RBM8A wt Allele

Preferred Label : RBM8A wt Allele;

NCIt synonyms : DEL1q21.1; RNA Binding Motif Protein 8A wt Allele; ZNRP; BOV-1A; BOV-1B; C1DELq21.1; BOV-1C; ZRNP1; MDS014; RBM8; Y14; Binder of OVCA1 Gene; TAR; RBM8B;

NCIt definition : Human RBM8A wild-type allele is located in the vicinity of 1q21.1 and is approximately 10 kb in length. This allele, which encodes RNA-binding protein 8A, plays a role in messenger RNA splicing and nonsense mediated decay. Gene deletion or mutations in non-coding sequences of the gene are associated with thrombocytopenia-absent radius syndrome.;

NCIt note : Previously, it was thought that both the RBM8A and RBM8B genes encoded RNA-binding protein 8A; however, the RBM8B locus has been identified as a pseudogene. (EntrezGene);

NCI Metathesaurus CUI : CL1643021;

GenBank Accession Number : AF127761;

Details

Origin ID

C177190;

UMLS CUI

C5443957;

Automatic exact mappings (from CISMeF team)
- RNA binding motif protein 8A [ORDO Gene]
- Rna-binding motif protein 8a [OMIM gene]
- Thrombocytopenia-absent radius syndrome [OMIM Phenotype]
- tars [MeSH Descriptor]
OMIM relation
- Rna-binding motif protein 8a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Nonsense-Mediated Decay [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]
- mRNA Export [NCIt concept]

Keyword's position in hierarchy(ies) :

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