LOC111828510 (Sharpr-MPRA regulatory regions 1871 and 11985) - Rat Genome Database
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Gene: LOC111828510 (Sharpr-MPRA regulatory regions 1871 and 11985) Homo sapiens
Analyze
Symbol: LOC111828510
Name: Sharpr-MPRA regulatory regions 1871 and 11985
RGD ID: 38634155
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. Two overlapping sub-regions were validated as functional enhancers 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 DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 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
GRCh382102,143,609 - 102,143,963 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map2qNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_056238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1 copy number loss See cases [RCV000134974] Chr2:102084275..106085903 [GRCh38]
Chr2:102700735..106702359 [GRCh37]
Chr2:102067167..106068791 [NCBI36]
Chr2:2q11.2-12.2		 likely pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2		 uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3		 pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1 copy number loss See cases [RCV000142969] Chr2:101234070..105679157 [GRCh38]
Chr2:101850532..106295614 [GRCh37]
Chr2:101216964..105662046 [NCBI36]
Chr2:2q11.2-12.2		 pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC LOC111828510 COSMIC
GTEx LOC111828510 GTEx
Human Proteome Map LOC111828510 Human Proteome Map
NCBI Gene LOC111828510 ENTREZGENE