AutismKB 2.0

Evidence Details for DGKG


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Basic Information Top
Gene Symbol:DGKG ( DAGK3,DGK-GAMMA,MGC104993,MGC133330 )
Gene Full Name: diacylglycerol kinase, gamma 90kDa
Band: 3q27.2-q27.3
Quick LinksEntrez ID:1608; OMIM: 601854; Uniprot ID:DGKG_HUMAN; ENSEMBL ID: ENSG00000058866; HGNC ID: 2853
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DGKG|1608|nucleotide
ATGGGTGAAGAACGGTGGGTCTCCCTCACTCCAGAAGAATTTGACCAACTCCAGAAATATTCAGAATATTCCTCCAAGAAGATAAAAGATGCCTTGACTGAATTT
AATGAGGGTGGGAGCCTCAAACAATATGACCCACATGAGCCGATTAGCTATGATGTCTTCAAGCTGTTCATGAGGGCGTACCTGGAGGTGGACCTTCCCCAGCCA
CTGAGCACTCACCTCTTCCTGGCCTTCAGCCAGAAGCCCAGACACGAGACCTCTGACCACCCGACGGAGGGAGCCAGCAACAGTGAGGCCAACAGCGCAGATACT
AATATACAGAATGCAGATAATGCCACCAAAGCAGACGAGGCCTGTGCCCCTGATACTGAATCAAATATGGCTGAGAAGCAAGCACCAGCTGAAGACCAAGTGGCT
GCGACCCCCCTGGAACCCCCCGTCCCTCGGTCTTCAAGCTCGGAATCCCCAGTGGTATACCTGAAGGATGTTGTGTGCTACCTGTCCCTGCTGGAGACGGGGAGG
CCTCAGGATAAGCTGGAGTTCATGTTTCGCCTCTATGATTCAGATGAGAACGGTCTCCTGGACCAAGCGGAGATGGATTGCATTGTCAACCAAATGCTGCATATT
GCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTATATTGAAGGAGATGCTGCAAGGGATGGACTACGACCGGGACGGCTTTGTGTCTCTACAGGAATGG
GTCCATGGAGGGATGACCACCATCCCATTGCTGGTCCTCCTGGGGATGGATGACTCTGGCTCCAAGGGGGATGGGCGGCACGCCTGGACCATGAAGCACTTCAAG
AAACCAACCTACTGCAACTTCTGCCATATCATGCTCATGGGCGTCCGCAAGCAAGGCCTGTGCTGCACTTACTGTAAATACACTGTCCACGAACGCTGTGTGTCC
AGAAACATTCCTGGTTGTGTCAAAACGTACTCAAAAGCCAAAAGGAGTGGTGAGGTGATGCAGCACGCATGGGTGGAAGGGAACTCCTCCGTCAAGTGTGACCGG
TGCCACAAAAGTATCAAGTGCTACCAGAGTGTCACCGCGCGGCACTGCGTGTGGTGCCGGATGACGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGT
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>DGKG|1608|protein
MGEERWVSLTPEEFDQLQKYSEYSSKKIKDALTEFNEGGSLKQYDPHEPISYDVFKLFMRAYLEVDLPQPLSTHLFLAFSQKPRHETSDHPTEGASNSEANSADT
NIQNADNATKADEACAPDTESNMAEKQAPAEDQVAATPLEPPVPRSSSSESPVVYLKDVVCYLSLLETGRPQDKLEFMFRLYDSDENGLLDQAEMDCIVNQMLHI
AQYLEWDPTELRPILKEMLQGMDYDRDGFVSLQEWVHGGMTTIPLLVLLGMDDSGSKGDGRHAWTMKHFKKPTYCNFCHIMLMGVRKQGLCCTYCKYTVHERCVS
RNIPGCVKTYSKAKRSGEVMQHAWVEGNSSVKCDRCHKSIKCYQSVTARHCVWCRMTFHRKCELSTLCDGGELRDHILLPTSICPITRDRPGEKSDGCVSAKGEL
VMQYKIIPTPGTHPLLVLVNPKSGGRQGERLNFFRDTPDFRVLACGGDGTVGWILDCIDKANFAKHPPVAVLPLGTGNDLARCLRWGGGYEGGSLTKILKDIEQS
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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 (1) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top