Gene summary

Let’s look more in depth at the figure on the gene summary view (Figure 10). 

Summary. The official gene name is displayed at the top, along with other names and symbols the gene is known by in other major databases, such as RefSeq and Uniprot. For human genes, the official gene name comes from the HGNC (HUGO Gene Nomenclature Committee).

There is also information about the gene biotype and how the gene was annotated.

BRCA2 Transcripts. All transcripts in the region are displayed. In this screenshot, the gold and red transcripts are protein coding whilst blue and grey transcripts are non-coding. The gold transcripts indicate a Havana/Ensembl merge and gold transcripts can be coding and non-coding. In this case, BRCA2-201 is gold, indicating the sequence is agreed on by both projects. A help page explains the colours more in-depth.

Transcript structure. Boxes are exons, and connecting lines are introns. Filled boxes indicate coding sequence, while unfilled boxes are UTR (UnTranslated Regions).

For example, the transcript above is gold, showing it’s a protein coding transcript (Havana/Ensembl merge). It has 27 exons. Some exons have filled and unfilled regions, meaning these exons contain coding sequence and UTR. The introns are lines between the exons.

Transcripts drawn above the blue bar (genome) are on the forward strand of the chromosome (like BRCA2), and transcripts drawn underneath (like the neighbouring N4BP2L transcripts, [B]) are on the reverse strand of the chromosome.

Export image. To export the image in a variety of formats (including Pdf), click the image icon.