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Relevance to Autism

EPS15L1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families.

Molecular Function

Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1270R001 
 frameshift_variant 
 c.1122del 
 p.Leu375SerfsTer9 
 Familial 
  
  
 GEN1270R002 
 frameshift_variant 
 c.2715_2716insTGAC 
 p.Asp906Ter 
 Familial 
  
  
 GEN1270R003 
 frameshift_variant 
 c.22dup 
 p.Leu8ProfsTer13 
 Familial 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 16
 
19
Duplication
 1
 
19
Deletion
 4
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion
 2
 
19
Duplication
 2
 
19
Duplication
 1
 

No Animal Model Data Available

 

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