Searching across hundreds of databases
More than 100,000 human genetic variations have been described in various genes that are associated with a wide variety of diseases. Such data provides invaluable information for both clinical medicine and basic science. A number of locus-specific databases have been developed to exploit this huge amount of data. However, the scope, format and content of these databases differ strongly and as no standard for variation databases has yet been adopted, the way data is presented varies enormously. This review aims to give an overview of current resources for human variation data in public and commercial resources.
Pubmed ID: 20639550 RIS Download
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Portal of GEN2PHEN project, holistic approach to genotype-to-phenotype data. Aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality.
View all literature mentionsCurated database of known (published) gene lesions responsible for human inherited disease.
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Database to store and display somatic mutation information and related details and contains information relating to human cancers. The mutation data and associated information is extracted from the primary literature. In order to provide a consistent view of the data a histology and tissue ontology has been created and all mutations are mapped to a single version of each gene. The data can be queried by tissue, histology or gene and displayed as a graph, as a table or exported in various formats.
Some key features of COSMIC are:
* Contains information on publications, samples and mutations. Includes samples which have been found to be negative for mutations during screening therefore enabling frequency data to be calculated for mutations in different genes in different cancer types.
* Samples entered include benign neoplasms and other benign proliferations, in situ and invasive tumours, recurrences, metastases and cancer cell lines.
IDbases are locus-specific databases for immunodeficiency-causing mutations. Our aim is to establish database for every immunodeficiency or provide links to those maintained elsewhere. IDbases contain in addition to gene mutation, also information about clinical presentation. Information has been collected from literature as well as received directly from researchers. It would be most glad if those analyzing mutations would send their information by using the interactive web submission available in each database. A number of articles have been published related to IDbases. IDbases are curated and distributed with proprietary MUTbase software suite.
View all literature mentionsThe NTP is an interagency program whose mission is to evaluate agents of public health concern by developing and applying tools of modern toxicology and molecular biology. The program maintains an objective, science-based approach in dealing with critical issues in toxicology and is committed to using the best science available to prioritize, design, conduct, and interpret its studies. To that end, the NTP is continually evolving to remain at the cutting edge of scientific research and to develop and apply new technologies. More than 80,000 chemicals are registered for use in the United States. Each year, an estimated 2,000 new ones are introduced for use in such everyday items as foods, personal care products, prescription drugs, household cleaners, and lawn care products. We do not know the effects of many of these chemicals on our health, yet we may be exposed to them while manufacturing, distributing, using, and disposing of them or when they become pollutants in our air, water, or soil. Relatively few chemicals are thought to pose a significant risk to human health. However, safeguarding public health depends on identifying both what the effects of these chemicals are and at what levels of exposure they may become hazardous to humansthat is, understanding their toxicology. The program was created as a cooperative effort to: 1. Coordinate toxicology testing programs within the federal government. 2. Strengthen the science base in toxicology. 3. Develop and validate improved testing methods. 4. Provide information about potentially toxic chemicals to health, regulatory, and research agencies, scientific and medical communities, and the public. The need for a program like the NTP arose because of increasing scientific, regulatory, and Congressional concerns about the human health effects of chemical agents in our environment. Many human diseases were thought to be directly or indirectly related to chemical exposures; therefore, it was thought that decreasing or eliminating human exposures to those chemicals would help prevent some human disease and disability. Testing Information The NTP is an interagency program whose mission is to evaluate agents of public health concern by developing and applying the tools of modern toxicology and molecular biology. This involves conducting toxicological evaluations of substances of public health concern, developing and validating improved (sensitive, specific, rapid) testing methods, developing approaches and generating data to strengthen the science base for risk assessment, and communicating with all stakeholders. The NTP plays a critical role in providing needed scientific data, interpretations, and guidance concerning the appropriate uses of data to regulatory agencies and other groups involved with health-related research. Through its interactive relationship with regulatory agencies, the NTP plays an indirect, but important role in shaping public health policy. Study Data Searches The National Toxicology Program makes available data from more than 500 two-year, two species, toxicology and carcinogenesis studies collected by the NTP and its predecessor, the National Cancer Institute's Carcinogenesis Testing Program, are stored in a database at NIEHS. The NTP database also contains the results collected on approximately 300 toxicity studies from shorter duration tests and from genetic toxicity studies, which includes