ATP10A
Homo sapiens
Gene Name: Probable phospholipid-transporting ATPase VA
Aliases: ATP10C
Chromosome No: 15
Chromosome Band: 15q12
Genetic Category: Genetic Association-Functional-Rare single gene variant
Aliases: ATP10C
Chromosome No: 15
Chromosome Band: 15q12
Genetic Category: Genetic Association-Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 14
Evidence score: 2
ASD Reports: 10
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 14
Evidence score: 2
| Associated Disorders: |
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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
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
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
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
GEN021R006
missense_variant
c.497G>A
p.Gly166Glu
De novo
Simplex
GEN021R007
frameshift_variant
c.4276del
p.Leu1426CysfsTer66
Familial
Paternal
Multiplex
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
