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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
Primary
Strong association of de novo copy number mutations with autism.
ASD
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
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
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
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
 GEN091R001 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN091R002 
 copy_number_gain 
  
  
 De novo 
 NA 
 Simplex 
 GEN091R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN091R004 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN091R005 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN091R006 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN091R007 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN091R008 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN091R009 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN091R010 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN091R011 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN091R012 
 copy_number_loss 
  
  
 Familial 
 Unknown 
 Multiplex 
 GEN091R013 
 intergenic_variant 
 delTTTT 
  
  
  
 Unknown 
 GEN091R014 
 intergenic_variant 
 delTTTTTTT 
  
  
  
 Unknown 
 GEN091R015 
 intergenic_variant 
 delTTTTTTTT 
  
  
  
 Unknown 
 GEN091R016 
 intergenic_variant 
 C>T 
  
  
  
 Unknown 

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) 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 25
 
3
Deletion
 1
 
3
Deletion
 7
 
3
Deletion-Duplication
 15
 
3
Deletion
 1
 
3
Duplication
 4
 
3
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARHGAP19 Rho GTPase activating protein 19 84986 Q14CB8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 IP/WB
Weiske J , et al. 2007
FDXR ferredoxin reductase 2232 P22570 Affinity chromatography; MS; IP/WB
Trapasso F , et al. 2008
FHIT fragile histidine triad gene 2272 P49789 Y2H
Rual JF , et al. 2005
FHIT fragile histidine triad gene 2272 P49789 Y2H
Corominas R , et al. 2014
FHIT fragile histidine triad gene 2272 P49789 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HSPD1 heat shock 60kDa protein 1 (chaperonin) 3329 P10809 Affinity chromatography; MS; IP/WB
Trapasso F , et al. 2008
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Lin RK , et al. 2006
MTMR6 myotubularin related protein 6 9107 Q9Y217 IP; LC-MS/MS
Huttlin EL , et al. 2015
RABL2A Rab-like protein 2A 11159 B7ZBD5 IP; LC-MS/MS
Huttlin EL , et al. 2015
REL v-rel reticuloendotheliosis viral oncogene homolog (avian) 5966 Q04864 Y2H
Corominas R , et al. 2014
UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) 7329 P63279 Y2H; GST; IP/WB
Shi Y , et al. 2000
ARNT2 aryl hydrocarbon receptor nuclear translocator 2 11864 Q61324 Gene microarray
Liu C , et al. 2003

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