LOC112163606 (Sharpr-MPRA regulatory region 3292) - Rat Genome Database

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Gene: LOC112163606 (Sharpr-MPRA regulatory region 3292) Homo sapiens
Analyze
Symbol: LOC112163606
Name: Sharpr-MPRA regulatory region 3292
RGD ID: 38667221
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. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites), with weaker activity in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2021]
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
GRCh381252,147,365 - 52,147,659 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371252,541,149 - 52,541,443 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.01252,110,960 - 52,111,254 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 copy number loss See cases [RCV000142033] Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13		 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
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 copy number loss See cases [RCV000140716] Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112163606 COSMIC
GTEx LOC112163606 GTEx
Human Proteome Map LOC112163606 Human Proteome Map
NCBI Gene LOC112163606 ENTREZGENE