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COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe...
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Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites
Among alternative splicing events in the human transcriptome, tandem NAGNAG acceptor splice sites represent an appreciable proportion. Both proximal...
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In Vivo Evaluation of Exon 51 Skip** in hDMD/Dmd-null Mice
Duchenne muscular dystrophy (DMD) is a fatal X-linked condition that affects 1 in 3500–6000 newborn boys a year. An out-of-frame mutation in the DMD...
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Exon and intron sharing in opposite direction-an undocumented phenomenon in human genome-between Pou5f1 and Tcf19 genes
BackgroundOverlap** genes share same genomic regions in parallel (sense) or anti-parallel (anti-sense) orientations. These gene pairs seem to occur...
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Exon-1 skip** and intron-1 retaining by alternative splicing of the c-KIT gene encodes a novel splice variant in the skin of Merino sheep (Ovis aries)
c -KIT , a type III receptor protein tyrosine kinase , plays an essential role in melanocyte development, migration, and survival. Mutations within the c
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A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa
Splicing disruption is one type of mutation mechanism for disease-predisposing alleles. To date, less than 30 mutations in TTC8/BBS8 have been...
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Transcription directionality is licensed by Integrator at active human promoters
A universal characteristic of eukaryotic transcription is that the promoter recruits RNA polymerase II (RNAPII) to produce both precursor mRNAs...
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Repetitive DNA sequence detection and its role in the human genome
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and regulating gene expression. In this review, we...
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PD-L1 lncRNA splice isoform promotes lung adenocarcinoma progression via enhancing c-Myc activity
BackgroundAlthough using a blockade of programmed death-ligand 1 (PD-L1) to enhance T cell immune responses shows great promise in tumor...
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SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families
BackgroundAutosomal recessive corneal hereditary endothelial dystrophy (CHED) is a rare congenital disorder of cornea. Mutations in SLC4A11 gene are...
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Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy
BackgroundSynonymous variations have always been ignored while studying the underlying genetic mechanisms for most of the human diseases. However,...
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Structural similarity of human papillomavirus E4 and polyomaviral VP4 exhibited by genomic analysis of the common kestrel (Falco tinnunculus) polyomavirus
Polyomaviruses are widely distributed viruses of birds that may induce developmental deformities and internal organ disorders primarily in nestlings....
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Computational approaches and challenges in the analysis of circRNA data
Circular RNAs (circRNA) are a class of non-coding RNA, forming a single-stranded covalently closed loop structure generated via back-splicing....
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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father
Ornithine transcarbamylase deficiency is an X-linked disease with a wide range of clinical severity and manifestation age both in males and females....
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Improved analysis of (e)CLIP data with RCRUNCH yields a compendium of RNA-binding protein binding sites and motifs
We present RCRUNCH, an end-to-end solution to CLIP data analysis for identification of binding sites and sequence specificity of RNA-binding...
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Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder
Arginase deficiency is an autosomal recessive urea cycle disorder caused by pathogenic variants in the ARG1 gene. The clinical features of the...
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The RNA Atlas expands the catalog of human non-coding RNAs
Existing compendia of non-coding RNA (ncRNA) are incomplete, in part because they are derived almost exclusively from small and polyadenylated RNAs....
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Comparative Genome Annotation
Newly sequenced genomes are being added to the tree of life at an unprecedented fast pace. A large proportion of such new genomes are...
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In silico methods for predicting functional synonymous variants
Single nucleotide variants (SNVs) contribute to human genomic diversity. Synonymous SNVs are previously considered to be “silent,” but mounting...
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Unique features of conventional and nonconventional introns in Euglena gracilis
BackgroundNuclear introns in Euglenida have been understudied. This study aimed to investigate nuclear introns in Euglenida by identifying a large...
