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LOC121530591 Sharpr-MPRA regulatory region 13651 [ Homo sapiens (human) ]

Gene ID: 121530591, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121530591
Gene description
Sharpr-MPRA regulatory region 13651
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. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, May 2021]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73932828..73933122)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71750160..71750454)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74225169..74225463)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74173695-74174256 Neighboring gene TBC1 domain family member 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74179454-74179712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74194653-74195154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74214297-74215284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74215285-74216270 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74219309-74220142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74220143-74220976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74229856-74230455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74232882-74233777 Neighboring gene lysyl oxidase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74244872-74245555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6644 Neighboring gene stomatin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74289929-74290431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9739 Neighboring gene PML nuclear body scaffold Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74311530-74311700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74329432-74330313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74333577-74334149 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74338704-74338895

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

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)

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_074789.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    73932828..73933122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    71750160..71750454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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