LOC130066091 (ATAC-STARR-seq lymphoblastoid active region 18061) - Rat Genome Database

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Gene: LOC130066091 (ATAC-STARR-seq lymphoblastoid active region 18061) Homo sapiens
Analyze
Symbol: LOC130066091
Name: ATAC-STARR-seq lymphoblastoid active region 18061
RGD ID: 329837249
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
GRCh382049,334,178 - 49,334,237 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.02051,103,776 - 51,103,835 (+)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 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3 copy number gain See cases [RCV000135367] Chr20:49098782..49465707 [GRCh38]
Chr20:47715319..48082244 [GRCh37]
Chr20:47148726..47515651 [NCBI36]
Chr20:20q13.13		 uncertain significance
GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3 copy number gain See cases [RCV000139593] Chr20:48756586..49532355 [GRCh38]
Chr20:47373123..48148892 [GRCh37]
Chr20:46806530..47582299 [NCBI36]
Chr20:20q13.13		 uncertain significance
NC_000020.11:g.49212886_49410642dup duplication Developmental and epileptic encephalopathy, 26 [RCV001542404] Chr20:49212886..49410642 [GRCh38]
Chr20:20q13.13		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130066091 COSMIC
GTEx LOC130066091 GTEx
Human Proteome Map LOC130066091 Human Proteome Map
NCBI Gene LOC130066091 ENTREZGENE