LOC110120926 (VISTA enhancer hs717) - Rat Genome Database

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Gene: LOC110120926 (VISTA enhancer hs717) Homo sapiens
Analyze
Symbol: LOC110120926
Name: VISTA enhancer hs717
RGD ID: 38674450
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
GRCh381116,356,231 - 16,357,544 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371116,377,777 - 16,379,090 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01116,454,098 - 16,455,411 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:17130149  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1 copy number loss See cases [RCV000051188] Chr11:16101236..16446623 [GRCh38]
Chr11:16122782..16468170 [GRCh37]
Chr11:16079358..16424746 [NCBI36]
Chr11:11p15.2		 uncertain significance
NC_000011.10:g.(?_16318654)_(16341011_16476389)del deletion Tolchin-Le Caignec syndrome [RCV001251201] Chr11:16318654..16341011 [GRCh38]
Chr11:11p15.2		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110120926 COSMIC
GTEx LOC110120926 GTEx
Human Proteome Map LOC110120926 Human Proteome Map
NCBI Gene LOC110120926 ENTREZGENE