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LOC121175360 Sharpr-MPRA regulatory region 14293 [ Homo sapiens (human) ]

Gene ID: 121175360, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175360
Gene description
Sharpr-MPRA regulatory region 14293
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121175360 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (106072083..106072377)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (107387499..107387793)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (105712529..105712823)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ataxin 7 like 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:105470396-105471595 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105477786-105478643 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105478644-105479500 Neighboring gene ribosomal protein L13a pseudogene 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105494345-105495094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18524 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105525198-105525381 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:105528806-105529002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105596161-105596662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105596663-105597162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105602263-105603214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105603215-105604166 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105631053-105631700 Neighboring gene uncharacterized LOC107986833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18525 Neighboring gene cadherin related family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105671382-105671882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105683076-105683576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:105698686-105699237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26480 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105720431-105720970 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:105720971-105721508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:105751988-105752820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18529 Neighboring gene synaptophysin like 1 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 1

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_074292.1 

    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
    106072083..106072377
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    107387499..107387793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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