检测编号：SS0690236

服务项目

境象生物为您提供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
	myeloid/lymphoid or mixed-lineage leukemia 2	12q13.12		约 bp
基因摘要	The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]. CCDS Note: The full-length exon combination of this CCDS representation is inferred. It is mostly supported by the mRNA AF010403.1, but with correction of a gap in exon 10-11, supported by the mRNA AF010404.1, and by EST, RNA-Seq and orthologous transcript alignments.

相关文献

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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. Behjati S et al, Recurrent PTPRB and PLCG1 mutations in angiosarcoma., Nature genetics;46(4):376-9, 2014, PubMed Link
5. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link