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LOC113748388 Sharpr-MPRA regulatory region 4 [ Homo sapiens (human) ]

Gene ID: 113748388, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748388
Gene description
Sharpr-MPRA regulatory region 4
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 HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [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 (30771533..30771827)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30909182..30909476)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30811149..30811443)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375220 Neighboring gene uncharacterized LOC105375219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30766987-30767488 Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18073 Neighboring gene indolethylamine N-methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:30823626-30824126 Neighboring gene MINDY lysine 48 deubiquitinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:30893171-30894073 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30901315-30901474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30923659-30924560 Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30941843-30942646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30942647-30943449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30946833-30947332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30948457-30948956 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30961348-30961528 Neighboring gene aquaporin 1 (Colton blood group)

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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  3. 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_062499.1 

    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
    30771533..30771827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    30909182..30909476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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