AutismKB 2.0

Evidence Details for DLG1


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Basic Information Top
Gene Symbol:DLG1 ( DKFZp761P0818,DKFZp781B0426,DLGH1,SAP-97,SAP97,dJ1061C18.1.1,hdlg )
Gene Full Name: discs, large homolog 1 (Drosophila)
Band: 3q29
Quick LinksEntrez ID:1739; OMIM: 601014; Uniprot ID:DLG1_HUMAN; ENSEMBL ID: ENSG00000075711; HGNC ID: 2900
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLG1|1739|nucleotide
ATGCCGGTCCGGAAGCAAGATACCCAGAGAGCATTGCACCTTTTGGAGGAATATCGTTCAAAACTAAGCCAAACTGAAGACAGACAGCTCAGAAGTTCCATAGAA
CGGGTTATTAACATATTTCAGAGCAACCTCTTTCAGGCTTTAATAGATATTCAAGAATTTTATGAAGTGACCTTACTGGATAATCCAAAATGTATAGATCGTTCA
AAGCCGTCTGAACCAATTCAACCTGTGAATACTTGGGAGATTTCCAGCCTTCCAAGCTCTACTGTGACTTCAGAGACACTGCCAAGCAGCCTTAGCCCTAGTGTA
GAGAAATACAGGTATCAGGATGAAGATACACCTCCTCAAGAGCATATTTCCCCACAAATCACAAATGAAGTGATAGGTCCAGAATTGGTTCATGTCTCAGAGAAG
AACTTATCAGAGATTGAGAATGTCCATGGATTTGTTTCTCATTCTCATATTTCACCAATAAAGCCAACAGAAGCTGTTCTTCCCTCTCCTCCCACTGTCCCTGTG
ATCCCTGTCCTGCCAGTCCCTGCTGAGAATACTGTCATCCTACCCACCATACCACAGGCAAATCCTCCCCCAGTACTGGTCAACACAGATAGCTTGGAAACACCA
ACTTACGTTAATGGCACAGATGCAGATTATGAATATGAAGAAATCACACTTGAAAGGGGAAATTCAGGGCTTGGTTTCAGCATTGCAGGAGGTACGGACAACCCA
CACATTGGAGATGACTCAAGTATTTTCATTACCAAAATTATCACAGGGGGAGCAGCCGCCCAAGATGGAAGATTGCGGGTCAATGACTGTATATTACGAGTAAAT
GAAGTAGATGTTCGTGATGTAACACATAGCAAAGCAGTTGAAGCGTTGAAAGAAGCAGGGTCTATTGTACGCTTGTATGTAAAAAGAAGGAAACCAGTGTCAGAA
AAAATAATGGAAATAAAGCTCATTAAAGGTCCTAAAGGTCTTGGGTTTAGCATTGCTGGAGGTGTTGGAAATCAGCATATTCCTGGGGATAATAGCATCTATGTA
ACCAAAATAATTGAAGGAGGTGCAGCACATAAGGATGGCAAACTTCAGATTGGAGATAAACTTTTAGCAGTGAATAACGTATGTTTAGAAGAAGTTACTCATGAA
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>DLG1|1739|protein
MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTLLDNPKCIDRSKPSEPIQPVNTWEISSLPSSTVTSETLPSSLSPSV
EKYRYQDEDTPPQEHISPQITNEVIGPELVHVSEKNLSEIENVHGFVSHSHISPIKPTEAVLPSPPTVPVIPVLPVPAENTVILPTIPQANPPPVLVNTDSLETP
TYVNGTDADYEYEEITLERGNSGLGFSIAGGTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAGSIVRLYVKRRKPVSE
KIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAHKDGKLQIGDKLLAVNNVCLEEVTHEEAVTALKNTSDFVYLKVAKPTSMYMNDGYAPPDIT
NSSSQPVDNHVSPSSFLGQTPASPARYSPVSKAVLGDDEITREPRKVVLHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASH
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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 (0) 0 (1) 0 (0) 0 (0) 4 (5)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Cox DM, 2015 - FISH--autism - - - - 1 - 1
Linkage Studies Top