LOC112163600 (Sharpr-MPRA regulatory region 11175) - Rat Genome Database

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Gene: LOC112163600 (Sharpr-MPRA regulatory region 11175) Homo sapiens
Analyze
Symbol: LOC112163600
Name: Sharpr-MPRA regulatory region 11175
RGD ID: 38655761
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). [provided by RefSeq, Mar 2018]
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
GRCh381250,027,306 - 50,027,600 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371250,421,089 - 50,421,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.01249,990,368 - 49,990,662 (+)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 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(chr12:49840075-50315208)x3 copy number gain See cases [RCV000051958] Chr12:49840075..50315208 [GRCh38]
Chr12:50233858..50708991 [GRCh37]
Chr12:48520125..48995258 [NCBI36]
Chr12:12q13.12		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112163600 COSMIC
GTEx LOC112163600 GTEx
Human Proteome Map LOC112163600 Human Proteome Map
NCBI Gene LOC112163600 ENTREZGENE