| Title: | Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones |
| Authors: | Imanishi, Tadashi Browse this author |
| Itoh, Takeshi Browse this author |
| Suzuki, Yutaka Browse this author |
| O'Donovan, Claire Browse this author |
| Fukuchi, Satoshi Browse this author |
| Koyanagi, Kanako O. Browse this author |
| Barrero, Roberto A. Browse this author |
| Tamura, Takuro Browse this author |
| Yamaguchi-Kabata, Yumi Browse this author |
| Tanino, Motohiko Browse this author |
| Yura, Kei Browse this author |
| Miyazaki, Satoru Browse this author |
| Ikeo, Kazuho Browse this author |
| Homma, Keiichi Browse this author |
| Kasprzyk, Arek Browse this author |
| Nishikawa, Tetsuo Browse this author |
| Hirakawa, Mika Browse this author |
| Thierry-Mieg, Jean Browse this author |
| Thierry-Mieg, Danielle Browse this author |
| Ashurst, Jennifer Browse this author |
| Jia, Libin Browse this author |
| Nakao, Mitsuteru Browse this author |
| Thomas, Michael A. Browse this author |
| Mulder, Nicola Browse this author |
| Karavidopoulou, Youla Browse this author |
| Jin, Lihua Browse this author |
| Kim, Sangsoo Browse this author |
| Yasuda, Tomohiro Browse this author |
| Lenhard, Boris Browse this author |
| Eveno, Eric Browse this author |
| Suzuki, Yoshiyuki Browse this author |
| Yamasaki, Chisato Browse this author |
| Takeda, Jun-ichi Browse this author |
| Gough, Craig Browse this author |
| Hilton, Phillip Browse this author |
| Fujii, Yasuyuki Browse this author |
| Sakai, Hiroaki Browse this author |
| Tanaka, Susumu Browse this author |
| Amid, Clara Browse this author |
| Bellgard, Matthew Browse this author |
| Bonaldo, Maria de Fatima Browse this author |
| Bono, Hidemasa Browse this author |
| Bromberg, Susan K. Browse this author |
| Brookes, Anthony J. Browse this author |
| Bruford, Elspeth Browse this author |
| Carninci, Piero Browse this author |
| Chelala, Claude Browse this author |
| Couillault, Christine Browse this author |
| Souza, Sandro J. de Browse this author |
| Debily, Marie-Anne Browse this author |
| Devignes, Marie-Dominique Browse this author |
| Dubchak, Inna Browse this author |
| Endo, Toshinori Browse this author |
| Estreicher, Anne Browse this author |
| Eyras, Eduardo Browse this author |
| Fukami-Kobayashi, Kaoru Browse this author |
| R. Gopinath, Gopal Browse this author |
| Graudens, Esther Browse this author |
| Hahn, Yoonsoo Browse this author |
| Han, Michael Browse this author |
| Han, Ze-Guang Browse this author |
| Hanada, Kousuke Browse this author |
| Hanaoka, Hideki Browse this author |
| Harada, Erimi Browse this author |
| Hashimoto, Katsuyuki Browse this author |
| Hinz, Ursula Browse this author |
| Hirai, Momoki Browse this author |
| Hishiki, Teruyoshi Browse this author |
| Hopkinson, Ian Browse this author |
| Imbeaud, Sandrine Browse this author |
| Inoko, Hidetoshi Browse this author |
| Kanapin, Alexander Browse this author |
| Kaneko, Yayoi Browse this author |
| Kasukawa, Takeya Browse this author |
| Kelso, Janet Browse this author |
| Kersey, Paul Browse this author |
| Kikuno, Reiko Browse this author |
| Kimura, Kouichi Browse this author |
| Korn, Bernhard Browse this author |
| Kuryshev, Vladimir Browse this author |
| Makalowska, Izabela Browse this author |
| Makino, Takashi Browse this author |
| Mano, Shuhei Browse this author |
| Mariage-Samson, Regine Browse this author |
| Mashima, Jun Browse this author |
| Matsuda, Hideo Browse this author |
| Mewes, Hans-Werner Browse this author |
| Minoshima, Shinsei Browse this author |
