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LOC112268481 Sharpr-MPRA regulatory region 5932 [ Homo sapiens (human) ]

Gene ID: 112268481, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112268481
Gene description
Sharpr-MPRA regulatory region 5932
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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Mar 2018]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (51989331..51989625)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (46196375..46196669)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (52456049..52456343)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927598 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:52242760-52242929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8375 Neighboring gene olfactory receptor family 7 subfamily E member 159 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52282721-52283222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52326949-52327450 Neighboring gene G protein subunit gamma 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8384 Neighboring gene uncharacterized LOC102723604 Neighboring gene uncharacterized LOC105370497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:52480482-52481434 Neighboring gene RNA transcription, translation and transport factor Neighboring gene Sharpr-MPRA regulatory region 12958 Neighboring gene nidogen 2 Neighboring gene uncharacterized LOC105378180

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_056678.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    51989331..51989625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    46196375..46196669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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