Evidence Details for KIAA0100
Basic Information Top
| Gene Symbol: | KIAA0100 ( BCOX,BCOX1,CT101,DKFZp686M0843,MGC111488,MGC134981 ) |
|---|---|
| Gene Full Name: | KIAA0100 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:9703; OMIM: 610664; Uniprot ID:K0100_HUMAN; ENSEMBL ID: ENSG00000007202; HGNC ID: 28960 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KIAA0100|9703|nucleotide
ATGCCTCTGTTCTTCTCCGCGCTGTTGGTCTTGCTGCTAGTTGCGCTTAGCGCCCTCTTTCTAGGCCGGTGGCTTGTGGTCCGGTTGGCCACCAAGTGGTGTCAG
CGGAAGCTGCAGGCGGAGCTAAAGATTGGCTCCTTCCGCTTTTTTTGGATCCAGAATGTCAGTCTTAAGTTTCAGCAACACCAGCAAACAGTGGAAATTGATAAC
CTGTGGATTTCCAGCAAACTCCTTAGCCATGATCTTCCACACTATGTGGCATTGTGCTTTGGAGAAGTGCGTATCAGAACGGACCTACAGAAAGTTTCTGACCTG
TCTGCCCCATTCTCCCAGAGCGCTGGGGTGGATCAAAAGGAACTGTCCTTCAGCCCATCCTTATTGAAGATCTTCTGCCAACTATTCTCCATTCATGTAGATGCT
ATAAACATCATGGTTCTCAAGGTGGATACCTCTGAGTCCTTATGGCATATTCAGATCAGTAGAAGCAGATTTCTTTTGGATAGTGATGGGAAAAGGCTAATCTGT
GAGGTGAGCTTATGTAAGATCAACAGCAAAGTTCTAAAGAGTGGTCAGCTGGAGGACACCTGCCTAGTGGAGCTTTCACTGGCCCTGGACCTGTGTCTAAAGGTG
GGCATTAGCAGTCGGCATCTCACTGCTATCACTGTGGATGTGTGGACACTCCATGCTGAACTGCATGAGGGCCTCTTCCAGAGCCAACTGCTGTGCCAGGGCCCA
AGCCTAGCATCTAAGCCTGTTCCCTGTTCAGAGGTGACAGAAAACTTAGTTGAGCCAACTCTGCCTGGCCTATTCCTTCTCCAGCAGCTGCCAGACCAGGTCAAG
GTTAAGATGGAGAACACAAGCGTGGTATTGTCCATGAATAGTCAAAAGAGGCACCTGACTTGGACTCTGAAGCTGCTGCAGTTCCTGTACCACCGTGATGAGGAT
CAGCTGCCCCTTCGAAGCTTCACAGCAAACTCTGATATGGCACAGATGAGCACTGAACTGCTGCTGGAAGATGGGTTGTTGTTGTCCCAGAGTCGCCAACGCATT
GTCTGCCTCAACTCCCTCAAGGCTAGTGTGCAGGTGACCACCATTGACCTCTCAGCCTCCCTAGTTCTGAACACTTGCATCATTCACTACCGGCACCAGGAATTC
Show »
ATGCCTCTGTTCTTCTCCGCGCTGTTGGTCTTGCTGCTAGTTGCGCTTAGCGCCCTCTTTCTAGGCCGGTGGCTTGTGGTCCGGTTGGCCACCAAGTGGTGTCAG
CGGAAGCTGCAGGCGGAGCTAAAGATTGGCTCCTTCCGCTTTTTTTGGATCCAGAATGTCAGTCTTAAGTTTCAGCAACACCAGCAAACAGTGGAAATTGATAAC
CTGTGGATTTCCAGCAAACTCCTTAGCCATGATCTTCCACACTATGTGGCATTGTGCTTTGGAGAAGTGCGTATCAGAACGGACCTACAGAAAGTTTCTGACCTG
TCTGCCCCATTCTCCCAGAGCGCTGGGGTGGATCAAAAGGAACTGTCCTTCAGCCCATCCTTATTGAAGATCTTCTGCCAACTATTCTCCATTCATGTAGATGCT
ATAAACATCATGGTTCTCAAGGTGGATACCTCTGAGTCCTTATGGCATATTCAGATCAGTAGAAGCAGATTTCTTTTGGATAGTGATGGGAAAAGGCTAATCTGT
GAGGTGAGCTTATGTAAGATCAACAGCAAAGTTCTAAAGAGTGGTCAGCTGGAGGACACCTGCCTAGTGGAGCTTTCACTGGCCCTGGACCTGTGTCTAAAGGTG
