检测编号：SS0840317

服务项目

境象生物为您提供CREBBP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
CREBBP	CREB binding protein	16p13.3	31	约10196 bp
基因摘要	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009].

相关文献

1. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
2. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
3. Fernandez-Cuesta L et al, Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids., Nature communications;5:3518, 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