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LOC113748420 Sharpr-MPRA regulatory region 4482 [ Homo sapiens (human) ]

Gene ID: 113748420, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748420
Gene description
Sharpr-MPRA regulatory region 4482
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). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99370026..99370320)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100608924..100609218)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98967649..98967943)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene myosin heavy chain 16 (pseudogene) Neighboring gene uncharacterized LOC105375421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98923087-98923646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18405 Neighboring gene actin related protein 2/3 complex subunit 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98955605-98956105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98957299-98957799 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98962524-98962729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98966657-98967570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98970933-98971433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26313 Neighboring gene actin related protein 2/3 complex subunit 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98991459-98992130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26314 Neighboring gene PDGFA associated protein 1 Neighboring gene microRNA 12119 Neighboring gene BUD31 homolog

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. 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_062531.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99370026..99370320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100608924..100609218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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