AutismKB 2.0

Annotation Detail for SNRNP200


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Basic Information Top
Gene Symbol:SNRNP200 ( ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD )
Gene Full Name: small nuclear ribonucleoprotein 200kDa (U5)
Band: 2q11.2
Quick LinksEntrez ID:23020; OMIM: 601664; Uniprot ID:U520_HUMAN; ENSEMBL ID: ENSG00000144028; HGNC ID: 30859
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Retinitis pigmentosa 33
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D012174 Retinitis Pigmentosa marker/mechanism
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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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