LOC130057064 (ATAC-STARR-seq lymphoblastoid silent region 6440) - Rat Genome Database

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Gene: LOC130057064 (ATAC-STARR-seq lymphoblastoid silent region 6440) Homo sapiens
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Symbol: LOC130057064
Name: ATAC-STARR-seq lymphoblastoid silent region 6440
RGD ID: 329844390
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress 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
GRCh381551,751,951 - 51,752,010 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371552,044,148 - 52,044,207 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01549,559,457 - 49,559,516 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC130057064Humandevelopmental and epileptic encephalopathy 13  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 13ClinVar 

PMID:35858748  



.

1 to 6 of 6 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NC_000015.10:g.51681311_51791472dup duplication Developmental and epileptic encephalopathy, 13 [RCV001839108] Chr15:51681311..51791472 [GRCh38]
Chr15:15q21.2		 uncertain 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 15q21.1-21.2(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
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
NC_000015.10:g.(51338597_?)_(51829837_51862810)inv inversion Aromatase excess syndrome [RCV000019403] Chr15:51338597..51829837 [GRCh38]
Chr15:15q21.2		 pathogenic
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3		 pathogenic
1 to 6 of 6 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_191485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026770 (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 LOC130057064 COSMIC
GTEx LOC130057064 GTEx
Human Proteome Map LOC130057064 Human Proteome Map
NCBI Gene LOC130057064 ENTREZGENE