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LOC112695095 Sharpr-MPRA regulatory region 8945 [ Homo sapiens (human) ]

Gene ID: 112695095, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112695095
Gene description
Sharpr-MPRA regulatory region 8945
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 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39490184..39490478)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39960804..39961098)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39886189..39886483)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Neighboring gene uncharacterized LOC100506472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39829518-39830236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39830237-39830954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19048 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39843664-39843855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39844165-39845073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19050 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19055 Neighboring gene beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39866163-39867092 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39869361-39869718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39869884-39870813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39874451-39874952 Neighboring gene MGAT3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39891955-39892455 Neighboring gene uncharacterized LOC105373035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898075-39898576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898577-39899076 Neighboring gene mitochondrial elongation factor 1 Neighboring gene mitochondrial elongation factor 1 upstream open reading frame

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_060873.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    39490184..39490478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39960804..39961098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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