AutismKB 2.0

Annotation Detail for PEAR1


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Basic Information Top
Gene Symbol:PEAR1 ( FLJ00193,JEDI,MEGF12 )
Gene Full Name: platelet endothelial aggregation receptor 1
Band: 1q23.1
Quick LinksEntrez ID:375033; OMIM: 610278; Uniprot ID:PEAR1_HUMAN; ENSEMBL ID: ENSG00000187800; HGNC ID: 33631
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
152N-linked (GlcNAc...) (Potential).
271N-linked (GlcNAc...) (Potential).
476N-linked (GlcNAc...) (Potential).
575N-linked (GlcNAc...) (Potential).
634N-linked (GlcNAc...) (Potential).
925Phosphotyrosine.
953Phosphoserine.
1029Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation 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