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LOC112997581 Sharpr-MPRA regulatory region 9172 [ Homo sapiens (human) ]

Gene ID: 112997581, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112997581
Gene description
Sharpr-MPRA regulatory region 9172
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). It also displayed weak repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW). [provided by RefSeq, Aug 2018]
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Genomic context

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See LOC112997581 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179198808..179199102)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179751921..179752216)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178625809..178626103)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178487693-178488228 Neighboring gene zinc finger protein 354C Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178594089-178594590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178608229-178608956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178611336-178611936 Neighboring gene uncharacterized LOC124900195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178619033-178619724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178636495-178636995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178644493-178645348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178660748-178661408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178661409-178662067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178691371-178692266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178692267-178693160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178728767-178729266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178747039-178747538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178759497-178760033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178762827-178763626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178763627-178764426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178764427-178765226 Neighboring gene uncharacterized LOC105377759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178795338-178796033 Neighboring gene uncharacterized LOC124901149 Neighboring gene uncharacterized LOC107986494

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_061580.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    179198808..179199102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    179751921..179752216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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