AutismKB 2.0

Evidence Details for DLG4


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Basic Information Top
Gene Symbol:DLG4 ( FLJ97752,FLJ98574,PSD95,SAP-90,SAP90 )
Gene Full Name: discs, large homolog 4 (Drosophila)
Band: 17p13.1
Quick LinksEntrez ID:1742; OMIM: 602887; Uniprot ID:DLG4_HUMAN; ENSEMBL ID: ENSG00000132535; HGNC ID: 2903
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLG4|1742|nucleotide
ATGGACTGTCTCTGTATAGTGACAACCAAGAAATACCGCTACCAAGATGAAGACACGCCCCCTCTGGAGCACAGCCCGGCCCACCTCCCCAACCAGGCCAATTCT
CCCCCAGTGATTGTCAACACAGATACCCTAGAAGCCCCAGGATATGTGAACGGGACCGAGGGGGAGATGGAATACGAGGAAATCACATTGGAAAGGGGTAACTCA
GGTCTGGGCTTCAGCATCGCAGGTGGCACTGACAACCCACACATCGGTGACGACCCATCCATTTTCATCACCAAGATCATTCCTGGTGGGGCTGCGGCCCAGGAT
GGCCGCCTCAGGGTCAACGACAGCATCCTGTTTGTAAATGAAGTGGACGTGCGCGAGGTGACCCACTCAGCGGCGGTGGAAGCCCTCAAAGAGGCAGGCTCCATC
GTTCGCCTCTATGTCATGCGCCGGAAGCCCCCGGCTGAGAAGGTCATGGAGATCAAGCTCATCAAGGGGCCTAAAGGTCTTGGCTTCAGCATCGCAGGGGGCGTA
GGGAACCAGCACATCCCAGGAGATAATAGCATCTATGTAACAAAGATCATCGAAGGGGGTGCTGCCCACAAGGATGGGAGGTTGCAGATTGGAGACAAGATCCTG
GCGGTCAACAGTGTGGGGCTAGAGGACGTCATGCATGAAGATGCTGTGGCAGCCCTGAAGAACACGTATGATGTTGTCTACCTAAAGGTGGCCAAGCCCAGCAAT
GCCTACCTGAGTGACAGCTATGCTCCCCCAGACATCACAACCTCTTATTCCCAGCACCTGGACAATGAGATCAGTCACAGCAGCTACCTGGGCACCGACTACCCC
ACAGCCATGACCCCCACTTCCCCTCGGCGCTACTCTCCAGTGGCCAAGGACCTGCTCGGGGAGGAAGACATTCCCCGAGAACCGAGGCGAATTGTGATCCACCGG
GGCTCCACGGGCCTGGGCTTCAACATCGTGGGTGGCGAGGACGGTGAAGGCATCTTCATCTCCTTTATCCTGGCCGGGGGCCCTGCAGACCTCAGTGGGGAGCTG
CGGAAGGGGGACCAGATCCTGTCGGTCAACGGTGTGGACCTCCGAAATGCCAGCCATGAGCAGGCTGCCATTGCCCTGAAGAATGCGGGTCAGACGGTCACGATC
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>DLG4|1742|protein
MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYVNGTEGEMEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQD
GRLRVNDSILFVNEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKIL
AVNSVGLEDVMHEDAVAALKNTYDVVYLKVAKPSNAYLSDSYAPPDITTSYSQHLDNEISHSSYLGTDYPTAMTPTSPRRYSPVAKDLLGEEDIPREPRRIVIHR
GSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDQILSVNGVDLRNASHEQAAIALKNAGQTVTIIAQYKPEEYSRFEAKIHDLREQLMNSSLGSGTASL
RSNPKRGFYIRALFDYDKTKDCGFLSQALSFRFGDVLHVIDASDEEWWQARRVHSDSETDDIGFIPSKRRVERREWSRLKAKDWGSSSGSQGREDSVLSYETVTQ
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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 1 (1) 12 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top