检测编号：SS0750419

服务项目

境象生物为您提供RNF43基因的突变检测服务。

样本要求

新鲜或石蜡包埋的病理组织样本（≥100mg组织）

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称	基因全名	基因位置	外显子个数	CDS长度
RNF43	ring finger protein 43	17q22	10	约5746 bp
基因摘要	The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].

相关文献

1. Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 2014, PubMed Link
2. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
3. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
4. Lee SY et al, Comparative genomic analysis of primary and synchronous metastatic colorectal cancers., PloS one;9(3):e90459, 2014, PubMed Link
5. Mouradov D et al, Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer., Cancer research;74(12):3238-47, 2014, PubMed Link