both in vitro and in vivo tests. In addition, test data from the immunotoxicity, developmental toxicity and reproductive toxicity studies are continually being added to this database. Partnerships Through relationships with regulatory agencies, the NTP has an indirect role in shaping public health policy. Federal and state government agencies rely on the scientific knowledge and its interpretation provided by the NTP to make credible decisions that protect public health and the environment. The NTP also plays a critical role in: 1. Fostering interagency collaborations in research and exposure assessment 2. Providing information to regulatory agencies about alternative methods for toxicity testing, interpretation 3. Exploring new technologies for evaluating how environmental agents cause disease NTP conferences and workshops provide an opportunity for researchers, regulatory, policy makers, and the public to examine issues together, exchange information, and reach agreement on future directions of toxicology and risk assessment. Postdoctoral Training Program Opportunities Applied Toxicology and Carcinogenesis Training Program Fellowship in Toxicological Pathology Fellowship in Laboratory Animal Medicine
View all literature mentionsTHIS RESOURCE IS NO LONGER IN SERVICE, documented August 22, 2016. A multi-country collaboration among scientists and funding agencies to develop a public resource where genetic similarities and differences in human beings are identified and catalogued. Using this information, researchers will be able to find genes that affect health, disease, and individual responses to medications and environmental factors. All of the information generated by the Project will be released into the public domain. Their goal is to compare the genetic sequences of different individuals to identify chromosomal regions where genetic variants are shared. Public and private organizations in six countries are participating in the International HapMap Project. Data generated by the Project can be downloaded with minimal constraints. HapMap project related data, software, and documentation include: bulk data on genotypes, frequencies, LD data, phasing data, allocated SNPs, recombination rates and hotspots, SNP assays, Perlegen amplicons, raw data, inferred genotypes, and mitochondrial and chrY haplogroups; Generic Genome Browser software; protocols and information on assay design, genotyping and other protocols used in the project; and documentation of samples/individuals and the XML format used in the project.
View all literature mentionsProject exploring the spectrum of genomic changes involved in more than 20 types of human cancer that provides a platform for researchers to search, download, and analyze data sets generated. As a pilot project it confirmed that an atlas of changes could be created for specific cancer types. It also showed that a national network of research and technology teams working on distinct but related projects could pool the results of their efforts, create an economy of scale and develop an infrastructure for making the data publicly accessible. Its success committed resources to collect and characterize more than 20 additional tumor types. Components of the TCGA Research Network: * Biospecimen Core Resource (BCR); Tissue samples are carefully cataloged, processed, checked for quality and stored, complete with important medical information about the patient. * Genome Characterization Centers (GCCs); Several technologies will be used to analyze genomic changes involved in cancer. The genomic changes that are identified will be further studied by the Genome Sequencing Centers. * Genome Sequencing Centers (GSCs); High-throughput Genome Sequencing Centers will identify the changes in DNA sequences that are associated with specific types of cancer. * Proteome Characterization Centers (PCCs); The centers, a component of NCI's Clinical Proteomic Tumor Analysis Consortium, will ascertain and analyze the total proteomic content of a subset of TCGA samples. * Data Coordinating Center (DCC); The information that is generated by TCGA will be centrally managed at the DCC and entered into the TCGA Data Portal and Cancer Genomics Hub as it becomes available. Centralization of data facilitates data transfer between the network and the research community, and makes data analysis more efficient. The DCC manages the TCGA Data Portal. * Cancer Genomics Hub (CGHub); Lower level sequence data will be deposited into a secure repository. This database stores cancer genome sequences and alignments. * Genome Data Analysis Centers (GDACs) - Immense amounts of data from array and second-generation sequencing technologies must be integrated across thousands of samples. These centers will provide novel informatics tools to the entire research community to facilitate broader use of TCGA data. TCGA is actively developing a network of collaborators who are able to provide samples that are collected retrospectively (tissues that had already been collected and stored) or prospectively (tissues that will be collected in the future).
View all literature mentionsThe UMD-BRCA1/BRCA2 databases have been set up in a joined national effort through the network of 16 diagnostic laboratories to provide up-to-date information about mutations of the BRCA1 and BRCA2 genes identified in patients with breast and/or ovarian cancer. These databases currently contain published and unpublished information about the BRCA1/BRCA2 mutations reported in French diagnostic laboratories. This database includes 28 references and 5530 mutations (1440 different mutations and 786 protein variants) The databases of BRCA1 and BRCA2 mutations were built using the Universal Mutation Database tool. For each mutation, information is provided at several levels: * at the gene level: exon and codon number, wild type and mutant codon, mutation event, mutation name and, * at the protein level: wild type and mutant amino acid, binding domain, affected domain. If you want to submit a mutation, please contact R. Lidereau., S. Caputo. or E. Rouleau.
