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LOC112939933 Sharpr-MPRA regulatory region 13104 [ Homo sapiens (human) ]

Gene ID: 112939933, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112939933
Gene description
Sharpr-MPRA regulatory region 13104
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Aug 2018]
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Genomic context

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Location:
4p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (38802628..38802922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (38773049..38773343)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38804249..38804543)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21447 Neighboring gene RNA, 5S ribosomal pseudogene 158 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21448 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79956/79957 Neighboring gene toll like receptor 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21449 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_79971, experimental_79978, experimental_79983/79985 and experimental_79990 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80014/80015 Neighboring gene toll like receptor 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80029 Neighboring gene uncharacterized LOC124900695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21452 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80044 Neighboring gene toll like receptor 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:38858887-38860086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15365 Neighboring gene family with sequence similarity 114 member A1 Neighboring gene microRNA 574

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_061511.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    38802628..38802922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    38773049..38773343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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