Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol CDH1
Synonyms Arc-1 | BCDS1 | CD324 | CDHE | ECAD | LCAM | UVO
Gene Description CDH1, cadherin 1, type 1, encodes E-Cadherin and is a tumor suppressor (PMID: 30562755) involved in epithelial cell-cell adhesion, cell signaling, differentiation, and polarity (PMID: 18726070, PMID: 26674224). CDH1 germline mutations are associated with hereditary diffuse gastric cancer (PMID: 30562755) and somatic mutations are found in gastric, breast, colon, and NSCLC cancers (PMID: 27283171, PMID: 25184143).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function CDH1 inact mut indicates that this variant results in a loss of function of the Cdh1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CDH1 mutant indicates an unspecified mutation in the CDH1 gene.
V660fs frameshift loss of function - predicted CDH1 V660fs results in a change in the amino acid sequence of the Cdh1 protein beginning at aa 660 of 882, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), V660fs is predicted to lead to a loss of Cdh1 protein function.
W409fs frameshift loss of function - predicted CDH1 W409fs results in a change in the amino acid sequence of the Cdh1 protein beginning at aa 409 of 882, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the catenin-binding region (UniProt.org), W409fs is predicted to lead to a loss of Cdh1 protein function.