LOC110120793 (VISTA enhancer hs868) - Rat Genome Database

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Gene: LOC110120793 (VISTA enhancer hs868) Homo sapiens
Analyze
Symbol: LOC110120793
Name: VISTA enhancer hs868
RGD ID: 38608552
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 embryonic hindbrain and neural tube of transgenic mice. A subregion associated with the NANOG transcription factor was also shown to be an active enhancer by ChIP-STARR-seq in naive human embryonic stem cells. [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
GRCh382105,080,753 - 105,081,700 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372105,697,211 - 105,698,158 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.02105,541,929 - 105,542,875 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149   PMID:30033119  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q12.1-12.2(chr2:104700043-105547876)x1 copy number loss See cases [RCV000053807] Chr2:104700043..105547876 [GRCh38]
Chr2:105316501..106164333 [GRCh37]
Chr2:104682933..105530765 [NCBI36]
Chr2:2q12.1-12.2		 uncertain significance
GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1 copy number loss See cases [RCV000140132] Chr2:104871270..105354003 [GRCh38]
Chr2:105487728..105970460 [GRCh37]
Chr2:104854160..105336892 [NCBI36]
Chr2:2q12.1-12.2		 uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 copy number loss See cases [RCV000135282] Chr2:104381722..107312459 [GRCh38]
Chr2:104998180..107928915 [GRCh37]
Chr2:104364612..107295347 [NCBI36]
Chr2:2q12.1-12.3		 likely pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1 copy number loss See cases [RCV000142969] Chr2:101234070..105679157 [GRCh38]
Chr2:101850532..106295614 [GRCh37]
Chr2:101216964..105662046 [NCBI36]
Chr2:2q11.2-12.2		 pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1 copy number loss See cases [RCV000134974] Chr2:102084275..106085903 [GRCh38]
Chr2:102700735..106702359 [GRCh37]
Chr2:102067167..106068791 [NCBI36]
Chr2:2q11.2-12.2		 likely pathogenic
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3		 pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110120793 COSMIC
GTEx LOC110120793 GTEx
Human Proteome Map LOC110120793 Human Proteome Map
NCBI Gene LOC110120793 ENTREZGENE