检测编号：SS0700184
服务项目
境象生物为您提供TSC2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 |
| TSC2 |
tuberous sclerosis 2 |
16p13.3 |
42 |
约5632 bp |
| 基因摘要 |
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. |
相关文献
- Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 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
- Gerlinger M et al, Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing., Nature genetics;46(3):225-33, 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