HELP     Sign In
Search

Relevance to Autism

Rare nonsynonymous variants in the FAN1 gene were found to cluster significantly in individuals affected with ASD and schizophrenia within a 20-kb window that spans several key functional domains of the gene (Ionita-Laza et al., 2013). In particular, a missense variant within the FAN1 gene that displayed a 4/0 transmitted/untransmitted ratio in schizophrenia patients was also found to have an increased frequency in ASD cases compared to controls (0.018 vs. 0.008; Barnard test one-sided P=0.039) and compared to 4600 European Americans in the NHLBI Exome Variant Server (0.018 vs. 0.0079; Barnard test one-side P=0.004).

Molecular Function

Nuclease required for maintenance of chromosomal stability. Plays a key role in DNA repair of DNA interstrand cross-links (ICL). Defects in this gene are associated with Interstitial nephritis, karyomegalic (KMIN) (MIM:614817).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.
ASD
SCZ
Positive Association
Common variants in FAN1, located in 15q13.3, confer risk for schizophrenia and bipolar disorder in Han Chinese
SCZ, BPD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN589R001 
 missense_variant 
 c.1520G>A 
 p.Arg507His 
 Unknown 
  
 Unknown 
 GEN589R002 
 missense_variant 
 c.1520G>A 
 p.Arg507His 
 Familial 
 Maternal 
 Unknown 
 GEN589R003 
 missense_variant 
  
  
 Unknown 
  
 Unknown 
 GEN589R004 
 missense_variant 
  
  
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Duplication
 66
  construct
15
Duplication
 14
 
15
Duplication
 3
 
15
Deletion-Duplication
 13
 
15
Deletion
 18
 
15
Deletion-Duplication
 43
 
15
Deletion-Duplication
 71
  construct

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FANCD2 Fanconi anemia, complementation group D2 2177 Q9BXW9 IP; LC-MS/MS; IP/WB; Co-localization
MacKay C , et al. 2010
FANCG Fanconi anemia, complementation group G 2189 O15287 IP; LC-MS/MS
MacKay C , et al. 2010
FANCI Fanconi anemia, complementation group I 55215 Q9NVI1 IP; LC-MS/MS; IP/WB
MacKay C , et al. 2010
KPNB1 karyopherin (importin) beta 1 3837 Q14974 IP; LC-MS/MS
MacKay C , et al. 2010
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 4292 P40692 IP; LC-MS/MS; IP/WB
MacKay C , et al. 2010
PCNA proliferating cell nuclear antigen 5111 P12004 IP; LC-MS/MS
MacKay C , et al. 2010
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 5378 P54277 IP; LC-MS/MS
MacKay C , et al. 2010
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 5395 P54278 IP; LC-MS/MS; IP/WB
MacKay C , et al. 2010
RFC3 replication factor C (activator 1) 3, 38kDa 5983 P40938 IP; LC-MS/MS
MacKay C , et al. 2010
RFC4 replication factor C (activator 1) 4, 37kDa 5984 P35249 IP; LC-MS/MS
MacKay C , et al. 2010
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 7531 P62258 IP; LC-MS/MS
MacKay C , et al. 2010
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 IP; LC-MS/MS
MacKay C , et al. 2010

HELP
Copyright © 2017 MindSpec, Inc.