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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018