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LOC112840919 Sharpr-MPRA regulatory region 14717 [ Homo sapiens (human) ]

Gene ID: 112840919, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112840919
Gene description
Sharpr-MPRA regulatory region 14717
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 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240434032..240434326)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240927725..240928019)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241373449..241373743)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241230324-241231300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241232276-241233251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241264697-241265596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241293407-241294054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241294055-241294702 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241301246-241301403 Neighboring gene VISTA enhancer hs1937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241313445-241313999 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241316604-241317104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241317105-241317605 Neighboring gene uncharacterized LOC102723825 Neighboring gene NFE2L2 motif-containing MPRA enhancer 30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241338263-241338901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241339542-241340180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241351335-241351920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366327-241366828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366829-241367328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241374143-241374719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241376453-241377029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241377081-241377582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241394718-241395368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397321-241397972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397973-241398622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241398623-241399273 Neighboring gene GPC1 antisense RNA 1 Neighboring gene glypican 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241417613-241418122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418123-241418632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418633-241419142 Neighboring gene microRNA 149 Neighboring gene ankyrin repeat and MYND domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241439369-241439869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241443459-241443959 Neighboring gene Sharpr-MPRA regulatory region 11390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241467695-241468196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241494599-241495099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12515 Neighboring gene conserved acetylation island sequence C08 enhancer Neighboring gene dual specificity phosphatase 28

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_060954.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    240434032..240434326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    240927725..240928019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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