WAC wt Allele - CISMeF

Preferred Label : WAC wt Allele;

NCIt synonyms : MGC10753; PRO1741; BM-016; Wwp4; WW Domain Containing Adaptor With Coiled-Coil wt Allele; KIAA1844; FLJ31290; DESSH; WW Domain-Containing Adaptor With Coiled Coil Gene;

NCIt definition : Human WAC wild-type allele is located in the vicinity of 10p12.1 and is approximately 91 kb in length. This allele, which encodes WW domain-containing adapter protein with coiled-coil, plays a role in both DNA damage responses and chromatin remodeling. Mutation of the gene is associated with Desanto-Shinawi syndrome.;

NCI Metathesaurus CUI : CL521859;

GenBank Accession Number : AK055852;

Details

Origin ID

C134035;

UMLS CUI

C4521374;

Automatic exact mappings (from CISMeF team)
- Desanto-shinawi syndrome [OMIM Phenotype]
- WW domain containing adaptor with coiled-coil [ORDO Gene]
- Ww domain-containing adaptor with coiled-coil region [OMIM gene]
OMIM relation
- Ww domain-containing adaptor with coiled-coil region [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10p12.1 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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