AutismKB 2.0

Annotation Details for PRF1


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Basic Information Top
Gene Symbol:PRF1 ( FLH2,HPLH2,MGC65093,P1,PFN1,PFP )
Gene Full Name: perforin 1 (pore forming protein)
Band: 10q22.1
Quick LinksEntrez ID:5551; OMIM: 170280; Uniprot ID:PERF_HUMAN; ENSEMBL ID: ENSG00000180644; HGNC ID: 9360
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576IEA-extracellular region-
GO:0005829IDA-cytosol-
GO:0005886IEA-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0016021IDA-integral component of membrane20889983
GO:0031904IEA-endosome lumen-
GO:0044194IDA-cytolytic granule9756476
GO:0044194ISS-cytolytic granule-
GO ID Evidence Qualifier GO_term References
GO:0005509ISS-calcium ion binding-
GO:0005515IPI-protein binding11911826
GO:0022829IDA-wide pore channel activity20889983
GO ID Evidence Qualifier GO_term References
GO:0001771IDA-immunological synapse formation21438968
GO:0002357ISS-defense response to tumor cell-
GO:0002418ISS-immune response to tumor cell-
GO:0006915TAS-apoptotic process10779745
GO:0006968TAS-cellular defense response10779745
GO:0019835ISS-cytolysis-
GO:0051260IDA-protein homooligomerization20889983
GO:0051607ISS-defense response to virus-
GO:0051712IDA-positive regulation of killing of cells of other organism9756476
GO:0055085IEA-transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PRF1CALR1115429671507 Affinity Capture-Western; Reconstituted Complex
PRF1CALR1072629671507 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97551
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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