The Curate Gene Table provides a searchable and sortable list of all genes stored in your organization’s Curate database. This feature helps you quickly review, search, and filter curated genes.
Columns
Gene: Gene symbol
Type: Gene type (e.g., protein-coding, ncRNA, pseudogene)
Strand: Strand orientation of the gene
All columns support alphabetical sorting for easy navigation.
Search bar
Search for genes by gene symbol, HGNC ID, or NCBI ID.
Tip: To search by HGNC or NCBI ID, enter the relevant ID directly (no prefix or suffix required). The search will return genes where the HGNC or NCBI ID matches the entered value.
Search for the gene using its symbol, NCBI ID, or HGNC ID
Click Add
Curate Gene page
The Top bar lists:
Gene symbol
Curate Genes overview
The Curate Genes page consists of:
(left)
—lists your curated genes (center)
—highlights the most clinically relevant gene information (right)
DNA strand orientation
Gene type
Clickable HGNC ID (links to HGNC)
Clickable NCBI ID (links to NCBI Gene)
The Gene Information card features:
Official full gene name approved by the HGNC
Alias symbols
Location relative to GRCh37 and GRCh38 (with links to UCSC Genome Browser)
Gene type
Gene family
The Interpretation card features:
The Curated tab to be used for your curated gene interpretation. This text can be reused in the Variant Interpretation notes or Gene interpretation notes within a case
The Note tab for your draft notes on the gene
Note: to edit your notes, select the tab (Curated or Note), and press the Edit button. Edit the text and apply the formatting. Don't forget to click Save!
The Transcript card includes:
Canonical transcript
Exon count
Organization preferred transcript
A dropdown list featuring all known transcripts. This is where you can select a preferred transcript to be used in case analysis instead of the default one. The organization's preferred transcript is indicated by a star icon, while the canonical transcript is marked by a checkmark icon
A Copy button to conveniently copy transcript details to your clipboard
The Gene Metrics card displays gene metrics from ExAC, gnomAD and ClinGen that assess the potential pathogenic impact of gene alterations:
RVIS - Residual variation intolerance score
p(LoF intolerant) - Probability of loss of function intolerance
p(REC) - Probability of being intolerant to homozygous, but not heterozygous LoF variants
O/E score - Ratio of the observed/expected number of LoF variants
HI - Haploinsufficiency
TS - Triplosensitivity
Z missense - Intolerance to missense variants based on the deviation of observed missense variants versus the expected number
The Variants summary card features:
A percent bar that illustrates trends in previous Pathogenicity classification
A table summarizing Pathogenicity and severity across variants in the gene that have been previously added to Curate in a table view
A link to See Related Variants
The RefSeq Summary card showcases:
Gene summary sourced from RefSeq
A link to the respective NCBI Gene page
A convenient Copy button for quick data retrieval
The Gene's related diseases card includes:
The number of gene-associated diseases sourced from OMIM, ORPHANET, CGD, ClinVar, and academic papers incorporated in Emedgene knowledge graph
The list of Gene's Related Diseases with links to data sources
Icons representing inheritance modes, when available
An expandable condition summary from Uniprot (accessible via dropdown) along with a link to Uniprot and a copy button for convenient data extraction
Activities panel
The Activities panel records a history of user activities on the Curate Variant page. Click on the Activities button to open it.
