CUL7
Homo sapiens
Gene Name: Cullin 7
Aliases: 3M1, KIAA0076, dJ20C7.5
Chromosome No: 6
Chromosome Band: 6p21.1
Genetic Category: Rare single gene variant
Aliases: 3M1, KIAA0076, dJ20C7.5
Chromosome No: 6
Chromosome Band: 6p21.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 27
Associated CNVs: 4
Evidence score: 3
ASD Reports: 8
Recent Reports: 0
Annotated variants: 27
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the CUL7 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015). Furthermore, two inherited likely gene-disruptive variants in CUL7 were identified in simplex ASD probands with none observed in unaffected siblings (Krumm et al., 2015).
Molecular Function
The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex that interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1).
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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN719R003
frameshift_variant
c.2166del
p.Glu723SerfsTer31
Familial
Maternal
Simplex
GEN719R018
frameshift_variant
c.3306del
p.Arg1103AlafsTer122
Familial
Maternal
Multiplex
GEN719R020
frameshift_variant
c.61_70del
p.Val21ThrfsTer54
Familial
Paternal
Multiplex
Common
No Common Variants Available
