About the database

The AIP MUTATION DATABASE addresses both professionals and non-professionals who are dealing with PAP and FIPA syndromes on a clinical, diagnostic and research level. Both original and extracted data from published papers are present in this database. The information provided here may be of special value if the clinical consequences of a newly identified variant need to be interpreted.

Variants are reported according to the GRCh37/hg19 assembly of the human genome and the reference sequence used is the AIP Locus Reference Genomic (http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_460.xml). Variants nomenclature has been checked with Mutalyzer 2.0.beta-21 (http://www.lovd.nl/mutalyzer/) in order to comply with the Human Genome Variation Nomenclature.

Data in the ‘Pathogenicity’ column is estimated based on available genetic, clinical and experimental data and represents the curators’ opinion. Five different categories are used in this column: “mutation associated with disease” and “polymorphism not causing disease” are reported when there are sufficient clinical and/or experimental data to exclude/assert with high confidence the pathogenicity of the variant, respectively; “unlikely pathogenic” and “likely pathogenic” estimate the pathogenicity of the variant based on available in silico predictions [performed with PONP (Pathogenic-or-Not-Pipeline) and Alamut v2.2 (Interactive Biosoftware) softwares], in vitro studies, allele frequencies (we considered unlikely pathogenic variants with a MAF equal or more than 1% but less than 5%), presence in controls or in sporadic vs. familial patients, and LOH data; “unknown” was reported whenever there is no sufficient data, in our opinion, for a variant to be assessed for its pathogenicity.

Curators

Dr Giampaolo Trivellin   giampaolo.trivellin@gmail.com

Dr Serban Radian               s.radian@qmul.ac.uk

Dr Mary Dang   mary.dang@nhs.net

Prof Márta Korbonits      m.korbonits@qmul.ac.uk

 

Copyright and Disclaimer

This website has been designed to provide with access to an AIP Mutations Database (‘Database’), which is maintained by FIPA Patients, a charity group located at Barts And The London Medical School.

FIPA Patients has intellectual property rights on the Database. It authorises you to access and use any data/information contained in the Database for research, academic and [non-commercial] purposes only. You acknowledge that your access and use of the database is solely for the above purposes and that you will give appropriate credit to the database by citing it whenever data extrapolated from it will be published. Any unauthorised use, copying, storage or distribution of the contents of the Database without written permission from FIPA Patients can lead to the infringement of its copyright and/or database rights with possible ensuing litigation. Copyright © 2012. All Rights Reserved.

For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of rights in databases.

FIPA Patients have used all reasonable efforts to ensure that the information contained in the Database is complete, accurate and useful. ALL INFORMATION PROVIDED IN THE DATABASE IS PROVIDED "AS-IS" WITHOUT WARRANTY OF ANY KIND. For avoidance of doubt, FIPA Patients makes no warranty, express or implied, as to the accuracy of the information or that it is fit for a particular purpose, and will not be held responsible, directly or indirectly, for any consequences arising out of any inaccuracies or omissions regarding that information. Individuals, organisations and companies which use the Database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon FIPA Patients or any of its employees/affiliates for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

In case you submit any information (including any scientific, personal or feedback data) in any form related to the Database, this information shall not be deemed to be confidential.  FIPA Patients shall have no obligation of any kind whatsoever with respect to that information and shall, without limitation, be free to incorporate it in the Database, as well as, retain, reproduce, use, disclose or distribute it to others for any lawful commercial or non-commercial purposes.

FIPA Patients also reserves the right to alter the contents/arrangement of the Database in any way, at any time and for any reason, with or without prior notification, and will not be liable in any way for possible consequences of such changes or for inaccuracies, typographical errors or omissions in respect thereof.

BY USING THIS WEBSITE, YOU ACKNOWLEDGE AND AGREE THAT YOU HAVE READ, UNDERSTOOD AND AGREED TO THESE TERMS OF USE.

Database Policy 

The AIP MUTATION DATABASE hosted at the Queen Mary University of London (QMUL) and available at http://aip.fipapatients.org is maintained and provided as a public service for the academic community.

Individuals submitting data to and using the database should be aware of the following:

1. QMUL has a policy of free and unrestricted access for academic community to all data records present in the database. Scientists worldwide can freely access these records in order to plan experiments, publish analyses or critiques, or helping in genetic counselling. However, for security reasons data submission is only permitted after free registration. Appropriate credit is given by citing the database. Instructions to do so are provided in the “References” section of the database.

2. The AIP MUTATION DATABASE is intellectual property of QMUL. Details for Copyright and Liability are provided in the “Copyright and Disclaimer” section of the database.

3. The report of mistakes and the update of records by authors are welcome and encouraged and erroneous records will be removed in the next database release.

4. Submitters are advised that the information displayed on the database is fully disclosed to the public. It is the responsibility of the submitters to ascertain that they have the right to submit the data. This includes the appropriate informed consent from the patient and/or family.

5. Beyond limited editorial control and some internal integrity checks, the quality and accuracy of the submitted records are the responsibility of the submitters, not of the database curators. The database curators will work with submitters and users of the database to achieve the best quality resource possible.

6. Data in the AIP MUTATION DATABASE may be shared with central repositories according to published Human Genome Variation Society (HGVS) guidelines.

7. The information provided on this database is designed to support, not replace, the relationship existing between a patient/site visitor and his/her physician.

8. We keep the confidentiality of the data relating to individual patients and visitors to the database, including their identity. No data is collected that would allow identification of the patients for whom information is stored and distributed in the database. We do not share any information about database visitors with third parties. As database curators and owners we undertake to comply the legal requirements of medical/health information privacy that apply in the United Kingdom (UK Data Protection Act, 1998).

9. The database does not host any advertisements.

FAQ

  • Do I need to register to access the database content?

No, the access and export of all the information present in the database is completely free. 

  • Are my registration data securely protected?

The username and password information necessary to login to the online submission form are securely stored by a Secure Sockets Layer (SSL) protocol implemented in the server hosting the database.

  • Is the patients’ information present in the database completely anonymised?

Yes, we do not host personal information on the database. All the data are anonymised and so it would not be possible to identify patients for whom information is stored and distributed in the database. For more information please refer to the “Copyright and Disclaimer” and “Database Policy” sections.

Contact us

 AIP LSDB

Department of Endocrinology

Barts and The London School of Medicine and Dentistry

Queen Mary University of London

Charterhouse Square

LONDON EC1M 6BQ

UNITED KINGDOM

Phone: 44 (0)207 882 8284

Fax: 44 (0)207 882 6197

email: aip_lsdb@fipapatients.org

 

About the software
The database software has been built using MOLGENIS (Swertz and Jansen, 2007; Swertz et al., 2010), a collaborative open source project on a mission to generate great software for life science research. MOLGENIS is being developed and maintained by the Genomics Coordination Center (GCC), a rapidly growing bioinformatics group of 25 researchers, programmers and system managers at the University of Groningen, University Medical Center Groningen, Dept of Genetics, lead by Prof.dr. Morris Swertz.

More information is available at http://www.molgenis.org, the project can be found on https://github.com/molgenis .

Please contact Morris Swertz, m.a.swertz@rug.nl if you need assistance.