AutismKB 2.0

Evidence Details for TNRC6B


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Basic Information Top
Gene Symbol:TNRC6B ( KIAA1093 )
Gene Full Name: trinucleotide repeat containing 6B
Band: 22q13.1
Quick LinksEntrez ID:23112; OMIM: 610740; Uniprot ID:TNR6B_HUMAN; ENSEMBL ID: ENSG00000100354; HGNC ID: 29190
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TNRC6B|23112|nucleotide
ATGCAAACCAATGAGGGAGAAGTATCGGAAGAAAGCAGTTCCAAGGTGGAACAGGAGGATTTTGTAATGGAAGGGCATGGCAAGACTCCACCTCCTGGTGAAGAA
AGCAAACAAGAGAAGGAGCAAGAAAGGGAAGAACAGTTAATGGAAGACAAGAAAAGGAAGAAAGAGGATAAAAAGAAAAAAGAAGCCACTCAGAAGGTCACGGAA
CAAAAAACCAAAGTGCCCGAAGTGACGAAACCAAGTTTAAGCCAACCAACGGCCGCCAGCCCAATTGGCAGCTCTCCATCGCCACCAGTCAATGGTGGCAACAAT
GCCAAAAGGGTGGCAGTGCCGAACGGACAACCGCCAAGCGCCGCCCGCTACATGCCTCGGGAGGTGCCGCCGCGATTCCGTTGCCAGCAGGACCACAAAGTGTTA
CTAAAACGTGGGCAGCCCCCTCCACCGTCCTGCATGCTCCTTGGGGGTGGGGCAGGGCCTCCTCCCTGCACAGCACCTGGAGCAAACCCAAACAACGCACAAGTG
ACAGGAGCGCTGCTGCAGAGTGAGAGTGGGACTGCGCCAGTCTGGAGCAAAAGCACACCACCTGCTCCAGATAATGGTACTTCCGCTTGGGGTGAGCCAAATGAA
AGCAGTCCTGGGTGGGGCGAGATGGATGATACAGGAGCATCGACCACAGGCTGGGGGAACACGCCCGCCAACGCTCCCAATGCCATGAAGCCTAATTCCAAATCT
ATGCAAGACGGCTGGGGGGAGAGTGACGGGCCAGTCACAGGAGCTCGCCATCCCAGCTGGGAAGAGGAGGAGGATGGAGGAGTCTGGAACACCACTGGCTCTCAG
GGCAGTGCTTCCTCCCACAACTCAGCAAGCTGGGGACAAGGAGGAAAGAAACAAATGAAGTGCTCACTCAAAGGAGGAAACAATGATTCATGGATGAATCCTCTT
GCCAAACAGTTTTCAAATATGGGATTGCTGAGTCAGACTGAAGATAATCCAAGCAGCAAAATGGATTTGTCTGTAGGAAGCCTTTCAGATAAAAAATTTGATGTG
GACAAGCGAGCGATGAATCTCGGGGATTTTAATGATATCATGAGGAAGGATCGATCTGGGTTCCGTCCACCTAATTCCAAAGACATGGGAACCACAGATAGTGGG
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>TNRC6B|23112|protein
MQTNEGEVSEESSSKVEQEDFVMEGHGKTPPPGEESKQEKEQEREEQLMEDKKRKKEDKKKKEATQKVTEQKTKVPEVTKPSLSQPTAASPIGSSPSPPVNGGNN
AKRVAVPNGQPPSAARYMPREVPPRFRCQQDHKVLLKRGQPPPPSCMLLGGGAGPPPCTAPGANPNNAQVTGALLQSESGTAPVWSKSTPPAPDNGTSAWGEPNE
SSPGWGEMDDTGASTTGWGNTPANAPNAMKPNSKSMQDGWGESDGPVTGARHPSWEEEEDGGVWNTTGSQGSASSHNSASWGQGGKKQMKCSLKGGNNDSWMNPL
AKQFSNMGLLSQTEDNPSSKMDLSVGSLSDKKFDVDKRAMNLGDFNDIMRKDRSGFRPPNSKDMGTTDSGPYFEKGGSHGLFGNSTAQSRGLHTPVQPLNSSPSL
RAQVPPQFISPQVSASMLKQFPNSGLSPGLFNVGPQLSPQQIAMLSQLPQIPQFQLACQLLLQQQQQQQLLQNQRKISQAVRQQQEQQLARMVSALQQQQQQQQR
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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 (4) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (6)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top