AutismKB 2.0

Evidence Details for DGKB


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Basic Information Top
Gene Symbol:DGKB ( DAGK2,DGK,DGK-BETA,KIAA0718 )
Gene Full Name: diacylglycerol kinase, beta 90kDa
Band: 7p21.2
Quick LinksEntrez ID:1607; OMIM: 604070; Uniprot ID:DGKB_HUMAN; ENSEMBL ID: ENSG00000136267; HGNC ID: 2850
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DGKB|1607|nucleotide
ATGACAAACCAGGAAAAATGGGCCCACCTCAGCCCTTCGGAATTTTCCCAACTTCAGAAATATGCTGAGTATTCTACAAAGAAATTAAAGGATGTTCTTGAAGAA
TTCCATGGTAATGGTGTGCTTGCAAAGTATAATCCTGAAGGGAAACAAGACATTCTTAACCAAACAATAGATTTTGAAGGTTTCAAACTATTCATGAAGACATTC
CTGGAAGCCGAGCTTCCTGATGATTTCACTGCACACCTTTTCATGTCATTTAGCAACAAGTTTCCTCATTCTAGTCCAATGGTAAAAAGTAAGCCTGCTCTCCTA
TCAGGCGGTCTGAGAATGAATAAAGGTGCCATCACCCCTCCCCGGACTACTTCTCCTGCAAATACGTGTTCCCCAGAAGTAATCCATCTGAAGGACATTGTCTGT
TACCTGTCTCTGCTTGAAAGAGGAAGACCTGAGGATAAGCTTGAGTTTATGTTTCGCCTTTATGACACGGATGGGAATGGCTTCCTGGACAGCTCGGAGCTAGAA
AATATCATCAGTCAGATGATGCATGTTGCAGAATACCTTGAGTGGGATGTCACTGAACTTAATCCAATCCTCCATGAAATGATGGAAGAAATTGACTATGATCAT
GATGGAACCGTGTCTCTGGAGGAATGGATTCAAGGAGGAATGACAACGATTCCACTTCTTGTGCTCCTGGGCTTAGAAAATAACGTGAAGGATGATGGACAGCAC
GTGTGGCGACTGAAGCACTTTAACAAACCTGCCTATTGCAACCTTTGCCTGAACATGCTGATTGGCGTGGGGAAGCAGGGCCTCTGCTGTTCCTTCTGCAAGTAC
ACAGTCCATGAGCGCTGTGTGGCTCGAGCACCTCCCTCTTGCATCAAGACCTATGTGAAGTCCAAAAGGAACACTGATGTCATGCACCATTACTGGGTTGAAGGT
AACTGCCCAACCAAGTGTGATAAGTGCCACAAAACTGTTAAATGTTACCAGGGCCTGACAGGACTGCATTGTGTTTGGTGTCAGATCACACTGCATAATAAATGT
GCTTCTCATCTAAAACCTGAATGTGACTGTGGACCTTTGAAGGACCATATTTTACCACCCACAACAATCTGTCCAGTGGTACTGCAGACTCTGCCCACTTCAGGA
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>DGKB|1607|protein
MTNQEKWAHLSPSEFSQLQKYAEYSTKKLKDVLEEFHGNGVLAKYNPEGKQDILNQTIDFEGFKLFMKTFLEAELPDDFTAHLFMSFSNKFPHSSPMVKSKPALL
SGGLRMNKGAITPPRTTSPANTCSPEVIHLKDIVCYLSLLERGRPEDKLEFMFRLYDTDGNGFLDSSELENIISQMMHVAEYLEWDVTELNPILHEMMEEIDYDH
DGTVSLEEWIQGGMTTIPLLVLLGLENNVKDDGQHVWRLKHFNKPAYCNLCLNMLIGVGKQGLCCSFCKYTVHERCVARAPPSCIKTYVKSKRNTDVMHHYWVEG
NCPTKCDKCHKTVKCYQGLTGLHCVWCQITLHNKCASHLKPECDCGPLKDHILPPTTICPVVLQTLPTSGVSVPEERQSTVKKEKSGSQQPNKVIDKNKMQRANS
VTVDGQGLQVTPVPGTHPLLVFVNPKSGGKQGERIYRKFQYLLNPRQVYSLSGNGPMPGLNFFRDVPDFRVLACGGDGTVGWVLDCIEKANVGKHPPVAILPLGT
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top