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

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 (whether or not a DECIPHER variant exists). 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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UCHL1 4:41256413-41268455

Forward strand gene: ubiquitin C-terminal hydrolase L1

Formerly known as: PARK5

Also known as: PGP9.5, Uch-L1, UCHL-1, ENSG00000154277

Function: Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed:23359680). Abrogates the ubiquitination of multiple proteins including WWTR1/… Source: UniProt

DECIPHER holds 4 sequence variants in this gene, in 4 open-access patients

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