AutismKB 2.0

Evidence Details for DGKH


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Basic Information Top
Gene Symbol:DGKH ( DGKeta,DKFZp761I1510 )
Gene Full Name: diacylglycerol kinase, eta
Band: 13q14.11
Quick LinksEntrez ID:160851; OMIM: 604071; Uniprot ID:DGKH_HUMAN; ENSEMBL ID: ENSG00000102780; HGNC ID: 2854
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DGKH|160851|nucleotide
ATGGCAGGGGCCGGAGGCCAGCACCACCCTCCGGGCGCCGCTGGAGGAGCGGCCGCCGGAGCCGGCGCCGCGGTCACCTCCGCCGCTGCCTCGGCGGGGCCGGGA
GAGGATTCGTCTGACAGCGAAGCGGAGCAAGAGGGACCCCAGAAACTGATCCGCAAAGTGTCTACCTCGGGGCAGATCCGGACCAAGACCAGTATTAAAGAGGGA
CAGCTATTGAAGCAAACCAGTTCTTTCCAAAGGTGGAAAAAGCGATACTTCAAACTTCGAGGCCGCACCCTTTACTATGCAAAGGACTCAAAGTCTCTGATATTT
GATGAAGTTGACCTCTCAGATGCTAGTGTAGCTGAAGCAAGCACGAAAAATGCTAACAACAGCTTCACGATCATCACTCCATTCAGAAGGCTAATGCTGTGTGCT
GAGAACAGAAAGGAGATGGAGGATTGGATCAGCTCACTGAAGTCTGTACAGACCAGAGAACCCTACGAGGTGGCCCAGTTTAATGTGGAACATTTCTCAGGGATG
CACAACTGGTACGCCTGCTCCCACGCCCGACCCACCTTCTGTAACGTGTGCAGAGAGAGTCTTTCTGGAGTCACCTCCCATGGCCTGTCCTGCGAAGTGTGTAAA
TTCAAGGCTCACAAAAGATGTGCAGTGAGAGCAACAAATAACTGTAAATGGACTACCCTGGCCTCCATCGGGAAGGACATTATAGAAGATGAAGATGGCGTCGCG
ATGCCTCACCAGTGGCTTGAGGGCAACCTGCCTGTAAGTGCCAAGTGTGCTGTCTGCGACAAAACATGTGGCAGTGTTCTCCGTCTACAGGATTGGAAATGCCTT
TGGTGTAAGACAATGGTACACACTGCCTGCAAAGATTTATACCATCCAATATGTCCACTTGGTCAATGTAAAGTATCTATCATACCTCCAATTGCACTAAACAGC
ACCGATTCCGATGGTTTCTGTAGAGCAACATTTTCGTTCTGTGTTAGTCCTCTATTGGTTTTTGTCAATTCTAAGAGTGGAGATAATCAGGGAGTAAAGTTCCTC
CGTCGCTTTAAACAGTTGCTAAATCCGGCTCAGGTGTTTGATTTAATGAATGGAGGTCCTCATTTAGGTTTAAGATTATTTCAGAAGTTTGACAATTTCCGGATT
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>DGKH|160851|protein
MAGAGGQHHPPGAAGGAAAGAGAAVTSAAASAGPGEDSSDSEAEQEGPQKLIRKVSTSGQIRTKTSIKEGQLLKQTSSFQRWKKRYFKLRGRTLYYAKDSKSLIF
DEVDLSDASVAEASTKNANNSFTIITPFRRLMLCAENRKEMEDWISSLKSVQTREPYEVAQFNVEHFSGMHNWYACSHARPTFCNVCRESLSGVTSHGLSCEVCK
FKAHKRCAVRATNNCKWTTLASIGKDIIEDEDGVAMPHQWLEGNLPVSAKCAVCDKTCGSVLRLQDWKCLWCKTMVHTACKDLYHPICPLGQCKVSIIPPIALNS
TDSDGFCRATFSFCVSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPHLGLRLFQKFDNFRILVCGGDGSVGWVLSEIDKLNLNKQCQLGVLPLGTG
NDLARVLGWGGSYDDDTQLPQILEKLERASTKMLDRWSIMTYELKLPPKASLLPGPPEASEEFYMTIYEDSVATHLTKILNSDEHAVVISSAKTLCETVKDFVAK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top