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LOC121529659 Sharpr-MPRA regulatory region 15301 [ Homo sapiens (human) ]

Gene ID: 121529659, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121529659
Gene description
Sharpr-MPRA regulatory region 15301
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121529659 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 (104768098..104768846)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99010984..99011732)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105234435..105235183)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene adenylosuccinate synthase 1 Neighboring gene uncharacterized LOC107984670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105209535-105210340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105212701-105213200 Neighboring gene uncharacterized LOC107987209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:105219303-105219804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105225732-105226680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105226681-105227627 Neighboring gene SIVA1 apoptosis inducing factor Neighboring gene uncharacterized LOC102723342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105233884-105234434 Neighboring gene AKT serine/threonine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105257987-105258628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105259269-105259910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105259911-105260550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105260551-105261192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105263234-105264006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105264007-105264779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105270463-105270962 Neighboring gene zinc finger and BTB domain containing 42

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_chr14:105234435-105234986

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_074771.2 

    Range
    101..849
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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
    104768098..104768846
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99010984..99011732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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