XIRP1
Homo sapiens
Gene Name: xin actin-binding repeat containing 1
Aliases: CMYA1, Xin
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Rare Single Gene variant
Aliases: CMYA1, Xin
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 1
Evidence score: 3
ASD Reports: 11
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
|
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
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
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
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
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
GEN266R002a
missense_variant
c.4495G>A
p.Glu1499Lys
Familial
Both parents
Multiplex
GEN266R003
synonymous_variant
c.5254C>T
p.Leu1752=
De novo
Unknown
GEN266R004
synonymous_variant
c.555A>T
p.(=)
De novo
Unknown
GEN266R008
frameshift_variant
c.1617del
p.Gln540ArgfsTer22
Familial
Maternal
Multiplex
GEN266R013
frameshift_variant
c.3351del
p.Arg1118GlufsTer8
Familial
Maternal
Multiplex
Common
No Common Variants Available