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Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries ...
and open reading frames were predicted using TransDecoder v 5.5.092. To calculate ratios of the rates of non-synonymous and synonymous substitutions (dN/dS) from protein-coding regions, sequences were then translated
This hybrid database of PacBio-derived and GENCODE entries, called PacBio-Hybrid, is composed of 35,119 PacBio-derived protein entries from 6653 genes, and 48,413 GENCODE protein entries for the remaining 13,276 protein-coding genes (Additional file 1: Fig. S3a). PacBio-derived protein ...
3). Protein interactions are facilitated by binding to the Q-region but more frequently by the GOLD domain. Proteins with C-terminal GOLD domains regularly contain N-terminal lipid binding domains as found in ACBD3 and may function as double-headed adaptors connecting a protein and a lipid ...
From a functional point-of-view, the linker may include every region that connects two parts of the protein that functionally interact. In a three-domain protein, the middle domain may be considered part of the linker from the perspective of first and last domain. Case studies show that ...
End predicted coding region. If no genomic coordinates are given (if you provide a CLUSTAL W as input) the first nucleotide position in the references sequence is set to 1, otherwise the positions are the 1-based genomic coordinates as given in the input MAF file. 9. Score The coding ...
Non-coding RNA in neurodegeneration When the Human Genome Project started in 1990, it was estimated that 30,000–40,000 protein coding genes would be found in the human genome [211]. When the project was completed in 2001, researchers were surprised to find far fewer protein coding genes tha...
Changes in coding regions can lead to insertion/deletion/substitution of amino acid residues in the encoded proteins and thereby bring about differences in the constituent functional/structural motifs; such changes in a protein can alter its binding properties (e.g. in terms of the binding ...
(Supplementary Fig.3). However, translation of the major coding region of a group of transcripts is insensitive to EIF2S1 phosphorylation and increased translation can be observed under stress conditions. This is thought to mostly depend on upstream open reading frames (uORFs) and often involves ...