LOC125110346 (Sharpr-MPRA regulatory region 14210) - Rat Genome Database

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Gene: LOC125110346 (Sharpr-MPRA regulatory region 14210) Homo sapiens
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Symbol: LOC125110346
Name: Sharpr-MPRA regulatory region 14210
RGD ID: 151892986
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 repressive element 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 Repressive non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, Apr 2022]
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
GRCh381566,746,231 - 66,746,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371567,038,569 - 67,038,863 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15qNCBI
T2T-CHM13v2.01564,568,024 - 64,568,318 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC125110346Humanaortic valve disease 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Aortic valve disease 2ClinVarPMID:28492532
LOC125110346Humanthoracic aortic aneurysm  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissectionsClinVarPMID:28492532

PMID:27701403  



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1 to 3 of 3 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NC_000015.10:g.(?_66703239)_(67066380_?)del deletion Aortic valve disease 2 [RCV003117503]|Familial thoracic aortic aneurysm and aortic dissection [RCV000708534] Chr15:66703239..67066380 [GRCh38]
Chr15:66995577..67358718 [GRCh37]
Chr15:15q22.31-22.33		 pathogenic|uncertain significance
NC_000015.10:g.(?_66703239)_(67190556_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000813979] Chr15:66703239..67190556 [GRCh38]
Chr15:66995577..67482894 [GRCh37]
Chr15:15q22.31-22.33		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
1 to 3 of 3 rows





RefSeq Transcripts NG_080246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC125110346 COSMIC
GTEx LOC125110346 GTEx
Human Proteome Map LOC125110346 Human Proteome Map
NCBI Gene LOC125110346 ENTREZGENE