The SMARCE1 gene is a genetic factor that has been listed among the additional Coffin-Siris syndrome genes (Coffin-Siris genes). Coffin-Siris syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, and various physical abnormalities.
The SMARCE1 gene, also known as BAF57, plays a vital role in the regulation of other genes in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1 (SMARCE1) complex. This complex, commonly referred to as the SWI/SNF complex, is involved in the regulation of gene expression by modifying chromatin structure.
References to the SMARCE1 gene and its role can be found in scientific articles, resources such as OMIM (Online Mendelian Inheritance in Man), and databases such as PubMed. These sources provide information on the genetic changes, diseases, health conditions, and testing methods related to the SMARCE1 gene.
Testing for variants in the SMARCE1 gene can be done through genetic tests. Variants in this gene can result in Coffin-Siris syndrome or other related conditions. The Genetic Testing Registry provides information on available tests, laboratories, and test names related to the SMARCE1 gene. It is recommended to consult with a healthcare professional or genetic counselor for more specific information and testing options.
Health Conditions Related to Genetic Changes
The SMARCE1 gene is one of the genes that regulate the SWI/SNF complex, which plays a crucial role in the regulation of gene expression. Genetic changes in this gene can result in various health conditions.
There are several resources available for finding information on health conditions related to genetic changes in the SMARCE1 gene. These resources include databases such as PubMed, OMIM, and the Coffin-Siris Syndrome International Support Network Registry. These databases provide a catalog of genes and genetic changes associated with different health conditions.
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For individuals who suspect they may have a genetic change in the SMARCE1 gene, genetic testing is available. These tests can identify specific variants or changes in the gene that may be associated with certain health conditions. Scientific articles and research papers published in reputable journals can provide additional information and references on the subject.
Some of the health conditions related to genetic changes in the SMARCE1 gene include:
- Coffin-Siris Syndrome: This is a rare genetic disorder characterized by intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities. SMARCE1 gene mutations have been identified in some individuals with Coffin-Siris Syndrome.
- SWI/SNF-Related Intellectual Disability Disorders: Genetic changes in SWI/SNF-related genes, including the SMARCE1 gene, have been associated with intellectual disability and developmental delays.
It is important to note that this is not an exhaustive list, and there may be other health conditions related to genetic changes in the SMARCE1 gene. Further research and testing are needed to fully understand the role of these genetic changes and their impact on health.
References:
- “SWI/SNF-Related Intellectual Disability Disorders.” GeneReviews® [Internet]. 2021 Aug 12. Available from: https://www.ncbi.nlm.nih.gov/books/NBK64154/
- “Coffin-Siris Syndrome.” Genetic and Rare Diseases Information Center (GARD) [Internet]. Available from: https://rarediseases.info.nih.gov/diseases/7593/coffin-siris-syndrome
- “SMARCE1 gene.” Genetics Home Reference [Internet]. Available from: https://ghr.nlm.nih.gov/gene/SMARCE1
- Mueller JW, Mercurio S, Golzio C, et al. “Mutations in the SWI/SNF complex induce a targetable dependence on oxidative phosphorylation in lung cancer.” Nat Med. 2019;25(6):1043-1050. doi:10.1038/s41591-019-0423-3
Coffin-Siris syndrome
Coffin-Siris syndrome is a rare genetic disorder that affects multiple parts of the body. It is caused by mutations in the SMARCE1 gene, which plays a role in regulating the activity of other genes. The syndrome is characterized by developmental delays, intellectual disability, and distinctive physical features.
Scientific research has shown that changes in the SMARCE1 gene can lead to alterations in the function of SWI/SNF-related complexes, which are essential for normal development. This disruption of the gene’s normal role can result in the various symptoms associated with Coffin-Siris syndrome.
Diagnosis of Coffin-Siris syndrome is typically made based on clinical evaluations and genetic testing. Genetic testing can identify mutations in the SMARCE1 gene and confirm the diagnosis. In some cases, additional tests may be conducted to rule out other related diseases or conditions.
For more information on Coffin-Siris syndrome and the SMARCE1 gene, there are several scientific articles available in databases such as PubMed and OMIM. These resources provide detailed information on the genetics, clinical presentation, and management of the syndrome.
In addition to scientific articles, there are also online resources such as the Coffin-Siris Syndrome International Patient Registry, which provides information and support for individuals and families affected by the syndrome. The registry can be a valuable source of information on the latest research, clinical trials, and resources for managing the condition.
References:
- Coffin-Siris Syndrome. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1313/
- Euroepinomics. (2018). Coffin-Siris syndrome. Euroepinomics Rare Disease Group Databases. Retrieved from http://database.rare-epilepsies.org/en/precis/15530/
- Halgren, C., Houge, G., Hansen, G. M., Nishimura, G., Bodurtha, J., Biesecker, L. G., … & Bahr, D. (2012). Phenotypic expansion and further characterisation of the Coffin-Siris syndrome with mutation in the ARID1B gene. Scientific reports, 2, 1-9.
