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LOC121725071 Sharpr-MPRA regulatory region 5902 [ Homo sapiens (human) ]

Gene ID: 121725071, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121725071
Gene description
Sharpr-MPRA regulatory region 5902
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. It 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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). 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 LOC121725071 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 (205543541..205543835)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204807995..204808289)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205512669..205512963)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Lys (TTT) 8-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205450402-205451002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205459961-205460612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205475721-205476374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205479231-205479778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205480776-205481390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205484536-205485236 Neighboring gene cyclin dependent kinase 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205486639-205487338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205490554-205491379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205505565-205506066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1743 Neighboring gene MFSD4A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205538423-205538972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205538973-205539521 Neighboring gene RNA, U2 small nuclear 19, pseudogene Neighboring gene major facilitator superfamily domain containing 4A Neighboring gene uncharacterized LOC124904491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205555399-205556189 Neighboring gene Sharpr-MPRA regulatory region 9898

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

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 1744

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_075540.1 

    Range
    101..395
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    205543541..205543835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    204807995..204808289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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