LOC130064350 (ATAC-STARR-seq lymphoblastoid silent region 10575) - Rat Genome Database

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Gene: LOC130064350 (ATAC-STARR-seq lymphoblastoid silent region 10575) Homo sapiens
Analyze
Symbol: LOC130064350
Name: ATAC-STARR-seq lymphoblastoid silent region 10575
RGD ID: 329826341
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
GRCh381938,433,574 - 38,433,713 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01941,235,759 - 41,235,898 (+)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

Variants

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Variants in LOC130064350
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
NM_000540.3(RYR1):c.-118G>A single nucleotide variant Central core myopathy [RCV001127110]|Congenital multicore myopathy with external ophthalmoplegia [RCV001127111]|Malignant hyperthermia, susceptibility to, 1 [RCV001127112] Chr19:38433712 [GRCh38]
Chr19:38924352 [GRCh37]
Chr19:19q13.2		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130064350 COSMIC
GTEx LOC130064350 GTEx
Human Proteome Map LOC130064350 Human Proteome Map
NCBI Gene LOC130064350 ENTREZGENE