simplify.education

Genomic locus / reference annotation · BEGINNER LESSON

LOC105376001

LOC105376001 is a database-style identifier for a genomic locus, meaning a specific place or labeled entry in a genome record. In the supplied sources, there is not enough direct evidence to assign a precise gene product or biological function to this symbol.

What it is and what is measured

A genomic locus is a named position or record in DNA-based reference data. For such entries, scientists may measure where the sequence sits in the genome, whether extra copies are present, and whether any open reading frame (ORF) is translated. An ORF is a stretch of sequence that could be read into a protein. A noncoding ORF, or ncORF, is an ORF found in sequence regions not previously treated as protein-coding. The provided excerpts show two kinds of evidence nearby: a copy-number gain at 15q26.1-26.3 in ClinVar, and an expanded catalog of translated ncORFs in human reference annotation.[1][2]

[2] GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 AND ... [3] An expanded reference catalog of translated open reading frames ...

How the evidence is built

Copy-number gain means there are extra DNA copies compared with the usual amount. In the ClinVar excerpt, the variant is described as a gain at a defined cytogenetic location, which is a chromosome-band address used to report where a change lies.[1] Separately, the ncORF source explains that researchers compiled a larger reference set of translated ncORFs by adding more datasets and relaxing earlier limits on ORF length and start codon choice.[2] That kind of catalog does not prove function by itself; it records evidence that a sequence can be translated.

[2] GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 AND ... [3] An expanded reference catalog of translated open reading frames ...

What the sources do and do not show

The PubMed home-page excerpt only shows that PubMed is a large citation index for biomedical literature, not a result about this locus itself.[0] The ClinVar excerpt provides one pathogenic classification for a specific copy-number gain, but that classification is for the variant region, not a direct statement about LOC105376001.[1] The ncORF paper provides a broader framework for judging translation evidence in human reference annotation, but it does not specifically identify LOC105376001 in the snippet we were given.[2] So the safest conclusion is that the symbol is a genomic entry with limited direct functional evidence in these excerpts.

[1] PubMed.gov [2] GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 AND ... [3] An expanded reference catalog of translated open reading frames ...

SEE THE IDEA

Evidence around a genomic locus

The locus is described by its position and by evidence from variation or translation studies, but those are different kinds of information.

A genomic label can be connected to structural variation and translation evidence, yet neither alone proves a specific biological role.

TRY IT YOURSELF

Test your understanding

Choose an answer, then check the explanation.

0 of 3 questions answered
01 What is the best description of the measurable evidence mentioned in the sources?
02 A researcher finds an ORF in a region once thought noncoding and adds it to a reference catalog because translation evidence exists. What is being measured?
03 Which scenario fits the ClinVar excerpt most closely?

PUT IT TOGETHER

Match each concept to its meaning

Drag a label onto its description, or select a label and then select a description. This also works with a keyboard.

Sources and further reading

This general lesson was generated from public source material. It explains a concept; it does not interpret a private paper or provide medical advice.

  1. PubMed.gov
  2. GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 AND ...
  3. An expanded reference catalog of translated open reading frames ...
Apply this to a paper →