ZNF148 wt Allele

Preferred Label : ZNF148 wt Allele;

NCIt synonyms : HT-BETA; ZFP148; BFCOL1; Zinc Finger Protein 148 (PHZ-52) Gene; BERF-1; Zinc Finger Protein 148 wt Allele; GDACCF; ZBP-89; pHZ-52; ZBP89;

NCIt definition : Human ZNF148 wild-type allele is located in the vicinity of 3q21.2 and is approximately 150 kb in length. This allele, which encodes zinc finger protein 148, is involved in the regulation of gene expression. Aberrant expression of the gene is associated with decreased colon cancer survival and truncation mutations are associated with global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.;

NCI Metathesaurus CUI : CL1778847;

GenBank Accession Number : U09851;

Details

Origin ID

C186585;

UMLS CUI

C5575587;

Automatic exact mappings (from CISMeF team)
- Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies [OMIM Phenotype]
- Zinc finger protein 148 [OMIM gene]
OMIM relation
- Zinc finger protein 148 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q21.2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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