GPC4glypican 4
Autism Reports / Total Reports
1 / 2Rare Variants / Common Variants
2 / 0Aliases
GPC4, K-glypicanAssociated Syndromes
-Chromosome Band
Xq26.2Associated Disorders
-Relevance to Autism
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan et al., 2016).
Molecular Function
This gene encodes a cell surface proteoglycan that bears heparan sulfate and may be involved in the development of kidney tubules and of the central nervous system.
External Links
SFARI Genomic Platforms
Reports related to GPC4 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior | Doan RN , et al. (2016) | Yes | - |
2 | Recent Recommendation | Astrocyte-Secreted Glypican 4 Regulates Release of Neuronal Pentraxin 1 from Axons to Induce Functional Synapse Formation | Farhy-Tselnicker I , et al. (2017) | No | - |
Rare Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.161-23411A>G | - | intron_variant | Familial | Both parents | Unknown | 27667684 | Doan RN , et al. (2016) | |
c.161-23465del | - | intron_variant | Familial | Both parents | Unknown | 27667684 | Doan RN , et al. (2016) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan 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.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan et al., 2016).
Reports Added
[New Scoring Scheme]10/1/2017
Decreased from 3 to 3
Description
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan et al., 2016).
10/1/2016
Increased from to 3
Description
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan et al., 2016).
Krishnan Probability Score
Score 0.49103297284304
Ranking 5835/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.94847697481638
Ranking 2715/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.93622413019359
Ranking 13127/18665 scored genes
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Zhang D Score
Score 0.13925807444939
Ranking 5370/20870 scored genes
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