LOC121045486 (Sharpr-MPRA regulatory regions 9818 and 11773) - Rat Genome Database

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Gene: LOC121045486 (Sharpr-MPRA regulatory regions 9818 and 11773) Homo sapiens
Analyze
Symbol: LOC121045486
Name: Sharpr-MPRA regulatory regions 9818 and 11773
RGD ID: 126775204
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 subregions 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 unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). One subregion also displayed repressive activity by Sharpr-MRPA in HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Oct 2021]
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
GRCh383128,068,186 - 128,068,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373127,787,029 - 127,787,343 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3qNCBI
T2T-CHM13v2.03130,802,761 - 130,803,075 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics

Variants

.
Variants in LOC121045486
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3 copy number gain See cases [RCV000140881] Chr3:127818502..128451950 [GRCh38]
Chr3:127537345..128170793 [GRCh37]
Chr3:129020035..129653483 [NCBI36]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1 copy number loss See cases [RCV000137444] Chr3:126797420..128946623 [GRCh38]
Chr3:126516263..128665466 [GRCh37]
Chr3:127998953..130148156 [NCBI36]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_013336.4(SEC61A1):c.1244+255A>G single nucleotide variant not provided [RCV001616917] Chr3:128068314 [GRCh38]
Chr3:127787157 [GRCh37]
Chr3:3q21.3		 benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC121045486 COSMIC
GTEx LOC121045486 GTEx
Human Proteome Map LOC121045486 Human Proteome Map
NCBI Gene LOC121045486 ENTREZGENE