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LOC121725075 Sharpr-MPRA regulatory region 7345 [ Homo sapiens (human) ]

Gene ID: 121725075, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725075
Gene description
Sharpr-MPRA regulatory region 7345
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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 21:Repr, strong Polycomb repression). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226542808..226543102)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (225730918..225731212)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226730509..226730803)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373115 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226707962-226708656 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226708657-226709349 Neighboring gene uncharacterized LOC105373116 Neighboring gene Sharpr-MPRA regulatory region 13952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226755704-226756204 Neighboring gene stum, mechanosensory transduction mediator homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226784052-226784579 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226785107-226785634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226789667-226790203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226790204-226790739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226791949-226792628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226792629-226793308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226822865-226823648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226830147-226830814 Neighboring gene Sharpr-MPRA regulatory region 1086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226832149-226832814 Neighboring gene MPRA-validated peak735 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226834481-226835372 Neighboring gene Sharpr-MPRA regulatory region 9391 Neighboring gene inositol-trisphosphate 3-kinase B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226841474-226842065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226846645-226847475 Neighboring gene uncharacterized LOC124904529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226850479-226851004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2661 Neighboring gene ITPKB intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2662

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_075544.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    226542808..226543102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    225730918..225731212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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