LOC111982884 (Sharpr-MPRA regulatory region 12220) - Rat Genome Database

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Gene: LOC111982884 (Sharpr-MPRA regulatory region 12220) Homo sapiens
Analyze
Symbol: LOC111982884
Name: Sharpr-MPRA regulatory region 12220
RGD ID: 38626181
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 associates with the NANOG transcription factor. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [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
GRCh381095,324,452 - 95,325,007 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371097,084,209 - 97,084,503 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map10qNCBI
T2T-CHM13v2.01096,203,622 - 96,204,177 (+)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 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3 copy number gain See cases [RCV000142079] Chr10:94376979..95466604 [GRCh38]
Chr10:96136736..97226361 [GRCh37]
Chr10:96126726..97216351 [NCBI36]
Chr10:10q23.33-24.1		 uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3 copy number gain See cases [RCV000137970] Chr10:94401557..95444828 [GRCh38]
Chr10:96161314..97204585 [GRCh37]
Chr10:96151304..97194575 [NCBI36]
Chr10:10q23.33-24.1		 uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:94872737-95346558)x3 copy number gain See cases [RCV000051183] Chr10:94872737..95346558 [GRCh38]
Chr10:96632494..97106315 [GRCh37]
Chr10:96622484..97096305 [NCBI36]
Chr10:10q23.33-24.1		 uncertain significance
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC111982884 COSMIC
GTEx LOC111982884 GTEx
Human Proteome Map LOC111982884 Human Proteome Map
NCBI Gene LOC111982884 ENTREZGENE