AutismKB 2.0

Evidence Details for KIAA0100


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Basic Information Top
Gene Symbol:KIAA0100 ( BCOX,BCOX1,CT101,DKFZp686M0843,MGC111488,MGC134981 )
Gene Full Name: KIAA0100
Band: 17q11.2
Quick LinksEntrez 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
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>KIAA0100|9703|protein
MPLFFSALLVLLLVALSALFLGRWLVVRLATKWCQRKLQAELKIGSFRFFWIQNVSLKFQQHQQTVEIDNLWISSKLLSHDLPHYVALCFGEVRIRTDLQKVSDL
SAPFSQSAGVDQKELSFSPSLLKIFCQLFSIHVDAINIMVLKVDTSESLWHIQISRSRFLLDSDGKRLICEVSLCKINSKVLKSGQLEDTCLVELSLALDLCLKV
GISSRHLTAITVDVWTLHAELHEGLFQSQLLCQGPSLASKPVPCSEVTENLVEPTLPGLFLLQQLPDQVKVKMENTSVVLSMNSQKRHLTWTLKLLQFLYHRDED
QLPLRSFTANSDMAQMSTELLLEDGLLLSQSRQRIVCLNSLKASVQVTTIDLSASLVLNTCIIHYRHQEFSHWLHLLALETQGSSSPVLKQRKKRTFPQILAPII
FSTSISNVNISIQLGDTPPFALGFNSISLDYQHLRPQSIHQRGVLTVDHLCWRVGSDSHIQRAPHPPNMHVWGEALVLDSFTLQGSYNQPLGLSSTQSDTLFLDC
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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) 0 (0) 2 (6) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top