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LOC112694744 Sharpr-MPRA regulatory region 302 [ Homo sapiens (human) ]

Gene ID: 112694744, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694744
Gene description
Sharpr-MPRA regulatory region 302
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 non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37563847..37564141)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35946222..35946522)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38936149..38936443)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905019 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38737611-38738536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13302 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38739461-38740385 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1A Neighboring gene VISTA enhancer hs2333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38823452-38824003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829141-38829654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38829655-38830166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13307 Neighboring gene uncharacterized LOC105372797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38856065-38856652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38918848-38919348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38919349-38919849 Neighboring gene KCNJ6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18455 Neighboring gene uncharacterized LOC105372798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13308 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38960011-38960798 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:38964609-38965446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38965447-38966286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39020347-39020847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39039721-39040443 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39040444-39041167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39047357-39048256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39054697-39055209 Neighboring gene potassium inwardly rectifying channel subfamily J member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13309 Neighboring gene uncharacterized LOC101928368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39127657-39128504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39200662-39201384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39201385-39202107 Neighboring gene VISTA enhancer hs1811 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:39261680-39261872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:39345582-39346781 Neighboring gene Down syndrome critical region 4

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_060771.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    37563847..37564141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    35946222..35946522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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