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LOC112163685 Sharpr-MPRA regulatory region 5751 [ Homo sapiens (human) ]

Gene ID: 112163685, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112163685
Gene description
Sharpr-MPRA regulatory region 5751
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 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). [provided by RefSeq, May 2021]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105027172..105027466)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99271716..99272010)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105493509..105493803)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6209 Neighboring gene clathrin binding box of aftiphilin containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105485485-105486145 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:105486597-105487112 and GRCh37_chr14:105487627-105488140 Neighboring gene cell division cycle associated 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9128 Neighboring gene uncharacterized LOC124903398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105499947-105500448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105521947-105522722 Neighboring gene G protein-coupled receptor 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105532273-105532790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9138 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:105536095-105537294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105544057-105544557 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:105544918-105545868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105560015-105560637 Neighboring gene long intergenic non-protein coding RNA 2298

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_056660.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    105027172..105027466
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99271716..99272010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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