LOC130063554 (ATAC-STARR-seq lymphoblastoid active region 14004) - Rat Genome Database

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Gene: LOC130063554 (ATAC-STARR-seq lymphoblastoid active region 14004) Homo sapiens
Analyze
Symbol: LOC130063554
Name: ATAC-STARR-seq lymphoblastoid active region 14004
RGD ID: 329842057
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
GRCh381911,048,997 - 11,049,046 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01911,176,003 - 11,176,052 (+)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 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NC_000019.9:g.(?_11106879)_(11172502_?)dup duplication Rhabdoid tumor predisposition syndrome 2 [RCV000793487] Chr19:10996203..11061826 [GRCh38]
Chr19:11106879..11172502 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.10:g.(?_10984121)_(11062282_?)del deletion Rhabdoid tumor predisposition syndrome 2 [RCV000461677] Chr19:10984121..11062282 [GRCh38]
Chr19:11094797..11172958 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130063554 COSMIC
GTEx LOC130063554 GTEx
Human Proteome Map LOC130063554 Human Proteome Map
NCBI Gene LOC130063554 ENTREZGENE