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LOC112469014 Sharpr-MPRA regulatory region 12864 [ Homo sapiens (human) ]

Gene ID: 112469014, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112469014
Gene description
Sharpr-MPRA regulatory region 12864
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2018]
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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 (59356765..59357059)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (65148864..65149158)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (59390669..59390963)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984867 Neighboring gene uncharacterized LOC105371296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:58896530-58897213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59026374-59026874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59026875-59027375 Neighboring gene MPRA-validated peak2609 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:59100515-59101714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59130226-59130726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59130727-59131227 Neighboring gene ribosomal protein S27 pseudogene 27 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:59270838-59271380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59314069-59314570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:59314571-59315070 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:59354927-59355131 Neighboring gene uncharacterized LOC107984824 Neighboring gene uncharacterized LOC105371298

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_056842.1 

    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
    59356765..59357059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    65148864..65149158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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