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Relevance to Autism

Maternally-inherited loss-of-function variants in the FAM47A gene were identified in two male ASD probands by whole genome sequencing as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of multiple LoF variants and a probability of LoF intolerance rate (pLI) > 0.65, FAM47A was determined to be an ASD candidate gene in this report.

Molecular Function

This gene encodes a protein of unknown function.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN895R001a 
 frameshift_variant 
 c.1551_1588del 
 p.Glu520GlyfsTer65 
 Familial 
 Maternal 
 Simplex 
 GEN895R001b 
 frameshift_variant 
 c.1590del 
 p.Gly531ValfsTer50 
 Familial 
 Maternal 
 Simplex 
 GEN895R002a 
 frameshift_variant 
 c.1504_1540del 
 p.Ser502ArgfsTer67 
 Familial 
 Maternal 
 Simplex 
 GEN895R002b 
 frameshift_variant 
 c.1542_1543del 
 p.Ser515GlnfsTer82 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 25
 
X
Duplication
 5
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

No PIN Data Available
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