AutismKB 2.0

Annotation Details for CFHR1


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Basic Information Top
Gene Symbol:CFHR1 ( CFHL,CFHL1,CFHL1P,CFHR1P,FHR1,H36-1,H36-2,HFL1,HFL2,MGC104329 )
Gene Full Name: complement factor H-related 1
Band: 1q31.3
Quick LinksEntrez ID:3078; OMIM: 134371; Uniprot ID:FHR1_HUMAN; ENSEMBL ID: ENSG00000080910,ENSG00000244414; HGNC ID: 4888
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615TAS-extracellular space1711047
GO:0070062IDA-extracellular exosome23376485
GO:0072562IDA-blood microparticle22516433
No data
GO ID Evidence Qualifier GO_term References
GO:0006956TAS-complement activation1711047
GO:0030449TAS-regulation of complement activation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
LBPCFHR11101218663389 Affinity Capture-Western
LBPCFHR11093268663389 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2138169
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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


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