UBE3C
Homo sapiens
Gene Name: Ubiquitin protein ligase E3C
Aliases: tcag7.998, HECTH2
Chromosome No: 7
Chromosome Band: 7q36.3
Genetic Category: Rare Single Gene variant--Syndromic
Aliases: tcag7.998, HECTH2
Chromosome No: 7
Chromosome Band: 7q36.3
Genetic Category: Rare Single Gene variant--Syndromic
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
ASD Reports: 6
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)
Molecular Function
E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Recent Recommendation
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
DD, ID
Autistic behavior, epilepsy/seizures, stereotypy
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
GEN478R003
frameshift_variant
c.1217dup
p.Asn406LysfsTer47
Familial
Maternal
Simplex
GEN478R005a
frameshift_variant
c.1999del
p.Asp667ThrfsTer20
Familial
Both parents
Multiplex
Common
No Common Variants Available