| Nagai, Keiichi Browse this author |
| Nagasaki, Hideki Browse this author |
| Nagata, Naoki Browse this author |
| Nigam, Rajni Browse this author |
| Ogasawara, Osamu Browse this author |
| Ohara, Osamu Browse this author |
| Ohtsubo, Masafumi Browse this author |
| Okada, Norihiro Browse this author |
| Okido, Toshihisa Browse this author |
| Oota, Satoshi Browse this author |
| Ota, Motonori Browse this author |
| Ota, Toshio Browse this author |
| Otsuki, Tetsuji Browse this author |
| Piatier-Tonneau, Dominique Browse this author |
| Poustka, Annemarie Browse this author |
| Ren, Shuang-Xi Browse this author |
| Saitou, Naruya Browse this author |
| Sakai, Katsunaga Browse this author |
| Sakamoto, Shigetaka Browse this author |
| Sakate, Ryuichi Browse this author |
| Schupp, Ingo Browse this author |
| Servant, Florence Browse this author |
| Sherry, Stephen Browse this author |
| Shiba, Rie Browse this author |
| Shimizu, Nobuyoshi Browse this author |
| Shimoyama, Mary Browse this author |
| Simpson, Andrew J. Browse this author |
| Soares, Bento Browse this author |
| Steward, Charles Browse this author |
| Suwa, Makiko Browse this author |
| Suzuki, Mami Browse this author |
| Takahashi, Aiko Browse this author |
| Tamiya, Gen Browse this author |
| Tanaka, Hiroshi Browse this author |
| Taylor, Todd Browse this author |
| Terwilliger, Joseph D. Browse this author |
| Unneberg, Per Browse this author |
| Veeramachaneni, Vamsi Browse this author |
| Watanabe, Shinya Browse this author |
| Wilming, Laurens Browse this author |
| Yasuda, Norikazu Browse this author |
| Yoo, Hyang-Sook Browse this author |
| Stodolsky, Marvin Browse this author |
| Makalowski, Wojciech Browse this author |
| Go, Mitiko Browse this author |
| Nakai, Kenta Browse this author |
| Takagi, Toshihisa Browse this author |
| Kanehisa, Minoru Browse this author |
| Sakaki, Yoshiyuki Browse this author |
| Quackenbush, John Browse this author |
| Okazaki, Yasushi Browse this author |
| Hayashizaki, Yoshihide Browse this author |
| Hide, Winston Browse this author |
| Chakraborty, Ranajit Browse this author |
| Nishikawa, Ken Browse this author |
| Sugawara, Hideaki Browse this author |
| Tateno, Yoshio Browse this author |
| Chen, Zhu Browse this author |
| Oishi, Michio Browse this author |
| Tonellato, Peter Browse this author |
| Apweiler, Rolf Browse this author |
| Okubo, Kousaku Browse this author |
| Wagner, Lukas Browse this author |
| Wiemann, Stefan Browse this author |
| Strausberg, Robert L. Browse this author |
| Isogai, Takao Browse this author |
| Auffray, Charles Browse this author |
| Nomura, Nobuo Browse this author |
| Gojobori, Takashi Browse this author |
| Sugano, Sumio Browse this author |
| Issue Date: | Jun-2004 |
| Publisher: | Public Library of Science |
| Journal Title: | PLoS Biology |
| Volume: | 2 |
| Issue: | 6 |
| Start Page: | 856 |
| End Page: | 875 |
| Publisher DOI: | 10.1371/journal.pbio.0020162 |
| Abstract: | The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates(1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for nonprotein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology. |
| Rights: | http://creativecommons.org/licenses/by/3.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/50044 |
| Appears in Collections: | 情報科学院・情報科学研究院 (Graduate School of Information Science and Technology / Faculty of Information Science and Technology) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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