The Genes page provides a searchable reference catalogue of genome gene annotations.
Use this page to look up a gene’s reference identifier, genomic coordinates, gene type, strand, and available constraint information. It is particularly useful when searching by gene or region in the Sequoia Portal.
Search for a gene
Use the search field to find a gene by its gene name or reference gene ID.
[Screenshot 1: Red box around the “Search by gene name or ID” field and “Search” button.]
For example, search using:
- A gene symbol, such as
APOE,PCSK9, orBRCA1 - A reference gene ID, such as an Ensembl Gene ID
A gene name may have multiple reference entries. Always check the gene ID and genomic location to confirm that you have selected the correct record.
View gene annotations
The Genes table displays available reference annotations.
[Screenshot 2: Use the full Genes table. Add a red box around the table headers.]
The visible columns include:
- Gene Name — The gene symbol or name
- Gene ID — The unique reference gene identifier
- Gene Type — The annotated biotype, such as protein-coding gene, rRNA, or pseudogene
- Chr — The chromosome
- Start — The genomic start position
- End — The genomic end position
- Strand — The genomic strand, shown as
+or- - pLI — A gene-level loss-of-function constraint metric, where available
Understand genomic coordinates
The Start and End fields define the gene’s location on the displayed chromosome.
The Strand field shows the orientation of the annotated gene:
+— Forward strand-— Reverse strand
[Screenshot 3: Highlight the Chr, Start, End, and Strand columns.]
Use these coordinates to confirm the correct locus when working with gene- or region-based analyses.
Filter gene records
Select Advanced Filters to refine the gene list using available gene properties.
[Screenshot 4: Red box around the “Advanced Filters” button.]
For example, use filters to narrow records by chromosome, gene type, coordinate range, or other configured annotation fields.
Configure visible columns
Select Columns to choose which gene annotations are displayed in the table.
[Screenshot 5: Red box around the “Columns” button.]
This is helpful when you want to focus on a subset of information, such as genomic location, gene type, or constraint metrics.
Sort the table
Select a sort icon in a column heading to sort gene records.
[Screenshot 6: Highlight sort icons in the Gene Name, Chr, Start, End, and pLI columns.]
For example, sort by chromosome and start position when reviewing genes within a genomic region.
Open record actions
Select the three-dot menu at the end of a gene row to view available record actions.
[Screenshot 7: Red box around a row’s three-dot menu.]
Available actions depend on the portal configuration and your access permissions.
Tips
- Use the Gene ID and coordinates to distinguish entries with the same or similar gene names.
- Check the Gene Type before interpreting a record as a protein-coding gene.
- Use the chromosome and coordinate fields to confirm the locus before running a region-based query.
- A missing pLI value does not indicate that a gene is unimportant; the metric may not be applicable or available for that gene type.