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LOC122757960 Sharpr-MPRA regulatory region 8914 [ Homo sapiens (human) ]

Gene ID: 122757960, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122757960
Gene description
Sharpr-MPRA regulatory region 8914
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 3:PromF, promoter flanking). [provided by RefSeq, Oct 2021]
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Genomic context

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Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (65747275..65747569)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (65758071..65758364)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (65974409..65974703)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15939 Neighboring gene uncharacterized LOC107985889 Neighboring gene keratin 18 pseudogene 33 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:65927762-65927952 Neighboring gene uncharacterized LOC105369167 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:66001201-66001469 Neighboring gene MPRA-validated peak3734 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:66016952-66017452 Neighboring gene long intergenic non-protein coding RNA 2934 Neighboring gene HHc2:065915 enhancer upstream of MEIS1 Neighboring gene HHc2:065944 enhancer upstream of MEIS1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:66157143-66157642 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:66184819-66185607 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:66270681-66271880 Neighboring gene VISTA enhancer hs205 Neighboring gene uncharacterized LOC107985890

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_076952.1 

    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
    65747275..65747569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    65758071..65758364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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