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LOC123493218 Sharpr-MPRA regulatory region 7547 [ Homo sapiens (human) ]

Gene ID: 123493218, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123493218
Gene description
Sharpr-MPRA regulatory region 7547
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 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, Nov 2021]
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Genomic context

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See LOC123493218 in Genome Data Viewer
Location:
4q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (150722957..150723251)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154046885..154047179)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (151644109..151644403)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene LPS responsive beige-like anchor protein Neighboring gene ReSE screen-validated silencer GRCh37_chr4:151550380-151550601 Neighboring gene mab-21 like 2 Neighboring gene zinc finger and BTB domain containing 8 opposite strand pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151795383-151795916 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:151875385-151876005 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151884380-151885210 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151885211-151886041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:151908831-151909345 Neighboring gene RNA, 5S ribosomal pseudogene 168 Neighboring gene LRBA intron ENCODE-defined enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:151936707-151937304 Neighboring gene adenylate kinase 4 pseudogene 6

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_077642.1 

    Range
    101..395
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    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    150722957..150723251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    154046885..154047179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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