Human Gene Set: HP_TYPICALLY_DE_NOVO


Standard name HP_TYPICALLY_DE_NOVO
Systematic name M41489
Brief description Typically de novo
Full description or abstract Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. [PMID:22805709]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0025352
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0025352
Filtered by similarity ?
Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
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Compendia expression profiles ? NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 12 genes
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Show members (show 12 source identifiers mapped to 12 genes)
Version history 2023.1.Hs: Renamed from HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION. Updated to HPO Release 2023-01-27.

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