AutismKB 2.0

Annotation Details for RNF130


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Basic Information Top
Gene Symbol:RNF130 ( G1RZFP,GOLIATH,GP,MGC117241,MGC138647,MGC99542 )
Gene Full Name: ring finger protein 130
Band: 5q35.3
Quick LinksEntrez ID:55819; OMIM: NA; Uniprot ID:GOLI_HUMAN; ENSEMBL ID: ENSG00000113269; HGNC ID: 18280
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm16549277
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004842IDA-ubiquitin-protein transferase activity16549277
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006915IEA-apoptotic process-
GO:0012501ISS-programmed cell death13679316
GO:0016567IEA-protein ubiquitination-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1891717
  • 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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