCTCCAGGGAGCCCTTGTGTGCTCGGCTGTGGGGGACGCTTGCCTCATCTGGCCGGCAGCCTTCGTCCCTGGCATGGCCGCCTTTGCC
ACCGCCCACCTCCTCTACGTCTGGGCCTTCGGCTTCTCTCCCCTGCAGCCCGGCCTGCTGCTGCTCATCATCCTGGCCCCTGGCCCCTACCTCAGCCTTGTGCTC
CAGCACCTCGAGCCGGATATGGTCCTGCCGGTGGCAGCCTATGGGCTGATCCTGATGGCCATGCTGTGGCGCGGCCTGGCCCAGGGCGGGAGTGCCGGCTGGGGC
GCGCTGCTCTTCACGCTCTCTGATGGCGTGCTGGCCTGGGACACCTTCGCCCAGCCCCTGCCCCATGCCCACCTGGTGATCATGACCACCTACTATGCTGCCCAG
CTCCTCATCACACTGTCAGCCCTCAGGAGCCCGGTGCCCAAGACTGACTGA




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>TMEM86B|255043|protein
MDAGKAGQTLKTHCSAQRPDVCRWLSPFILSCCVYFCLWIPEDQLSWFAALVKCLPVLCLAGFLWVMSPSGGYTQLLQGALVCSAVGDACLIWPAAFVPGMAAFA
TAHLLYVWAFGFSPLQPGLLLLIILAPGPYLSLVLQHLEPDMVLPVAAYGLILMAMLWRGLAQGGSAGWGALLFTLSDGVLAWDTFAQPLPHAHLVIMTTYYAAQ
LLITLSALRSPVPKTD


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top