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Relevance to Autism

A de novo splice-site variant and an inherited damaging missense variant in the TM4SF19 gene were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2012; Krumm et al., 2015). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified TM4SF19 as an ASD candidate gene with a PTADA of 0.007613.

Molecular Function

The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN959R001 
 splice_site_variant 
 c.202-1G>A 
  
 De novo 
 NA 
 Simplex 
 GEN959R002 
 missense_variant 
 c.178G>A 
 p.Gly60Arg 
 Familial 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Deletion
 4
 
3
Duplication
 4
 
3
Deletion-Duplication
 55
 

No Animal Model Data Available

No PIN Data Available
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