LOC125078067 (Sharpr-MPRA regulatory region 15360) - Rat Genome Database

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Gene: LOC125078067 (Sharpr-MPRA regulatory region 15360) Homo sapiens
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Symbol: LOC125078067
Name: Sharpr-MPRA regulatory region 15360
RGD ID: 151892998
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 a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Apr 2022]
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
GRCh381543,204,291 - 43,204,585 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371543,496,489 - 43,496,783 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01541,011,581 - 41,011,875 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:27701403  



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1 to 2 of 2 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1 copy number loss See cases [RCV000137921] Chr15:42566761..43847106 [GRCh38]
Chr15:42858959..44139304 [GRCh37]
Chr15:40646251..41926596 [NCBI36]
Chr15:15q15.2-15.3		 likely pathogenic
GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 copy number loss See cases [RCV000142222] Chr15:42785627..43342260 [GRCh38]
Chr15:43077825..43634458 [GRCh37]
Chr15:40865117..41421750 [NCBI36]
Chr15:15q15.2-15.3		 pathogenic
1 to 2 of 2 rows

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
RefSeq Transcripts NG_080203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC125078067 COSMIC
GTEx LOC125078067 GTEx
Human Proteome Map LOC125078067 Human Proteome Map
NCBI Gene LOC125078067 ENTREZGENE