LRG records

LRG records are created upon request for a region of the genome, usually a gene of interest. Each record contains a stable “fixed” section and a regularly updated “updatable” section:

The fixed section does not version or change over time. It includes:
  • Reference sequences
    • Genomic DNA sequence for the region of interest:
      • The RefSeqGene (NG) which matches the genome reference assembly (GRCh38) or a legacy sequence
    • Transcripts and proteins for reporting variants:
      • RefSeq transcript (NM) and protein (NP)
      • GENCODE transcript (ENST) to RefSeq transcript (NM) matches
      • Ideally only one transcript per locus
      • Only well-supported, community approved sequences
  • Exon numbering
    • Based on all exons in transcripts in the fixed section
    • Assigned 5’ to 3’ with overlapping exons from multiple transcripts differentiated by a letter suffix e.g. 2A/2B in LRG_5.
Other content is updated weekly with the most recent biological information:
  • Defined mappings between the LRG sequences and past and present genome reference assemblies, fixed patches and haplotypes.
    • Mismatches are highlighted with their position and predicted consequence.
  • Comments that summarise the relationship (sequence content and transcript structure) between LRG sequences and related transcripts from GENCODE (ENST) and RefSeq (NM)
  • Mappings to all known transcripts, proteins and overlapping genes in the LRG region provided by RefSeq and GENCODE
  • Relevant information provided by the community, such as legacy exon and amino acid numbering systems