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LOC113146412 Sharpr-MPRA regulatory region 2979 [ Homo sapiens (human) ]

Gene ID: 113146412, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113146412
Gene description
Sharpr-MPRA regulatory region 2979
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 matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW). [provided by RefSeq, Sep 2018]
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Genomic context

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See LOC113146412 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13715597..13715891)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13589123..13589417)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13715829..13716123)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAN binding protein 9 Neighboring gene U7 small nuclear RNA Neighboring gene Sharpr-MPRA regulatory region 12249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16937 Neighboring gene uncharacterized LOC124901264 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13755870-13756079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24039 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13769328-13769828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13787884-13788716 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13789385-13789553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16939 Neighboring gene uncharacterized LOC107986571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24040 Neighboring gene mitochondrial calcium uniporter regulator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13872467-13873049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16941 Neighboring gene CRISPRi-validated cis-regulatory element chr6.697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13924078-13924578 Neighboring gene NANOG hESC enhancer GRCh37_chr6:13944174-13944689 Neighboring gene ring finger protein 182 Neighboring gene mitochondrial ribosomal protein L35 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_061640.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    13715597..13715891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    13589123..13589417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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