AutismKB 2.0

Evidence Details for LRG1


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Basic Information Top
Gene Symbol:LRG1 ( HMFT1766,LRG )
Gene Full Name: leucine-rich alpha-2-glycoprotein 1
Band: 19p13.3
Quick LinksEntrez ID:116844; OMIM: 611289; Uniprot ID:A2GL_HUMAN; ENSEMBL ID: ENSG00000171236; HGNC ID: 29480
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRG1|116844|nucleotide
ATGTCCTCTTGGAGCAGACAGCGACCAAAAAGCCCAGGGGGCATTCAACCCCATGTTTCTAGAACTCTGTTCCTGCTGCTGCTGTTGGCAGCCTCAGCCTGGGGG
GTCACCCTGAGCCCCAAAGACTGCCAGGTGTTCCGCTCAGACCATGGCAGCTCCATCTCCTGTCAACCACCTGCCGAAATCCCCGGCTACCTGCCAGCCGACACC
GTGCACCTGGCCGTGGAATTCTTCAACCTGACCCACCTGCCAGCCAACCTCCTCCAGGGCGCCTCTAAGCTCCAAGAATTGCACCTCTCCAGCAATGGGCTGGAA
AGCCTCTCGCCCGAATTCCTGCGGCCAGTGCCGCAGCTGAGGGTGCTGGATCTAACCCGAAACGCCCTGACCGGGCTGCCCCCGGGCCTCTTCCAGGCCTCAGCC
ACCCTGGACACCCTGGTATTGAAAGAAAACCAGCTGGAGGTCCTGGAGGTCTCGTGGCTACACGGCCTGAAAGCTCTGGGGCATCTGGACCTGTCTGGGAACCGC
CTCCGGAAACTGCCCCCCGGGCTGCTGGCCAACTTCACCCTCCTGCGCACCCTTGACCTTGGGGAGAACCAGTTGGAGACCTTGCCACCTGACCTCCTGAGGGGT
CCGCTGCAATTAGAACGGCTACATCTAGAAGGCAACAAATTGCAAGTACTGGGAAAAGATCTCCTCTTGCCGCAGCCGGACCTGCGCTACCTCTTCCTGAACGGC
AACAAGCTGGCCAGGGTGGCAGCCGGTGCCTTCCAGGGCCTGCGGCAGCTGGACATGCTGGACCTCTCCAATAACTCACTGGCCAGCGTGCCCGAGGGGCTCTGG
GCATCCCTAGGGCAGCCAAACTGGGACATGCGGGATGGCTTCGACATCTCCGGCAACCCCTGGATCTGTGACCAGAACCTGAGCGACCTCTATCGTTGGCTTCAG
GCCCAAAAAGACAAGATGTTTTCCCAGAATGACACGCGCTGTGCTGGGCCTGAAGCCGTGAAGGGCCAGACGCTCCTGGCAGTGGCCAAGTCCCAGTGA

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>LRG1|116844|protein
MSSWSRQRPKSPGGIQPHVSRTLFLLLLLAASAWGVTLSPKDCQVFRSDHGSSISCQPPAEIPGYLPADTVHLAVEFFNLTHLPANLLQGASKLQELHLSSNGLE
SLSPEFLRPVPQLRVLDLTRNALTGLPPGLFQASATLDTLVLKENQLEVLEVSWLHGLKALGHLDLSGNRLRKLPPGLLANFTLLRTLDLGENQLETLPPDLLRG
PLQLERLHLEGNKLQVLGKDLLLPQPDLRYLFLNGNKLARVAAGAFQGLRQLDMLDLSNNSLASVPEGLWASLGQPNWDMRDGFDISGNPWICDQNLSDLYRWLQ
AQKDKMFSQNDTRCAGPEAVKGQTLLAVAKSQ

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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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