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LOC123924904 Sharpr-MPRA regulatory region 10361 [ Homo sapiens (human) ]

Gene ID: 123924904, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123924904
Gene description
Sharpr-MPRA regulatory region 10361
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123924904 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12640364..12640658)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12771451..12771745)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12679989..12680283)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375156 Neighboring gene Sharpr-MPRA regulatory region 5173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:12536548-12537176 Neighboring gene chromosome 7 open reading frame 78 Neighboring gene taste 2 receptor member 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25664 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12596820-12598019 Neighboring gene uncharacterized LOC107986768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25665 Neighboring gene scinderin Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:12635263-12636462 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12700000-12700549 Neighboring gene uncharacterized LOC105375157 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12714709-12715908 Neighboring gene apoptosis-inducing, TAF9-like domain 1 pseudogene

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_078296.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    12640364..12640658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    12771451..12771745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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