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Relevance to Autism

Genetic association has been found between the RHOXF1 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).

Molecular Function

May be a transcription factor involved in reproductive processes.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Highly Cited
OTEX, an androgen-regulated human member of the paired-like class of homeobox genes.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN216C001 
 5KB_upstream_variant 
 rs6646569 
  
 T>C 
 US and European 
 Discovery 
 GEN216C002 
 intergenic_variant 
 rs6646569 
  
  
 Discovery cohort: 2165 participants from AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 12
 
X
Deletion
 4
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
NPAS2 neuronal PAS domain protein 2 4862 Q99743 M2H
Ravasi T , et al. 2010
VTN vitronectin 7448 D9ZGG2 Y2H
Wang J , et al. 2011

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