LOC130057058 (ATAC-STARR-seq lymphoblastoid silent region 6435) - Rat Genome Database

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Gene: LOC130057058 (ATAC-STARR-seq lymphoblastoid silent region 6435) Homo sapiens
Analyze
Symbol: LOC130057058
Name: ATAC-STARR-seq lymphoblastoid silent region 6435
RGD ID: 329841403
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
GRCh381551,737,104 - 51,737,313 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01549,544,616 - 49,544,825 (+)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
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
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 15q21.1-21.2(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

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130057058 COSMIC
GTEx LOC130057058 GTEx
Human Proteome Map LOC130057058 Human Proteome Map
NCBI Gene LOC130057058 ENTREZGENE