AutismKB 2.0

Annotation Details for POMP


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Basic Information Top
Gene Symbol:POMP ( C13orf12,PNAS-110,UMP1 )
Gene Full Name: proteasome maturation protein
Band: 13q12.3
Quick LinksEntrez ID:51371; OMIM: 613386; Uniprot ID:POMP_HUMAN; ENSEMBL ID: ENSG00000132963; HGNC ID: 20330
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005737IBA-cytoplasm-
GO:0005783IEA-endoplasmic reticulum-
GO:0005829IEA-cytosol-
GO:0016607IDA-nuclear speck-
GO:0031090IEA-organelle membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding14733938
GO ID Evidence Qualifier GO_term References
GO:0043248IMP-proteasome assembly17948026
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1913787
  • Data Attributes: 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