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LOC123575604 Sharpr-MPRA regulatory region 6269 [ Homo sapiens (human) ]

Gene ID: 123575604, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123575604
Gene description
Sharpr-MPRA regulatory region 6269
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 23:Low, low signal proximal to active elements). [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 (154285689..154285983)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (154819617..154819911)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153665249..153665543)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153568703-153569668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153582451-153582951 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene uncharacterized LOC107986465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598352-153598858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598859-153599363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16539 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 7 Neighboring gene microRNA 1294

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_077864.1 

    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
    154285689..154285983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    154819617..154819911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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