# Curate Gene page

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-1dbc9fb80b0f0351ccf2f82018035dbcd4607be0%2Fcurate_gene_page_1_Curate%2Bgene%2Bpage.png?alt=media)

### **The Top bar lists:**

* Gene symbol
* DNA strand orientation
* Gene type
* Clickable HGNC ID (links to HGNC)
* Clickable NCBI ID (links to NCBI Gene)

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-86ef3ed3be9f11292be0749e87b66e8180dda752%2Fcurate_gene_page_2_image.png?alt=media)

### 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

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-66f2bb9160e6c6de6a73ea0a5974ae84f613aec2%2Fcurate_gene_page_3_image.png?alt=media)

### **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](https://help.connected.illumina.com/emedgene/emedgene-analyze-manual/variant_page/evidence_section) or Gene interpretation notes within a case
* The Note tab for your draft notes on the gene

{% hint style="info" %}
**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!
{% endhint %}

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-a3727ccd62b975bcac8176b5e081704a0f995d5c%2Fcurate_gene_page_4_v32%2Bcurate%2Bgenes%2Bnote.gif?alt=media)

### **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

<div align="left"><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-58770049de2469ec3d52e4e7e67c6b518507fdf2%2Fcurate_gene_page_5_v32%2Bcurate%2Bgenes%2Btranscript.gif?alt=media" alt="" width="425"></div>

### **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

<div align="left"><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-3ab4719d906de1958542e3829c406c4606da7bbd%2Fcurate_gene_page_6_image.png?alt=media" alt="" width="431"></div>

### **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

<div align="left"><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-d7534ab5ec6001ff6ebfa39419346b6854f0fed1%2Fcurate_gene_page_7_image.png?alt=media" alt="" width="563"></div>

### **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

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-fa83c1c9b2b26a35a2992e27e0040797bf865dc7%2Fcurate_gene_page_8_image.png?alt=media)

### **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

<div align="left"><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-96026029c0e6c095985485eabad8c1af96df85a3%2Fcurate_gene_page_9_v32%2Bcurate%2Bgenes%2Bdiseases.gif?alt=media" alt="" width="563"></div>

### **Activities panel**

The Activities panel records a history of user activities on the Curate Variant page. Click on the Activities button to open it.

<div align="left"><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-85b99c9c6e23e258a4a3f19bbc41bdd1a5ac02d4%2Fcurate_gene_page_10_v32%2Bcurate%2Bgenes%2Bactivities.gif?alt=media" alt="" width="563"></div>
