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LOC124153116 Sharpr-MPRA regulatory region 772 [ Homo sapiens (human) ]

Gene ID: 124153116, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124153116
Gene description
Sharpr-MPRA regulatory region 772
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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (18770459..18770753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (19036216..19036510)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (18627969..18628263)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene N-acetyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:18372869-18373421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:18394809-18395372 Neighboring gene pleckstrin and Sec7 domain containing 3 Neighboring gene uncharacterized LOC124901896 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:18473110-18473654 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:18522753-18523952 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:18536540-18537102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27053 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:18624592-18625402 Neighboring gene ribosomal protein L35 pseudogene 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:18696773-18697972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:18703980-18704480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:18704481-18704981 Neighboring gene uncharacterized LOC124901897

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_078504.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    18770459..18770753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    19036216..19036510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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