AutismKB 2.0

Evidence Details for KIAA1967


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Basic Information Top
Gene Symbol:KIAA1967 ( DBC-1,DBC1,NET35,p30DBC )
Gene Full Name: KIAA1967
Band: 8p22
Quick LinksEntrez ID:57805; OMIM: 607359; Uniprot ID:K1967_HUMAN; ENSEMBL ID: ENSG00000158941; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1967|57805|nucleotide
ATGTCCCAGTTTAAGCGCCAGCGGATCAACCCGCTTCCAGGGGGACGCAACTTCTCAGGCACAGCTTCAACATCTCTTCTGGGCCCTCCTCCTGGTTTGCTCACT
CCTCCTGTGGCCACAGAACTGTCCCAGAATGCCAGGCACCTTCAGGGTGGGGAGAAACAGCGGGTCTTCACTGGTATTGTTACCAGCTTGCATGACTACTTTGGG
GTTGTGGATGAAGAGGTCTTTTTTCAGCTAAGTGTGGTGAAGGGCCGTCTGCCCCAGCTGGGTGAGAAGGTGCTGGTGAAGGCTGCATACAACCCAGGCCAGGCA
GTGCCCTGGAATGCTGTCAAGGTGCAAACGCTCTCCAACCAGCCCCTACTGAAGTCCCCAGCACCTCCTCTTCTGCATGTAGCAGCCCTGGGCCAGAAGCAAGGG
ATCCTGGGAGCTCAGCCTCAGTTGATCTTCCAGCCTCACCGGATTCCCCCACTCTTTCCTCAGAAGCCTCTGAGTCTCTTCCAAACATCCCACACACTTCACCTG
AGCCACCTGAACAGATTTCCTGCCCGGGGCCCTCATGGACGGTTGGATCAGGGCCGAAGTGATGACTATGACTCCAAGAAACGCAAACAGCGGGCTGGTGGAGAG
CCCTGGGGTGCTAAGAAGCCAAGGCATGACCTGCCTCCTTACCGGGTCCACCTCACTCCTTACACTGTGGACAGCCCCATCTGTGACTTCCTAGAACTCCAGCGC
CGTTACCGCAGCCTCCTGGTCCCCTCAGATTTTCTGTCCGTGCATCTGAGTTGGCTATCAGCCTTCCCCCTGAGCCAGCCCTTTTCCCTCCATCATCCAAGCCGG
ATCCAGGTCTCTTCTGAAAAGGAGGCAGCTCCAGACGCTGGTGCTGAGCCCATCACTGCAGACAGTGACCCCGCTTATAGTTCGAAGGTACTGCTGCTCTCTTCC
CCGGGGTTGGAGGAATTGTATCGTTGTTGCATGCTCTTTGTGGATGACATGGCTGAGCCAAGGGAGACGCCAGAGCATCCTCTGAAGCAGATTAAGTTTTTGCTG
GGCAGGAAAGAAGAGGAGGCAGTGCTGGTTGGGGGTGAATGGTCTCCTTCCCTGGATGGCCTCGACCCCCAGGCTGACCCGCAGGTGCTGGTGCGTACCGCCATC
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>KIAA1967|57805|protein
MSQFKRQRINPLPGGRNFSGTASTSLLGPPPGLLTPPVATELSQNARHLQGGEKQRVFTGIVTSLHDYFGVVDEEVFFQLSVVKGRLPQLGEKVLVKAAYNPGQA
VPWNAVKVQTLSNQPLLKSPAPPLLHVAALGQKQGILGAQPQLIFQPHRIPPLFPQKPLSLFQTSHTLHLSHLNRFPARGPHGRLDQGRSDDYDSKKRKQRAGGE
PWGAKKPRHDLPPYRVHLTPYTVDSPICDFLELQRRYRSLLVPSDFLSVHLSWLSAFPLSQPFSLHHPSRIQVSSEKEAAPDAGAEPITADSDPAYSSKVLLLSS
PGLEELYRCCMLFVDDMAEPRETPEHPLKQIKFLLGRKEEEAVLVGGEWSPSLDGLDPQADPQVLVRTAIRCAQAQTGIDLSGCTKWWRFAEFQYLQPGPPRRLQ
TVVVYLPDVWTIMPTLEEWEALCQQKAAEAAPPTQEAQGETEPTEQAPDALEQAADTSRRNAETPEATTQQETDTDLPEAPPPPLEPAVIARPGCVNLSLHGIVE
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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 (3) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (6)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top