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The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases
Author(s) -
Szeverenyi Ildiko,
Cassidy Andrew J.,
Chung Cheuk Wang,
Lee Bernett T.K.,
Common John E.A.,
Ogg Stephen C.,
Chen Huijia,
Sim Shu Yin,
Goh Walter L.P.,
Ng Kee Woei,
Simpson John A.,
Chee Li Lian,
Eng Goi Hui,
Li Bin,
Lunny Declan P.,
Chuon Danny,
Venkatesh Aparna,
Khoo Kian Hoe,
McLean W.H. Irwin,
Lim Yun Ping,
Lane E. Birgitte
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20652
Subject(s) - biology , sequence database , database , homology (biology) , genetics , gene , intermediate filament , sequence alignment , human genome , computational biology , bioinformatics , peptide sequence , genome , computer science , cytoskeleton , cell
We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy, premature aging syndromes, neurodegenerative disorders, and cataract. To date, the database catalogs 1,274 manually‐curated pathogenic sequence variants and 170 allelic variants in intermediate filament genes from over 459 peer‐reviewed research articles. Unrelated cases were collected from all of the six sequence homology groups and the sequence variations were described at cDNA and protein levels with links to the related diseases and reference articles. The mutations and polymorphisms are presented in parallel with data on protein structure, gene, and chromosomal location and basic information on associated diseases. Detailed statistics relating to the variants records in the database are displayed by homology group, mutation type, affected domain, associated diseases, and nucleic and amino acid substitutions. Multiple sequence alignment algorithms can be run from queries to determine DNA or protein sequence conservation. Literature sources can be interrogated within the database and external links are provided to public databases. The database is freely and publicly accessible online at www.interfil.org (last accessed 13 September 2007). Users can query the database by various keywords and the search results can be downloaded. It is anticipated that the Human Intermediate Filament Database (HIFD) will provide a useful resource to study human genome variations for basic scientists, clinicians, and students alike. Hum Mutat 29(3), 351–360, 2008. © 2007 Wiley‐Liss, Inc.