AutismKB 2.0

Annotation Detail for RFT1


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Basic Information Top
Gene Symbol:RFT1 ( CDG1N,DKFZp667J092,FLJ25945 )
Gene Full Name: RFT1 homolog (S. cerevisiae)
Band: 3p21.1
Quick LinksEntrez ID:91869; OMIM: 611908; Uniprot ID:RFT1_HUMAN; ENSEMBL ID: ENSG00000163933; HGNC ID: 30220
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00510N-Glycan biosynthesis
Pathway IDPathway Name
Metabolism of proteins
No data
No data
Pathway IDPathway Name
500549Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00118Congenital disorders of glycosylation (CDG) type I
Genetic disorders
No data
No data
No data
Desease Name
Congenital disorder of glycosylation, type In
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
OMIM:612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In marker/mechanism
Pathway ID Pathway Name
REACT:17015 Metabolism of proteins
KEGG:00510 N-Glycan biosynthesis
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (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