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LOC123956130 Sharpr-MPRA regulatory region 8653 [ Homo sapiens (human) ]

Gene ID: 123956130, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123956130
Gene description
Sharpr-MPRA regulatory region 8653
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 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123956130 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36986644..36986938)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (37126974..37127268)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (37026249..37026543)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375235 Neighboring gene engulfment and cell motility 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25847 Neighboring gene microRNA 1200 Neighboring gene MPRA-validated peak6484 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:37052330-37053529 Neighboring gene ELMO1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25849 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:37071299-37072498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25851 Neighboring gene origin-enriched sequence 8 Neighboring gene ribosomal protein S17 pseudogene 13

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_078325.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    36986644..36986938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    37126974..37127268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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