VSIG4V-set and immunoglobulin domain containing 4
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
3 / 0Aliases
VSIG4, CRIg, Z39IGAssociated Syndromes
-Chromosome Band
Xq12Associated Disorders
-Relevance to Autism
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Molecular Function
This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses.
External Links
SFARI Genomic Platforms
Reports related to VSIG4 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders | Lim ET , et al. (2013) | Yes | - |
2 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (3)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.413-1G>A | - | splice_site_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.849C>G | p.Tyr283Ter | stop_gained | Unknown | - | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.973A>T | p.Arg325Ter | stop_gained | Familial | Maternal | Multiplex (monozygotic twins) | 23352160 | Lim ET , et al. (2013) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
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
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Reports Added
[New Scoring Scheme]7/1/2015
Increased from to 4
Description
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Krishnan Probability Score
Score 0.44727230423785
Ranking 13286/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.0001105112673887
Ranking 13028/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.38177824476419
Ranking 257/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.0417404812023
Ranking 10113/20870 scored genes
[Show Scoring Methodology]