GGCATTAGCAGTCGGCATCTCACTGCTATCACTGTGGATGTGTGGACACTCCATGCTGAACTGCATGAGGGCCTCTTCCAGAGCCAACTGCTGTGCCAGGGCCCA
AGCCTAGCATCTAAGCCTGTTCCCTGTTCAGAGGTGACAGAAAACTTAGTTGAGCCAACTCTGCCTGGCCTATTCCTTCTCCAGCAGCTGCCAGACCAGGTCAAG
GTTAAGATGGAGAACACAAGCGTGGTATTGTCCATGAATAGTCAAAAGAGGCACCTGACTTGGACTCTGAAGCTGCTGCAGTTCCTGTACCACCGTGATGAGGAT
CAGCTGCCCCTTCGAAGCTTCACAGCAAACTCTGATATGGCACAGATGAGCACTGAACTGCTGCTGGAAGATGGGTTGTTGTTGTCCCAGAGTCGCCAACGCATT
GTCTGCCTCAACTCCCTCAAGGCTAGTGTGCAGGTGACCACCATTGACCTCTCAGCCTCCCTAGTTCTGAACACTTGCATCATTCACTACCGGCACCAGGAATTC
Show »
>KIAA0100|9703|protein
MPLFFSALLVLLLVALSALFLGRWLVVRLATKWCQRKLQAELKIGSFRFFWIQNVSLKFQQHQQTVEIDNLWISSKLLSHDLPHYVALCFGEVRIRTDLQKVSDL
SAPFSQSAGVDQKELSFSPSLLKIFCQLFSIHVDAINIMVLKVDTSESLWHIQISRSRFLLDSDGKRLICEVSLCKINSKVLKSGQLEDTCLVELSLALDLCLKV
GISSRHLTAITVDVWTLHAELHEGLFQSQLLCQGPSLASKPVPCSEVTENLVEPTLPGLFLLQQLPDQVKVKMENTSVVLSMNSQKRHLTWTLKLLQFLYHRDED
QLPLRSFTANSDMAQMSTELLLEDGLLLSQSRQRIVCLNSLKASVQVTTIDLSASLVLNTCIIHYRHQEFSHWLHLLALETQGSSSPVLKQRKKRTFPQILAPII
FSTSISNVNISIQLGDTPPFALGFNSISLDYQHLRPQSIHQRGVLTVDHLCWRVGSDSHIQRAPHPPNMHVWGEALVLDSFTLQGSYNQPLGLSSTQSDTLFLDC
Show »
MPLFFSALLVLLLVALSALFLGRWLVVRLATKWCQRKLQAELKIGSFRFFWIQNVSLKFQQHQQTVEIDNLWISSKLLSHDLPHYVALCFGEVRIRTDLQKVSDL
SAPFSQSAGVDQKELSFSPSLLKIFCQLFSIHVDAINIMVLKVDTSESLWHIQISRSRFLLDSDGKRLICEVSLCKINSKVLKSGQLEDTCLVELSLALDLCLKV
GISSRHLTAITVDVWTLHAELHEGLFQSQLLCQGPSLASKPVPCSEVTENLVEPTLPGLFLLQQLPDQVKVKMENTSVVLSMNSQKRHLTWTLKLLQFLYHRDED
QLPLRSFTANSDMAQMSTELLLEDGLLLSQSRQRIVCLNSLKASVQVTTIDLSASLVLNTCIIHYRHQEFSHWLHLLALETQGSSSPVLKQRKKRTFPQILAPII
FSTSISNVNISIQLGDTPPFALGFNSISLDYQHLRPQSIHQRGVLTVDHLCWRVGSDSHIQRAPHPPNMHVWGEALVLDSFTLQGSYNQPLGLSSTQSDTLFLDC
Show »
Evidence summary TopClick 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) | 0 (0) | 2 (6) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 4 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen |  |  | autism | 158 | - | 158 | - | 333 | - | - |
| Yonan, 2003 | USA | microsatellite-based genomic screen | | | PDD | 345 | - | 345 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | | | ASD | 314 | - | 314 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
| Sutcliffe, 2005 | USA, AGRE | microsatellite-based genomic screen | | | ASD | 341 | - | 341 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.