PRUNE2
Homo sapiens
Gene Name: prune homolog 2
Aliases: RP11-214N16.3, A214N16.3, BMCC1, BNIPXL, C9orf65, KIAA0367, RP11-58J3.2, bA214N16.3
Chromosome No: 9
Chromosome Band: 9q21.2
Genetic Category: Rare Single Gene variant-Syndromic
Aliases: RP11-214N16.3, A214N16.3, BMCC1, BNIPXL, C9orf65, KIAA0367, RP11-58J3.2, bA214N16.3
Chromosome No: 9
Chromosome Band: 9q21.2
Genetic Category: Rare Single Gene variant-Syndromic
Summary Statistics:
ASD Reports: 12
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 11
Evidence score: 3
ASD Reports: 12
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 11
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A rare mutation in the PRUNE2 gene has been identified in a patient with ASD (Vaags et al., 2012).
Molecular Function
May play an important role in regulating differentiation, survival and aggressiveness of tumor cells.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Epilepsy, ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN310R001
missense_variant
c.3173A>G
p.Glu1058Gly
Familial
Paternal
Multiplex
GEN310R003
missense_variant
c.268G>A
p.Asp90Asn
Familial
Extended multiplex (at least one pair of ASD affec
GEN310R004
missense_variant
c.2203G>A
p.Glu735Lys
De novo
Unknown
GEN310R007
frameshift_variant
c.5088_5089del
p.Glu1696AspfsTer15
Familial
Paternal
Multiplex
GEN310R009
frameshift_variant
c.183dup
p.Pro62ThrfsTer4
Familial
Paternal
Multiplex
Common
No Common Variants Available
