LOC129390701 (MPRA-validated peak2334 silencer) - Rat Genome Database

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Gene: LOC129390701 (MPRA-validated peak2334 silencer) Homo sapiens
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Symbol: LOC129390701
Name: MPRA-validated peak2334 silencer
RGD ID: 329339697
Description: This genomic region was identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. It was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. [provided by RefSeq, Apr 2023]
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
GRCh381550,710,679 - 50,710,879 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371551,002,876 - 51,003,076 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01548,517,735 - 48,517,935 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:32103011  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129390701 COSMIC
GTEx LOC129390701 GTEx
Human Proteome Map LOC129390701 Human Proteome Map
NCBI Gene LOC129390701 ENTREZGENE