LOC110120645 (OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869) - Rat Genome Database

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Gene: LOC110120645 (OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869) Homo sapiens
Analyze
Symbol: LOC110120645
Name: OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869
RGD ID: 38663589
Description: This genomic region was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K4me1 histone modification. A subregion represents a conserved genomic element that can activate a Hsp68 promoter coupled to a LacZ reporter gene in embryonic forebrain and midbrain of transgenic mice. [provided by RefSeq, Nov 2022]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: VISTA enhancer hs281
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This locus has been reviewed for its involvement in coronavirus biology, and is regulatory element in the vicinity of coronavirus related gene(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38641,555,131 - 41,556,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37641,523,224 - 41,523,677 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0641,384,164 - 41,385,158 (+)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 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110120645 COSMIC
GTEx LOC110120645 GTEx
Human Proteome Map LOC110120645 Human Proteome Map
NCBI Gene LOC110120645 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-11-29 LOC110120645  OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869  LOC110120645  VISTA enhancer hs281  Symbol and/or name change 5135510 APPROVED