Welcome to the TALS data exploration Shiny Application
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in RNU4ATAC, the gene transcribed into the minor spliceosomal U4atac snRNA, are responsible for a rare autosomal recessive disorder named microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) or Taybi-Linder syndrome (TALS). RNU4ATAC is also involved in different and less severe developmental diseases, Roifman (RFMN) and Lowry-Wood (LWS) syndromes.
To gain knowledge on minor splicing and analyse U2 and U12 gene transcripts in TALS patients, we performed the first RNA-seq experiment on cells derived from three different types of biosamples, five skin, three amniotic fluid and one blood, obtained from seven unrelated TALS cases.
This Shiny Interface allows to explore the results presented in Cologne et al (2019) paper. Complete results of the different transcriptomic analysis are available: mutltivariate analysis (PCA), differential expression with DESeq2 and splicing analysis with 3 different tools (IRFinder, KisSplice and Vast-Tools).
Author
Clara Benoit-Pilven - clara.benoit-pilven@helsinki.fi - Institute for Molecular Medicine – Helsinki - Finland
Citation
COLOGNE A, BENOIT-PILVEN C, BESSON A, PUTOUX A, CAMPAN-FOURNIER A, BOBER MB, DE DIE-SMULDERS CEM, PAULUSSEN ADC, PINSON L, TOUTAIN, ROIFMAN CM, LEUTENEGGER AL, MAZOYER S, EDERY P and LACROIX V (2019) New insights into minor splicing – A transcriptomic analysis of cells derived from TALS patients. Manuscript submitted for publication.
Principal component analysis (PCA)
Plots presented here are results from PCA analysis done with ade4 R package.The first step is to choose a dataset.
Description of the chosen comparison:
Expression analysis
Table and plots presented here are results from DESeq2 analysis on RNAseq data from TALS patients and controls paired for age and sexe.The first step is to choose a dataset.
Description of the chosen comparison:
Intron retention analysis with IRFinder
Table and plots presented here are results from IRFinder analysis on RNAseq data from TALS patients and controls paired for age and sexe.The first step is to choose a dataset.
Description of the chosen comparison:
Alternative splicing analysis with KisSplice
Table and plots presented here are results from KisSplice analysis on RNAseq data from TALS patients and controls paired for age and sexe.The first step is to choose a dataset.
Description of the chosen comparison:
Alternative splicing analysis with Vast-Tools
Table and plots presented here are results from Vast-Tools analysis on RNAseq data from TALS patients and controls paired for age and sexe.The first step is to choose a dataset.