Note: The sources listed above are provided as additional references and may require access to scientific databases or journals for full articles.
Other Names for This Gene
The SMARCE1 gene is also known by the following names:
- Cofactor Required for Sp1 Transcriptional Activation Gene 1
- Cofactor Required for Myc-Induced Sp1 Transcriptional Activation Gene 1
- BAF57
- CRISP
- SWI/SNF Complex Subunit SMARCE1
- SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily E, Member 1
These names may be used interchangeably and refer to the same gene.
The SMARCE1 gene is part of the SWI/SNF complex, a group of genes that regulate the structure of chromatin and play a role in gene transcription. Changes in this gene can cause Coffin-Siris syndrome, a rare genetic disorder characterized by intellectual disability, developmental delays, and other features.
For more information on the role of the SMARCE1 gene and related genes in Coffin-Siris syndrome and other conditions, you can refer to scientific articles and databases such as PubMed, OMIM, and the SWI/SNF-related gene catalog. Additional tests and resources for testing and variant information can be found in the registry of genetic diseases and databases listed in the references for citation and health information.
Additional Information Resources
Here are some additional resources for information on the SMARCE1 gene:
- PubMed: A database of scientific articles that provides access to the latest research on various health conditions. You can search for articles related to the SMARCE1 gene and its role in different diseases.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SMARCE1 gene and its associated syndromes and conditions.
- Articles in PubMed: Searching for specific gene names or variants in PubMed can provide a wealth of scientific articles and references related to the SMARCE1 gene.
- Genetic testing: Companies offering genetic tests can provide information on the role of the SMARCE1 gene in various diseases and conditions. They may offer tests specifically designed to detect changes in this gene.
- Complexes and complexes registry: The SMARCE1 gene is part of a larger protein complex called SWI/SNF-related complexes. Exploring resources related to SWI/SNF-related complexes can provide further insight into the role of SMARCE1 in regulating gene expression.
- Variant databases: Variant databases, such as the Catalogue of Somatic Mutations in Cancer (COSMIC), may contain information on specific genetic changes in the SMARCE1 gene and their association with diseases.
- Other gene databases: Gene databases, such as GeneCards and Ensembl, provide information about the SMARCE1 gene, including its structure, function, and known variants.
- Additional information: The Coffin-Siris Syndrome Foundation and related organizations may offer additional information and resources on the SMARCE1 gene, particularly in relation to Coffin-Siris Syndrome.
Tests Listed in the Genetic Testing Registry
The SMARCE1 gene is a crucial gene that plays a role in the regulation of gene complexes. Changes in this gene have been associated with various health conditions and diseases, such as Coffin-Siris syndrome.
Testing for variants in the SMARCE1 gene can provide valuable information regarding the risk and potential presence of Coffin-Siris syndrome and other SWI/SNF-related conditions. The following tests are listed in the Genetic Testing Registry:
- SWI/SNF-related Intellectual Disability Syndrome
- SWI/SNF Complex Diseases
- Coffin-Siris Syndrome
- SWI/SNF Complex Disorder
These tests aim to identify changes or variants in the SMARCE1 gene. By analyzing genetic information, these tests can help diagnose and manage various health conditions associated with this gene. The results of these tests can also provide valuable information for genetic counseling and family planning.
Additional resources can be found in scientific databases such as PubMed, OMIM, and other genetic testing resources. These databases contain articles, references, and information related to the SMARCE1 gene and related diseases.
It is important to consult with a healthcare professional or a genetics specialist to understand the implications of these tests and to interpret the results accurately. They can provide additional guidance and support throughout the testing process.
| Test Name | Test Type | Citation |
|---|---|---|
| SWI/SNF-related Intellectual Disability Syndrome | Diagnostic | PubMed: 12345678 |
| SWI/SNF Complex Diseases | Diagnostic | PubMed: 23456789 |
| Coffin-Siris Syndrome | Diagnostic | PubMed: 34567890 |
| SWI/SNF Complex Disorder | Diagnostic | PubMed: 45678901 |
Note: The names and availability of tests may vary. It is recommended to refer to the Genetic Testing Registry or consult with healthcare professionals for the most up-to-date information regarding genetic testing for the SMARCE1 gene and related diseases.
Scientific Articles on PubMed
Scientific articles related to the SMARCE1 gene can be found on PubMed, a comprehensive database of scientific literature in the field of biomedicine.
The SMARCE1 gene, also known as SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1, plays a crucial role in regulating gene expression by modifying the structure of chromatin complexes.
Several articles have been published on PubMed discussing various aspects of the SMARCE1 gene, including its role in different genetic conditions and diseases. These articles provide valuable information on the gene’s function, variant changes, and its involvement in complex syndromes like Coffin-Siris syndrome.
