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LOC120893147 Sharpr-MPRA regulatory region 2220 [ Homo sapiens (human) ]

Gene ID: 120893147, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120893147
Gene description
Sharpr-MPRA regulatory region 2220
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Mar 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 (94317173..94317467)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (94165413..94165707)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94782729..94783023)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378858 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 7015 Neighboring gene Rho GTPase activating protein 29 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:94660072-94660283 Neighboring gene NANOG hESC enhancer GRCh37_chr1:94664929-94665459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1095 Neighboring gene ARHGAP29 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94736061-94737260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1346 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:94792875-94793386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:94883134-94883925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1347 Neighboring gene ATP binding cassette subfamily D member 3 Neighboring gene ribosomal protein L21 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1097 Neighboring gene coagulation factor III, tissue factor

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_073907.1 

    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
    94317173..94317467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    94165413..94165707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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