VIL1
Homo sapiens
Gene Name: Villin 1
Aliases: D2S1471, VIL
Chromosome No: 2
Chromosome Band: 2q35
Genetic Category: Rare single gene variant
Aliases: D2S1471, VIL
Chromosome No: 2
Chromosome Band: 2q35
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 19
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
This gene was identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).
Molecular Function
This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN665R003
frameshift_variant
c.712dup
p.Ala238GlyfsTer23
Familial
Paternal
Multiplex
GEN665R005
splice_site_variant
c.749A>C
p.Lys250Thr
Familial
Maternal
Simplex
GEN665R007
missense_variant
c.839T>C
p.Leu280Pro
Familial
Paternal
Simplex
GEN665R008
missense_variant
c.1388C>T
p.Ala463Val
Familial
Maternal
Simplex
GEN665R009
missense_variant
c.1858C>T
p.Arg620Trp
Familial
Maternal
Simplex
GEN665R010
missense_variant
c.2051C>T
p.Thr684Ile
Familial
Maternal
Simplex
GEN665R017
splice_site_variant
c.456+1G>A
Familial
Maternal
Multiplex (monozygotic twins)
GEN665R018
frameshift_variant
c.2223del
p.Thr742LeufsTer31
Familial
Maternal
Simplex
Common
No Common Variants Available