LOC112577530 (Sharpr-MPRA regulatory region 2190) - Rat Genome Database

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Gene: LOC112577530 (Sharpr-MPRA regulatory region 2190) Homo sapiens
Analyze
Symbol: LOC112577530
Name: Sharpr-MPRA regulatory region 2190
RGD ID: 38640113
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 was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K4me1 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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 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
GRCh381201,888,391 - 201,889,035 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371201,857,869 - 201,858,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1qNCBI
T2T-CHM13v2.01201,146,146 - 201,146,790 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403   PMID:30033119  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1		 pathogenic
GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3 copy number gain See cases [RCV000051558] Chr1:201226425..202014204 [GRCh38]
Chr1:201195553..201983332 [GRCh37]
Chr1:199462176..200249955 [NCBI36]
Chr1:1q32.1		 uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112577530 COSMIC
GTEx LOC112577530 GTEx
Human Proteome Map LOC112577530 Human Proteome Map
NCBI Gene LOC112577530 ENTREZGENE