LOC112694696 (BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263) - Rat Genome Database

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Gene: LOC112694696 (BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263) Homo sapiens
Analyze
Symbol: LOC112694696
Name: BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263
RGD ID: 38604124
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. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: Sharpr-MPRA regulatory region 4288
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382025,237,327 - 25,238,627 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372025,218,469 - 25,218,763 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20pNCBI
T2T-CHM13v2.02025,302,292 - 25,303,592 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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


Genomics

Variants

.
Variants in LOC112694696
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3 copy number gain See cases [RCV000052764] Chr20:25089431..25492048 [GRCh38]
Chr20:25070067..25472684 [GRCh37]
Chr20:25018067..25420684 [NCBI36]
Chr20:20p11.21		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3 copy number gain See cases [RCV000143540] Chr20:25031679..25625520 [GRCh38]
Chr20:25012315..25606156 [GRCh37]
Chr20:24960315..25554156 [NCBI36]
Chr20:20p11.21		 uncertain significance
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3 copy number gain See cases [RCV000053000] Chr20:22061586..30285812 [GRCh38]
Chr20:22042224..29520488 [GRCh37]
Chr20:21990224..28134149 [NCBI36]
Chr20:20p11.22-q11.1		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3 copy number gain See cases [RCV000052765] Chr20:25099947..25468308 [GRCh38]
Chr20:25080583..25448944 [GRCh37]
Chr20:25028583..25396944 [NCBI36]
Chr20:20p11.21		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p11.21(chr20:25121080-25485829) copy number gain Anomalous pulmonary venous return [RCV003223582] Chr20:25121080..25485829 [GRCh38]
Chr20:20p11.21		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112694696 COSMIC
GTEx LOC112694696 GTEx
Human Proteome Map LOC112694696 Human Proteome Map
NCBI Gene LOC112694696 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-08-23 LOC112694696  BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263  LOC112694696  Sharpr-MPRA regulatory region 4288  Symbol and/or name change 5135510 APPROVED