LOC111413015 (HNF4 motif-containing MPRA enhancer 143) - Rat Genome Database

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Gene: LOC111413015 (HNF4 motif-containing MPRA enhancer 143) Homo sapiens
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Symbol: LOC111413015
Name: HNF4 motif-containing MPRA enhancer 143
RGD ID: 38653237
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 a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the HNF4 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381566,770,574 - 66,770,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371567,062,912 - 67,063,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01564,592,374 - 64,592,518 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:21441907   PMID:23512712  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000015.10:g.(?_66703239)_(67066380_?)del deletion Aortic valve disease 2 [RCV003117503]|Familial thoracic aortic aneurysm and aortic dissection [RCV000708534] Chr15:66703239..67066380 [GRCh38]
Chr15:66995577..67358718 [GRCh37]
Chr15:15q22.31-22.33		 pathogenic|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
NC_000015.10:g.(?_66703239)_(67190556_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000813979] Chr15:66703239..67190556 [GRCh38]
Chr15:66995577..67482894 [GRCh37]
Chr15:15q22.31-22.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC111413015 COSMIC
GTEx LOC111413015 GTEx
Human Proteome Map LOC111413015 Human Proteome Map
NCBI Gene LOC111413015 ENTREZGENE