AutismKB 2.0

Annotation Details for FHIT


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Basic Information Top
Gene Symbol:FHIT ( AP3Aase,FRA3B )
Gene Full Name: fragile histidine triad gene
Band: 3p14.2
Quick LinksEntrez ID:2272; OMIM: 601153; Uniprot ID:FHIT_HUMAN; ENSEMBL ID: ENSG00000189283; HGNC ID: 3701
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005737IDA-cytoplasm15007172
GO:0005739IEA-mitochondrion-
GO:0005829IDA-cytosol15313915
GO:0005886IDA-plasma membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0000166IEA-nucleotide binding-
GO:0003824TAS-catalytic activity8598045
GO:0005515IPI-protein binding18319262
GO:0016787IDA-hydrolase activity8794732
GO:0031625IPI-ubiquitin protein ligase binding15313915
GO:0042802IPI-identical protein binding9261067
GO:0047710IDA-bis(5'-adenosyl)-triphosphatase activity8794732
GO ID Evidence Qualifier GO_term References
GO:0006163IDA-purine nucleotide metabolic process9323207
GO:0006351IEA-transcription, DNA-templated-
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0009117TAS-nucleotide metabolic process8794732
GO:0032435IMP-negative regulation of proteasomal ubiquitin-dependent protein catabolic process15313915
GO:0072332IMP-intrinsic apoptotic signaling pathway by p53 class mediator15313915
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UBE2IFHIT10856311085938 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
UBE2IFHIT11317711085938 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
FHITFHIT10856316189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1277947
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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