LOC112694720 (Sharpr-MPRA regulatory region 13855) - Rat Genome Database

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Gene: LOC112694720 (Sharpr-MPRA regulatory region 13855) Homo sapiens
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Symbol: LOC112694720
Name: Sharpr-MPRA regulatory region 13855
RGD ID: 38638445
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 1:Tss). This locus also includes two accessible chromatin subregions, one of which was validated as an enhancer and the other as a silencer based on their ability to activate or 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) 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
GRCh382049,278,112 - 49,278,761 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372047,894,929 - 47,895,223 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20qNCBI
T2T-CHM13v2.02051,047,610 - 51,048,259 (+)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:27701403   PMID:30033119   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 LOC112694720 COSMIC
GTEx LOC112694720 GTEx
Human Proteome Map LOC112694720 Human Proteome Map
NCBI Gene LOC112694720 ENTREZGENE