SMARCA4 wt Allele

Preferred Label : SMARCA4 wt Allele;

NCIt synonyms : BAF190; CSS4; BRM/SWI2-Related Gene-1; SNF2-Beta; BRG-1; BRG1; SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 4 wt Allele; SWI2; hSNF2b; RTPS2; BAF190A; SNF2L4; BRM/SWI2-Related Gene 1; MRD16; SNF2; SNF2LB;

NCIt definition : Human SMARCA4 wild-type allele is located in the vicinity of 19p13.3 and is approximately 101 kb in length. This allele, which encodes probable global transcription activator SNF2L4 protein, plays a role in both transcriptional progression and chromatin structural modulation.;

GenBank Accession Number : NM_003072;

Details

Origin ID

C52111;

UMLS CUI

C1706022;

OMIM relation
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 [OMIM gene]
See also inter- (CISMeF)
- Coffin-siris syndrome 4 [OMIM Phenotype]
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_has_abnormality
- SMARCA4 Gene Inactivation [NCIt concept]
gene_has_physical_location
- 19: 10932606-11033953 [NCIt concept]
gene_in_chromosomal_location
- 19p13.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
- SMARCA4 -Deficient Sinonasal Carcinoma [NCIt concept]
- Thoracic SMARCA4-Deficient Undifferentiated Tumor [NCIt concept]
gene_is_element_in_pathway
- Gene Expression Regulation by Vitamin D Receptor Pathway [NCIt concept]
- hSWI-SNF Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- Hydrolysis [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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