LOC112997534 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855) - Rat Genome Database

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Gene: LOC112997534 (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855) Homo sapiens
Analyze
Symbol: LOC112997534
Name: P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855
RGD ID: 38667736
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 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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). Another subregion was shown to be an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its 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: Sharpr-MPRA regulatory region 8749
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38476,781,503 - 76,782,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37477,703,089 - 77,703,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map4qNCBI
T2T-CHM13v2.0480,122,204 - 80,123,403 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403   PMID:30033119   PMID:35650434   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 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 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3 copy number gain See cases [RCV000141486] Chr4:75801143..79005805 [GRCh38]
Chr4:76722296..79926959 [GRCh37]
Chr4:76941320..80145983 [NCBI36]
Chr4:4q21.1-21.21		 pathogenic
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 LOC112997534 COSMIC
GTEx LOC112997534 GTEx
Human Proteome Map LOC112997534 Human Proteome Map
NCBI Gene LOC112997534 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-08-16 LOC112997534  P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855  LOC112997534  Sharpr-MPRA regulatory region 8749  Symbol and/or name change 5135510 APPROVED