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LOC121468010 Sharpr-MPRA regulatory region 10023 [ Homo sapiens (human) ]

Gene ID: 121468010, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121468010
Gene description
Sharpr-MPRA regulatory region 10023
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. A subregion was validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). An overlapping accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in both phorbol 12-myristate 13-acetate-treated (for megakaryocytic differentiation) and untreated K562 erythroleukemia cells. [provided by RefSeq, Jun 2023]
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Genomic context

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See LOC121468010 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24337443..24337801)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18535788..18536146)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24806649..24807007)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene leukotriene B4 receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24785286-24785786 Neighboring gene leukotriene B4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24790818-24791777 Neighboring gene adenylate cyclase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8216 Neighboring gene receptor interacting serine/threonine kinase 3 Neighboring gene uncharacterized LOC124903413 Neighboring gene uncharacterized LOC124903291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5641 Neighboring gene nuclear factor of activated T cells 4

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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, Free PMC Article
  2. 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

  • ReSE screen-validated silencer GRCh37_chr14:24806818-24807007

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_074679.2 

    Range
    101..459
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24337443..24337801
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    638421..638779
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18535788..18536146
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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