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Relevance to Autism

A rare deletion in the SLC38A10 gene has been identified with autism (Celestino-Soper et al., 2011).

Molecular Function

This protein is a putative sodium-dependent neutral amino acid transporter.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN270R001a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Simplex 
 GEN270R002 
 frameshift_variant 
 c.3332_3335del 
 p.Gln1111ArgfsTer14 
 Familial 
 Paternal 
 Multiplex 
 GEN270R003 
 stop_gained 
 c.1585G>T 
 p.Gly529Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN270R004 
 synonymous_variant 
 c.645C>T 
 p.Tyr215%3D 
 De novo 
  
  
 GEN270R005 
 synonymous_variant 
 c.645C>T 
 p.Tyr215%3D 
 De novo 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Deletion-Duplication
 7
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 3
 
17
Deletion-Duplication
 5
 
17
Deletion-Duplication
 29
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
EDEM2 ER degradation enhancer, mannosidase alpha-like 2 55741 Q9BV94 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HLA-DPA1 HLA class II histocompatibility antigen, DP alpha 1 chain 3113 P20036 IP; LC-MS/MS
Huttlin EL , et al. 2015
HTR3C 5-hydroxytryptamine receptor 3C 170572 Q8WXA8 IP; LC-MS/MS
Huttlin EL , et al. 2015
SYP synaptophysin NM_003179 P08247 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOR1AIP2 torsin A interacting protein 2 163590 Q8NFQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 IP; MS
Kim W , et al. 2011
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014

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