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LOC123038191 Sharpr-MPRA regulatory region 14292 [ Homo sapiens (human) ]

Gene ID: 123038191, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123038191
Gene description
Sharpr-MPRA regulatory region 14292
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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Oct 2021]
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Genomic context

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Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (136994907..136995201)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (139735554..139735848)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (136713749..136714043)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RAD51AP1 pseudogene 1 Neighboring gene MPRA-validated peak4840 silencer Neighboring gene NCK adaptor protein 1 Neighboring gene IL20RB antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:136725903-136726404 Neighboring gene interleukin 20 receptor subunit beta Neighboring gene CRISPRi-validated cis-regulatory element chr3.4045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:136741910-136742410 Neighboring gene MPRA-validated peak4841 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:136751222-136752088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:136930163-136930662 Neighboring gene VISTA enhancer hs208 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:137038167-137039366 Neighboring gene VISTA enhancer hs209 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:137050490-137051689 Neighboring gene VISTA enhancer hs210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:137179051-137179600 Neighboring gene VISTA enhancer hs653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20598 Neighboring gene RNA, 5S ribosomal pseudogene 142 Neighboring gene MTCH2 pseudogene 1

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_077322.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    136994907..136995201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    139735554..139735848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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