LOC112694729 (Sharpr-MPRA regulatory region 10301) - Rat Genome Database

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Gene: LOC112694729 (Sharpr-MPRA regulatory region 10301) Homo sapiens
Analyze
Symbol: LOC112694729
Name: Sharpr-MPRA regulatory region 10301
RGD ID: 38639651
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 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
GRCh38207,585,082 - 7,585,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37207,565,729 - 7,566,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20pNCBI
T2T-CHM13v2.0207,626,593 - 7,626,887 (+)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 20p12.3(chr20:6186076-8804328)x3 copy number gain See cases [RCV000138041] Chr20:6186076..8804328 [GRCh38]
Chr20:6166723..8784975 [GRCh37]
Chr20:6114723..8732975 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3 copy number gain See cases [RCV000142356] Chr20:7125410..8606171 [GRCh38]
Chr20:7106057..8586818 [GRCh37]
Chr20:7054057..8534818 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1 copy number loss See cases [RCV000052739] Chr20:7566644..11028694 [GRCh38]
Chr20:7547291..11009342 [GRCh37]
Chr20:7495291..10957342 [NCBI36]
Chr20:20p12.3-12.2		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3 copy number gain See cases [RCV000050394] Chr20:7123110..8577546 [GRCh38]
Chr20:7103757..8558193 [GRCh37]
Chr20:7051757..8506193 [NCBI36]
Chr20:20p12.3		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1 copy number loss See cases [RCV000050903] Chr20:6336607..8577546 [GRCh38]
Chr20:6317254..8558193 [GRCh37]
Chr20:6265254..8506193 [NCBI36]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p12.3(chr20:7336200-8078349)x3 copy number gain See cases [RCV000138624] Chr20:7336200..8078349 [GRCh38]
Chr20:7316847..8058996 [GRCh37]
Chr20:7264847..8006996 [NCBI36]
Chr20:20p12.3		 likely benign
GRCh38/hg38 20p12.3(chr20:7137090-8095330)x3 copy number gain See cases [RCV000139794] Chr20:7137090..8095330 [GRCh38]
Chr20:7117737..8075977 [GRCh37]
Chr20:7065737..8023977 [NCBI36]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1 copy number loss See cases [RCV000135292] Chr20:6617695..13392559 [GRCh38]
Chr20:6598342..13373206 [GRCh37]
Chr20:6546342..13321206 [NCBI36]
Chr20:20p12.3-12.1		 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 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112694729 COSMIC
GTEx LOC112694729 GTEx
Human Proteome Map LOC112694729 Human Proteome Map
NCBI Gene LOC112694729 ENTREZGENE