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LOC113146415 Sharpr-MPRA regulatory region 14394 [ Homo sapiens (human) ]

Gene ID: 113146415, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113146415
Gene description
Sharpr-MPRA regulatory region 14394
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Sep 2018]
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Genomic context

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See LOC113146415 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136785311..136785605)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (137973492..137973786)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137106449..137106743)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 5 Neighboring gene MAP3K5 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 219 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25116 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25118 Neighboring gene uncharacterized LOC124901410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25121 Neighboring gene Sharpr-MPRA regulatory region 8718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137112365-137112880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25124 Neighboring gene MAP3K5 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137143334-137144066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137144067-137144799 Neighboring gene MPRA-validated peak6150 silencer Neighboring gene MPRA-validated peak6151 silencer Neighboring gene small nucleolar RNA SNORA27 Neighboring gene peroxisomal biogenesis factor 7 Neighboring gene ribosomal protein L7a pseudogene 37

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_061643.1 

    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
    136785311..136785605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    137973492..137973786
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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