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Relevance to Autism

Conflicting studies have shown positive genetic association and no genetic association of the ATP10C gene with autism.

Molecular Function

The encoded protein is a member of the aminophospholipid-transporting ATPase family.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism.
ASD
Negative Association
Mutation screening and transmission disequilibrium study of ATP10C in autism.
ASD
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Highly Cited
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.
Recent Recommendation
A type IV P-type ATPase affects insulin-mediated glucose uptake in adipose tissue and skeletal muscle in mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN021R001 
 missense_variant 
 c.3797A>G 
 p.Gln1266Arg 
 De novo 
 NA 
 Simplex 
 GEN021R002 
 missense_variant 
 c.1319G>A 
 p.Arg440Gln 
 De novo 
 NA 
 Simplex 
 GEN021R003 
 missense_variant 
 c.4156G>A 
 p.Glu1386Lys 
 De novo 
 NA 
 Simplex 
 GEN021R004 
 missense_variant 
 c.622C>T 
 p.Arg208Trp 
 Unknown 
  
 Unknown 
 GEN021R005 
 stop_gained 
 c.1560C>A 
 p.His520Gln 
 Familial 
 Maternal 
 Simplex 
 GEN021R006 
 missense_variant 
 c.497G>A 
 p.Gly166Glu 
 De novo 
 NA 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN021C001 
 synonymous_variant 
 rs1047700 
 c.4449A>G;c.2880A>G 
 p.(=) 
 US 
 Discovery 
 GEN021C002 
 intron_variant 
 rs1345098 
 c.450-31252C>A 
  
 US 
 Discovery 
 GEN021C003 
 intron_variant 
 rs11630555 
 c.449+31878A>G 
  
 US 
 Discovery 
 GEN021C004 
 2KB_upstream_variant 
 rs1444621 
 c.-417A>G 
  
 US 
 Discovery 
 GEN021C005 
 2KB_upstream_variant 
 rs1553897 
 c.-770T>C 
  
 US 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 7
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 
15
Deletion-Duplication
 9
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
TMEM30A transmembrane protein 30A 55754 Q9NV96 IP/WB
Naito T , et al. 2015

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