LOC112163608 (Sharpr-MPRA regulatory region 10893) - Rat Genome Database

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Gene: LOC112163608 (Sharpr-MPRA regulatory region 10893) Homo sapiens
Analyze
Symbol: LOC112163608
Name: Sharpr-MPRA regulatory region 10893
RGD ID: 38670301
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. A 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 matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). Another subregion was validated as an enhancer by the ChIP-STARR-seq MPRA in naive human embryonic stem cells, where it is marked by the H3K27ac histone modification. This locus also includes an accessible chromatin subregion 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, Jun 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: H3K27ac hESC enhancer GRCh37_chr12:53773053-53773553; LOC127824267
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381253,379,269 - 53,380,099 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371253,773,589 - 53,773,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.01253,345,316 - 53,346,146 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403   PMID:30033119   PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3 copy number gain See cases [RCV000138030] Chr12:52851850..53558824 [GRCh38]
Chr12:53245634..53952608 [GRCh37]
Chr12:51531901..52238875 [NCBI36]
Chr12:12q13.13		 likely pathogenic
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1 copy number loss See cases [RCV000052811] Chr12:53099658..53724525 [GRCh38]
Chr12:53493442..54118309 [GRCh37]
Chr12:51779709..52404576 [NCBI36]
Chr12:12q13.13		 pathogenic
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1 copy number loss See cases [RCV000052812] Chr12:53224024..54222450 [GRCh38]
Chr12:53617808..54616234 [GRCh37]
Chr12:51904075..52902501 [NCBI36]
Chr12:12q13.13		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112163608 COSMIC
GTEx LOC112163608 GTEx
Human Proteome Map LOC112163608 Human Proteome Map
NCBI Gene LOC112163608 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-22 LOC112163608  Sharpr-MPRA regulatory region 10893  LOC127824267  H3K27ac hESC enhancer GRCh37_chr12:53773053-53773553  Data merged from RGD:155766619 737654 PROVISIONAL