LOC111562369 (FOXA motif-containing MPRA enhancer 168) - Rat Genome Database

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Gene: LOC111562369 (FOXA motif-containing MPRA enhancer 168) Homo sapiens
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Symbol: LOC111562369
Name: FOXA motif-containing MPRA enhancer 168
RGD ID: 38614779
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 motif for the FOXA activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Dec 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
GRCh381570,617,220 - 70,617,364 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371570,909,559 - 70,909,703 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01568,439,993 - 68,440,137 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:21441907   PMID:23512712  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 copy number loss See cases [RCV000050780] Chr15:68830574..73823337 [GRCh38]
Chr15:69122913..74115678 [GRCh37]
Chr15:66909967..71902731 [NCBI36]
Chr15:15q23-24.1		 pathogenic
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
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

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC111562369 COSMIC
GTEx LOC111562369 GTEx
Human Proteome Map LOC111562369 Human Proteome Map
NCBI Gene LOC111562369 ENTREZGENE