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LOC112272568 Sharpr-MPRA regulatory region 509 [ Homo sapiens (human) ]

Gene ID: 112272568, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112272568
Gene description
Sharpr-MPRA regulatory region 509
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Mar 2018]
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Genomic context

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See LOC112272568 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90513665..90513959)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84738817..84739111)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90980009..90980303)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90953133-90953634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90962117-90962616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90967372-90968082 Neighboring gene uncharacterized LOC124903359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90975958-90976791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90978459-90979291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90979510-90980022 Neighboring gene uncharacterized LOC105370619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90984266-90985000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90985001-90985735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90989062-90989923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90999515-91000015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91000050-91000880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005194-91005707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005708-91006220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91012381-91012922 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91020548-91020710 Neighboring gene tetratricopeptide repeat domain 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91035910-91036410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91036411-91036911 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:91037691-91038890 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:91040724-91041597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91081381-91081902 Neighboring gene Sharpr-MPRA regulatory region 13818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91091763-91092395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91105894-91106408 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108217-91108821 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108822-91109426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:91112734-91113933 Neighboring gene TTC7B antisense RNA 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_056704.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    90513665..90513959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    84738817..84739111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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