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Prot2HG: a database of protein domains mapped to the human genome

2020 Database: The Journal of Biological Databases and Curation  
Database URL: www.prot2hg.com.  ...  Figure 1 . 1 The process of protein domain mapping to human genome. (A) Data obtained from NCBI-data were downloaded  ...  To be able to determine whether specific human genetic variants fall onto annotated conserved protein domains might be helpful for studies of variant mapping in rare diseases, the global evaluation of  ... 
doi:10.1093/database/baz161 pmid:32293014 pmcid:PMC7157182 fatcat:fma7anr2dzafnjnjjme2im3wee

Broad misappropriation of developmental splicing profile by cancer in multiple organs [article]

Arashdeep Singh, Arati Rajeevan, Vishaka Gopalan, Piyush Agrawal, Chi-Ping Day, Sridhar Hannenhalli
2021 bioRxiv   pre-print
Our study provides the first comprehensive demonstration of a splicing-mediated link between development and cancer, and suggest novel targets including splicing events, splicing factors, and transcription  ...  Leveraging temporal transcriptomic data during development in multiple human organs, we demonstrate that the 'embryonic positive (EP)' alternative splicing events, specifically active during human organogenesis  ...  Protein domain enrichment in EP and EN exons We downloaded the transcriptomic coordinates of all the PFAM domains mapped to the reference genome (hg38) from the prot2hg database (http://www.prot2hg.com  ... 
doi:10.1101/2021.12.13.472504 fatcat:3ky6z5kb3veoth734dupnc4xoe

In heart failure reactivation of RNA-binding proteins drives the transcriptome into a fetal state [article]

Matteo D'Antonio, Jennifer P. Nguyen, Timothy D. Arthur, Hiroko Matsui, Margaret K.R. Donovan, Agnieszka D'Antonio-Chronowska, Kelly A. Frazer
2021 bioRxiv   pre-print
However, the underlying molecular mechanisms and the extent to which a fetal gene program switch occurs remains unclear.  ...  Of note, isoforms for 20 different RBPs were among those that reverted in heart failure to the fetal-like expression pattern.  ...  Ellinor and Mark Chaffin for sharing the adult scRNA-seq data prior to release (dbGaP phs001539).  ... 
doi:10.1101/2021.04.30.442191 fatcat:3ljj2e6yszap5azcs3b5nfeqv4

In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms

Matteo D'Antonio, Jennifer P Nguyen, Timothy D Arthur, Hiroko Matsui, Margaret K R Donovan, Agnieszka D'Antonio-Chronowska, Kelly A Frazer
2022
Comparison of the expression profiles revealed that reactivation of fetal-specific RBPs, and the accompanied re-expression of 1,523 fetal-specific isoforms, contribute to the transcriptome differences  ...  Reactivation of fetal-specific genes and isoforms occurs during heart failure. However, the underlying molecular mechanisms and the extent to which the fetal program switch occurs remains unclear.  ...  Ellinor and Mark Chaffin for sharing the adult scRNA-seq data prior to release (dbGaP phs001539).  ... 
doi:10.1371/journal.pcbi.1009918 pmid:35226669 pmcid:PMC8912908 fatcat:d2aui5quqzeohbzcbn6jzheuvm