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LOC121677386 Sharpr-MPRA regulatory region 1652 [ Homo sapiens (human) ]

Gene ID: 121677386, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121677386
Gene description
Sharpr-MPRA regulatory region 1652
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 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121677386 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8962990..8963284)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8496671..8496965)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9023049..9023343)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 17 Neighboring gene uncharacterized LOC112268261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8968192-8968692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8968693-8969193 Neighboring gene carbonic anhydrase 6 Neighboring gene RNA, 7SL, cytoplasmic 451, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9046209-9046710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9048516-9049016 Neighboring gene solute carrier family 2 member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9064340-9064868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9064869-9065395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9067816-9068316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9068317-9068817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 207

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_075471.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    8962990..8963284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8496671..8496965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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