AutismKB 2.0

Evidence Details for KBTBD11


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Basic Information Top
Gene Symbol:KBTBD11 ( KIAA0711,KLHDC7C )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 11
Band: 8p23.3
Quick LinksEntrez ID:9920; OMIM: NA; Uniprot ID:KBTBB_HUMAN; ENSEMBL ID: ENSG00000176595; HGNC ID: 29104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KBTBD11|9920|nucleotide
ATGGAGCACGCGGTGGCCCCCTGCGTCCTCTACCCAGGGACTGAGCCCGGGGCTGCCGGGGAGAGCGAGAGCGAGGGCGCCGCGTCCCCGGCGCAGACACCCTGC
AGTCTCGGCGCGTCCCTGTGCTTCAGCTCCGGGGAAGAGTCCCCGCCGCAGTCCCTCGCCTCAGCGGCGGAAGGCGCGGCCACCTCCCCGCCCTCCAGCGGTGGC
CCGCGGGTGGTGGAGCGGCAGTGGGAGGCCGGCAGCGCGGGCGCCGCGTCCCCGGAGGAGCTCGCGTCCCCTGAGGAGCGCGCGTGCCCGGAAGAGCCCGCGGCG
CCGTCCCCCGAACCGCGCGTTTGGCTTGAGGACCCCGCGTCCCCCGAGGAGCCCGGGGAGCCCGCGCCCGTACCCCCGGGGTTCGGGGCGGTGTACGGGGAGCCG
GACCTGGTGCTGGAGGTGTCGGGGCGCCGGCTGCGCGCGCACAAGGCGGTGCTGGCGGCGCGCAGCGACTACTTCCGCGCGCGCGCGTCGCGGGACGTGCTGCGG
GTGCAGGGAGTGAGCCTGACGGCGCTGCGGCTGCTCCTCGCCGACGCCTACAGCGGGCGCATGGCGGGCGTGCGGCCCGACAACGTGGCCGAGGTGGTGGCCGGC
GCGCGCCGCCTGCAGCTGCCCGGCGCCGCGCAGCGCGCCACCGACGCCGTGGGGCCGCAGCTGAGCCTGGCCAACTGCTACGAGGTCCTGAGCGCGGCCAAGCGG
CAGCGGCTGAACGAGCTGCGCGACGCCGCCTACTGCTTCATGAGCGACCACTATCTGGAGGTGCTGCGCGAGCCCGCCGTGTTCGGCCGCCTGTCGGGCGCAGAG
CGGGACCTGCTGCTGCGCCGCCGCCTGCGCGCCGGCCGCGCCCACCTCTTGGCCGCGGCGCTCGGGCCGGCGGGGGAGCGCGCGGGCAGCCGGCCTCAGAGCCCC
TCGGGGGACGCGGACGCGCGCGGGGACGCGGCCGTCTACTGCTTCCACGCGGCGGCCGGAGAGTGGCGCGAGCTGACGCGGCTGCCCGAGGGCGCGCCGGCGCGG
GGCTGCGGCCTGTGCGTCCTCTACAACTACCTCTTCGTGGCGGGCGGCGTGGCGCCCGCGGGCCCCGACGGCCGCGCGCGCCCGTCCGACCAGGTCTTCTGCTAC
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>KBTBD11|9920|protein
MEHAVAPCVLYPGTEPGAAGESESEGAASPAQTPCSLGASLCFSSGEESPPQSLASAAEGAATSPPSSGGPRVVERQWEAGSAGAASPEELASPEERACPEEPAA
PSPEPRVWLEDPASPEEPGEPAPVPPGFGAVYGEPDLVLEVSGRRLRAHKAVLAARSDYFRARASRDVLRVQGVSLTALRLLLADAYSGRMAGVRPDNVAEVVAG
ARRLQLPGAAQRATDAVGPQLSLANCYEVLSAAKRQRLNELRDAAYCFMSDHYLEVLREPAVFGRLSGAERDLLLRRRLRAGRAHLLAAALGPAGERAGSRPQSP
SGDADARGDAAVYCFHAAAGEWRELTRLPEGAPARGCGLCVLYNYLFVAGGVAPAGPDGRARPSDQVFCYNPATDSWSAVRPLRQARSQLRLLALDGHLYAVGGE
CLLSVERYDPRADRWAPVAPLPRGAFAVAHEATTCHGEIYVSGGSLFYRLLKYDPRRDEWQECPCSSSRERSADMVALDGFIYRFDLSGSRGEAQAAGPSGVSVS
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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 (0) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top