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Relevance to Autism

A de novo frameshift variant in the UBR5 gene has been identified in an ASD proband from the Simons Simplex Collection (PMID 25961944). A missense mutation in the UBR5 gene was detected in all affected individuals of a Japanese pedigree (6 affected individuals through 4 generations) with familial adult myoclonic epilepsy, but not in any non-affected family members; this variant was also not detected in 85 unrelated healthy residents of the pedigree's community, nor in 24 control individuals of various ethnicities (Kato et al., 2012).

Molecular Function

This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene potentially has a role in regulation of cell proliferation or differentiation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family.
Epilepsy
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome
ASD, DD, ID, epilepsy/seizures
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN469R001 
 missense_variant 
 c.5746G>A 
 p.Asp1916Asn 
 Familial 
  
 Multi-generational 
 GEN469R002 
 synonymous_variant 
 c.4908T>C 
 p.Ala1636= 
 De novo 
  
 Unknown 
 GEN469R003 
 frameshift_variant 
 c.6672dup 
 p.Phe2225IlefsTer21 
 De novo 
  
 Simplex 
 GEN469R004 
 missense_variant 
 c.7336A>G 
 p.Met2446Val 
 De novo 
  
 Simplex 
 GEN469R005 
 missense_variant 
 c.4049A>C 
 p.Asn1350Thr 
 De novo 
  
 Simplex 
 GEN469R006 
 missense_variant 
 c.2591C>G 
 p.Ala864Gly 
 De novo 
  
 Multiplex 
 GEN469R007 
 missense_variant 
 c.3925C>T 
 p.Pro1309Ser 
 De novo 
  
  
 GEN469R008 
 synonymous_variant 
 c.381C>T 
 p.Thr127%3D 
 Unknown 
  
  
 GEN469R009 
 missense_variant 
 c.5026A>G 
 p.Ser1676Gly 
 De novo 
  
  
 GEN469R010 
 frameshift_variant 
 c.752_753del 
 p.Leu251ProfsTer2 
 De novo 
  
  
 GEN469R011 
 missense_variant 
 c.4916G>C 
 p.Arg1639Pro 
 De novo 
  
 Simplex 
 GEN469R012 
 synonymous_variant 
 c.4812G>A 
 p.Glu1604%3D 
 De novo 
  
 Simplex 
 GEN469R013 
 frameshift_variant 
 c.4447_4450del 
 p.Ile1483PhefsTer21 
 De novo 
  
 Simplex 
 GEN469R014 
 frameshift_variant 
 c.752_753del 
 p.Leu251ProfsTer2 
 De novo 
  
 Simplex 
 GEN469R015 
 missense_variant 
 c.331C>T 
 p.Pro111Ser 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
8
Duplication
 1
 
8
Duplication
 1
 
8
Duplication
 4
 
8
Deletion-Duplication
 18
 

No Animal Model Data Available





Download UBR5's Cytoscape file


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