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LOC121175347 Sharpr-MPRA regulatory region 14050 [ Homo sapiens (human) ]

Gene ID: 121175347, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175347
Gene description
Sharpr-MPRA regulatory region 14050
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Apr 2021]
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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 (76314272..76314566)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77601742..77602036)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75943589..75943883)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene serine/arginine repetitive matrix 3 Neighboring gene uncharacterized LOC124901679 Neighboring gene MPRA-validated peak6611 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75884084-75884282 Neighboring gene Sharpr-MPRA regulatory region 1121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75890756-75891279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75896022-75896767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75919557-75920072 Neighboring gene CRISPRi-validated cis-regulatory element chr7.2946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26197 Neighboring gene Sharpr-MPRA regulatory region 11180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75946434-75947430 Neighboring gene heat shock protein family B (small) member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75947431-75948427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75957380-75957880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75957881-75958381 Neighboring gene fibroblast proliferation associated lncRNA Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75981845-75982083 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75987439-75987629 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75987737-75988383

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_074279.1 

    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
    76314272..76314566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77601742..77602036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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