View all literature mentionsIL2Rgbase is a database of mutations in the X-linked gene IL2RG, leading to the autoimmune disease XSCID. Data on mutations in any of the eight exons may be retrieved and examined, as well as intervening sequences.
View all literature mentionsThe database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Home Information Mutations Models References Links Submit Contact Us Help Collaborators NEWS !! SEP 2009 The database has now been recovered. Please report any bugs that you notice. NEWS !! MAY 2009 We have suffered from a complete server failure this month but these issues have been sorted out and work is being carried out to restore all the data within our FH-HUS database. Sorry for any inconvenience this may have caused. NEWS !! JAN 2007 Mutations within complement Factor B have also been associated with aHUS. (Goicoechea de Jorge et al., 2007) NEW !! Nov 2006 FH-HUS Database Version 2.1 The database has now been updated to include ALL mutations found in HUS patients, including those in Factor I(FI) and Membrane (MCP). Homology models are available for the domains of FI and MCP and all analysis previously available for Factor H (FH) are now also available for FI and MCP. All SNP records for FH, FI and MCP are also now included in the database on the SNP pages. Only those SNPs within coding regions will be included in the full list of mutations and within the advanced search. For more information on the different versions of the database click here. We have also redesigned the site in order to display information more clearly. Please let us know what you think of the new design. Quick Search Enter Codon No : Choose Protein : Advanced Search Have you or someone you know been diagnosed with aHUS? The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals. Here are several links for patient information on aHUS: http://renux.dmed.ed.ac.uk/ http://en.wikipedia.org/ http://kidney.niddk.nih.gov http://www.webmd.com HUS HUS (Haemolytic Uraemic Syndrome) is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. A subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor H gene. To read information on HUS click here. To read information on Factor H (FH) click here. FH Mutations There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database. There are also 5 mutations within FH that are associated with MPGN patients. . Following HGVS guidelines, mutations are numbered starting from the ATG initiation codon and include the 18-residue signal peptide. The number of the codon with respect to the mature FH protein and consistent with the RSCB PDB entry for secreted FH (1haq.pdb) is shown alongside in parenthesis. Type I and Type II Phenotype Type I indicates that the mutant protein is either absent from the plasma or present in lower amounts. This indicates the mutation has a structural effect on the mutant protein - ie reducing the stability Type II indicates that the mutant protein is present in normal amounts in plasma. This indicates that the mutation has a functional effect on the protein ie affecting substrate binding References There are three references you can use to reference this database Saunders et al, 2007. The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. Hum Mutat. 2007 28:222-234. Saunders et al, 2006. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006 27:21-30. Saunders & Perkins, 2006. A user''s guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. Semin Thromb Hemost. 2006 32:160-8. Abstract. BACKGROUND: cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions. PATIENTS: Two sisters aged 6 and 8.5 years presented with a latent hemolytic process characterized by undetectable or low plasma haptoglobin, respectively, associated with renal failure and gross proteinuria. Renal biopsies performed in both patients found typical findings of thrombotic microangiopathy suggesting the diagnosis of HUS. Both patients were free of neurologic signs. RESULTS: Biochemical investigations found a cobalamin processing deficiency of the cblC type. Search for additional factors susceptible to worsen endothelial damage revealed homozygosity 677C--> T mutation in the methylenetetrahydrofolate reductase gene as well as heterozygosity for a 3254T--> C mutation in factor H in the patient with the most severe clinical presentation. Long-term subcutaneous administration of hydroxocobalamin in combination with oral betaine and folic acid resulted in clinical and biological improvement in both patients. CONCLUSION: cblC disease may be a cause of chronic HUS with delayed onset in childhood. Superimposed mutation of factor H gene might influence clinical severity.
View all literature mentionsA mutation registry for X-linked agammaglobulinemia (XLA). BTKbase lists mutation entries of 1,111 patients from 973 unrelated families showing 602 unique molecular events. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and is associated with a failure of Ig heavy chain rearrangement. Two thirds of cases are familial, and one third of cases are believed to arise from new mutations. Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia. The localization of the mutations on the gene and protein for BTK can be analyzed by clicking sequences on the web pages. It includes a mutation browser, which gives users access to mutations in Bruton tyrosine kinase (BTK) protein sequences, and XLA fact file, and forms for users to submit mutation to the dataset.
View all literature mentionsPublicly available database of summary level findings from genetic association studies in humans, including genome wide association studies (GWAS). Previously named HGBASE, HGVbase and HGVbaseG2P.
View all literature mentionsThe SciCrunch Infrastructure was developed as a cooperative data platform to be used by diverse communities in making data more FAIR.
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