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LOC124049165 Sharpr-MPRA regulatory region 3896 [ Homo sapiens (human) ]

Gene ID: 124049165, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124049165
Gene description
Sharpr-MPRA regulatory region 3896
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 includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC124049165 in Genome Data Viewer
Location:
8p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12600675..12601640)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (12867413..12868378)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12458184..12459149)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene FAM86B2 divergent transcript Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12338855-12339594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12344744-12345435 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12354567-12355426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12355427-12356286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12358763-12359264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12368735-12369234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12380441-12380940 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:12382083-12382620 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:12383331-12384025 Neighboring gene NANOG hESC enhancer GRCh37_chr8:12388844-12389380 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:12394565-12395190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12396623-12397488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12400676-12401176 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12401177-12401677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12404893-12405684 Neighboring gene uncharacterized LOC729732 Neighboring gene RPS3A pseudogene 34 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12445595-12446325 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12446326-12447056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12447057-12447786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12448852-12449438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12468951-12469450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12471525-12472026 Neighboring gene RPS3A pseudogene 35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12516146-12516798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12523581-12524082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12533771-12534288 Neighboring gene VPS51 pseudogene 19

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid silent region 18948
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12458184-12458968

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_078494.3 

    Range
    101..1066
    Download
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    12600675..12601640
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5796088..5797053
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    12867413..12868378
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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