EPPK1
Homo sapiens
Gene Name: epiplakin 1
Aliases: EPIPL, EPIPL1
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Rare single gene variant
Aliases: EPIPL, EPIPL1
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 8
Evidence score: 3
ASD Reports: 8
Recent Reports: 0
Annotated variants: 22
Associated CNVs: 8
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Four non-synonymous postzygotic mosaic mutations (PZMs) in the gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (4/571 observed vs. 58/84,448 expected; hypergeometric P-value of 6.6E-04).
Molecular Function
The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN927R009
frameshift_variant
c.6044dup
p.Val2016CysfsTer82
Familial
Maternal
Multiplex
GEN927R015
frameshift_variant
c.6608_6609insC
p.Arg2204ThrfsTer439
De novo
Multiplex
GEN927R020
stop_gained
c.6507_6508insCGCAGCTCATCTTAGAGTTGATCGAGAAGCAGGAAACCAGCAAC
p.Lys2170ArgfsTer5
Familial
Paternal
Multiplex
Common
No Common Variants Available
