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开发团队:中山大学超级计算机学院的任间教授
参考文献:zheng yy, nie p, peng d, he zh, liu mn, xie yb, miao yy, zuo zx* and ren j*. m6avar: a database of functional variants involved in m6a modification.nucleic acids research. 2018; 46(d1): d139-145.
摘要:
人类基因组的单核苷酸变异(single nucleotide variants,snvs)位点数量庞大,寻找其中真正的致病位点仍然是遗传学研究中的一项重要挑战。最近, n6-甲基胞嘧啶(m6a)修饰在许多基本生物过程和各种疾病中的关键作用被揭示,已经成为一个研究热点。因此,评估变异对m6a修饰的影响至关重要。m6avar数据库由中山大学超级计算机学院的任间教授团队开发,是可能影响m6a修饰的m6a相关变异综合数据库,它将通过m6a修饰的功能来解释变异的功能。m6a相关变异来源于3种不同的m6a资源,包括miclip/pa-m6a-seq实验(高可信度),merip-seq实验(中可信度)和全转录组预测(低可信度)。数据库同时也整合了与变异相关的rbp结合区,mirna-靶点和剪接位点以帮助用户研究m6a相关变异对转录后调控的影响,为进一步的功能研究提供了很多可以挖掘的资源。同时,该数据库还整合了来自全基因组关联研究( genome-wide association studies (gwas)和clinvar的数据,所以m6avar也是研究m6a相关变异和疾病间的关系的一种有用资源。
图:m6avar数据库的内容构架
数据总览:
m6avar数据库收集了来源于dbsnp和tcga的百万个位点信息, 成千上万的有实验证据的m6a修饰位点信息(来源于7个m6a 单核苷酸分辨率交联与免疫沉淀(miclip)实验数据,2个 pa-m6a-seq实验数据和244个merip-seq实验数据),以及大量的预测m6a位点数据。目前,m6avar数据库注释了414,241个 m6a相关变异位点,包括dbsnp 来源的352,014 m6a-associated germline mutations和tcga来源的 62,227 m6a-associated somatic mutations.
输入页面
高血压疾病的搜索结果展示(可以设计关联研究或者功能验证文章):
基于m6avar数据库的“snp-m6a-疾病”关联研究文章
● genome-wide identification of n-methyladenosine (ma) snps associated with rheumatoid arthritis.
影响因子: 4.154 pmid:30123242 期刊年卷:front genet 2018;9
● detection of ma-associated snps as potential functional variants for coronary artery disease.
影响因子: 5 pmid:30221544 期刊年卷:epigenomics 2018 10;10(10)
● genome-wide identification of ma-associated snps as potential functional variants for bone mineral density.
影响因子: 3.819 pmid:29980810 期刊年卷:osteoporos int 2018 sep;29(9)
● genome-wide enrichment of ma-associated single-nucleotide polymorphisms in the lipid loci.
影响因子: 3.503 pmid:30262821 期刊年卷:pharmacogenomics j. 2019 aug;19(4)
● associations among nppa gene polymorphisms, serum anp levels, and hypertension in the chinese han population.
影响因子: 1.935 pmid:31341238 期刊年卷:j hum hypertens 2019 sep;33(9)
l● examination of the associations between ma-associated single-nucleotide polymorphisms and blood pressure.
影响因子: 3.217 pmid:31175347 期刊年卷:hypertens. res. 2019 oct;42(10) doi:10.1038/s41440-019-0277-8
● detection of putative functional single nucleotide polymorphisms in blood pressure loci and validation of association between single nucleotide polymorphism in wbp1l and hypertension in the chinese han population.
影响因子: 2.371 pmid:30422892 期刊年卷:j. cardiovasc. pharmacol. 2019 jan;73(1)
● in silico genome-wide identification of m6a-associated snps as potential functional variants for periodontitis.
影响因子: 4.522 pmid:31245852 期刊年卷:j. cell. physiol. 2019 jun 27;
●l integrating genome-wide association study and methylation functional annotation data identified candidate genes and pathways for schizophrenia.
影响因子: 4.315 pmid:31425724
● putative functional snps in slc22a3 and h3f3b might influence the development of cad by regulating the lipid levels.
影响因子: 3.266 pmid:29894858 期刊年卷:thromb. res. 2018 08;168