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LOC112694740 Sharpr-MPRA regulatory region 13847 [ Homo sapiens (human) ]

Gene ID: 112694740, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112694740
Gene description
Sharpr-MPRA regulatory region 13847
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 1:Tss). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112694740 in Genome Data Viewer
Location:
21q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34375270..34375564)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32757320..32757614)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35747569..35747863)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35575958-35576956 Neighboring gene VISTA enhancer hs2174 Neighboring gene uncharacterized LOC105372791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35755873-35756380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756381-35756886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35756972-35757494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35757495-35758015 Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 2 Neighboring gene small integral membrane protein 11 Neighboring gene salivary glue protein Sgs-3 Neighboring gene chromosome 21 open reading frame 140 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35788990-35790189 Neighboring gene small integral membrane protein 34

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_060769.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    34375270..34375564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    32757320..32757614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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