UBN2
Homo sapiens
Gene Name: ubinuclein 2
Aliases:
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 25
Associated CNVs: 9
Evidence score: 3
ASD Reports: 5
Recent Reports: 1
Annotated variants: 25
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A de novo loss-of-function (LoF) variant in the UBN2 gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a multiplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), UBN2 was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
This gene encodes a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN887R005
frameshift_variant
c.3449dup
p.Asn1151LysfsTer26
Familial
Maternal
GEN887R007
missense_variant
c.2746G>A
p.Glu916Lys
Familial
Paternal
Multiplex
Common
No Common Variants Available
