LOC111365216 (FOXA motif-containing MPRA enhancer 105) - Rat Genome Database

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Gene: LOC111365216 (FOXA motif-containing MPRA enhancer 105) Homo sapiens
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Symbol: LOC111365216
Name: FOXA motif-containing MPRA enhancer 105
RGD ID: 38627284
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 FOXA 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
GRCh381567,135,581 - 67,135,725 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371567,427,919 - 67,428,063 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01564,957,504 - 64,957,648 (+)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
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 LOC111365216 COSMIC
GTEx LOC111365216 GTEx
Human Proteome Map LOC111365216 Human Proteome Map
NCBI Gene LOC111365216 ENTREZGENE