LOC110121480 (VISTA enhancer hs2078) - Rat Genome Database

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Gene: LOC110121480 (VISTA enhancer hs2078) Homo sapiens
Analyze
Symbol: LOC110121480
Name: VISTA enhancer hs2078
RGD ID: 38645325
Description: This locus represents a conserved genomic element that can function as an enhancer. The major subregion can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic heart of transgenic mice. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381254,018,453 - 54,021,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371254,412,238 - 54,415,445 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01253,984,026 - 53,987,234 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1 copy number loss See cases [RCV000052812] Chr12:53224024..54222450 [GRCh38]
Chr12:53617808..54616234 [GRCh37]
Chr12:51904075..52902501 [NCBI36]
Chr12:12q13.13		 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
GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3 copy number gain See cases [RCV000141162] Chr12:53841686..54136856 [GRCh38]
Chr12:54235470..54530640 [GRCh37]
Chr12:52521737..52816907 [NCBI36]
Chr12:12q13.13		 likely benign
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 copy number gain See cases [RCV000141435] Chr12:53420606..56202942 [GRCh38]
Chr12:53814390..56596726 [GRCh37]
Chr12:52100657..54882993 [NCBI36]
Chr12:12q13.13-13.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110121480 COSMIC
GTEx LOC110121480 GTEx
Human Proteome Map LOC110121480 Human Proteome Map
NCBI Gene LOC110121480 ENTREZGENE