AutismKB 2.0

Evidence Details for TBC1D2B


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Basic Information Top
Gene Symbol:TBC1D2B ( FLJ20166,KIAA1055 )
Gene Full Name: TBC1 domain family, member 2B
Band: 15q24.3-q25.1
Quick LinksEntrez ID:23102; OMIM: NA; Uniprot ID:TBD2B_HUMAN; ENSEMBL ID: ENSG00000167202; HGNC ID: 29183
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBC1D2B|23102|nucleotide
ATGCCGGGGGCCGGAGCCCGGGCGGAGGAGGGCGGCGGCGGCGGCGAGGGCGCGGCGCAGGGGGCGGCCGCGGAGCCCGGGGCGGGTCCGGCGCGGGAGCCAGCG
CGGCTGTGTGGCTATCTGCAGAAGCTGTCGGGCAAGGGCCCCCTGCGTGGCTACCGCAGCCGCTGGTTCGTGTTCGACGCGCGCCGCTGCTACCTTTACTATTTC
AAGAGTCCGCAGGACGCGCTGCCCCTCGGCCACTTGGACATCGCGGACGCCTGCTTCAGCTACCAGGGCCCCGACGAGGCGGCGGAGCCGGGCACGGAGCCGCCC
GCGCACTTCCAGGTGCACAGCGCGGGAGCCGTCACGGTGCTCAAGGCTCCCAATCGTCAACTCATGACTTACTGGTTACAGGAGCTTCAGCAGAAGAGATGGGAA
TATTGTAACAGTCTTGACATGGTCAAGTGGGACAGCAGGACCTCTCCAACTCCCGGGGATTTTCCTAAGGGTCTTGTAGCCAGAGATAACACTGATTTAATTTAC
CCACACCCAAATGCTTCTGCAGAAAAAGCCAGAAATGTCCTAGCTGTGGAGACTGTGCCTGGAGAGCTGGTGGGAGAACAAGCTGCAAATCAGCCCGCCCCAGGG
CATCCAAATTCCATTAATTTTTACTCTTTGAAACAGTGGGGCAATGAGCTCAAGAATTCGATGTCTTCTTTCCGTCCTGGGAGAGGACATAATGATAGTCGGAGG
ACTGTGTTTTATACCAATGAAGAGTGGGAACTTTTAGACCCAACCCCTAAGGACCTAGAGGAGTCCATAGTACAGGAAGAAAAGAAGAAGCTGACCCCTGAAGGA
AACAAAGGAGTAACTGGCTCAGGATTCCCCTTTGATTTTGGACGTAACCCCTACAAAGGAAAGCGCCCTTTGAAAGACATAATTGGGTCGTACAAAAATCGTCAC
AGCAGTGGTGACCCTTCAAGTGAAGGCACATCAGGCAGTGGCAGCGTCAGCATCAGGAAGCCGGCCTCCGAAATGCAACTGCAGGTCCAGAGCCAGCAGGAAGAG
CTGGAACAGTTAAAGAAAGACCTGTCCAGTCAGAAGGAGCTTGTTCGACTGCTCCAGCAGACAGTCCGGTCATCCCAGTATGACAAGTATTTCACAAGCAGCCGG
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>TBC1D2B|23102|protein
MPGAGARAEEGGGGGEGAAQGAAAEPGAGPAREPARLCGYLQKLSGKGPLRGYRSRWFVFDARRCYLYYFKSPQDALPLGHLDIADACFSYQGPDEAAEPGTEPP
AHFQVHSAGAVTVLKAPNRQLMTYWLQELQQKRWEYCNSLDMVKWDSRTSPTPGDFPKGLVARDNTDLIYPHPNASAEKARNVLAVETVPGELVGEQAANQPAPG
HPNSINFYSLKQWGNELKNSMSSFRPGRGHNDSRRTVFYTNEEWELLDPTPKDLEESIVQEEKKKLTPEGNKGVTGSGFPFDFGRNPYKGKRPLKDIIGSYKNRH
SSGDPSSEGTSGSGSVSIRKPASEMQLQVQSQQEELEQLKKDLSSQKELVRLLQQTVRSSQYDKYFTSSRLCEGVPKDTLELLHQKDDQILGLTSQLERFSLEKE
SLQQEVRTLKSKVGELNEQLGMLMETIQAKDEVIIKLSEGEGNGPPPTVAPSSPSVVPVARDQLELDRLKDNLQGYKTQNKFLNKEILELSALRRNAERRERDLM
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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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top