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LOC112533638 Sharpr-MPRA regulatory region 10579 [ Homo sapiens (human) ]

Gene ID: 112533638, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533638
Gene description
Sharpr-MPRA regulatory region 10579
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43216770..43217064)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44075540..44075834)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41368789..41369083)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 DNA repair associated Neighboring gene uncharacterized LOC101929767 Neighboring gene uncharacterized LOC124900391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12239 Neighboring gene BRCA1 pseudogene 1 Neighboring gene NBR1 autophagy cargo receptor Neighboring gene transmembrane protein 106A Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41379300-41379489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41381411-41382085 Neighboring gene coiled-coil domain containing 200 Neighboring gene RNA, U2 small nuclear 1

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_056909.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43216770..43217064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44075540..44075834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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