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LOC124174279 Sharpr-MPRA regulatory region 7553 [ Homo sapiens (human) ]

Gene ID: 124174279, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124174279
Gene description
Sharpr-MPRA regulatory region 7553
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 DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73665474..73665768)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (74095194..74095488)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (74577709..74578003)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene STAU2 antisense RNA 1 Neighboring gene staufen double-stranded RNA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27532 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:74500454-74500955 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:74583372-74583561 Neighboring gene MPRA-validated peak7072 silencer Neighboring gene VENT homeobox pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19292 Neighboring gene ubiquitin conjugating enzyme E2 W Neighboring gene ReSE screen-validated silencer GRCh37_chr8:74743717-74743929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:74756087-74756814 Neighboring gene RNA, 7SL, cytoplasmic 760, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74785489-74785988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:74790306-74791183 Neighboring gene long intergenic non-protein coding RNA 1617

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_078578.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    73665474..73665768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    74095194..74095488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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