TumorFusions: an integrative resource for cancer-associated transcript fusions

被引：170

作者：

Hu, Xin ^{[1
,2
]}

Wang, Qianghu ^{[1
,3
]}

Tang, Ming ^{[1
]}

Barthel, Floris ^{[4
]}

Amin, Samirkumar ^{[4
]}

Yoshihara, Kosuke ^{[5
]}

Lang, Frederick M. ^{[1
]}

Martinez-Ledesma, Emmanuel ^{[6
]}

Lee, Soo Hyun ^{[1
]}

Zheng, Siyuan ^{[1
,6
]}

Verhaak, Roel G. W. ^{[4
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Genom Med, Houston, TX 77030 USA

[2] Univ Texas Houston, Grad Sch Biomed Sci, Program Bioinformat & Biostat, Houston, TX 77030 USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USA

[4] Jackson Lab Genom Medr, Farmington, CT 06032 USA

[5] Niigata Univ, Dept Obstet & Gynecol, Grad Sch Med & Dent Sci, Niigata 9518510, Japan

[6] Univ Texas MD Anderson Canc Ctr, Dept Neurooncol, Houston, TX 77030 USA

来源：

NUCLEIC ACIDS RESEARCH | 2018年 / 46卷 / D1期

基金：

美国国家卫生研究院;

关键词：

GENE FUSIONS; HEPATOCELLULAR-CARCINOMA; GENOMIC CHARACTERIZATION; SYSTEMATIC ANALYSIS; GLIOBLASTOMA; LANDSCAPE; DRIVERS; TRIALS; FGFR;

D O I：

10.1093/nar/gkx1018

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Gene fusion represents a class of molecular aberrations in cancer and has been exploited for therapeutic purposes. In this paper we describe TumorFusions, a data portal that catalogues 20 731 gene fusions detected in 9966 well characterized cancer samples and 648 normal specimens from The Cancer Genome Atlas (TCGA). The portal spans 33 cancer types in TCGA. Fusion transcripts were identified via a uniform pipeline, including filtering against a list of 3838 transcript fusions detected in a panel of 648 non-neoplastic samples. Fusions were mapped to somatic DNA rearrangements identified using whole genome sequencing data from 561 cancer samples as a means of validation. We observed that 65% of transcript fusions were associated with a chromosomal alteration, which is annotated in the portal. Other features of the portal include links to SNP array-based copy number levels and mutational patterns, exon and transcript level expressions of the partner genes, and a network-based centrality score for prioritizing functional fusions.

引用

页码：D1144 / D1149

页数：6

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