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LOC112872293 Sharpr-MPRA regulatory region 6303 [ Homo sapiens (human) ]

Gene ID: 112872293, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112872293
Gene description
Sharpr-MPRA regulatory region 6303
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 13:Ctcf). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112872293 in Genome Data Viewer
Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (121995362..121995656)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (124715322..124715616)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (121714209..121714503)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 15 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:121657363-121657943 Neighboring gene uncharacterized LOC101927010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:121711615-121712116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20352 Neighboring gene NANOG hESC enhancer GRCh37_chr3:121724759-121725260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14638 Neighboring gene immunoglobulin like domain containing receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20363 Neighboring gene CD86 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14639 Neighboring gene calcium sensing receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20365 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:121983934-121984035

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_061352.1 

    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
    121995362..121995656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    124715322..124715616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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