检测编号：SS0610166
服务项目
境象生物为您提供RUNX1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 |
| RUNX1 |
runt-related transcription factor 1 |
21q22.3 |
9 |
约5967 bp |
| 基因摘要 |
Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
相关文献
- Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
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- Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
- Herold T et al, Isolated trisomy 13 defines a genetically homogenous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis., Blood;124(8):1304-11, 2014, PubMed Link
- Li M et al, Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway., Nature genetics;46(8):872-6, 2014, PubMed Link