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LOC121587569 Sharpr-MPRA regulatory region 9475 [ Homo sapiens (human) ]

Gene ID: 121587569, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121587569
Gene description
Sharpr-MPRA regulatory region 9475
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121587569 in Genome Data Viewer
Location:
17p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (981049..981343)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (867442..867736)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (884289..884583)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398 Neighboring gene nucleoredoxin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:773909-774736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:790499-790998 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:801761-802401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:802905-803406 Neighboring gene uncharacterized LOC101927727 Neighboring gene Sharpr-MPRA regulatory region 13189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:821769-822286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:827078-827634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:827635-828190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:830369-831259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:850331-851222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:849438-850330 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:853008-853900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:858382-858882 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:858973-859201 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:865783-866755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:867917-868670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:868671-869424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:875671-876172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:876173-876672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:881929-882864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:891083-891953 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:900391-901082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:908184-908942 Neighboring gene uncharacterized LOC105371481 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene ABR activator of RhoGEF and GTPase

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_074856.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    981049..981343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    20296..20590
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    20296..20590
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    867442..867736
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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