LOC111365161 (MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895) - Rat Genome Database

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Gene: LOC111365161 (MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895) Homo sapiens
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Symbol: LOC111365161
Name: MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895
RGD ID: 38616925
Description: This genomic region was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. A subregion was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in both liver carcinoma HepG2 cells and erythroleukemia K562 cells. The subregion contains a conserved motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: NFE2L2 motif-containing MPRA enhancer 59/60
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38792,809,382 - 92,810,581 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37792,439,124 - 92,439,268 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.0794,051,380 - 94,052,579 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:9847074   PMID:21441907   PMID:23512712   PMID:35650434   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 copy number loss See cases [RCV000141756] Chr7:92759144..97568646 [GRCh38]
Chr7:92388458..97197958 [GRCh37]
Chr7:92226394..97035894 [NCBI36]
Chr7:7q21.2-21.3		 pathogenic
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC111365161 COSMIC
GTEx LOC111365161 GTEx
Human Proteome Map LOC111365161 Human Proteome Map
NCBI Gene LOC111365161 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-08-16 LOC111365161  MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895  LOC111365161  NFE2L2 motif-containing MPRA enhancer 59/60  Symbol and/or name change 5135510 APPROVED