FHIT
Homo sapiens
Gene Name: fragile histidine triad gene
Aliases: FRA3B, AP3Aase
Chromosome No: 3
Chromosome Band: 3p14.2
Genetic Category: Genetic Association-Rare single gene variant-Rare single gene variant/multigenic CNV
Aliases: FRA3B, AP3Aase
Chromosome No: 3
Chromosome Band: 3p14.2
Genetic Category: Genetic Association-Rare single gene variant-Rare single gene variant/multigenic CNV
Summary Statistics:
ASD Reports: 12
Recent Reports: 3
Annotated variants: 19
Associated CNVs: 7
Evidence score: 0
ASD Reports: 12
Recent Reports: 3
Annotated variants: 19
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Rare CNVs in the FHIT gene have been identified with autism in AGRE, NIMH and additional cohorts (Sebat et al., 2007).
Molecular Function
Encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD, SCZ
Positive Association
An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype.
Depression
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Highly Cited
The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers.
Recent Recommendation
Fhit, a putative tumor suppressor in humans, is a dinucleoside 5',5'-P1,P3-triphosphate hydrolase.
Recent Recommendation
FHIT-proteasome degradation caused by mitogenic stimulation of the EGF receptor family in cancer cells.
Recent Recommendation
Expression of common chromosomal fragile site genes, WWOX/FRA16D and FHIT/FRA3B is downregulated by exposure to environmental carcinogens, UV, and ...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN091C001
intron_variant
rs9825823
c.-163-54381A>G;c.-111+104137A>G
Discovery: 70,017 participants of European ancestry from two prior studies; Replication: meta-analysis of 28,328 participants
Discovery
GEN091C002
intron_variant
rs1353545
c.103+234744C>G;c.124+234748C>G
ASD and schizophrenia GWAS data from the Psychiatric Genomics Consortium (PGC)
Discovery
GEN091C003
intron_variant
rs1353545
c.103+234744C>G;c.124+234748C>G
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Replication (SCZ only)
