CAPRIN1Cell cycle associated protein 1
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
2 / 0Aliases
CAPRIN1, GPIAP1, GPIP137, M11S1, RNG105, p137GPIAssociated Syndromes
-Genetic Category
Rare Single Gene Mutation, FunctionalChromosome Band
11p13Associated Disorders
-Relevance to Autism
CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (El Fatimay et al., 2012). A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband (Jiang et al., 2013).
Molecular Function
May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs .
Reports related to CAPRIN1 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Recent Recommendation | Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected]. | El Fatimy R , et al. (2012) | No | - |
2 | Primary | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | Jiang YH , et al. (2013) | Yes | - |
3 | Support | Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty. | Ohashi R , et al. (2016) | No | - |
4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. | Ruzzo EK , et al. (2019) | Yes | - |
Rare Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.1195C>T | p.Gln399Ter | stop_gained | De novo | NA | Simplex | 23849776 | Jiang YH , et al. (2013) | |
c.377_380del | p.Thr126LysfsTer11 | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence


A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
Score Delta: Score remained at 3
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.
10/1/2019

Decreased from 3 to 1
New Scoring Scheme
Description
A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 3 to 3
Description
A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
7/1/2018

Decreased from 4.5 + acc3 to 3
Description
A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
4/1/2018

Increased from 3 to 4.5 + acc3
Description
3
1/1/2016

Increased from 3 to 3
Description
A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
Reports Added
[Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.2013] [Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected].2012] [Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty.2016]7/1/2015

Increased from to 3
Description
A de novo nonsense variant in CAPRIN1 was identified in a male ASD proband; this variant was not present in dbSNP135, 1000 Genomes, or ESP6500 (PMID 23849776). CAPRIN1 interacts with Fragile X Mental Retardation Protein (FMRP) at the level of the translation machinery as well as in trafficking neuronal granules (PMID 22737234).
Krishnan Probability Score
Score 0.44686544718121
Ranking 14379/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.9997676618087
Ranking 798/18225 scored genes
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Sanders TADA Score
Score 0.93066640588775
Ranking 11490/18665 scored genes
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Larsen Cumulative Evidence Score
Score 9
Ranking 196/461 scored genes
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Zhang D Score
Score 0.39953012821414
Ranking 1472/20870 scored genes
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Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
G3BP1 | GTPase activating protein (SH3 domain) binding protein 1 | Human | Protein Binding | 10146 | Q13283 |