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LOC120893165 Sharpr-MPRA regulatory region 5964 [ Homo sapiens (human) ]

Gene ID: 120893165, updated on 12-Sep-2024

Summary

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Gene symbol
LOC120893165
Gene description
Sharpr-MPRA regulatory region 5964
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 (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac 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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate 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 LOC120893165 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169485951..169487001)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168841297..168842347)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169455189..169456239)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene solute carrier family 19 member 2 Neighboring gene MPRA-validated peak447 silencer Neighboring gene MPRA-validated peak448 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1250 Neighboring gene MPRA-validated peak449 silencer Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene coagulation factor V Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555193-169555694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555695-169556194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2075 Neighboring gene selectin P

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 active region 2073
  • ATAC-STARR-seq lymphoblastoid active region 2074
  • H3K27ac hESC enhancer GRCh37_chr1:169455319-169456239

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_073925.2 

    Range
    101..1151
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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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    169485951..169487001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    168841297..168842347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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