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LOC113783881 Sharpr-MPRA regulatory region 12229 [ Homo sapiens (human) ]

Gene ID: 113783881, updated on 17-Sep-2024

Summary

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Gene symbol
LOC113783881
Gene description
Sharpr-MPRA regulatory region 12229
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 5:Enh, candidate strong enhancer, open chromatin), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC113783881 in Genome Data Viewer
Location:
8q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (106170681..106170975)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (107298618..107298904)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (107182909..107183203)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein, FOG family member 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 Neighboring gene ZFPM2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:106898552-106899078 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:106965782-106966981 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:107072226-107073425 Neighboring gene uncharacterized LOC124902003 Neighboring gene solute carrier family 16 member 14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19464 Neighboring gene oxidation resistance 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27799 Neighboring gene OXR1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27801

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_062537.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    106170681..106170975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    107298618..107298904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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