LOC113687203 (Sharpr-MPRA regulatory region 14752) - Rat Genome Database

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Gene: LOC113687203 (Sharpr-MPRA regulatory region 14752) Homo sapiens
Analyze
Symbol: LOC113687203
Name: Sharpr-MPRA regulatory region 14752
RGD ID: 38662498
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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). It also displayed weak repressive activity by Sharpr-MRPA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies). [provided by RefSeq, Dec 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
GRCh38715,407,924 - 15,408,218 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37715,447,549 - 15,447,843 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7pNCBI
T2T-CHM13v2.0715,540,421 - 15,540,715 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:9847074   PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1 copy number loss See cases [RCV000142652] Chr7:11122492..16479303 [GRCh38]
Chr7:11162119..16518928 [GRCh37]
Chr7:11128644..16485453 [NCBI36]
Chr7:7p21.3-21.2		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 copy number loss See cases [RCV000136932] Chr7:13966197..18321354 [GRCh38]
Chr7:14005822..18360977 [GRCh37]
Chr7:13972347..18327502 [NCBI36]
Chr7:7p21.2-21.1		 pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 copy number loss See cases [RCV000133737] Chr7:14904894..16925094 [GRCh38]
Chr7:14944519..16964718 [GRCh37]
Chr7:14911044..16931243 [NCBI36]
Chr7:7p21.2-21.1		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.2(chr7:14844332-15574557)x3 copy number gain See cases [RCV000143528] Chr7:14844332..15574557 [GRCh38]
Chr7:14883957..15614182 [GRCh37]
Chr7:14850482..15580707 [NCBI36]
Chr7:7p21.2		 uncertain significance
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 copy number loss See cases [RCV000052289] Chr7:15133711..19642829 [GRCh38]
Chr7:15173336..19682452 [GRCh37]
Chr7:15139861..19648977 [NCBI36]
Chr7:7p21.2-21.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC113687203 COSMIC
GTEx LOC113687203 GTEx
Human Proteome Map LOC113687203 Human Proteome Map
NCBI Gene LOC113687203 ENTREZGENE