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LOC121056759 Sharpr-MPRA regulatory region 14782 [ Homo sapiens (human) ]

Gene ID: 121056759, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121056759
Gene description
Sharpr-MPRA regulatory region 14782
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 non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121056759 in Genome Data Viewer
Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (6765716..6766010)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (6696362..6696656)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6765829..6766123)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22339 Neighboring gene terminal nucleotidyltransferase 4A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:6726225-6727027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22342 Neighboring gene uncharacterized LOC107986401 Neighboring gene splicing factor 3A subunit 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:6770439-6770938 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:6772403-6773602 Neighboring gene long intergenic non-protein coding RNA 2236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:6803880-6804380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:6823245-6823829

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_074149.1 

    Range
    101..395
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    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    6765716..6766010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    6696362..6696656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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