MYO9B
Homo sapiens
Gene Name: Myosin IXB
Aliases: CELIAC4, MYR5
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Rare single gene variant-
Aliases: CELIAC4, MYR5
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 34
Associated CNVs: 6
Evidence score: 3
ASD Reports: 6
Recent Reports: 1
Annotated variants: 34
Associated CNVs: 6
Evidence score: 3
| 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
his gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins that may be involved in the remodeling of the actin cytoskeleton. The protein represents an unconventional myosin, which serve in intracellular movements. Polymorphisms in this gene are associated with susceptibility to celiac disease.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
ASD-Associated De Novo Mutations in Five Actin Regulators Show Both Shared and Distinct Defects in Dendritic Spines and Inhibitory Synapses in Cult...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN661R001
frameshift_variant
c.4491dup
p.Arg1498AlafsTer13
De novo
Simplex
GEN661R005
missense_variant
c.1825G>A
p.Ala609Thr
Familial
Maternal
Simplex
GEN661R006
missense_variant
c.2104G>A
p.Gly702Arg
Familial
Paternal
Simplex
GEN661R007
missense_variant
c.4135G>A
p.Gly1379Arg
Familial
Maternal
Simplex
GEN661R008
missense_variant
c.4717G>A
p.Val1573Ile
Familial
Maternal
Simplex
GEN661R009
missense_variant
c.6040G>A
p.Gly2014Arg
Familial
Maternal
Simplex
GEN661R010
missense_variant
c.2027G>T
p.Gly676Val
Familial
Paternal
Multiplex
GEN661R011
missense_variant
c.2077C>T
p.Arg693Trp
Familial
Maternal
Simplex
GEN661R012
missense_variant
c.2107C>T
p.Arg703Cys
Familial
Paternal
Simplex
GEN661R013
missense_variant
c.3451C>T
p.Arg1151Cys
Familial
Paternal
Simplex
GEN661R014
missense_variant
c.3454C>T
p.Arg1152Trp
Familial
Maternal
Simplex
GEN661R015
missense_variant
c.4217C>T
p.Pro1406Leu
Familial
Maternal
Simplex
Common
No Common Variants Available
