LOC121530581 (Sharpr-MPRA regulatory region 12802) - Rat Genome Database

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Gene: LOC121530581 (Sharpr-MPRA regulatory region 12802) Homo sapiens
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Symbol: LOC121530581
Name: Sharpr-MPRA regulatory region 12802
RGD ID: 126928160
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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2021]
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
GRCh381551,692,232 - 51,692,526 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371551,984,429 - 51,984,723 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01549,499,700 - 49,499,994 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC121530581Humandevelopmental and epileptic encephalopathy 13  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 13ClinVar 

PMID:27701403  



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Variants in LOC121530581
1 total Variants

1 to 8 of 8 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 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 15q21.2-22.2(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 15q21.1-21.2(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
NC_000015.10:g.51681311_51791472dup duplication Developmental and epileptic encephalopathy, 13 [RCV001839108] Chr15:51681311..51791472 [GRCh38]
Chr15:15q21.2		 uncertain significance
NM_013243.4(SCG3):c.835A>G (p.Asn279Asp) single nucleotide variant not specified [RCV004244381] Chr15:51692303 [GRCh38]
Chr15:51984500 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3		 pathogenic
NC_000015.10:g.(51338597_?)_(51829837_51862810)inv inversion Aromatase excess syndrome [RCV000019403] Chr15:51338597..51829837 [GRCh38]
Chr15:15q21.2		 pathogenic
1 to 8 of 8 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
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
RefSeq Transcripts NG_074779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020892 (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 LOC121530581 COSMIC
GTEx LOC121530581 GTEx
Human Proteome Map LOC121530581 Human Proteome Map
NCBI Gene LOC121530581 ENTREZGENE