LOC114827860 (VISTA enhancer hs2540) - Rat Genome Database

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Gene: LOC114827860 (VISTA enhancer hs2540) Homo sapiens
Analyze
Symbol: LOC114827860
Name: VISTA enhancer hs2540
RGD ID: 38623244
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
GRCh381291,137,887 - 91,143,694 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371291,531,664 - 91,537,471 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01291,115,369 - 91,121,176 (+)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 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1 copy number loss See cases [RCV000138659] Chr12:90996508..94872818 [GRCh38]
Chr12:91390285..95266594 [GRCh37]
Chr12:89914416..93790725 [NCBI36]
Chr12:12q21.33-22		 likely pathogenic
GRCh38/hg38 12q21.33(chr12:90195589-91249888)x3 copy number gain See cases [RCV000051978] Chr12:90195589..91249888 [GRCh38]
Chr12:90589366..91643665 [GRCh37]
Chr12:89113497..90167796 [NCBI36]
Chr12:12q21.33		 uncertain significance
GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3 copy number gain See cases [RCV000051979] Chr12:90197297..91239004 [GRCh38]
Chr12:90591074..91632781 [GRCh37]
Chr12:89115205..90156912 [NCBI36]
Chr12:12q21.33		 uncertain significance
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 LOC114827860 COSMIC
GTEx LOC114827860 GTEx
Human Proteome Map LOC114827860 Human Proteome Map
NCBI Gene LOC114827860 ENTREZGENE