EXOC3exocyst complex component 3
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
6 / 0Aliases
EXOC3, SEC6, SEC6L1, Sec6pAssociated Syndromes
-Chromosome Band
5p15.33Associated Disorders
-Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane.
External Links
SFARI Genomic Platforms
Reports related to EXOC3 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Integrated systems analysis reveals a molecular network underlying autism spectrum disorders | Li J , et al. (2015) | Yes | - |
2 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
3 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | nonsynonymous_variant | Unknown | - | Unknown | 25549968 | Li J , et al. (2015) | |
c.503G>A | p.Arg168His | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.59_60delinsCT | p.Leu20Pro | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1406C>T | p.Ala469Val | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.1692A>G | p.Leu564%3D | synonymous_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.2196C>T | p.Asp732%3D | synonymous_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014). Both of the non-synonymous variants in EXOC3 identified in this study were absent in 1000 Genomes (as of Jan/ Feb. 2013) and dbSNP and had GERP++ conservation scores > 4.9.
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
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014). Both of the non-synonymous variants in EXOC3 identified in this study were absent in 1000 Genomes (as of Jan/ Feb. 2013) and dbSNP and had GERP++ conservation scores > 4.9.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014). Both of the non-synonymous variants in EXOC3 identified in this study were absent in 1000 Genomes (as of Jan/ Feb. 2013) and dbSNP and had GERP++ conservation scores > 4.9.
Reports Added
[New Scoring Scheme]7/1/2018
Increased from to 4
Description
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014). Both of the non-synonymous variants in EXOC3 identified in this study were absent in 1000 Genomes (as of Jan/ Feb. 2013) and dbSNP and had GERP++ conservation scores > 4.9.
Krishnan Probability Score
Score 0.41424217453704
Ranking 21683/25841 scored genes
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ExAC Score
Score 0.75523003836991
Ranking 4181/18225 scored genes
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Sanders TADA Score
Score 0.94034899301545
Ranking 14535/18665 scored genes
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Zhang D Score
Score 0.49270189741994
Ranking 576/20870 scored genes
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