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LOC122847303 Sharpr-MPRA regulatory region 9806 [ Homo sapiens (human) ]

Gene ID: 122847303, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122847303
Gene description
Sharpr-MPRA regulatory region 9806
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. 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 is marked by the H3K4me1 histone modification. Another subregion was validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC122847303 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (161281971..161282572)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (161740262..161740863)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162138789..162139083)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TANK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162016649-162017412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16707 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54734 Neighboring gene TRAF family member associated NFKB activator Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54751 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12054 Neighboring gene PSMD14 divergent transcript Neighboring gene VISTA enhancer hs416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162101046-162101546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12057 Neighboring gene long intergenic non-protein coding RNA 1806 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:162134920-162135556 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:162135557-162136192 Neighboring gene Sharpr-MPRA regulatory region 15701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16712 Neighboring gene proteasome 26S subunit, non-ATPase 14 Neighboring gene MXRA7 pseudogene 1 Neighboring gene VISTA enhancer hs2337 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:162254028-162254187 Neighboring gene RNA, 5S ribosomal pseudogene 108

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
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K4me1 hESC enhancer GRCh37_chr2:162138482-162138982

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_077038.2 

    Range
    101..702
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    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    161281971..161282572
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    161740262..161740863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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