LOC130056972 (ATAC-STARR-seq lymphoblastoid active region 9340) - Rat Genome Database

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Gene: LOC130056972 (ATAC-STARR-seq lymphoblastoid active region 9340) Homo sapiens
Analyze
Symbol: LOC130056972
Name: ATAC-STARR-seq lymphoblastoid active region 9340
RGD ID: 329833456
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
GRCh381544,593,079 - 44,593,178 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01542,401,048 - 42,401,147 (+)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.44330225_44821972dup duplication See cases [RCV003313908] Chr15:44330225..44821972 [GRCh38]
Chr15:15q15.3-21.1		 uncertain significance
NC_000015.9:g.(?_44881450)_(44925835_?)dup duplication Hereditary spastic paraplegia 11 [RCV000466751] Chr15:44589252..44633637 [GRCh38]
Chr15:44881450..44925835 [GRCh37]
Chr15:15q21.1		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130056972 COSMIC
GTEx LOC130056972 GTEx
Human Proteome Map LOC130056972 Human Proteome Map
NCBI Gene LOC130056972 ENTREZGENE