检测编号：SS0710483

服务项目

境象生物为您提供SMARCA4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
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19p13.2	36	约5580 bp
基因摘要	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].

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. 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
3. Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 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. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link