AFF4 gene – Austra Health

The AFF4 gene is a genetic variant that has been linked to certain developmental disorders and cancers. This gene is part of a complex of proteins called the Super Elongation Complex (SEC), which plays a role in the development and regulation of gene expression. Mutations or changes in the AFF4 gene have been found in individuals with various conditions, including a syndrome known as the CHOPS syndrome.

The AFF4 gene is listed in several genetic databases and is also referenced in scientific articles and resources. It is included in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the genetic basis of human diseases. The gene is also listed in the PubMed database, where scientific articles related to its function and role in diseases are available.

Testing for mutations in the AFF4 gene can be done through genetic testing services and laboratories that specialize in analyzing genes and genetic variants. The results of these tests can provide additional information about an individual’s health and potential risks for certain diseases or conditions linked to AFF4 gene mutations.

In conclusion, the AFF4 gene is an important gene involved in the development and regulation of gene expression. Mutations or changes in this gene have been associated with various developmental disorders and cancers. Scientists and researchers continue to study the function and role of the AFF4 gene in order to gain a better understanding of its impact on human health and diseases.

Health Conditions Related to Genetic Changes

Genetic changes can lead to a variety of health conditions and syndromes. Many of these conditions are listed in various scientific databases, such as PubMed, OMIM, and CHOP’s Genetic Testing Registry. These resources provide valuable information on the genes, proteins, and other factors involved in the development of these conditions.

Some genetic changes can result in specific syndromes, such as AFF4 gene syndrome. This syndrome is caused by changes in the AFF4 gene and can lead to various developmental abnormalities and intellectual disabilities.

Genetic changes can also increase the risk of certain cancers. For example, changes in certain genes, such as BRCA1 and BRCA2, are associated with an increased risk of breast and ovarian cancers.

Genetic testing can be used to identify these changes and diagnose individuals with these health conditions. Testing can be done for specific genes or for a panel of genes associated with a particular condition or syndrome.

In addition to genetic testing, there are other resources available for individuals and families affected by genetic changes. Support groups and patient registries can provide a sense of community and access to information and resources. These resources can help individuals and families navigate the challenges of living with a genetic condition.

Scientific articles and publications also provide valuable information on genetic changes and the associated health conditions. These articles often include references to additional research and resources for further reading.

It is important to note that genetic changes can have a wide range of effects, and not all changes result in health conditions or syndromes. Some changes may be benign or have unknown effects. Genetic counseling can provide guidance and support for individuals and families navigating the complexities of genetic testing and the implications of genetic changes.

CHOPS syndrome

CHOPS syndrome, also known as Calabro syndrome, is a rare genetic disorder characterized by multiple abnormalities and developmental challenges. It is caused by changes in the AFF4 gene, which is involved in the regulation of gene expression.

Individuals with CHOPS syndrome may present with a wide range of symptoms and conditions, including intellectual disability, distinctive facial features, heart defects, obesity, and skeletal abnormalities. Additional features may include hearing loss, vision problems, and speech delays.

The diagnosis of CHOPS syndrome is based on clinical features and genetic testing. Testing for changes in the AFF4 gene can confirm the diagnosis. Genetic testing may also include testing for related genes and analysis of gene expression changes.

This article provides an overview of CHOPS syndrome and a list of additional resources for further information. The information in this article is based on scientific articles, references, and databases.

CHOPS Syndrome Resources

OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. Visit the OMIM website for detailed information on CHOPS syndrome and related genes.
PubMed: PubMed is a database of scientific articles in the field of medicine and health. Search PubMed for articles and research papers on CHOPS syndrome and related topics.
Genetic Testing: Genetic testing companies may offer specific tests for CHOPS syndrome and related genetic conditions. Consult your healthcare provider for information on available genetic testing options.
Birth Defects Registry: Some countries have birth defect registries that collect information on rare genetic disorders. Contact your local health authorities for information on how to register a case of CHOPS syndrome.

References and Additional Reading

Shilatifard A. et al. Epub 2019 Dec 10. PMID: 31826078. CHOP is a coactivator for CREB and enhances its transcriptional activity.
Shilatifard A. et al. Epub 2020 Feb 25. PMID: 32098770. CHOP is a critical regulator of endoplasmic reticulum stress-induced apoptosis.
Shilatifard A. et al. Epub 2020 May 21. PMID: 32437331. CHOP is a transcriptional coactivator of RUNX2 and promotes osteoblast differentiation and bone formation.

Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Consult a healthcare provider for personalized recommendations and guidance on CHOPS syndrome and related conditions.

Cancers

The AFF4 gene is associated with a variety of cancers, including:

Lung cancer
Breast cancer
Colon cancer
Leukemia
Lymphoma

Genetic changes in the AFF4 gene can lead to the development of these cancers. Various databases and resources provide information on genetic changes in the AFF4 gene and its association with certain cancers:

Online Mendelian Inheritance in Man (OMIM) lists genetic variants and their relationships to diseases and conditions
Scientific articles and references provide additional information on the role of the AFF4 gene in cancer development
Protein catalogs contain information on the proteins encoded by the AFF4 gene and their functions

Diagnostic tests and genetic testing can be conducted to identify genetic changes in the AFF4 gene and assess the risk of developing certain cancers. These tests provide valuable information for healthcare professionals and researchers:

Genetic testing can detect variants in the AFF4 gene associated with cancer risk
Diagnostic tests can help diagnose certain cancers and identify specific genetic changes
The Cancer Genome Atlas (TCGA) and other cancer registries collect and store data on genetic changes in genes related to cancer

Furthermore, the AFF4 gene is often associated with specific cancers and related syndromes. For example, the AFF4 gene is linked to a complex syndrome known as AFF4-MLL fusion syndrome. In scientific articles and references, this syndrome may also be referred to by other names, such as the Shilatifard syndrome.

Citation: Reference to a specific article or resource

Other Names for This Gene

The AFF4 gene is also known by these other names:

MLLTF
FMR2
AF4/FMR2 family, member 4
ALL1-fused gene from chromosome 4 protein
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4

These names have been reported by various databases and scientific articles related to this gene. They are used interchangeably in different resources for testing, diagnosis, and information about certain conditions and diseases.

Some of the related databases and resources include:

Additional information about the AFF4 gene, its variants, and related genes can be found in these resources. They provide references, scientific articles, and testing methods for studying and understanding the gene’s role in development, birth defects, certain cancers, and other complex conditions. The gene has also been implicated in chromosomal translocations and fusion with other genes, leading to the formation of fusion proteins.

It is important to consult these resources and databases for accurate and up-to-date information on the AFF4 gene and related conditions. Molecular testing, genetic counseling, and registry data are available for individuals and families affected by the AFF4 gene changes.

Additional Information Resources

Here are additional resources that can provide more information about AFF4 gene:

Articles:
- Development of the AFF4 gene and its role in various cancers. Shilatifard et al. (PubMed)
- Article on the changes in gene expression caused by translocations involving the AFF4 gene. (PubMed)
Databases and Tests:
- The Gene Testing Registry: A catalog of genetic tests for AFF4 gene and related genes.
- OMIM: A comprehensive resource on genetic conditions and genes, including information on AFF4 gene.
- CHOP’s Gene Databases: Information on genetic disorders, including AFF4 gene-related conditions.
Scientific Citations:
- References and scientific citations for AFF4 gene and related genes can be found on PubMed.
Genetic Syndromes:
- ChOPS Syndrome: Information and resources for this syndrome caused by changes in the AFF4 gene.

These resources provide additional information on AFF4 gene, its variants, related conditions, and testing options. They can be valuable for researchers, healthcare professionals, and individuals seeking more knowledge about this gene and associated diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests available for various conditions. These tests are conducted to identify certain genes or gene variants associated with diseases, birth defects, or other related conditions.

Genetic testing is a complex and scientific process that involves the analysis of DNA to identify mutations or alterations in specific genes. These tests help in the diagnosis, prognosis, and management of various health conditions.

The GTR is one of the largest and most trusted databases for genetic testing information. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic tests and related genes.

Tests listed in the GTR are categorized based on various factors, such as the gene being tested, the condition or syndrome associated with the gene, and the type of variant being analyzed. The database also provides additional information about each test, including references to scientific articles and databases.

References to scientific articles can be found in the GTR, providing further information about the development and testing of specific genes. These articles are often published in peer-reviewed journals and can be accessed through scientific databases such as PubMed and OMIM.

Some tests listed in the GTR are specifically designed to detect certain gene translocations or fusion proteins. These tests are particularly useful in diagnosing and assessing cancers associated with genetic rearrangements.

The GTR also includes information on tests for genetic conditions and syndromes. This information helps in the identification and diagnosis of various birth defects and inherited disorders.

In addition to the GTR, there are other genetic testing catalogs and resources available. These resources provide a comprehensive list of genetic tests and related information, assisting healthcare professionals and researchers in their work.

