Evidence Details for KBTBD11


Gene Symbol: | KBTBD11 ( KIAA0711,KLHDC7C ) |
---|---|
Gene Full Name: | kelch repeat and BTB (POZ) domain containing 11 |
Band: | 8p23.3 |
Quick Links | Entrez ID:9920; OMIM: NA; Uniprot ID:KBTBB_HUMAN; ENSEMBL ID: ENSG00000176595; HGNC ID: 29104 |
Relate to Another Database: | SFARIGene; denovo-db |


>KBTBD11|9920|nucleotide
ATGGAGCACGCGGTGGCCCCCTGCGTCCTCTACCCAGGGACTGAGCCCGGGGCTGCCGGGGAGAGCGAGAGCGAGGGCGCCGCGTCCCCGGCGCAGACACCCTGC
AGTCTCGGCGCGTCCCTGTGCTTCAGCTCCGGGGAAGAGTCCCCGCCGCAGTCCCTCGCCTCAGCGGCGGAAGGCGCGGCCACCTCCCCGCCCTCCAGCGGTGGC
CCGCGGGTGGTGGAGCGGCAGTGGGAGGCCGGCAGCGCGGGCGCCGCGTCCCCGGAGGAGCTCGCGTCCCCTGAGGAGCGCGCGTGCCCGGAAGAGCCCGCGGCG
CCGTCCCCCGAACCGCGCGTTTGGCTTGAGGACCCCGCGTCCCCCGAGGAGCCCGGGGAGCCCGCGCCCGTACCCCCGGGGTTCGGGGCGGTGTACGGGGAGCCG
GACCTGGTGCTGGAGGTGTCGGGGCGCCGGCTGCGCGCGCACAAGGCGGTGCTGGCGGCGCGCAGCGACTACTTCCGCGCGCGCGCGTCGCGGGACGTGCTGCGG
GTGCAGGGAGTGAGCCTGACGGCGCTGCGGCTGCTCCTCGCCGACGCCTACAGCGGGCGCATGGCGGGCGTGCGGCCCGACAACGTGGCCGAGGTGGTGGCCGGC
GCGCGCCGCCTGCAGCTGCCCGGCGCCGCGCAGCGCGCCACCGACGCCGTGGGGCCGCAGCTGAGCCTGGCCAACTGCTACGAGGTCCTGAGCGCGGCCAAGCGG
CAGCGGCTGAACGAGCTGCGCGACGCCGCCTACTGCTTCATGAGCGACCACTATCTGGAGGTGCTGCGCGAGCCCGCCGTGTTCGGCCGCCTGTCGGGCGCAGAG
CGGGACCTGCTGCTGCGCCGCCGCCTGCGCGCCGGCCGCGCCCACCTCTTGGCCGCGGCGCTCGGGCCGGCGGGGGAGCGCGCGGGCAGCCGGCCTCAGAGCCCC
TCGGGGGACGCGGACGCGCGCGGGGACGCGGCCGTCTACTGCTTCCACGCGGCGGCCGGAGAGTGGCGCGAGCTGACGCGGCTGCCCGAGGGCGCGCCGGCGCGG
GGCTGCGGCCTGTGCGTCCTCTACAACTACCTCTTCGTGGCGGGCGGCGTGGCGCCCGCGGGCCCCGACGGCCGCGCGCGCCCGTCCGACCAGGTCTTCTGCTAC
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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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MEHAVAPCVLYPGTEPGAAGESESEGAASPAQTPCSLGASLCFSSGEESPPQSLASAAEGAATSPPSSGGPRVVERQWEAGSAGAASPEELASPEERACPEEPAA
PSPEPRVWLEDPASPEEPGEPAPVPPGFGAVYGEPDLVLEVSGRRLRAHKAVLAARSDYFRARASRDVLRVQGVSLTALRLLLADAYSGRMAGVRPDNVAEVVAG
ARRLQLPGAAQRATDAVGPQLSLANCYEVLSAAKRQRLNELRDAAYCFMSDHYLEVLREPAVFGRLSGAERDLLLRRRLRAGRAHLLAAALGPAGERAGSRPQSP
SGDADARGDAAVYCFHAAAGEWRELTRLPEGAPARGCGLCVLYNYLFVAGGVAPAGPDGRARPSDQVFCYNPATDSWSAVRPLRQARSQLRLLALDGHLYAVGGE
CLLSVERYDPRADRWAPVAPLPRGAFAVAHEATTCHGEIYVSGGSLFYRLLKYDPRRDEWQECPCSSSRERSADMVALDGFIYRFDLSGSRGEAQAAGPSGVSVS
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Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
Yu, 2002 | USA | STS mapping | ![]() | ![]() | PDD | 105 | - | 105 | - | - | 668 | 668 |
Papanikolaou, 2006 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |














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