LOC130057050 (ATAC-STARR-seq lymphoblastoid active region 9400) - Rat Genome Database

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Gene: LOC130057050 (ATAC-STARR-seq lymphoblastoid active region 9400) Homo sapiens
Analyze
Symbol: LOC130057050
Name: ATAC-STARR-seq lymphoblastoid active region 9400
RGD ID: 329839391
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
GRCh381550,884,267 - 50,884,386 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01548,691,525 - 48,691,644 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.2(chr15:50756382-50978175)x1 copy number loss See cases [RCV000050730] Chr15:50756382..50978175 [GRCh38]
Chr15:51048579..51270372 [GRCh37]
Chr15:48835871..49057664 [NCBI36]
Chr15:15q21.2		 uncertain significance
NC_000015.10:g.50755991_50948682del deletion Hereditary spastic paraplegia 51 [RCV000023636] Chr15:50755991..50948682 [GRCh38]
Chr15:51048188..51240879 [GRCh37]
Chr15:15q21.2		 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

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130057050 COSMIC
GTEx LOC130057050 GTEx
Human Proteome Map LOC130057050 Human Proteome Map
NCBI Gene LOC130057050 ENTREZGENE