检测编号：SS0710489

服务项目

境象生物为您提供SETBP1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
SETBP1	SET binding protein 1	18q21.1	6	约9899 bp
基因摘要	This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011].

相关文献

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3. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
4. Gambacorti-Passerini CB et al, Recurrent ETNK1 mutations in atypical chronic myeloid leukemia., Blood;125(3):499-503, 2015, PubMed Link
5. Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link