網(wǎng)址:http://m6avar.renlab.org
開發(fā)團隊:中山大學(xué)超級計算機學(xué)院的任間教授
參考文獻: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:
人類基因組的單核苷酸變異(single nucleotide variants,SNVs)位點數(shù)量龐大,尋找其中真正的致病位點仍然是遺傳學(xué)研究中的一項重要挑戰(zhàn)。最近, N6-甲基胞嘧啶(m6A)修飾在許多基本生物過程和各種疾病中的關(guān)鍵作用被揭示,已經(jīng)成為一個研究熱點。因此,評估變異對m6A修飾的影響至關(guān)重要。m6Avar數(shù)據(jù)庫由中山大學(xué)超級計算機學(xué)院的任間教授團隊開發(fā),是可能影響m6A修飾的m6A相關(guān)變異綜合數(shù)據(jù)庫,它將通過m6A修飾的功能來解釋變異的功能。m6A相關(guān)變異來源于3種不同的m6A資源,包括miCLIP/PA-m6A-seq實驗(高可信度),MeRIP-Seq實驗(中可信度)和全轉(zhuǎn)錄組預(yù)測(低可信度)。數(shù)據(jù)庫同時也整合了與變異相關(guān)的RBP結(jié)合區(qū),miRNA-靶點和剪接位點以幫助用戶研究m6A相關(guān)變異對轉(zhuǎn)錄后調(diào)控的影響,為進一步的功能研究提供了很多可以挖掘的資源。同時,該數(shù)據(jù)庫還整合了來自全基因組關(guān)聯(lián)研究( genome-wide association studies (GWAS)和ClinVar的數(shù)據(jù),所以m6AVar也是研究m6A相關(guān)變異和疾病間的關(guān)系的一種有用資源。
圖:m6AVar數(shù)據(jù)庫的內(nèi)容構(gòu)架
數(shù)據(jù)總覽:
m6AVar數(shù)據(jù)庫收集了來源于dbSNP和TCGA的百萬個位點信息, 成千上萬的有實驗證據(jù)的m6A修飾位點信息(來源于7個m6A 單核苷酸分辨率交聯(lián)與免疫沉淀(miCLIP)實驗數(shù)據(jù),2個 PA-m6A-Seq實驗數(shù)據(jù)和244個MeRIP-Seq實驗數(shù)據(jù)),以及大量的預(yù)測m6A位點數(shù)據(jù)。目前,m6Avar數(shù)據(jù)庫注釋了414,241個 m6A相關(guān)變異位點,包括dbSNP 來源的352,014 m6A-associated germline mutations和TCGA來源的 62,227 m6A-associated somatic mutations.
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高血壓疾病的搜索結(jié)果展示(可以設(shè)計關(guān)聯(lián)研究或者功能驗證文章):
基于m6AVar數(shù)據(jù)庫的“SNP-m6A-疾病”關(guān)聯(lián)研究文章
● Genome-Wide Identification of N-Methyladenosine (mA) SNPs Associated With Rheumatoid Arthritis.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 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.
影響因子: 4.315 PMID:31425724
● Putative functional SNPs in SLC22A3 and H3F3B might influence the development of CAD by regulating the lipid levels.
影響因子: 3.266 PMID:29894858 期刊年卷:Thromb. Res. 2018 08;168