LOC130057113 (ATAC-STARR-seq lymphoblastoid active region 9449) - Rat Genome Database

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Gene: LOC130057113 (ATAC-STARR-seq lymphoblastoid active region 9449) Homo sapiens
Analyze
Symbol: LOC130057113
Name: ATAC-STARR-seq lymphoblastoid active region 9449
RGD ID: 329814884
Description: This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 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
GRCh381555,685,416 - 55,685,465 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371555,977,614 - 55,977,663 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01553,488,573 - 53,488,622 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3 copy number gain See cases [RCV000139795] Chr15:54998301..55749136 [GRCh38]
Chr15:55290499..56041334 [GRCh37]
Chr15:53077791..53828626 [NCBI36]
Chr15:15q21.3		 uncertain significance
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
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 LOC130057113 COSMIC
GTEx LOC130057113 GTEx
Human Proteome Map LOC130057113 Human Proteome Map
NCBI Gene LOC130057113 ENTREZGENE