medullary thyroid carcinomasplice site variantthyroidIntroduction: Medullary thyroid carcinoma (MTC) is an aggressive cancer that is often caused by driver mutations in RET. Splice site variants (SSV) reflect changes in mRNA processing, which may alter protein function. RET SSVs have been described ...
re-analyses showed we had missed 300K-RNA Top-4 events for several clinical cases tested before the development of this empirical predictive method. Simply, mis-splicing events that happen around a splice site in RNA-seq data are those most likely to be activated by a splice-site variant. ...
. The intron splice site variant skipped exon 6, causing a frameshift mutation that resulted in a PTC. The SPAST gene encodes spastin and has an open reading frame with two start codons, leading to the synthesis of two different spastin isoforms, M1 (68 kDa) and M87 (60 kDa); M87 ...
3. Web site. v.t. 4. to place in or provide with a site; locate. 5. to put in position for operation, as artillery. [1350–1400; Middle English < Latin situs position, site (presumably orig., leaving) =si-, variant s. of sinere to leave, let + -tus suffix of v. actio...
splice variant 1.active mRNA that results from cutting and resealing or a RNA transcript by precise breakage of phosphodiester bonds at the 5' and 3' splice sites (exon-intron junction); 2.a recombinant DNA molecule derived from cutting and resealing of DNA from different sources. ...
BMC Medical Genomics (2022) 15:163 https://doi.org/10.1186/s12920-022-01315-8 RESEARCH Open Access A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family Qiong Li†, Shujuan Wang†, Pengfei...
In silico analyses clearly validated that the splice site variant has a strong impact on the normal splicing pattern of the gene, as expected for DNA changes involving -1 and -2 bases of intron acceptor sequences. HeLa cells transfection using mini-gene constructs bearing this change and its ...
Splice site variant alleles can also exhibit diminished enzyme activity; by modifying the way in which introns are assembled, the resulting transcript is radically changed, as is the expressed protein. Allelic variation in the regulatory region of a gene can change the transcription level of that ...
Medical Acronyms Idioms Encyclopedia Wikipedia </>embed</> intertwist interlace entwine plait yoke interweave intertwine braid mesh splice Synonyms for splice Collins WordNet verbjoin Synonyms join unite graft marry wed knit mesh braid intertwine ...
have used simple CNNs, named DeepSplice, to analyze the GENCODE24 data for splice variant detection with 96.1% accuracy25. Another simple CNN approach proposed by Zuallaert et al. (SpliceRover) has also achieved up to 96% accuracy on different datasets of prior research26. Wang et al. ...