AutismKB 2.0

Evidence Details for DLG5


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Basic Information Top
Gene Symbol:DLG5 ( KIAA0583,LP-DLG,P-DLG5,PDLG )
Gene Full Name: discs, large homolog 5 (Drosophila)
Band: 10q22.3
Quick LinksEntrez ID:9231; OMIM: 604090; Uniprot ID:DLG5_HUMAN; ENSEMBL ID: ENSG00000151208; HGNC ID: 2904
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLG5|9231|nucleotide
ATGGAGCCCCAGCGCCGGGAGCTGCTCGCCCAGTGTCAGCAGAGCCTGGCCCAGGCCATGACGGAGGTGGAAGCCGTGCTCGGGCTGCTCGAGGCCGCGGGAGCG
CTCAGTCCCGGCGAGCGGCGGCAGCTGGACGAGGAGGCGGGAGGCGCCAAGGCGGAGCTGCTGCTCAAGCTGCTCTTGGCCAAGGAGCGGGACCACTTCCAGGAC
CTGCGGGCGGCGCTGGAGAAGACGCAGCCTCACCTGCTGCCCATTCTCTACCTGAACGGCGTCGTCGGGCCGCCGCAGCCCGCCGAAGGCGCGGGTTCTACCTAC
AGCGTCCTGTCCACCATGCCCTCAGACTCAGAAAGCAGCAGCTCCCTCAGCAGTGTGGGCACTACCGGGAAGGCGCCGTCCCCACCACCCCTCCTCACTGACCAG
CAAGTGAATGAGAAGGTGGAGAACCTCTCCATTCAGCTGCGGCTGATGACCCGGGAGAGAAACGAGCTCCGCAAGCGCCTGGCCTTTGCTACGCATGGCACGGCC
TTTGACAAGAGGCCCTACCACAGGCTGAATCCTGACTATGAGAGGCTGAAGATCCAGTGCGTGCGAGCCATGTCGGACCTGCAGAGCCTGCAGAACCAGCACACC
AACGCCTTGAAGAGGTGTGAGGAGGTGGCCAAGGAGACTGACTTCTACCACACACTCCACAGCCGGCTCCTGAGTGACCAGACTCGGCTGAAGGATGACGTGGAC
ATGCTGAGGCGGGAGAATGGGCAGCTGCTGCGGGAGCGAAACCTGCTGCAGCAGTCATGGGAGGACATGAAGCGGCTCCACGAGGAGGACCAGAAGGAGATCGGT
GACCTCCGTGCCCAGCAGCAGCAGGTGTTGAAGCACAACGGGTCATCCGAGATTCTCAACAAACTGTATGACACGGCCATGGACAAGTTGGAGGTGGTCAAGAAG
GACTATGACGCCCTTCGGAAGAGGTACAGTGAGAAAGTCGCCATCCACAATGCAGACCTGAGCCGCCTGGAGCAGCTGGGGGAGGAGAACCAGCGGTTGCTGAAG
CAGACAGAGATGCTGACCCAGCAGAGGGACACGGCCATCCAGCTGCAGCACCAGTGCGCCCTCTCCCTGAGGAGGTTTGAGGCGATCCACCATGAGCTGAACAAG
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>DLG5|9231|protein
MEPQRRELLAQCQQSLAQAMTEVEAVLGLLEAAGALSPGERRQLDEEAGGAKAELLLKLLLAKERDHFQDLRAALEKTQPHLLPILYLNGVVGPPQPAEGAGSTY
SVLSTMPSDSESSSSLSSVGTTGKAPSPPPLLTDQQVNEKVENLSIQLRLMTRERNELRKRLAFATHGTAFDKRPYHRLNPDYERLKIQCVRAMSDLQSLQNQHT
NALKRCEEVAKETDFYHTLHSRLLSDQTRLKDDVDMLRRENGQLLRERNLLQQSWEDMKRLHEEDQKEIGDLRAQQQQVLKHNGSSEILNKLYDTAMDKLEVVKK
DYDALRKRYSEKVAIHNADLSRLEQLGEENQRLLKQTEMLTQQRDTAIQLQHQCALSLRRFEAIHHELNKATAQNKDLQWEMELLQSELTELRTTQVKTAKESEK
YREERDAVYSEYKLIMSERDQVISELDKLQTEVELAESKLKSSTSEKKAANEEMEALRQIKDTVTMDAGRANKEVEILRKQCKALCQELKEALQEADVAKCRRDW
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top