DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources Skip to main content
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Active Filters

e.g. EP300, Hypertrichosis, splice_donor_variant, more...

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Search examples

You can use any of the following to search for patients and variants deposited into DECIPHER.

  • Hypertrichosis by phenotype
  • hp:0001831 by HPO Identifier. Prefix the HPO ID you wish to search with hp:
  • 6:157099063-157531913 by position in GRCh38
  • grch37:6:157099063-157531913 by position in GRCh37
  • 17p11.2 by band (band will be converted to position)
  • EP300 by gene
  • Benign by pathogenicity
  • Biparental by inheritance
  • splice_donor_variant by consequence
  • 255882 by DECIPHER patient ID
  • dendritic spines plain text search in syndrome names, descriptions, etc.
Exact variant searches

Searches for small DNA sequence and protein variants will take you to a dedicated page for that change (regardless of whether a DECIPHER variant). These searches cannot be combined with other terms.

  • X:77652333 CTCT>C DNA sequence variant by GRCh38 location (1-based)
  • 22:41177728:AC: DNA sequence variant by SPDI (0-based; use three colons)
  • chrX:g.7257548_7257549insA DNA sequence variant by HGVSg
  • EP300:c.35C>T coding sequence variant by HGVSc and HGNC gene symbol
  • NM_001273.5:c.1933C>T coding sequence variant by HGVSc and RefSeq transcript
  • PACS1:p.R203W protein variant by HGVSp and HGNC gene symbol
  • NM_017617.5:p.Cys283Ter protein variant by HGVSp (trigraphs) and RefSeq transcript

Note that Ensembl stable IDs (ENSG, ENST, ENSP) are also accepted in place of other identifiers.

You can combine multiple terms (except variant searches), by separating them with a comma and a space, for example:

  • 17p11.2, Dyscalculia Combine band and phenotype
  • Arachnodactyly, High palate Search for patients with more than one phenotype
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