TSPOAP1TSPO associated protein 1
Autism Reports / Total Reports
5 / 8Rare Variants / Common Variants
10 / 0Aliases
TSPOAP1, BZRAP1, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1Associated Syndromes
-Chromosome Band
17q22Associated Disorders
-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
SFARI Genomic Platforms
Reports related to TSPOAP1 (8 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Highly Cited | The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins | Wang Y , et al. (2000) | No | - |
| 2 | Primary | Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes | Bucan M , et al. (2009) | Yes | - |
| 3 | Recent Recommendation | Gene array analysis of adrenal glands in broiler chickens following ACTH treatment | Bureau C , et al. (2009) | No | - |
| 4 | Support | Genome-wide characteristics of de novo mutations in autism | Yuen RK et al. (2016) | Yes | - |
| 5 | Support | - | Zhou X et al. (2022) | Yes | - |
| 6 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
| 7 | Support | - | Soo-Whee Kim et al. (2024) | Yes | - |
| 8 | Highly Cited | Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor | Galigue S , et al. (1999) | No | - |
Rare Variants (10)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | - | - | Multiplex | 19557195 | Bucan M , et al. (2009) | |
| c.1043G>A | p.Arg348Gln | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.2495G>A | p.Arg832Gln | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.4078C>T | p.Pro1360Ser | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.2262C>T | p.Ser754%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.313G>T | p.Glu105Ter | stop_gained | De novo | - | Simplex | 27525107 | Yuen RK et al. (2016) | |
| c.5439A>G | p.Glu1813%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.127G>A | p.Ala43Thr | missense_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
| c.1248G>T | p.Glu416Asp | splice_region_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.5541_5544del | p.Ser1847ArgfsTer14 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
There is a single study showing an association of exonic deletions and duplications involving the TSPOAP1 gene (formerly known as BZRAP1) with ASD (Bucan et al.; PMID: 19557195); no deletions in this gene were observed in 2539 controls (combined P-value 0.0008). A de novo nonsense variant in this gene was observed in an ASD proband from a cohort of 200 Canadian ASD trio families in Yuen et al., 2016.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
There is a single study showing an association of exonic deletions and duplications involving the TSPOAP1 gene (formerly known as BZRAP1) with ASD (Bucan et al.; PMID: 19557195); no deletions in this gene were observed in 2539 controls (combined P-value 0.0008). A de novo nonsense variant in this gene was observed in an ASD proband from a cohort of 200 Canadian ASD trio families in Yuen et al., 2016.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
There is a single study showing an association of exonic deletions and duplications involving the TSPOAP1 gene (formerly known as BZRAP1) with ASD (Bucan et al.; PMID: 19557195); no deletions in this gene were observed in 2539 controls (combined P-value 0.0008). A de novo nonsense variant in this gene was observed in an ASD proband from a cohort of 200 Canadian ASD trio families in Yuen et al., 2016.
Reports Added
[New Scoring Scheme]7/1/2018
Increased from to 4
Description
There is a single study showing an association of exonic deletions and duplications involving the TSPOAP1 gene (formerly known as BZRAP1) with ASD (Bucan et al.; PMID: 19557195); no deletions in this gene were observed in 2539 controls (combined P-value 0.0008). A de novo nonsense variant in this gene was observed in an ASD proband from a cohort of 200 Canadian ASD trio families in Yuen et al., 2016.