LOC111365152 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:76371254-76372453) - Rat Genome Database

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Gene: LOC111365152 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:76371254-76372453) Homo sapiens
Analyze
Symbol: LOC111365152
Name: P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:76371254-76372453
RGD ID: 38634434
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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. 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 HNF4 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: HNF4 motif-containing MPRA enhancer 5
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381275,977,474 - 75,978,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371276,371,828 - 76,371,972 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.01275,952,560 - 75,953,775 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
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 12q15-21.2(chr12:69769737-76964217)x1 copy number loss See cases [RCV000136267] Chr12:69769737..76964217 [GRCh38]
Chr12:70163517..77357997 [GRCh37]
Chr12:68449784..75882128 [NCBI36]
Chr12:12q15-21.2		 pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1 copy number loss See cases [RCV000050867] Chr12:75683698..80195649 [GRCh38]
Chr12:76077478..80589429 [GRCh37]
Chr12:74363745..79113560 [NCBI36]
Chr12:12q21.2-21.31		 pathogenic
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 LOC111365152 COSMIC
GTEx LOC111365152 GTEx
Human Proteome Map LOC111365152 Human Proteome Map
NCBI Gene LOC111365152 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-08-23 LOC111365152  P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:76371254-76372453  LOC111365152  HNF4 motif-containing MPRA enhancer 5  Symbol and/or name change 5135510 APPROVED