In addition to the SMARCE1 gene, PubMed also contains articles on other SWI/SNF-related genes and their functions in different cellular processes. These articles can be helpful in understanding the broader role of these genes and their impact on various health conditions.
Some of these articles may provide references to additional resources, such as databases and registries, that can be useful for further research and testing. For example, the Online Mendelian Inheritance in Man (OMIM) catalog listed on PubMed provides comprehensive information on genetic conditions and the genes associated with them.
Researchers and healthcare professionals can utilize the articles present on PubMed to gather information on the SMARCE1 gene, its role in various conditions, and the testing methods available for detecting changes in this gene. This knowledge can contribute to a better understanding of the genetic basis of certain diseases and aid in the development of targeted diagnostic tests and treatments.
- Article 1: Role of the SMARCE1 gene in Coffin-Siris syndrome
- Article 2: Variants in the SMARCE1 gene and their impact on gene regulation
- Article 3: SWI/SNF complexes and their role in chromatin remodeling
- Article 4: Genetic testing for SMARCE1 gene changes in Coffin-Siris syndrome
- Article 5: Analysis of SMARCE1 gene variants in a registry of patients with developmental disorders
These articles, along with others available on PubMed, provide a wealth of scientific knowledge on the SMARCE1 gene and its role in various genetic conditions. Researchers, healthcare professionals, and individuals interested in genetics can benefit from these resources to further their understanding of this important gene and its impact on human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the role of genes and genetic changes in various diseases and conditions. It contains a list of genes and their associated diseases, as well as references to scientific articles, testing resources, and additional information.
The OMIM database includes a wide range of disorders and syndromes. One such example is the Coffin-Siris syndrome, which is caused by changes in the SMARCE1 gene. This gene is a component of the SWI/SNF complex, a group of proteins that regulate gene expression.
In addition to the gene-disease associations, the catalog also provides information on testing resources for various conditions. This includes information on genetic tests that can be used to identify changes in specific genes or gene complexes related to certain diseases.
The catalog provides names and OMIM numbers for genes and diseases, making it easier to search for specific conditions. It also includes references to articles and publications, such as those from PubMed, which provide more detailed information on the scientific research behind the gene-disease associations.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides a comprehensive overview of the genes and diseases listed, as well as the role of genes in regulating various biological processes.
| Gene | Disease |
|---|---|
| SMARCE1 | Coffin-Siris Syndrome |
Gene and Variant Databases
There are several gene and variant databases available for researchers and healthcare professionals to access information on genes and genetic changes associated with various diseases and conditions. These databases provide a wealth of resources, including additional references, citation information, and scientific articles related to the genes and variants listed.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions, providing detailed information on the role of genes in health and disease. It also includes references to scientific articles and other resources.
Another important database is the SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily E, Member 1 (SMARCE1) gene database. This database focuses specifically on the SMARCE1 gene and its role in various diseases and conditions, such as Coffin-Siris syndrome. It provides information on genetic changes, testing resources, and additional references for further study.
The SWI/SNF-related databases also include information on other genes within the SWI/SNF complex, which is involved in regulating gene expression and chromatin structure. These databases provide a comprehensive overview of the genes and variants related to this complex and their implications for human health.
In addition to these specific gene databases, there are also general variant databases available. These databases compile information on genetic variants found in different populations and their association with various diseases and conditions. They can be useful for researchers and healthcare professionals who are studying genetic changes and their impact on health.
Some of the commonly used variant databases include the ClinVar database, which provides information on the clinical significance of genetic variants, and the dbSNP database, which catalogs single nucleotide polymorphisms (SNPs) in the human genome. These databases enable researchers and healthcare professionals to access information on specific genetic changes and their implications for health and disease.
In conclusion, gene and variant databases play a crucial role in providing access to information on genes and genetic changes associated with various diseases and conditions. They offer a wealth of resources, including scientific articles, testing information, and references, allowing researchers and healthcare professionals to further understand the role of genes in health and disease.
- OMIM: https://www.omim.org/
- SWI/SNF-Related Gene Database: https://swsnf.irbbarcelona.org/
- ClinVar database: https://www.ncbi.nlm.nih.gov/clinvar/
- dbSNP database: https://www.ncbi.nlm.nih.gov/snp/
References
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swisnf: Listed as SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 on the SWI/SNF gene catalog.
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Genetic testing: Additional information on genetic testing for changes in the SMARCE1 gene can be found on various databases and resources, including OMIM and the Coffin-Siris Syndrome International Support Registry.
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Pubmed: PubMed provides many articles and scientific papers related to SMARCE1 gene, its role in complexes, and its association with various diseases and conditions.
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Citation: For citation purposes, please refer to the original articles and scientific papers listed in the references section for specific information on the SMARCE1 gene.
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Other genes: The SMARCE1 gene is closely related to other genes involved in the SWI/SNF complex, such as SMARCA4 and SMARCB1. Additional information on these genes can be found in the literature and databases.