TSPOAP1
Homo sapiens
Gene Name: TSPO associated protein 1
Aliases: BZRAP1, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1
Chromosome No: 17
Chromosome Band: 17q22
Genetic Category: Rare Single Gene variant
Aliases: BZRAP1, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1
Chromosome No: 17
Chromosome Band: 17q22
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 18
Associated CNVs: 5
Evidence score: 2
ASD Reports: 9
Recent Reports: 1
Annotated variants: 18
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare variants in the TSPOAP1/BZRAP1 gene have been identified with autism (Bucan et al., 2009).
Molecular Function
Multi-domain adaptor protein
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Highly Cited
Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor.
Highly Cited
The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins.
Recent Recommendation
Gene array analysis of adrenal glands in broiler chickens following ACTH treatment.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN026R015
frameshift_variant
c.5541_5544del
p.Ser1847ArgfsTer14
Familial
Maternal
Multiplex
GEN026R017
missense_variant
c.4258C>T
p.Arg1420Trp
De novo
Unknown
Common
No Common Variants Available