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LOC122819146 Sharpr-MPRA regulatory region 13360 [ Homo sapiens (human) ]

Gene ID: 122819146, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122819146
Gene description
Sharpr-MPRA regulatory region 13360
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Oct 2021]
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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 (119218873..119219167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119652400..119652694)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119976449..119976743)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985941 Neighboring gene RNA, 7SL, cytoplasmic 468, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119953346-119954184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119954185-119955022 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119975074-119976273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11900 Neighboring gene STEAP3 metalloreductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119997658-119998174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119998175-119998691 Neighboring gene STEAP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120011987-120012930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120013256-120014122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120016992-120017765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11902 Neighboring gene uncharacterized LOC105373581

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_077006.1 

    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
    119218873..119219167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    119652400..119652694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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