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LOC121132670 Sharpr-MPRA regulatory regions 2171 and 6041 [ Homo sapiens (human) ]

Gene ID: 121132670, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121132670
Gene description
Sharpr-MPRA regulatory regions 2171 and 6041
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. One subregion 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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 21:Repr, strong Polycomb repression). An overlapping subregion was also validated as a functional repressive element by Sharpr-MPRA in K562 cells (group: K562 Repressive non-DNase unmatched - State 21:Repr). [provided by RefSeq, Dec 2021]
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Genomic context

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See LOC121132670 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (16803298..16803632)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (16675990..16676324)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (16803529..16803863)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ataxin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16962 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:16761792-16762007 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:16762145-16763344 Neighboring gene uncharacterized LOC124901268 Neighboring gene Sharpr-MPRA regulatory region 6173 Neighboring gene ATXN1 antisense RNA 1 Neighboring gene MPRA-validated peak5695 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:16891317-16891884 Neighboring gene uncharacterized LOC107986573 Neighboring gene uncharacterized LOC105374951

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • Sharpr-MPRA regulatory region 2171
  • Sharpr-MPRA regulatory region 6041

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_074211.2 

    Range
    101..435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    16803298..16803632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    16675990..16676324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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