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LOC121268920 Sharpr-MPRA regulatory region 7548 [ Homo sapiens (human) ]

Gene ID: 121268920, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121268920
Gene description
Sharpr-MPRA regulatory region 7548
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 non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11411500..11411794)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8328930..8329224, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11269009..11269303)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene FAM167A antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 293, pseudogene Neighboring gene RNA, U6 small nuclear 1084, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11264728-11265248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11265249-11265768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11273999-11274500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11274501-11275000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282034-11282577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11282578-11283120 Neighboring gene family with sequence similarity 167 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293411-11293930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11293931-11294450 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11295726-11295929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11300354-11300945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309217-11309792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11309793-11310368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11310369-11310944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11325425-11326194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27015 Neighboring gene CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27022 Neighboring gene BLK proto-oncogene, Src family tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27025 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11395673-11395837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 Neighboring gene uncharacterized LOC105379241

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_074313.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    11411500..11411794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    1936737..1937031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    8328930..8329224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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