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LOC121587562 Sharpr-MPRA regulatory region 1447 [ Homo sapiens (human) ]

Gene ID: 121587562, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587562
Gene description
Sharpr-MPRA regulatory region 1447
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 6:EnhF, candidate strong enhancer, flanking open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (78200092..78200386)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (84256299..84256593)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (78233989..78234283)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984897 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45663 Neighboring gene leucine rich repeat containing 59 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45737 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45804 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:78133785-78134284 Neighboring gene keratin 8 pseudogene 22 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45974 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45980 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78247857-78248356 Neighboring gene WW domain containing oxidoreductase Neighboring gene Sharpr-MPRA regulatory region 10407 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46108 Neighboring gene WWOX antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78337176-78337676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78337677-78338177 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:78345064-78345644 Neighboring gene NANOG hESC enhancer GRCh37_chr16:78347375-78347876 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46172 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46191 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46196 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 5

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_074849.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    78200092..78200386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    84256299..84256593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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