AutismKB 2.0

Evidence Details for DAG1


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Basic Information Top
Gene Symbol:DAG1 ( 156DAG,A3a,AGRNR,DAG )
Gene Full Name: dystroglycan 1 (dystrophin-associated glycoprotein 1)
Band: 3p21.31
Quick LinksEntrez ID:1605; OMIM: 128239; Uniprot ID:DAG1_HUMAN; ENSEMBL ID: ENSG00000173402; HGNC ID: 2666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DAG1|1605|nucleotide
ATGAGGATGTCTGTGGGCCTCTCGCTGCTGCTGCCCCTCTGGGGGAGGACCTTTCTCCTCCTGCTCTCTGTGGTTATGGCTCAGTCCCACTGGCCCAGTGAACCC
TCAGAGGCTGTCAGGGACTGGGAAAACCAGCTTGAGGCATCCATGCACTCAGTGCTCTCAGACCTCCACGAGGCTGTTCCCACAGTGGTTGGCATTCCTGATGGC
ACGGCTGTCGTCGGGCGCTCATTTCGAGTGACCATTCCAACAGATTTGATTGCCTCCAGTGGAGATATCATCAAGGTATCAGCGGCAGGGAAGGAGGCTTTGCCA
TCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTCCCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCC
AACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGACCACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGT
GAGGTGGTATCATCTGCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACCAAGATGACCCCAAAGCAAAGGATTGACCTC
CTGCACAGGATGCGGAGCTTCTCAGAAGTAGAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCCTTCATGGCTGGCCCG
GGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGGAAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCT
GCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCCAATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCAT
GCTACACCCACACCTGTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCAACCCCCACATCTCCAGCCATTGCTCCTCCA
ACAGAGACCATGGCTCCTCCAGTCAGGGATCCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCAACCCTAGGCCCCATC
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>DAG1|1605|protein
MRMSVGLSLLLPLWGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEAVPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALP
SWLHWDSQSHTLEGLPLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSSACAADEPVTVLTVILDADLTKMTPKQRIDL
LHRMRSFSEVELHNMKLVPVVNNRLFDMSAFMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIANKKPPLPKRVRRQIH
ATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRDPVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPP
TTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRIRTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYD
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top