USB1 wt Allele

Preferred Label : USB1 wt Allele;

NCIt synonyms : HVSL Motif Containing 1 Gene; U6 snRNA Biogenesis 1 Gene; hUsb1; Poikiloderma with Neutropenia Protein 1 Gene; U Six Biogenesis 1 Gene; C16orf57; PN; Putative U6 snRNA Phosphodiesterase Gene; Mpn1; U6 snRNA Biogenesis Phosphodiesterase 1 wt Allele; Chromosome 16 Open Reading Frame 57 Gene; FLJ13154; HVSL1; Poikiloderma with Neutropenia Gene;

NCIt definition : Human USB1 wild-type allele is located in the vicinity of 16q21 and is approximately 22 kb in length. This allele, which encodes U6 snRNA phosphodiesterase protein, plays a role in the maturation of U6 snRNA. Mutations in the gene are associated with poikiloderma with neutropenia.;

NCI Metathesaurus CUI : CL1643448;

GenBank Accession Number : AK023216;

Details

Origin ID

C177666;

UMLS CUI

C5443975;

Automatic exact mappings (from CISMeF team)
- Periostin [OMIM gene]
- Pneumonia [ICD-11 Category]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia [OMIM Phenotype]
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
- granulocytes [MeSH Descriptor]
- nasal polyps [MeSH Descriptor]
- paranigral nucleus [UBERON concept]
OMIM relation
- U6 small nuclear rna biogenesis phosphodiesterase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q21 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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