检测编号：SS0700188

服务项目

境象生物为您提供TRRAP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
TRRAP	transformation/transcription domain-associated protein	7q21.2-q22.1	72	约12677 bp
基因摘要	This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011].

相关文献

1. Alakus H et al, Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin., Genome medicine;6(5):43, 2014, PubMed Link
2. Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 2014, PubMed Link
3. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
4. Brastianos PK et al, Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas., Nature genetics;46(2):161-5, 2014, PubMed Link
5. Bruno A et al, Mutational analysis of primary central nervous system lymphoma., Oncotarget;5(13):5065-75, 2014, PubMed Link