LOC125387300 (Sharpr-MPRA regulatory region 2244) - Rat Genome Database

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Gene: LOC125387300 (Sharpr-MPRA regulatory region 2244) Homo sapiens
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Symbol: LOC125387300
Name: Sharpr-MPRA regulatory region 2244
RGD ID: 152975864
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 naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. Another subregion was validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 21:Repr, strong Polycomb repression). [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
GRCh382051,701,470 - 51,701,975 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372050,318,009 - 50,318,514 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20qNCBI
T2T-CHM13v2.02053,472,318 - 53,472,823 (+)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 20q13.13-13.2(chr20:49947237-55875406)x3 copy number gain See cases [RCV000053037] Chr20:49947237..55875406 [GRCh38]
Chr20:48563774..54450462 [GRCh37]
Chr20:47997181..53883869 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
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 20q13.13-13.2(chr20:50781990-52792847)x1 copy number loss See cases [RCV000137265] Chr20:50781990..52792847 [GRCh38]
Chr20:49398527..51409386 [GRCh37]
Chr20:48831934..50842793 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC125387300 COSMIC
GTEx LOC125387300 GTEx
Human Proteome Map LOC125387300 Human Proteome Map
NCBI Gene LOC125387300 ENTREZGENE