AutismKB 2.0

Evidence Details for DAGLB


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Basic Information Top
Gene Symbol:DAGLB ( DAGLBETA,FLJ33624,FLJ33909,FLJ45532,KCCR13L )
Gene Full Name: diacylglycerol lipase, beta
Band: 7p22.1
Quick LinksEntrez ID:221955; OMIM: NA; Uniprot ID:DGLB_HUMAN; ENSEMBL ID: ENSG00000164535; HGNC ID: 28923
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DAGLB|221955|nucleotide
ATGCCGGGGATGGTACTCTTCGGCCGGCGCTGGGCCATCGCCAGCGACGACTTGGTCTTCCCAGGGTTCTTCGAGCTGGTCGTGCGAGTGCTGTGGTGGATTGGC
ATTCTGACGTTGTATCTCATGCACAGAGGAAAGCTGGACTGTGCTGGTGGAGCCTTGCTCAGCAGTTACTTGATCGTCCTCATGATTCTCCTGGCAGTTGTCATA
TGTACTGTGTCAGCCATCATGTGTGTCAGCATGAGAGGAACGATTTGTAACCCTGGACCGCGGAAGTCTATGTCTAAGCTGCTTTACATCCGCCTGGCGCTGTTT
TTTCCAGAGATGGTCTGGGCCTCTCTGGGGGCTGCCTGGGTGGCAGATGGTGTTCAGTGCGACAGGACAGTTGTAAACGGCATCATCGCAACCGTCGTGGTCAGG
ACACAGATCTGGTGCCCAGCGACATTGCGGCGGGCCTCGCCCTGCTTCATCAGCAACAGGACAATATCAGGAACAACCAAGAGCCTGCCCAGGTGGTCTGCCATG
CCCCAGGGAGCTCCCAGCTGCAGAAGCAGAACCACAGACTATGACTTGGTCGGAGGCGATCAGCTCAACTGTCACTTCGGCTCCATCCTGCACACCACAGGGCTG
CAGTACAGGGACTTCATCCACGTCAGCTTCCATGACAAGGTTTACGAGCTGCCGTTTTTAGTGGCTCTGGATCACAGGAAAGAGTCTGTTGTGGTCGCTGTGAGG
GGGACCATGTCTCTGCAGGATGTCCTTACGGACCTGTCAGCGGAGAGTGAGGTGCTGGACGTGGAGTGTGAGGTGCAGGACCGCCTGGCACACAAGGGTATTTCT
CAAGCTGCCAGATACGTTTACCAACGACTCATCAACGACGGGATTTTGAGCCAAGCCTTCAGCATTGCTCCTGAGTACCGGCTGGTCATAGTGGGCCACAGCCTC
GGGGGCGGGGCGGCCGCCCTGCTGGCCACCATGCTCAGAGCCGCCTACCCGCAGGTCAGGTGCTACGCCTTCTCCCCACCCCGGGGGCTGTGGAGCAAAGCTCTG
CAGGAATATTCTCAGAGCTTCATCGTGTCACTCGTCCTGGGGAAGGATGTGATTCCCAGGCTCAGTGTGACCAACTTGGAAGATCTGAAGAGAAGAATCTTGCGA
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>DAGLB|221955|protein
MPGMVLFGRRWAIASDDLVFPGFFELVVRVLWWIGILTLYLMHRGKLDCAGGALLSSYLIVLMILLAVVICTVSAIMCVSMRGTICNPGPRKSMSKLLYIRLALF
FPEMVWASLGAAWVADGVQCDRTVVNGIIATVVVRTQIWCPATLRRASPCFISNRTISGTTKSLPRWSAMPQGAPSCRSRTTDYDLVGGDQLNCHFGSILHTTGL
QYRDFIHVSFHDKVYELPFLVALDHRKESVVVAVRGTMSLQDVLTDLSAESEVLDVECEVQDRLAHKGISQAARYVYQRLINDGILSQAFSIAPEYRLVIVGHSL
GGGAAALLATMLRAAYPQVRCYAFSPPRGLWSKALQEYSQSFIVSLVLGKDVIPRLSVTNLEDLKRRILRVVAHCNKPKYKILLHGLWYELFGGNPNNLPTELDG
GDQEVLTQPLLGEQSLLTRWSPAYSFSSDSPLDSSPKYPPLYPPGRIIHLQEEGASGRFGCCSAAHYSAKWSHEAEFSKILIGPKMLTDHMPDILMRALDSVVSD
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Bremer, 2011 - aCGHASD - - - - 223 - 223
Goitia V, 2015 Hispanic array CGH --ASD - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018