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LOC123575611 Sharpr-MPRA regulatory region 5384 [ Homo sapiens (human) ]

Gene ID: 123575611, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123575611
Gene description
Sharpr-MPRA regulatory region 5384
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 non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 10:DNaseD). [provided by RefSeq, Dec 2021]
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Genomic context

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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168528464..168528758)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (169063245..169063539)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (167955469..167955763)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene WW and C2 domain containing 1 Neighboring gene uncharacterized LOC124901129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167792124-167792657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:167836336-167837535 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23590 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83640 Neighboring gene arginyl-tRNA synthetase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167956617-167957158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:167962977-167963477 Neighboring gene fibrillarin like 1 Neighboring gene solute carrier family 2 member 3 pseudogene 1 Neighboring gene pantothenate kinase 3

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_077871.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    168528464..168528758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    169063245..169063539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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