LOC110121401 (VISTA enhancer hs1571) - Rat Genome Database

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Gene: LOC110121401 (VISTA enhancer hs1571) Homo sapiens
Analyze
Symbol: LOC110121401
Name: VISTA enhancer hs1571
RGD ID: 38659751
Description: This locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in transgenic mice. [provided by RefSeq, Jun 2015]
Type: biological-region
RefSeq Status: PROVISIONAL
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812113,663,390 - 113,666,000 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712114,101,195 - 114,103,805 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.012113,639,211 - 113,641,819 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1 copy number loss See cases [RCV000143532] Chr12:113077775..114372366 [GRCh38]
Chr12:113515580..114810171 [GRCh37]
Chr12:111999963..113294554 [NCBI36]
Chr12:12q24.13-24.21		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110121401 COSMIC
GTEx LOC110121401 GTEx
Human Proteome Map LOC110121401 Human Proteome Map
NCBI Gene LOC110121401 ENTREZGENE