SS18L1 wt Allele

Preferred Label : SS18L1 wt Allele;

NCIt synonyms : MGC78386; MGC26711; RP5-1005F21.1; CREST; LP2261; KIAA0693; Synovial Sarcoma Translocation Gene on Chromosome 18-Like 1 wt Allele;

NCIt definition : Human SS18L1 wild-type allele is located in the vicinity of 20q13.3 and is approximately 39 kb in length. This allele, which encodes calcium-responsive transactivator protein, is involved in the regulation of transcription. A chromosomal translocation t(X;20)(p11;q13.3) of this gene and the SSX1 gene is associated with synovial sarcoma.;

GenBank Accession Number : AB014593;

Details

Origin ID

C97804;

UMLS CUI

C3273635;

Automatic exact mappings (from CISMeF team)
- CREST syndrome [MeSH Descriptor]
- Crest [FMA entity]
- Ss18l1 subunit of baf chromatin remodeling complex [OMIM gene]
- comb and wattles [MeSH Descriptor]
- crest [UBERON concept]
- greece [MeSH Descriptor]
OMIM relation
- Ss18l1 subunit of baf chromatin remodeling complex [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
- 20q13.3 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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