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LOC112935972 Sharpr-MPRA regulatory region 12117 [ Homo sapiens (human) ]

Gene ID: 112935972, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112935972
Gene description
Sharpr-MPRA regulatory region 12117
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak repressive activity by Sharpr-MRPA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Aug 2018]
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Genomic context

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Location:
4q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (109174253..109174547)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (112476375..112476669)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110095409..110095703)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene regulator of chromosome condensation 2 pseudogene 8 Neighboring gene collagen type XXV alpha 1 chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:109852739-109853343 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71593 Neighboring gene uncharacterized LOC124900756 Neighboring gene Sharpr-MPRA regulatory region 6815 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71618 Neighboring gene uncharacterized LOC124900754 Neighboring gene NANOG hESC enhancer GRCh37_chr4:110107576-110108103 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71641 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71659 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71681 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15620 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:110223886-110224668 Neighboring gene COL25A1 divergent transcript

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_061486.1 

    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
    109174253..109174547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    112476375..112476669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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