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LOC120883620 Sharpr-MPRA regulatory region 9811 [ Homo sapiens (human) ]

Gene ID: 120883620, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120883620
Gene description
Sharpr-MPRA regulatory region 9811
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 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 25:Art). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8862530..8862824)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8395995..8396289)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8922589..8922883)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene Sharpr-MPRA regulatory region 4622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 201 Neighboring gene Sharpr-MPRA regulatory region 7894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 203 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:8881999-8882222 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene ribosomal protein L23a pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8925615-8926450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8938769-8939360 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:8933339-8934538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8937582-8938174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8938175-8938768 Neighboring gene ENO1 antisense RNA 1 Neighboring gene microRNA 6728 Neighboring gene enolase 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_073743.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    8862530..8862824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8395995..8396289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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