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LOC124500706 Sharpr-MPRA regulatory region 8024 [ Homo sapiens (human) ]

Gene ID: 124500706, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124500706
Gene description
Sharpr-MPRA regulatory region 8024
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 3:PromF, promoter flanking) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124500706 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (86374627..86374921)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (86317121..86317415)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86085669..86085963)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SET pseudogene 17 Neighboring gene heat shock protein nuclear import factor hikeshi Neighboring gene uncharacterized LOC105369421 Neighboring gene RNA, 7SL, cytoplasmic 225, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:86067691-86068225 Neighboring gene coiled-coil domain containing 81 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:86153050-86154249 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:86158730-86158943 Neighboring gene PTP4A1 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:86171015-86171543 Neighboring gene malic enzyme 3 Neighboring gene Sharpr-MPRA regulatory region 11231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:86208417-86209018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:86209019-86209620 Neighboring gene MPRA-validated peak1375 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3827 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:86234525-86235724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:86270243-86270744 Neighboring gene MPRA-validated peak1376 silencer

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_079367.1 

    Range
    101..395
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    86374627..86374921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    86317121..86317415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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