AutismKB 2.0

Variant Details for LILRA4


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Basic Information Top
Gene Symbol:LILRA4 ( CD85g,ILT7,MGC129597,MGC129598 )
Gene Full Name: leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4
Band: 19q13.42
Quick LinksEntrez ID:23547; OMIM: 607517; Uniprot ID:LIRA4_HUMAN; ENSEMBL ID: ENSG00000187095; HGNC ID: 15503
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 5 1 0 0 0 1 7
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000380 19 19q13.42 54408188 56708188 2300000 external link Zwaag, 2009
AutCNV0000381 19 19q13.42 54408188 56708188 2300000 external link Zwaag, 2009
AutCNV0004174 19 19q13.42 54724147 54847544 123397 gain external link Levy, 2011
AutCNV0003758 19 19q13.42 54753543 54845802 92259 gain external link Gai, 2011
AutCNV0003757 19 19q13.42 54736320 54847587 111267 gain external link Gai, 2011
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
19 54844975 G A Sanger sequencing De Rubeis S, 2014
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
AutLD0000142 19q13.42 19 D19S572/D19S418 - - 0.00167 Lauritsen, 2006




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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