LOC123477753 (OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996) - Rat Genome Database

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Gene: LOC123477753 (OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996) Homo sapiens
Analyze
Symbol: LOC123477753
Name: OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996
RGD ID: 150524363
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It 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 H3K27ac histone modification. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: Sharpr-MPRA regulatory region 109
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38468,407,581 - 68,408,278 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37469,273,589 - 69,273,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map4qNCBI
T2T-CHM13v2.0471,848,700 - 71,849,397 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403   PMID:30033119  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3		 pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 copy number loss See cases [RCV000050704] Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3		 pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3		 likely pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 copy number loss See cases [RCV000142366] Chr4:67744481..70267689 [GRCh38]
Chr4:68610199..71133406 [GRCh37]
Chr4:68292794..71167995 [NCBI36]
Chr4:4q13.2-13.3		 uncertain significance
GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 copy number gain See cases [RCV000051038] Chr4:65873016..68743024 [GRCh38]
Chr4:66738734..69608742 [GRCh37]
Chr4:66421329..69643331 [NCBI36]
Chr4:4q13.2		 uncertain significance
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC123477753 COSMIC
GTEx LOC123477753 GTEx
Human Proteome Map LOC123477753 Human Proteome Map
NCBI Gene LOC123477753 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-01-24 LOC123477753  OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996  LOC123477753  Sharpr-MPRA regulatory region 109  Symbol and/or name change 5135510 APPROVED