CGNL1Cingulin-like 1
Autism Reports / Total Reports
7 / 7Rare Variants / Common Variants
8 / 0Aliases
CGNL1, JACOPAssociated Syndromes
-Chromosome Band
15q21.3Associated Disorders
-Relevance to Autism
Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a member of the cingulin family that localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1.
External Links
SFARI Genomic Platforms
Reports related to CGNL1 (7 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
2 | Primary | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
3 | Support | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder | Takata A , et al. (2018) | Yes | - |
4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
5 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
6 | Support | - | Zhou X et al. (2022) | Yes | - |
7 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (8)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.2470G>A | p.Val824Met | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2817G>T | p.Met939Ile | missense_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.964C>T | p.His322Tyr | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.2677G>C | p.Ala893Pro | missense_variant | De novo | - | Simplex | 29346770 | Takata A , et al. (2018) | |
c.2920C>A | p.Gln974Lys | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.3350G>A | p.Cys1117Tyr | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.1455del | p.Ser486ProfsTer12 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1804-6_1807del | - | splice_site_variant | Familial | Maternal | Multiplex (monozygotic twins) | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).
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
Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 3 to 3
Description
Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).
7/1/2015

Increased from to 3
Description
Two de novo missense variants in the CGNL1 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=0.04) (Iossifov et al., 2014; Krumm et al., 2015).
Krishnan Probability Score
Score 0.44732440116016
Ranking 12731/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 9.0493749988863E-14
Ranking 17507/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.92713574374741
Ranking 10599/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.34695647611461
Ranking 17798/20870 scored genes
[Show Scoring Methodology]