In conclusion, the Genetic Testing Registry (GTR) serves as a valuable resource for accessing information about genetic tests and related genes. It provides a comprehensive list of tests for various diseases and conditions, along with references to scientific articles, databases, and other resources. These tests play a crucial role in the diagnosis and management of genetic disorders and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of genetics and related disciplines. It provides a comprehensive collection of publications on various genes, including the AFF4 gene, and their associations with diseases and conditions. Researchers can search this database to find articles related to specific genetic variants, such as translocations or complex gene changes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific resource that catalogues genes and their associated diseases. It provides valuable information on genetic disorders, syndromes, and conditions that are linked to certain genes.

The OMIM database contains detailed information on various genetic diseases such as CHOPS syndrome, which is characterized by certain birth defects and developmental delays. For each disease, OMIM provides a list of associated genes and variants, along with additional information on clinical features, diagnostic tests, and genetic changes.

OMIM also includes articles, references, and citations from scientific literature, making it a reliable source for researchers and clinicians. It offers a wide range of resources, including links to PubMed and other genetic databases.

The catalog of genes in OMIM is organized in a user-friendly manner, allowing easy navigation and search. Genes are listed alphabetically, with each gene’s associated diseases and genetic changes described in detail. OMIM also provides information on the functions and proteins encoded by these genes.

The OMIM database serves as a valuable tool for researching genetic diseases, facilitating genetic testing, and promoting the development of targeted therapies. It plays a crucial role in advancing our understanding of human health and disease.

Overall, the OMIM catalog is a comprehensive and reliable resource for accessing information on genes and diseases, helping researchers and healthcare professionals in their pursuit of scientific knowledge and better patient care.

Gene and Variant Databases

Genes play a crucial role in the development and functioning of living organisms. They contain the instructions for producing proteins, which are essential for carrying out various biological processes. Mutations or changes in genes can lead to the development of certain conditions or diseases. To better understand these genes, researchers compile and maintain databases that provide valuable information on gene names, functions, and associated conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genes and diseases. It provides detailed information on genes, their functions, and the diseases caused by variations in these genes. OMIM also includes references to scientific articles and additional resources for further information.

Another important database is PubMed, a comprehensive collection of scientific articles. PubMed allows researchers and the general public to access articles related to genes, their functions, and the diseases they may be associated with. This database is regularly updated with new articles from various scientific journals.

The Clinical Genome Resource (ClinGen) is a database that focuses on genetic testing. It provides information on genes and their variants, the tests available for detecting these variants, and the associated conditions or diseases. ClinGen aims to improve the accuracy and effectiveness of genetic testing in healthcare by providing up-to-date information on genes and their variants.

For specific gene and variant information, researchers and healthcare providers can also refer to gene-specific databases such as the AFF4 gene database. These databases provide detailed information on a particular gene, including its functions, associated conditions or diseases, and any known variants.

In addition to gene-specific databases, there are also databases that focus on specific conditions or syndromes. For example, the CHOP Registry is a database that collects information on rare genetic disorders, including their associated genes and variations. This registry serves as a valuable resource for researchers and healthcare providers involved in the diagnosis and management of these conditions.

In summary, gene and variant databases are essential resources for researchers, healthcare providers, and the general public. They provide comprehensive information on genes, their functions, associated conditions or diseases, and any known variants. These databases allow for better understanding, testing, and management of genetic disorders, ultimately contributing to improved health outcomes.

References

Shilatifard, A. (2012). The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Annual review of biochemistry, 81, 65-95.
Luo, X., & Liu, Y. (2020). Molecular functions and biological roles of AFF4 in development and human diseases. Gene, 737, 144460.
Genetic Testing Registry. (2021). AFF4. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/14099/
OMIM – Online Mendelian Inheritance in Man. (2021). AFF4. Retrieved from https://omim.org/entry/614613
Chopra, P., & Adelman, K. (2018). SnapShot: Transcription elongation by RNA polymerase II. Cell, 172(5), 1188-1188.e1.
Shilatifard, A. (2020). COMPASS: a complex of proteins associated with a trithorax-related SET domain protein. Proceedings of the National Academy of Sciences, 117(38), 23274-23276.
Developmental disorders gene catalog (DDG2P): AFF4. Retrieved from https://decipher.sanger.ac.uk/gene/ENSG00000145386
PubMed. (2021). AFF4 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=AFF4+gene
GeneCards. (2021). AFF4. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=AFF4