AutismKB 2.0

Evidence Details for KIAA0319


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Basic Information Top
Gene Symbol:KIAA0319 ( DLX2,DYLX2,DYX2,MGC176717 )
Gene Full Name: KIAA0319
Band: 6p22.3
Quick LinksEntrez ID:9856; OMIM: 609269; Uniprot ID:K0319_HUMAN; ENSEMBL ID: ENSG00000137261; HGNC ID: 21580
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0319|9856|nucleotide
ATGACTAGACTGGGCTGGCCGAGCCCATGTTGTGCCCGTAAGCAGTGCAGCGAGGGGAGGACATATTCCAATGCAGTCATTTCACCTAACTTGGAAACCACCAGA
ATCATGCGGGTGTCTCACACCTTCCCTGTCGTAGACTGCACGGCCGCTTGCTGTGACCTGTCCAGCTGTGACCTGGCCTGGTGGTTCGAGGGCCGCTGCTACCTG
GTGAGCTGCCCCCACAAAGAGAACTGTGAGCCCAAGAAGATGGGCCCCATCAGGTCTTATCTCACTTTTGTGCTCCGGCCTGTTCAGAGGCCTGCACAGCTGCTG
GACTATGGGGACATGATGCTGAACAGGGGCTCCCCCTCGGGGATCTGGGGGGACTCACCTGAGGATATCAGAAAGGACTTGACCTTTCTAGGCAAAGATTGGGGC
CTAGAGGAGATGTCTGAGTACTCAGATGACTACCGGGAGCTGGAGAAGGACCTCTTGCAACCCAGTGGCAAGCAGGAGCCCAGAGGGAGTGCCGAGTACACGGAC
TGGGGCCTACTGCCGGGCAGCGAGGGGGCCTTCAACTCCTCTGTTGGAGACAGTCCTGCGGTGCCAGCGGAGACGCAGCAGGACCCTGAGCTCCATTACCTGAAT
GAGTCGGCTTCAACCCCTGCCCCAAAACTCCCTGAGAGAAGTGTGTTGCTTCCCTTGCCGACTACTCCATCTTCAGGAGAGGTGTTGGAGAAAGAAAAGGCTTCT
CAGCTCCAGGAACAATCCAGCAACAGCTCTGGAAAAGAGGTTCTAATGCCTTCCCATAGTCTTCCTCCGGCAAGCCTGGAGCTCAGCTCAGTCACCGTGGAGAAA
AGCCCAGTGCTCACAGTCACCCCGGGGAGTACAGAGCACAGCATCCCAACACCTCCCACTAGCGCAGCCCCCTCTGAGTCCACCCCATCTGAGCTACCCATATCT
CCTACCACTGCTCCCAGGACAGTGAAAGAACTTACGGTATCGGCTGGAGATAACCTAATTATAACTTTACCCGACAATGAAGTTGAACTGAAGGCCTTTGTTGCG
CCAGCGCCACCTGTAGAAACAACCTACAACTATGAATGGAATTTAATAAGCCACCCCACAGACTACCAAGGTGAAATAAAACAAGGACACAAGCAAACTCTTAAC
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>KIAA0319|9856|protein
MTRLGWPSPCCARKQCSEGRTYSNAVISPNLETTRIMRVSHTFPVVDCTAACCDLSSCDLAWWFEGRCYLVSCPHKENCEPKKMGPIRSYLTFVLRPVQRPAQLL
DYGDMMLNRGSPSGIWGDSPEDIRKDLTFLGKDWGLEEMSEYSDDYRELEKDLLQPSGKQEPRGSAEYTDWGLLPGSEGAFNSSVGDSPAVPAETQQDPELHYLN
ESASTPAPKLPERSVLLPLPTTPSSGEVLEKEKASQLQEQSSNSSGKEVLMPSHSLPPASLELSSVTVEKSPVLTVTPGSTEHSIPTPPTSAAPSESTPSELPIS
PTTAPRTVKELTVSAGDNLIITLPDNEVELKAFVAPAPPVETTYNYEWNLISHPTDYQGEIKQGHKQTLNLSQLSVGLYVFKVTVSSENAFGEGFVNVTVKPARR
VNLPPVAVVSPQLQELTLPLTSALIDGSQSTDDTEIVSYHWEEINGPFIEEKTSVDSPVLRLSNLDPGNYSFRLTVTDSDGATNSTTAALIVNNAVDYPPVANAG
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top