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LOC113748402 Sharpr-MPRA regulatory region 15225 [ Homo sapiens (human) ]

Gene ID: 113748402, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748402
Gene description
Sharpr-MPRA regulatory region 15225
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 unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Dec 2018]
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Genomic context

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See LOC113748402 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6640418..6640712)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6759609..6759903)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6680049..6680343)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:6628794-6629632 Neighboring gene integrator complex subunit 15 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:6637314-6637506 Neighboring gene Sharpr-MPRA regulatory region 9377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6653371-6654124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6654125-6654878 Neighboring gene zinc finger protein 853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6663565-6664065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25632 Neighboring gene zinc finger protein 316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6698799-6699300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:6703791-6704291 Neighboring gene uncharacterized LOC124901583 Neighboring gene zinc finger protein 33B pseudogene

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_062513.1 

    Range
    101..395
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    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
    6640418..6640712
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    6759609..6759903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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