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LOC113748398 Sharpr-MPRA regulatory region 14531 [ Homo sapiens (human) ]

Gene ID: 113748398, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748398
Gene description
Sharpr-MPRA regulatory region 14531
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 8:EnhW, candidate weak enhancer and open chromatin), with weaker activation in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50812872..50813166)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50974153..50974447)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50880569..50880863)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dopa decarboxylase Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:50598907-50600106 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:50602470-50603669 Neighboring gene DDC antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50637965-50638490 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99443 Neighboring gene growth factor receptor bound protein 10 Neighboring gene uncharacterized LOC124901632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50720584-50721214 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50736937-50737438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50737439-50737938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50782907-50783422 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99483 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50836560-50837139 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:50837140-50837720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50875755-50876262 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:50894096-50895295 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:50905976-50907175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50920730-50921230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50921231-50921731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50935547-50936047 Neighboring gene ribosomal protein L39 pseudogene 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50954893-50955392 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50966118-50966911 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50966912-50967704 Neighboring gene MPRA-validated peak6518 silencer Neighboring gene small nucleolar RNA SNORA4

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_062509.1 

    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
    50812872..50813166
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    50974153..50974447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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