PMID- 32421816 OWN - NLM STAT- MEDLINE DCOM- 20201007 LR - 20240427 IS - 1362-4962 (Electronic) IS - 0305-1048 (Print) IS - 0305-1048 (Linking) VI - 48 IP - W1 DP - 2020 Jul 2 TI - FGviewer: an online visualization tool for functional features of human fusion genes. PG - W313-W320 LID - 10.1093/nar/gkaa364 [doi] AB - Among the diverse location of the breakpoints (BPs) of structural variants (SVs), the breakpoints of fusion genes (FGs) are located in the gene bodies. This broken gene context provided the aberrant functional clues to study disease genesis. Many tumorigenic fusion genes have retained or lost functional or regulatory domains and these features impacted tumorigenesis. Full annotation of fusion genes aided by the visualization tool based on two gene bodies will be helpful to study the functional aspect of fusion genes. To date, a specialized tool with effective visualization of the functional features of fusion genes is not available. In this study, we built FGviewer, a tool for visualizing functional features of human fusion genes, which is available at https://ccsmweb.uth.edu/FGviewer. FGviewer gets the input of fusion gene symbols, breakpoint information, or structural variants from whole-genome sequence (WGS) data. For any combination of gene pairs/breakpoints to be involved in fusion genes, the users can search the functional/regulatory aspect of the fusion gene in the three bio-molecular levels (DNA-, RNA-, and protein-levels) and one clinical level (pathogenic-level). FGviewer will be a unique online tool in disease research communities. CI - (c) The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research. FAU - Kim, Pora AU - Kim P AD - School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. FAU - Yiya, Ke AU - Yiya K AD - College of Electronic and Information Engineering, Tongji University, Shanghai, China. FAU - Zhou, Xiaobo AU - Zhou X AD - School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. AD - McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. AD - School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. LA - eng GR - R01 CA241930/CA/NCI NIH HHS/United States GR - R01 GM123037/GM/NIGMS NIH HHS/United States GR - R35 GM138184/GM/NIGMS NIH HHS/United States GR - U01 AR069395/AR/NIAMS NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PL - England TA - Nucleic Acids Res JT - Nucleic acids research JID - 0411011 RN - 0 (Transcription Factors) SB - IM MH - Amino Acid Sequence MH - Computer Graphics MH - Disease/genetics MH - *Gene Fusion MH - Humans MH - *Software MH - Transcription Factors/metabolism MH - Whole Genome Sequencing PMC - PMC7319540 EDAT- 2020/05/19 06:00 MHDA- 2020/10/08 06:00 PMCR- 2020/05/18 CRDT- 2020/05/19 06:00 PHST- 2020/04/27 00:00 [accepted] PHST- 2020/04/17 00:00 [revised] PHST- 2020/03/16 00:00 [received] PHST- 2020/05/19 06:00 [pubmed] PHST- 2020/10/08 06:00 [medline] PHST- 2020/05/19 06:00 [entrez] PHST- 2020/05/18 00:00 [pmc-release] AID - 5838863 [pii] AID - gkaa364 [pii] AID - 10.1093/nar/gkaa364 [doi] PST - ppublish SO - Nucleic Acids Res. 2020 Jul 2;48(W1):W313-W320. doi: 10.1093/nar/gkaa364.