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Relevance to Autism

A rare de novo missense mutation in the XIRP1 gene has been identified in a proband with autism (O'Roak et al., 2011). Many missense changes were also found in control individuals.

Molecular Function

Protects actin filaments from depolymerization

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Microcephaly
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Highly Cited
Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.
Recent Recommendation
Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN266R001 
 missense_variant 
 c.1312G>A 
 p.Val438Met 
 De novo 
 NA 
 Simplex 
 GEN266R002a 
 missense_variant 
 c.4495G>A 
 p.Glu1499Lys 
 Familial 
 Both parents 
 Multiplex 
 GEN266R003 
 synonymous_variant 
 c.5254C>T 
 p.Leu1752%3D 
 De novo 
 NA 
 Unknown 
 GEN266R004 
 synonymous_variant 
 c.555A>T 
 p.(=) 
 De novo 
 NA 
 Unknown 
 GEN266R005 
 missense_variant 
 c.773G>A 
 p.Arg258Gln 
 De novo 
 NA 
 Simplex 
 GEN266R006 
 frameshift_variant 
 c.*485dup 
  
 De novo 
 NA 
 Simplex 
 GEN266R007 
 stop_gained 
 c.1708C>T 
 p.Arg570Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN266R008 
 frameshift_variant 
 c.1617del 
 p.Gln540ArgfsTer22 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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