Understanding V(D)J recombination initiator XXXX gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

@entity1 @entity12656 @entity4334
The recombination-activating genes (RAGs) encode for V(D)J recombinases responsible for rearrangements of antigen-receptor genes during T and B cell development, and RAG expression is known to correlate strictly with the process of rearrangement. There have been several studies of @entity12656 illustrating biochemical, physiological and immunological properties. Hitherto, there are limited studies on @entity12656 focusing molecular phylogenetic analyses, evolutionary traits, and genetic variants in @entity1 populations. Hence, there is a need of a comprehensive study on this topic. In the current report, we have shed light into insights of evolutionary traits and genetic variants of @entity1 @entity12656 gene using 1092 genomes from @entity1 populations. Syntenic analyses revealed that two RAG genes are physically linked and conserved on the same locus in head-to-head orientation from sea urchin to @entity1 for about 550 MY. Spliceosomal introns have been in invaded in fishes and sea urchin, whereas gene structures of @entity12656 gene from tetrapods remained single exon architecture. We compiled 751 genetic variants in @entity1 @entity12656 gene using 1092 @entity1 genomes; where major stockholders of variant classes are 79% single nucleotide polymorphisms (SNPs), 12.2% somatic single @entity4334 variants (somatic SNVs) and 6.8% deletion. Out of 267 missense variants, 140 are deleterious mutations. We identified 284 non-coding variants with 94% regulatory in nature.
