AutismKB 2.0

Annotation Details for RPUSD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RPUSD1 ( C16orf40,MGC19600,RLUCL )
Gene Full Name: RNA pseudouridylate synthase domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:113000; OMIM: NA; Uniprot ID:RUSD1_HUMAN; ENSEMBL ID: ENSG00000007376; HGNC ID: 14173
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0003723IEA-RNA binding-
GO:0009982IEA-pseudouridine synthase activity-
GO ID Evidence Qualifier GO_term References
GO:0001522IEA-pseudouridine synthesis-
GO:0008150ND-biological_process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1919186
  • 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