AutismKB 2.0

Annotation Detail for LTBP1


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Basic Information Top
Gene Symbol:LTBP1 ( MGC163161 )
Gene Full Name: latent transforming growth factor beta binding protein 1
Band: 2p22.3
Quick LinksEntrez ID:4052; OMIM: 150390; Uniprot ID:LTBP1_HUMAN; ENSEMBL ID: ENSG00000049323; HGNC ID: 6714
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
347N-linked (GlcNAc...) (Potential).
378N-linked (GlcNAc...) (Potential).
424N-linked (GlcNAc...) (Potential).
620N-linked (GlcNAc...) (Potential).
974(3R)-3-hydroxyasparagine.
1137(3R)-3-hydroxyasparagine.
1176Cell attachment site (Potential).
1197N-linked (GlcNAc...) (Potential).
1250N-linked (GlcNAc...) (Potential).
1366N-linked (GlcNAc...).
1597Phosphoserine.
1600Phosphotyrosine.
1601Phosphothreonine.
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