AutismKB 2.0

Annotation Detail for PIKFYVE


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Basic Information Top
Gene Symbol:PIKFYVE ( CFD,FAB1,FLJ37746,KIAA0981,MGC40423,PIP5K,PIP5K3 )
Gene Full Name: phosphoinositide kinase, FYVE finger containing
Band: 2q34
Quick LinksEntrez ID:200576; OMIM: 609414; Uniprot ID:FYV1_HUMAN; ENSEMBL ID: ENSG00000115020; HGNC ID: 23785
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-63523-phosphoinositide biosynthesis
Pathway IDPathway Name
hsa00562Inositol phosphate metabolism
hsa04145Phagosome
hsa04810Regulation of actin cytoskeleton
hsa04070Phosphatidylinositol signaling system
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
1934Cancer
No data
No data
Desease Name
Corneal fleck dystrophy
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
OMIM:121850 CORNEAL DYSTROPHY, FLECK marker/mechanism
Pathway ID Pathway Name
KEGG:00562 Inositol phosphate metabolism
KEGG:04145 Phagosome
KEGG:04070 Phosphatidylinositol signaling system
KEGG:04810 Regulation of actin cytoskeleton
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


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