ipaQTL-atlas: an atlas of intronic polyadenylation quantitative trait loci across human tissues. 2023

Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
Institute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518055, China.

Functional interpretation of disease-associated non-coding variants remains a significant challenge in the post-GWAS era. Our recent study has identified 3'UTR alternative polyadenylation (APA) quantitative trait loci (3'aQTLs) and connects APA events with QTLs as a major driver of human traits and diseases. Besides 3'UTR, APA events can also occur in intron regions, and increasing evidence has connected intronic polyadenylation with disease risk. However, systematic investigation of the roles of intronic polyadenylation in human diseases remained challenging due to the lack of a comprehensive database across a variety of human tissues. Here, we developed ipaQTL-atlas (http://bioinfo.szbl.ac.cn/ipaQTL) as the first comprehensive portal for intronic polyadenylation. The ipaQTL-atlas is based on the analysis of 15 170 RNA-seq data from 838 individuals across 49 Genotype-Tissue Expression (GTEx v8) tissues and contains ∼0.98 million SNPs associated with intronic APA events. It provides an interface for ipaQTLs search, genome browser, boxplots, and data download, as well as the visualization of GWAS and ipaQTL colocalization results. ipaQTL-atlas provides a one-stop portal to access intronic polyadenylation information and could significantly advance the discovery of APA-associated disease susceptibility genes.

UI MeSH Term Description Entries
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001271 Atlases as Topic Works about collections of illustrative plates and charts.. Atlases as Topics
D020413 3' Untranslated Regions The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences. 3'UTR,3' UTR,3' Untranslated Region,3' UTRs,3'UTRs,Region, 3' Untranslated,Regions, 3' Untranslated,UTR, 3',UTRs, 3',Untranslated Region, 3',Untranslated Regions, 3'
D020869 Gene Expression Profiling The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell. Gene Expression Analysis,Gene Expression Pattern Analysis,Transcript Expression Analysis,Transcriptome Profiling,Transcriptomics,mRNA Differential Display,Gene Expression Monitoring,Transcriptome Analysis,Analyses, Gene Expression,Analyses, Transcript Expression,Analyses, Transcriptome,Analysis, Gene Expression,Analysis, Transcript Expression,Analysis, Transcriptome,Differential Display, mRNA,Differential Displays, mRNA,Expression Analyses, Gene,Expression Analysis, Gene,Gene Expression Analyses,Gene Expression Monitorings,Gene Expression Profilings,Monitoring, Gene Expression,Monitorings, Gene Expression,Profiling, Gene Expression,Profiling, Transcriptome,Profilings, Gene Expression,Profilings, Transcriptome,Transcript Expression Analyses,Transcriptome Analyses,Transcriptome Profilings,mRNA Differential Displays
D026723 Polyadenylation The addition of a tail of polyadenylic acid (POLY A) to the 3' end of mRNA (RNA, MESSENGER). Polyadenylation involves recognizing the processing site signal, (AAUAAA), and cleaving of the mRNA to create a 3' OH terminal end to which poly A polymerase (POLYNUCLEOTIDE ADENYLYLTRANSFERASE) adds 60-200 adenylate residues. The 3' end processing of some messenger RNAs, such as histone mRNA, is carried out by a different process that does not include the addition of poly A as described here. Polyadenylations
D040641 Quantitative Trait Loci Genetic loci associated with a quantitative trait. Quantitative Trait Loci Genes,Loci, Quantitative Trait,Locus, Quantitative Trait,Quantitative Trait Locus,Trait Loci, Quantitative,Trait Locus, Quantitative

Related Publications

Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
January 2022, Nucleic acids research,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
July 2021, Nature genetics,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
July 2023, International journal of cancer,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
October 2025, medRxiv : the preprint server for health sciences,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
February 2021, Nature communications,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
June 2016, BMC bioinformatics,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
January 2020, Nucleic acids research,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
June 2025, Genetics,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
November 2025, American journal of human genetics,
Xuelian Ma, and Shumin Cheng, and Ruofan Ding, and Zhaozhao Zhao, and XuDong Zou, and Shouhong Guang, and Qixuan Wang, and Huan Jing, and Chen Yu, and Ting Ni, and Lei Li
August 1999, Genetics,
Copied contents to your clipboard!