检测编号：SS0610169
服务项目
境象生物为您提供UBR5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 |
| UBR5 |
ubiquitin protein ligase E3 component n-recognin 5 |
8q22 |
59 |
约10883 bp |
| 基因摘要 |
This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]. |
相关文献
- Arai E et al, Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome., International journal of cancer. Journal international du cancer;135(6):1330-42, 2014, PubMed Link
- Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
- Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link
- Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
- Kakiuchi M et al, Recurrent gain-of-function mutations of RHOA in diffuse-type gastric carcinoma., Nature genetics;46(6):583-7, 2014, PubMed Link