NSD3 wt Allele

Preferred Label : NSD3 wt Allele;

NCIt synonyms : Wolf-Hirschhorn Syndrome Candidate 1-Like 1 Gene; MGC142029; WHISTLE; pp14328; DKFZp667H044; FLJ20353; MGC126766; WHSC1L1; Nuclear Receptor Binding SET Domain Protein 3 wt Allele; KMT3G; KMT3F; DC28;

NCIt definition : Human NSD3 wild-type allele is located in the vicinity of 8p11.23 and is approximately 113 kb in length. This allele, which encodes histone-lysine N-methyltransferase NSD3 protein, plays a role in the regulation of histone methylation. A chromosomal translocation t(8;11)(p11;p15) involving the NUP98 gene and this gene is associated with acute myeloid leukemia.;

NCIt note : A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98. (UniProt);

GenBank Accession Number : AF332469;

Details

Origin ID

C96342;

UMLS CUI

C3272722;

OMIM relation
- Nuclear receptor-binding set domain protein 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p11.23 [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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