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LOC121468000 Sharpr-MPRA regulatory region 8019 [ Homo sapiens (human) ]

Gene ID: 121468000, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121468000
Gene description
Sharpr-MPRA regulatory region 8019
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 non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121468000 in Genome Data Viewer
Location:
13q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52848734..52849028)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (52064179..52064473)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (53422869..53423163)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53412585-53413086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53413087-53413586 Neighboring gene peptidylprolyl isomerase A pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53420960-53421848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53421849-53422738 Neighboring gene Sharpr-MPRA regulatory region 8029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7796 Neighboring gene protocadherin 8 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:53453690-53454319 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:53454320-53454948 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:53480206-53480776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53499618-53500118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:53530858-53531358 Neighboring gene olfactomedin 4 Neighboring gene long intergenic non-protein coding RNA 1065

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_074667.1 

    Range
    101..395
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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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    52848734..52849028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    52064179..52064473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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