AutismKB 2.0

Annotation Details for PCOLCE


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Basic Information Top
Gene Symbol:PCOLCE ( PCPE,PCPE1 )
Gene Full Name: procollagen C-endopeptidase enhancer
Band: 7q22.1
Quick LinksEntrez ID:5118; OMIM: 600270; Uniprot ID:PCOC1_HUMAN; ENSEMBL ID: ENSG00000106333; HGNC ID: 8738
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space20551380
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0070062IDA-extracellular exosome21362503
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding24117177
GO:0005518IDA-collagen binding12393877
GO:0008201IDA-heparin binding12393877
GO:0016504IDA-peptidase activator activity12393877
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0007275TAS-multicellular organism development7523404
GO:0010952IEA-positive regulation of peptidase activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:105099
  • Data Attributes: MGI curated and HomoloGene calculated
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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