Gene Overview

This section is only available for variants that overlap a transcript.

Gene symbols

A searchable dropdown shows all genes that the variant overlaps. Select one to view the information below.

Gene Descriptions

Column
Description

Update Date

The last date that the assertion was updated.

Source

Knowledge base origin of the gene description.

Role

The specified gene role.

Summary

Gene description.

Actions

This column contains the following available actions: • Add to report • Archive, if the assertion is in My Knowledge Base • Copy to New Assertion, if the assertion is not in My Knowledge Base • View past cases To edit an assertion, add it to the report before editing. For more information, refer to Manage Assertions.

Available Knowledge Bases

Memorial Sloan Kettering OncoKB

Connected Insights provides the Memorial Sloan Kettering OncoKB. For more information, refer to the OncoKB website.

Jackson Clinical Knowledge Base (JAX-CKB)

Connected Insights provides the Jackson Clinical Knowledge Base (JAX-CKB). For more information, refer to the Jackson CKB website.

Clinical Interpretation of Variants in Cancer (CIViC)

Connected Insights also provides the Clinical Interpretation of Variants in Cancer (CIViC) knowledge base. For more information, refer to the CIViC website.

The associated phenotypes in ClinGen and OMIM databases and links to open the entries in the databases in a new browser tab.

Gene Expression

Gene expression is shown in transcripts per million (TPM) if provided by the secondary analysis pipeline (e.g., DRAGEN RNA).

The following external links are included in this section:

  • PubMed

  • MGI

  • DECIPHER

  • GeneReviews

  • Monarch

  • ZFIN

  • STRING

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