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LOC123575603 Sharpr-MPRA regulatory region 747 [ Homo sapiens (human) ]

Gene ID: 123575603, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123575603
Gene description
Sharpr-MPRA regulatory region 747
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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Dec 2021]
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Genomic context

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See LOC123575603 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154167609..154167903)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (154700578..154700872)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153547169..153547463)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 114 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23472 Neighboring gene microfibril associated protein 3 Neighboring gene NANOG hESC enhancer GRCh37_chr5:153465203-153465708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153486570-153487566 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 16537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153582451-153582951 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 polypeptide N-acetylgalactosaminyltransferase 10

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_077863.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    154167609..154167903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    154700578..154700872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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