LOC110121311 (VISTA enhancer hs1006) - Rat Genome Database

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Gene: LOC110121311 (VISTA enhancer hs1006) Homo sapiens
Analyze
Symbol: LOC110121311
Name: VISTA enhancer hs1006
RGD ID: 38634500
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 forebrain, hindbrain and midbrain of transgenic mice. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K27ac histone modification. [provided by RefSeq, Nov 2022]
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
GRCh3810100,484,960 - 100,486,577 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710102,244,842 - 102,246,334 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.010101,368,067 - 101,369,684 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149   PMID:30033119  


Genomics

Variants

.
Variants in LOC110121311
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3 copy number gain See cases [RCV000135650] Chr10:99386632..100648221 [GRCh38]
Chr10:101146389..102407978 [GRCh37]
Chr10:101136379..102397968 [NCBI36]
Chr10:10q24.2-24.31		 uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110121311 COSMIC
GTEx LOC110121311 GTEx
Human Proteome Map LOC110121311 Human Proteome Map
NCBI Gene LOC110121311 ENTREZGENE